#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IGV	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_TTotCov_SOL	i_TVaf_SOL	i_TVarCov_SOL	i_Transcript_Id	i_Ttot_rna	i_Tvaf_rna	i_Tvar_rna	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_germline-maf-frequency	i_havana_transcript	i_note	i_refseq_mrna_id	i_secondary_variant_classification
DNAJC16	23341	mdanderson.org	37	1	15892415	15892415	+	Splice_Site	SNP	A	A	T	rs2236215	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:15892415A>T	ENST00000375847.3	+	12	1764	c.1600A>T	c.(1600-1602)Agg>Tgg	p.R534W	DNAJC16_ENST00000483270.1_3'UTR|DNAJC16_ENST00000375849.1_Splice_Site_p.R534W|RP4-680D5.8_ENST00000606186.1_RNA|DNAJC16_ENST00000375838.1_Splice_Site_p.R534W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	534					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TGGTTTTAGGAGGGAAATGAT	0.408																																					p.R534W													.	.			0			c.A1600T												276.0	305.0	295.0					1																	15892415		2203	4300	6503	SO:0001630	splice_region_variant	23341	exon12			TTTAGGAGGGAAA	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.1599-1A>T	1.37:g.15892415A>T			193	0	0		99	0.03	3	NM_015291	21	0.00	0	Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	C	14.15	2.450414	0.43531	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.21191	2.02;2.02;2.02	5.94	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.45657	0.1353	M	0.70275	2.135	0.34485	P	0.29572200000000004	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.57900	-0.7731	9	0.87932	D	0	-24.7242	13.1897	0.59702	0.4189:0.5811:0.0:0.0	.	534;534	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	W	534	ENSP00000365007:R534W;ENSP00000364998:R534W;ENSP00000365009:R534W	ENSP00000364998:R534W	R	+	1	2	DNAJC16	15765002	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.437000	0.34991	0.814000	0.34374	-0.215000	0.12644	AGG			0.408	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000006764.1		NM_015291	Missense_Mutation
CROCCP2	84809	broad.mit.edu	37	1	16958545	16958546	+	lincRNA	INS	-	-	C	rs113787707|rs386366308	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:16958545_16958546insC	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ggcctcagtttcccatccgtgt	0.55													|||unknown(NO_COVERAGE)	1910	0.38139	0.4319	0.3487	5008	,	,		69201	0.4583		0.3151	False		,,,				2504	0.3252				.													.	.			0			.																																											0	.			TCAGTTTCCCATC	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16958548_16958548dupC			23	0	0		12	0.25	3	.	2	0.00	0	Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.550	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000092784.1		NR_026752.1	
L1TD1	54596	mdanderson.org	37	1	62676994	62676994	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:62676994G>T	ENST00000498273.1	+	4	2843	c.2548G>T	c.(2548-2550)Gtt>Ttt	p.V850F	Y_RNA_ENST00000363304.1_RNA	NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	850										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						tagagattatgttttgcatat	0.383																																					p.V850F													.	.			0			c.G2548T												36.0	37.0	37.0					1																	62676994		2196	4297	6493	SO:0001583	missense	54596	exon5			GATTATGTTTTGC	BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.2548G>T	1.37:g.62676994G>T	ENSP00000419901:p.Val850Phe		197	0	0		86	0.07	6	NM_001164835	999	0.00	0	Q8NDA1|Q9NUV8|Q9NV78	Missense_Mutation	SNP	ENST00000498273.1	37	CCDS619.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177483	0.21787	.	.	ENSG00000240563	ENST00000498273	T	0.17054	2.3	2.67	-4.33	0.03677	.	.	.	.	.	T	0.24699	0.0599	L	0.46947	1.48	0.09310	N	1	P	0.48294	0.908	P	0.58520	0.84	T	0.18713	-1.0328	9	0.62326	D	0.03	.	8.37	0.32410	0.5959:0.0:0.4041:0.0	.	850	Q5T7N2	LITD1_HUMAN	F	850	ENSP00000419901:V850F	ENSP00000419901:V850F	V	+	1	0	L1TD1	62449582	0.004000	0.15560	0.000000	0.03702	0.088000	0.18126	-0.890000	0.04140	-1.098000	0.03038	0.305000	0.20034	GTT			0.383	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000024688.1		NM_019079	
CD53	963	mdanderson.org	37	1	111440512	111440512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:111440512G>T	ENST00000271324.5	+	7	698	c.586G>T	c.(586-588)Gag>Tag	p.E196*	CD53_ENST00000429072.2_Nonsense_Mutation_p.E137*|CD53_ENST00000497404.1_Intron	NM_000560.3|NM_001040033.1	NP_000551.1|NP_001035122.1	P19397	CD53_HUMAN	CD53 molecule	196					positive regulation of myoblast fusion (GO:1901741)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATGTGTGATTGAGGTAAGAgc	0.373																																					p.E196X													.	.			0			c.G586T												164.0	152.0	156.0					1																	111440512		2203	4300	6503	SO:0001587	stop_gained	963	exon7			GTGATTGAGGTAA	BC040693	CCDS829.1	1p13	2013-02-14	2006-03-28		ENSG00000143119	ENSG00000143119		"""CD molecules"", ""Tetraspanins"""	1686	protein-coding gene	gene with protein product		151525	"""CD53 antigen"""	MOX44		8319976	Standard	XM_006711053		Approved	TSPAN25	uc001dzw.3	P19397	OTTHUMG00000048020	ENST00000271324.5:c.586G>T	1.37:g.111440512G>T	ENSP00000271324:p.Glu196*		35	0	0		24	0.13	3	NM_000560	179	0.00	0	B2R905|Q5U0D6	Nonsense_Mutation	SNP	ENST00000271324.5	37	CCDS829.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.227564	0.39399	.	.	ENSG00000143119	ENST00000429072;ENST00000271324	.	.	.	5.54	3.65	0.41850	.	0.151899	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	13.9281	0.63975	0.0:0.5332:0.4668:0.0	.	.	.	.	X	137;196	.	ENSP00000271324:E196X	E	+	1	0	CD53	111242035	0.629000	0.27146	0.890000	0.34922	0.121000	0.20230	0.732000	0.26072	0.699000	0.31761	-0.519000	0.04390	GAG			0.373	CD53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032931.1		NM_000560	
DUSP27	92235	mdanderson.org	37	1	167097040	167097040	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:167097040G>T	ENST00000361200.2	+	6	2838	c.2672G>T	c.(2671-2673)aGt>aTt	p.S891I	DUSP27_ENST00000271385.5_Missense_Mutation_p.S891I|DUSP27_ENST00000443333.1_Missense_Mutation_p.S891I|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	891	Ser-rich.				protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GACACTGACAGTGCCATAGGG	0.512																																					p.S891I													.	.			0			c.G2672T												107.0	91.0	96.0					1																	167097040		2203	4300	6503	SO:0001583	missense	92235	exon5			CTGACAGTGCCAT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2672G>T	1.37:g.167097040G>T	ENSP00000354483:p.Ser891Ile		47	0.0212765957	1		22	0.09	2	NM_001080426	0		0	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	37	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.764706	0.49574	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.03717	3.83;3.83;3.83	5.4	5.4	0.78164	.	0.589559	0.15662	N	0.250879	T	0.08492	0.0211	M	0.65975	2.015	0.30752	N	0.745036	D	0.71674	0.998	D	0.63488	0.915	T	0.01242	-1.1408	10	0.87932	D	0	-19.9392	13.4759	0.61308	0.0748:0.0:0.9251:0.0	.	891	Q5VZP5	DUS27_HUMAN	I	891	ENSP00000354483:S891I;ENSP00000271385:S891I;ENSP00000404874:S891I	ENSP00000271385:S891I	S	+	2	0	DUSP27	165363664	1.000000	0.71417	0.966000	0.40874	0.899000	0.52679	3.234000	0.51320	2.499000	0.84300	0.643000	0.83706	AGT			0.512	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000083244.1		NM_001080426	
RBBP5	5929	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	205084037	205084037	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr1:205084037T>C	ENST00000264515.6	-	3	239	c.98A>G	c.(97-99)aAc>aGc	p.N33S	RBBP5_ENST00000367164.1_Missense_Mutation_p.N33S|RBBP5_ENST00000484379.1_5'UTR	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	33					cellular response to DNA damage stimulus (GO:0006974)|histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	methylated histone binding (GO:0035064)|transcription regulatory region DNA binding (GO:0044212)			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			GCCCCACCTGTTAAAGGTGCA	0.413																																					p.N33S													.	.			0			c.A98G												51.0	46.0	48.0					1																	205084037		2203	4298	6501	SO:0001583	missense	5929	exon3			CACCTGTTAAAGG	BC053856	CCDS30983.1, CCDS53463.1	1q32	2013-01-10	2001-11-28		ENSG00000117222	ENSG00000117222		"""WD repeat domain containing"""	9888	protein-coding gene	gene with protein product	"""SWD1, Set1c WD40 repeat protein, homolog (S. cerevisiae)"""	600697	"""retinoblastoma-binding protein 5"""			7558034	Standard	NM_005057		Approved	RBQ3, SWD1	uc001hbu.2	Q15291	OTTHUMG00000037104	ENST00000264515.6:c.98A>G	1.37:g.205084037T>C	ENSP00000264515:p.Asn33Ser		375	0	0		200	0.14	28	NM_005057	23	0.35	8	A8K272|Q7Z6D8|Q8NDZ7	Missense_Mutation	SNP	ENST00000264515.6	37	CCDS30983.1	.	.	.	.	.	.	.	.	.	.	T	28.9	4.964306	0.92791	.	.	ENSG00000117222	ENST00000264515;ENST00000367164	T;T	0.56941	0.43;0.45	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.62624	0.2443	L	0.45051	1.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.56312	-0.8000	10	0.09590	T	0.72	.	15.8462	0.78895	0.0:0.0:0.0:1.0	.	68;33;33	B4DMM7;Q15291-2;Q15291	.;.;RBBP5_HUMAN	S	33	ENSP00000264515:N33S;ENSP00000356132:N33S	ENSP00000264515:N33S	N	-	2	0	RBBP5	203350660	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.936000	0.87665	2.232000	0.73038	0.528000	0.53228	AAC			0.413	RBBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090077.1		NM_005057	
LARP4B	23185	mdanderson.org	37	10	861005	861005	+	Silent	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr10:861005G>T	ENST00000316157.3	-	15	1741	c.1701C>A	c.(1699-1701)ctC>ctA	p.L567L	LARP4B_ENST00000469487.1_5'UTR	NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	567					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CGTCTGCACTGAGGGTCTGAA	0.592																																					p.L567L													.	.			0			c.C1701A												84.0	75.0	78.0					10																	861005		2203	4300	6503	SO:0001819	synonymous_variant	23185	exon16			TGCACTGAGGGTC	D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.1701C>A	10.37:g.861005G>T			63	0	0		52	0.06	3	NM_015155	66	0.00	0	A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	ENST00000316157.3	37	CCDS31131.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.754|0.754	-0.771858|-0.771858	0.02951|0.02951	.|.	.|.	ENSG00000107929|ENSG00000107929	ENST00000448368|ENST00000440895	.|.	.|.	.|.	5.91|5.91	-2.64|-2.64	0.06114|0.06114	.|.	.|.	.|.	.|.	.|.	T|.	0.47948|.	0.1473|.	.|.	.|.	.|.	0.47153|0.47153	D|D	0.999336|0.999336	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.42015|.	-0.9476|.	4|.	.|.	.|.	.|.	-29.2786|-29.2786	5.1477|5.1477	0.14993|0.14993	0.0677:0.3794:0.2736:0.2793|0.0677:0.3794:0.2736:0.2793	.|.	.|.	.|.	.|.	K|X	133|43	.|.	.|.	Q|S	-|-	1|2	0|0	LARP4B|LARP4B	851005|851005	0.111000|0.111000	0.22076|0.22076	0.092000|0.092000	0.20876|0.20876	0.195000|0.195000	0.23768|0.23768	-1.115000|-1.115000	0.03289|0.03289	-0.164000|-0.164000	0.10927|0.10927	0.655000|0.655000	0.94253|0.94253	CAG|TCA			0.592	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000046395.2		NM_015155	
IPMK	253430	mdanderson.org	37	10	59997522	59997522	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr10:59997522T>C	ENST00000373935.3	-	2	566	c.244A>G	c.(244-246)Agg>Ggg	p.R82G	snoU13_ENST00000458829.1_RNA	NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	82					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|neural tube formation (GO:0001841)|small molecule metabolic process (GO:0044281)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol tetrakisphosphate 3-kinase activity (GO:0000824)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)|inositol-1,4,5-trisphosphate 6-kinase activity (GO:0000823)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CTTGGGCCCCTTGGAGGTGGT	0.363																																					p.R82G													.	.			0			c.A244G												124.0	122.0	122.0					10																	59997522		2203	4300	6503	SO:0001583	missense	253430	exon2			GGCCCCTTGGAGG	AF432853	CCDS7250.1	10q21.1	2010-11-29		2004-07-22	ENSG00000151151	ENSG00000151151			20739	protein-coding gene	gene with protein product		609851				12223481, 12027805	Standard	NM_152230		Approved		uc001jkb.3	Q8NFU5	OTTHUMG00000018268	ENST00000373935.3:c.244A>G	10.37:g.59997522T>C	ENSP00000363046:p.Arg82Gly		80	0	0		58	0.05	3	NM_152230	9	0.00	0		Missense_Mutation	SNP	ENST00000373935.3	37	CCDS7250.1	.	.	.	.	.	.	.	.	.	.	T	15.18	2.755919	0.49362	.	.	ENSG00000151151	ENST00000373935	T	0.23147	1.92	5.8	1.8	0.24995	.	0.090520	0.64402	D	0.000001	T	0.41673	0.1169	M	0.85630	2.765	0.34856	D	0.742119	P	0.38597	0.639	P	0.46419	0.516	T	0.59526	-0.7438	9	.	.	.	-0.0354	13.3634	0.60669	0.0:0.0:0.5205:0.4795	.	82	Q8NFU5	IPMK_HUMAN	G	82	ENSP00000363046:R82G	.	R	-	1	2	IPMK	59667528	0.971000	0.33674	0.997000	0.53966	0.998000	0.95712	1.298000	0.33412	0.460000	0.27045	0.477000	0.44152	AGG			0.363	IPMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000048142.1		NM_152230	
MKI67	4288	mdanderson.org	37	10	129914216	129914216	+	Silent	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr10:129914216T>C	ENST00000368654.3	-	7	831	c.456A>G	c.(454-456)tcA>tcG	p.S152S	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	152					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAGGATTTCCTGAAACTTTTC	0.378																																					p.S152S													.	.			0			c.A456G												153.0	151.0	152.0					10																	129914216		2203	4300	6503	SO:0001819	synonymous_variant	4288	exon7			ATTTCCTGAAACT	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.456A>G	10.37:g.129914216T>C			78	0.0128205128	1		35	0.09	3	NM_002417	12	0.00	0	Q5VWH2	Silent	SNP	ENST00000368654.3	37	CCDS7659.1																																																																																					0.378	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000050999.1		NM_002417	
SLC43A1	8501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	11	57254608	57254608	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:57254608A>G	ENST00000278426.3	-	14	1848	c.1493T>C	c.(1492-1494)tTc>tCc	p.F498S	SLC43A1_ENST00000528450.1_Missense_Mutation_p.F498S	NM_003627.5	NP_003618.1			solute carrier family 43 (amino acid system L transporter), member 1											breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CATCGCCATGAAAAGTGGCTG	0.627																																					p.F498S													.	.			0			c.T1493C												78.0	63.0	68.0					11																	57254608		2201	4296	6497	SO:0001583	missense	8501	exon14			GCCATGAAAAGTG	AF045584	CCDS7958.1	11q12.1	2013-07-17	2013-07-17	2003-09-12	ENSG00000149150	ENSG00000149150		"""Solute carriers"""	9225	protein-coding gene	gene with protein product		603733	"""prostate cancer overexpressed gene 1"""	POV1		9255310, 9722952	Standard	NM_003627		Approved	R00504, PB39	uc001nkk.3	O75387	OTTHUMG00000167030	ENST00000278426.3:c.1493T>C	11.37:g.57254608A>G	ENSP00000278426:p.Phe498Ser		81	0	0		49	0.08	4	NM_001198810	471	0.21	101		Missense_Mutation	SNP	ENST00000278426.3	37	CCDS7958.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.592707	0.86953	.	.	ENSG00000149150	ENST00000278426;ENST00000528450	T;T	0.59364	0.27;0.27	4.92	4.92	0.64577	Major facilitator superfamily domain, general substrate transporter (1);	0.057380	0.64402	D	0.000001	T	0.70150	0.3191	M	0.77616	2.38	0.53005	D	0.999969	P	0.49862	0.929	P	0.57468	0.821	T	0.68595	-0.5367	10	0.22706	T	0.39	-33.7013	13.6724	0.62434	1.0:0.0:0.0:0.0	.	498	O75387	LAT3_HUMAN	S	498	ENSP00000278426:F498S;ENSP00000435673:F498S	ENSP00000278426:F498S	F	-	2	0	SLC43A1	57011184	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	8.178000	0.89690	2.069000	0.61940	0.379000	0.24179	TTC			0.627	SLC43A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392541.1		NM_003627	
OR4D10	390197	mdanderson.org	37	11	59245149	59245149	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:59245149G>T	ENST00000530162.1	+	1	304	c.247G>T	c.(247-249)Gtg>Ttg	p.V83L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	83						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGGTTCTGGTGGACCTTCT	0.428																																					p.V83L													.	.			0			c.G247T												135.0	135.0	135.0					11																	59245149		2055	4211	6266	SO:0001583	missense	390197	exon1			GTTCTGGTGGACC	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.247G>T	11.37:g.59245149G>T	ENSP00000436424:p.Val83Leu		157	0	0		61	0.05	3	NM_001004705	0		0	B2RNH6	Missense_Mutation	SNP	ENST00000530162.1	37	CCDS53636.1	.	.	.	.	.	.	.	.	.	.	G	1.561	-0.536749	0.04082	.	.	ENSG00000254466	ENST00000530162	T	0.01981	4.52	4.27	-0.376	0.12505	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.02342	0.0072	L	0.52126	1.63	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.44483	-0.9325	9	0.38643	T	0.18	.	2.9034	0.05713	0.1757:0.3426:0.3615:0.1201	.	83	Q8NGI6	OR4DA_HUMAN	L	83	ENSP00000436424:V83L	ENSP00000436424:V83L	V	+	1	0	OR4D10	59001725	0.000000	0.05858	0.002000	0.10522	0.008000	0.06430	-1.799000	0.01746	0.026000	0.15269	-0.291000	0.09656	GTG			0.428	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000394235.1		NM_001004705	
ZP1	22917	mdanderson.org	37	11	60642677	60642677	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:60642677G>T	ENST00000278853.5	+	11	1730	c.1730G>T	c.(1729-1731)gGc>gTc	p.G577V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	577					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGCCAGTGGGCTTTGAGGAT	0.607																																					p.G577V													.	.			0			c.G1730T												47.0	49.0	48.0					11																	60642677		2203	4299	6502	SO:0001583	missense	22917	exon11			CAGTGGGCTTTGA	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1730G>T	11.37:g.60642677G>T	ENSP00000278853:p.Gly577Val		53	0	0		39	0.08	3	NM_207341	0		0		Missense_Mutation	SNP	ENST00000278853.5	37	CCDS31572.1	.	.	.	.	.	.	.	.	.	.	G	9.633	1.136987	0.21123	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	T	0.22539	1.95	5.7	2.85	0.33270	.	0.599493	0.18039	N	0.153685	T	0.13200	0.0320	L	0.27053	0.805	0.47994	D	0.999568	B	0.15473	0.013	B	0.14023	0.01	T	0.08391	-1.0724	10	0.30854	T	0.27	-12.4434	7.4159	0.27044	0.253:0.0:0.747:0.0	.	577	P60852	ZP1_HUMAN	V	577;284	ENSP00000278853:G577V	ENSP00000278853:G577V	G	+	2	0	ZP1	60399253	0.998000	0.40836	0.997000	0.53966	0.949000	0.60115	0.437000	0.21543	0.769000	0.33313	0.655000	0.94253	GGC			0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396329.1		NM_207341	
PITPNM1	9600	mdanderson.org	37	11	67267769	67267769	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:67267769C>T	ENST00000534749.1	-	5	952	c.764G>A	c.(763-765)cGc>cAc	p.R255H	PITPNM1_ENST00000436757.2_Missense_Mutation_p.R255H|PITPNM1_ENST00000356404.3_Missense_Mutation_p.R255H			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	255					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CTTGGCCATGCGCTGGGCCAG	0.687																																					p.R255H	GBM(28;144 709 4607 5525)												.	.			0			c.G764A												70.0	72.0	71.0					11																	67267769		2199	4291	6490	SO:0001583	missense	9600	exon6			GCCATGCGCTGGG	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.764G>A	11.37:g.67267769C>T	ENSP00000437286:p.Arg255His		61	0	0		49	0.06	3	NM_001130848	38	0.00	0	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Missense_Mutation	SNP	ENST00000534749.1	37	CCDS31620.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.298338	0.81025	.	.	ENSG00000110697	ENST00000534749;ENST00000436757;ENST00000356404	T;T;T	0.42900	0.96;0.96;0.96	4.02	3.1	0.35709	START-like domain (1);	0.152044	0.30584	N	0.009309	T	0.30665	0.0772	N	0.08118	0	0.34701	D	0.726782	D;D	0.65815	0.994;0.995	P;P	0.56088	0.781;0.791	T	0.41233	-0.9520	10	0.72032	D	0.01	-24.1027	4.6015	0.12356	0.0:0.7164:0.0:0.2836	.	255;255	O00562-2;O00562	.;PITM1_HUMAN	H	255	ENSP00000437286:R255H;ENSP00000398787:R255H;ENSP00000348772:R255H	ENSP00000348772:R255H	R	-	2	0	PITPNM1	67024345	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.515000	0.60489	2.256000	0.74724	0.555000	0.69702	CGC			0.687	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395520.1		NM_004910	
CNTN5	53942	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	11	100211902	100211902	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:100211902C>A	ENST00000524871.1	+	23	3285	c.2995C>A	c.(2995-2997)Cca>Aca	p.P999T	CNTN5_ENST00000418526.2_Missense_Mutation_p.P925T|CNTN5_ENST00000279463.3_Missense_Mutation_p.P999T|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.P999T	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	999	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		ACCCGTCATACCATTAGCCAA	0.438																																					p.P999T													CNTN5_ENST00000524871,bladder,carcinoma,-2,2	CNTN5_ENST00000524871	-2	2	0			c.C2995A												145.0	144.0	145.0					11																	100211902		1873	4110	5983	SO:0001583	missense	53942	exon22			GTCATACCATTAG	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.2995C>A	11.37:g.100211902C>A	ENSP00000435637:p.Pro999Thr		272	0	0		114	0.09	10	NM_001243270	0		0	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	4.595	0.110522	0.08780	.	.	ENSG00000149972	ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	T;T;T;T	0.74632	-0.86;-0.86;-0.86;-0.86	5.46	4.54	0.55810	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.167028	0.53938	D	0.000051	T	0.63838	0.2545	L	0.41824	1.3	0.42835	D	0.994038	B;P	0.34462	0.4;0.454	B;B	0.34931	0.085;0.192	T	0.60464	-0.7258	9	.	.	.	.	9.9005	0.41344	0.0:0.8431:0.0:0.1569	.	925;999	O94779-2;O94779	.;CNTN5_HUMAN	T	999;999;925;999	ENSP00000436185:P999T;ENSP00000435637:P999T;ENSP00000393229:P925T;ENSP00000279463:P999T	.	P	+	1	0	CNTN5	99717112	1.000000	0.71417	0.077000	0.20336	0.386000	0.30323	1.859000	0.39418	1.283000	0.44513	0.655000	0.94253	CCA			0.438	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000395148.2		NM_014361	
ARHGEF12	23365	mdanderson.org	37	11	120302598	120302598	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr11:120302598G>T	ENST00000397843.2	+	11	1068	c.902G>T	c.(901-903)cGg>cTg	p.R301L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R282L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R198L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	301					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GATGCTTCTCGGCCCAGTAGT	0.443			T	MLL	AML																																p.R301L				Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	.			0			c.G902T												137.0	132.0	134.0					11																	120302598		1923	4127	6050	SO:0001583	missense	23365	exon11			CTTCTCGGCCCAG	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.902G>T	11.37:g.120302598G>T	ENSP00000380942:p.Arg301Leu		116	0	0		47	0.06	3	NM_015313	11	0.00	0	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921162	0.33908	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.67345	-0.15;-0.26;-0.15	5.54	5.54	0.83059	.	0.000000	0.38959	N	0.001502	T	0.63663	0.2530	L	0.56769	1.78	0.49687	D	0.999816	B;B;B	0.17667	0.001;0.023;0.013	B;B;B	0.22753	0.002;0.041;0.018	T	0.59091	-0.7519	10	0.11182	T	0.66	-7.3865	18.4097	0.90548	0.0:0.0:1.0:0.0	.	198;282;301	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	301;282;198	ENSP00000380942:R301L;ENSP00000349056:R282L;ENSP00000432984:R198L	ENSP00000349056:R282L	R	+	2	0	ARHGEF12	119807808	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.113000	0.71553	2.760000	0.94817	0.591000	0.81541	CGG			0.443	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000388052.1		NM_015313	
PPFIA2	8499	mdanderson.org	37	12	81671111	81671111	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr12:81671111G>T	ENST00000549396.1	-	28	3455	c.3295C>A	c.(3295-3297)Caa>Aaa	p.Q1099K	PPFIA2_ENST00000550359.2_Missense_Mutation_p.Q946K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.Q998K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.Q994K|PPFIA2_ENST00000549325.1_Missense_Mutation_p.Q1084K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.Q1099K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.Q1078K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.Q1087K|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Missense_Mutation_p.Q635K|PPFIA2_ENST00000541017.1_Missense_Mutation_p.Q285K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.Q1093K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1099					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATTTCATGTTGGCTTGCTTCC	0.279																																					p.Q1099K													.	.			0			c.C3295A												130.0	119.0	122.0					12																	81671111		1802	4058	5860	SO:0001583	missense	8499	exon28			CATGTTGGCTTGC	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3295C>A	12.37:g.81671111G>T	ENSP00000450337:p.Gln1099Lys		81	0	0		45	0.07	3	NM_003625	0		0	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900464	0.92035	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.95	5.95	0.96441	Sterile alpha motif/pointed domain (2);	0.136485	0.51477	D	0.000096	T	0.64080	0.2566	M	0.84948	2.725	0.80722	D	1	P	0.49696	0.927	P	0.52856	0.711	T	0.67110	-0.5753	10	0.56958	D	0.05	-20.7406	19.9836	0.97340	0.0:0.0:1.0:0.0	.	1099	O75334	LIPA2_HUMAN	K	1099;1084;635;285;998;1110;1087;1093;994;1078	ENSP00000450337:Q1099K;ENSP00000450298:Q1084K;ENSP00000438337:Q635K;ENSP00000445532:Q285K;ENSP00000385093:Q998K;ENSP00000327416:Q1087K;ENSP00000449338:Q1093K;ENSP00000388373:Q994K;ENSP00000447868:Q1078K	ENSP00000327416:Q1087K	Q	-	1	0	PPFIA2	80195242	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.429000	0.97481	2.824000	0.97209	0.655000	0.94253	CAA			0.279	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408030.1			
RP11-478C19.2	0	broad.mit.edu	37	12	110868215	110868216	+	RNA	DEL	GT	GT	-	rs113592903		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr12:110868215_110868216delGT	ENST00000550231.1	-	0	97																											CAgtgtgtgcgtgtgtgtgtgt	0.49																																					.													.	.			0			.																																											0	.			GTGTGCGTGTGTG																													12.37:g.110868225_110868226delGT			5	0	0		9	0.33	3	.	0		0		RNA	DEL	ENST00000550231.1	37																																																																																						0.490	RP11-478C19.2-001	KNOWN	basic|readthrough_transcript	retained_intron	processed_transcript		OTTHUMT00000404601.1			
DDX24	57062	broad.mit.edu;bcgsc.ca;mdanderson.org	37	14	94545823	94545823	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr14:94545823T>C	ENST00000330836.5	-	2	397	c.266A>G	c.(265-267)gAg>gGg	p.E89G	IFI27L1_ENST00000557218.1_5'Flank|IFI27L1_ENST00000557066.1_5'Flank|IFI27L1_ENST00000554544.1_5'Flank|IFI27L1_ENST00000555523.1_5'Flank|DDX24_ENST00000555054.1_Missense_Mutation_p.E46G|IFI27L1_ENST00000393115.3_5'Flank|IFI27L1_ENST00000553664.1_5'Flank|DDX24_ENST00000544005.1_Intron|IFI27L1_ENST00000556381.1_5'Flank	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AGACTTTCCCTCCTCCTCCTC	0.438																																					p.E89G													.	DDX24	82		0			c.A266G												169.0	164.0	166.0					14																	94545823		2203	4300	6503	SO:0001583	missense	57062	exon2			TTTCCCTCCTCCT	AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.266A>G	14.37:g.94545823T>C	ENSP00000328690:p.Glu89Gly		148	0.0067567568	1		119	0.06	7	NM_020414	325	0.00	0	E7EMJ4|Q4V9L5	Missense_Mutation	SNP	ENST00000330836.5	37	CCDS9918.1	.	.	.	.	.	.	.	.	.	.	T	6.591	0.477437	0.12521	.	.	ENSG00000089737	ENST00000330836;ENST00000440370;ENST00000555054;ENST00000542247	T;T	0.04194	3.68;3.74	0.432	0.432	0.16529	.	0.433874	0.28476	N	0.015210	T	0.04272	0.0118	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.35025	-0.9805	9	0.39692	T	0.17	-28.5288	.	.	.	.	89	Q9GZR7	DDX24_HUMAN	G	89;89;46;46	ENSP00000328690:E89G;ENSP00000452145:E46G	ENSP00000328690:E89G	E	-	2	0	DDX24	93615576	0.969000	0.33509	0.684000	0.30055	0.939000	0.58152	0.118000	0.15605	0.420000	0.25954	0.102000	0.15555	GAG			0.438	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412861.1		NM_020414	
SV2B	9899	mdanderson.org	37	15	91809917	91809917	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr15:91809917A>G	ENST00000394232.1	+	7	1584	c.1114A>G	c.(1114-1116)Aag>Gag	p.K372E	SV2B_ENST00000545111.2_Missense_Mutation_p.K221E|SV2B_ENST00000330276.4_Missense_Mutation_p.K372E	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	372					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACCATTTTCAAGCAGGTATG	0.448																																					p.K372E													.	.			0			c.A1114G												58.0	56.0	57.0					15																	91809917		2198	4298	6496	SO:0001583	missense	9899	exon8			ATTTTCAAGCAGG	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1114A>G	15.37:g.91809917A>G	ENSP00000377779:p.Lys372Glu		66	0	0		46	0.07	3	NM_014848	1	0.00	0	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	A	5.997	0.367866	0.11352	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.62105	0.05;0.05;0.05	5.3	5.3	0.74995	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.090109	0.85682	D	0.000000	T	0.59582	0.2204	M	0.62723	1.935	0.52099	D	0.999942	B	0.19935	0.04	B	0.29440	0.102	T	0.55218	-0.8175	10	0.12103	T	0.63	-27.1952	14.0585	0.64786	1.0:0.0:0.0:0.0	.	372	Q7L1I2	SV2B_HUMAN	E	221;372;372	ENSP00000443243:K221E;ENSP00000377779:K372E;ENSP00000332818:K372E	ENSP00000332818:K372E	K	+	1	0	SV2B	89610921	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.585000	0.67497	1.995000	0.58328	0.533000	0.62120	AAG			0.448	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313494.3		NM_014848	
TTC23	64927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	99740253	99740253	+	Silent	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr15:99740253T>C	ENST00000394132.2	-	9	1447	c.630A>G	c.(628-630)caA>caG	p.Q210Q	TTC23_ENST00000394130.1_Silent_p.Q210Q|TTC23_ENST00000558613.1_Silent_p.Q210Q|TTC23_ENST00000558663.1_Silent_p.Q210Q|TTC23_ENST00000394135.3_Silent_p.Q210Q|TTC23_ENST00000262074.4_Silent_p.Q210Q|TTC23_ENST00000394136.1_Silent_p.Q210Q|TTC23_ENST00000394129.2_Silent_p.Q210Q			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	210										endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CCAAAGCTGCTTGATAGTGGG	0.363																																					p.Q210Q													.	.			0			c.A630G												188.0	169.0	176.0					15																	99740253		2197	4297	6494	SO:0001819	synonymous_variant	64927	exon7			AGCTGCTTGATAG		CCDS10379.2	15q26.3	2013-01-11			ENSG00000103852	ENSG00000103852		"""Tetratricopeptide (TTC) repeat domain containing"""	25730	protein-coding gene	gene with protein product						12477932	Standard	NM_001288615		Approved	FLJ12572, HCC-8	uc002bux.3	Q5W5X9	OTTHUMG00000147344	ENST00000394132.2:c.630A>G	15.37:g.99740253T>C			147	0	0		74	0.24	18	NM_001040657	5	0.40	2	A8K6M5|Q53HK0|Q96BC9|Q9H8W9|Q9H9S7	Silent	SNP	ENST00000394132.2	37	CCDS10379.2																																																																																					0.363	TTC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000303953.2		NM_022905	
PPL	5493	mdanderson.org	37	16	4949240	4949240	+	Missense_Mutation	SNP	C	C	T	rs61734749	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:4949240C>T	ENST00000345988.2	-	7	841	c.752G>A	c.(751-753)cGc>cAc	p.R251H	PPL_ENST00000590782.2_Missense_Mutation_p.R249H	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	251					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTGGCGCCGGCGGCTGGGGTA	0.672													C|||	53	0.0105831	0.0401	0.0	5008	,	,		16057	0.0		0.0	False		,,,				2504	0.0				p.R251H													.	.			0			c.G752A							C	HIS/ARG	106,4288	82.9+/-121.4	1,104,2092	38.0	36.0	37.0		752	5.2	1.0	16	dbSNP_129	37	5,8595	4.3+/-15.6	0,5,4295	yes	missense	PPL	NM_002705.4	29	1,109,6387	TT,TC,CC		0.0581,2.4124,0.8542	probably-damaging	251/1757	4949240	111,12883	2197	4300	6497	SO:0001583	missense	5493	exon7			CGCCGGCGGCTGG	AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.752G>A	16.37:g.4949240C>T	ENSP00000340510:p.Arg251His		49	0	0		51	0.06	3	NM_002705	2	0.00	0	O60314|O60454|Q14C98	Missense_Mutation	SNP	ENST00000345988.2	37	CCDS10526.1	15	0.006868131868131868	15	0.03048780487804878	0	0.0	0	0.0	0	0.0	C	29.1	4.978303	0.92982	0.024124	5.81E-4	ENSG00000118898	ENST00000345988	D	0.92647	-3.08	5.25	5.25	0.73442	.	0.065053	0.64402	D	0.000006	T	0.82217	0.4989	L	0.55481	1.735	0.80722	D	1	D	0.57571	0.98	P	0.46339	0.513	D	0.86311	0.1686	10	0.45353	T	0.12	.	18.4656	0.90753	0.0:1.0:0.0:0.0	.	251	O60437	PEPL_HUMAN	H	251	ENSP00000340510:R251H	ENSP00000340510:R251H	R	-	2	0	PPL	4889241	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.724000	0.84798	2.459000	0.83118	0.561000	0.74099	CGC	0.009		0.672	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000251715.1		NM_002705	
DNAH3	55567	mdanderson.org	37	16	21132080	21132080	+	Silent	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:21132080C>T	ENST00000261383.3	-	11	1679	c.1680G>A	c.(1678-1680)gcG>gcA	p.A560A	DNAH3_ENST00000415178.1_Silent_p.A560A|CTC-508F8.1_ENST00000575612.1_RNA	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	560	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CAGTGGCAGCCGCGTGCATGC	0.502																																					p.A560A													DNAH3_ENST00000261383,bladder,carcinoma,-2,4	DNAH3_ENST00000261383	-2	4	0			c.G1680A												66.0	58.0	61.0					16																	21132080		2201	4300	6501	SO:0001819	synonymous_variant	55567	exon11			GGCAGCCGCGTGC	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1680G>A	16.37:g.21132080C>T			74	0	0		30	0.07	2	NM_017539	0		0	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																					0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207361.1		NM_017539	
ARMC5	79798	mdanderson.org	37	16	31470916	31470916	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:31470916G>T	ENST00000563544.1	+	2	617	c.71G>T	c.(70-72)gGg>gTg	p.G24V	ARMC5_ENST00000408912.3_Missense_Mutation_p.G119V|ARMC5_ENST00000412665.2_5'Flank|ARMC5_ENST00000268314.4_Missense_Mutation_p.G24V|ARMC5_ENST00000457010.2_Missense_Mutation_p.G24V|ARMC5_ENST00000538189.1_Missense_Mutation_p.G56V|RP11-452L6.5_ENST00000564629.1_RNA			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	24										central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GCGGCGGCCGGGGAGGCTCTG	0.716																																					p.G24V													.	.			0			c.G71T												10.0	16.0	14.0					16																	31470916		1900	4090	5990	SO:0001583	missense	79798	exon1			CGGCCGGGGAGGC	AY217348	CCDS42155.1, CCDS45472.1, CCDS73874.1	16p11	2013-02-14			ENSG00000140691	ENSG00000140691		"""Armadillo repeat containing"""	25781	protein-coding gene	gene with protein product		615549					Standard	NM_024742		Approved	FLJ13063	uc002ecc.3	Q96C12	OTTHUMG00000176618	ENST00000563544.1:c.71G>T	16.37:g.31470916G>T	ENSP00000456877:p.Gly24Val		23	0	0		22	0.09	2	NM_001105247	3	0.00	0	Q86WM9|Q9H7P8|Q9H925	Missense_Mutation	SNP	ENST00000563544.1	37	CCDS45472.1	.	.	.	.	.	.	.	.	.	.	g	16.10	3.028091	0.54790	.	.	ENSG00000140691	ENST00000408912;ENST00000538189;ENST00000268314;ENST00000457010	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	4.62	1.29	0.21616	.	.	.	.	.	T	0.25306	0.0615	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B	0.19331	0.004;0.004;0.008;0.003;0.035	B;B;B;B;B	0.20767	0.012;0.012;0.012;0.012;0.031	T	0.05869	-1.0859	9	0.28530	T	0.3	.	3.5587	0.07874	0.2134:0.0:0.4976:0.289	.	56;56;119;24;24	B4DH27;F5H156;B4DIU9;Q96C12;Q96C12-4	.;.;.;ARMC5_HUMAN;.	V	119;56;24;24	ENSP00000386125:G119V;ENSP00000443995:G56V;ENSP00000268314:G24V;ENSP00000399561:G24V	ENSP00000268314:G24V	G	+	2	0	ARMC5	31378417	0.971000	0.33674	1.000000	0.80357	0.988000	0.76386	1.038000	0.30254	0.564000	0.29238	0.655000	0.94253	GGG			0.716	ARMC5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000432847.1		NM_024742	
RP11-44F14.1	0	broad.mit.edu	37	16	53404542	53404543	+	RNA	INS	-	-	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:53404542_53404543insA	ENST00000565421.1	-	0	410																											TCTCCTTTCTCAAACTTAACCT	0.327																																					.													.	.			0			.																																											0	.			CTTTCTCAAACTT																													16.37:g.53404545_53404545dupA			16	0.0625	1		6	0.33	2	.	0		0		RNA	INS	ENST00000565421.1	37																																																																																						0.327	RP11-44F14.1-002	KNOWN	basic	retained_intron	pseudogene		OTTHUMT00000422364.2			
HSF4	3299	mdanderson.org	37	16	67201672	67201672	+	Missense_Mutation	SNP	G	G	T	rs568361323		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr16:67201672G>T	ENST00000521374.1	+	9	904	c.904G>T	c.(904-906)Gat>Tat	p.D302Y	NOL3_ENST00000564053.1_5'Flank|HSF4_ENST00000264009.8_Missense_Mutation_p.D302Y|HSF4_ENST00000421453.1_Intron|HSF4_ENST00000584272.1_Intron|NOL3_ENST00000432069.2_5'Flank			Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	302	Interactions with DUSP26, MAPK1 and MAPK2.				camera-type eye development (GO:0043010)|cell development (GO:0048468)|histone H3-K9 demethylation (GO:0033169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotrimerization (GO:0070207)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCCAGGGGGGGATGGCGAGGC	0.647																																					p.D302Y													HSF4,NS,carcinoma,-2,1	HSF4	-2	1	0			c.G904T												13.0	19.0	17.0					16																	67201672		1891	4099	5990	SO:0001583	missense	3299	exon11			GGGGGGGATGGCG	D87673	CCDS42175.1, CCDS45510.1	16q21	2013-01-22			ENSG00000102878	ENSG00000102878			5227	protein-coding gene	gene with protein product		602438	"""cataract, Marner"""	CTM		8972228, 10488131, 12089525	Standard	NM_001538		Approved		uc002erl.2	Q9ULV5	OTTHUMG00000178325	ENST00000521374.1:c.904G>T	16.37:g.67201672G>T	ENSP00000430947:p.Asp302Tyr		52	0	0		29	0.10	3	NM_001040667	0		0	Q99472|Q9ULV6	Missense_Mutation	SNP	ENST00000521374.1	37	CCDS42175.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.519607	0.44866	.	.	ENSG00000102878	ENST00000264009;ENST00000521374	.	.	.	4.98	1.56	0.23342	.	0.812183	0.11595	N	0.548352	T	0.26629	0.0651	N	0.22421	0.69	0.80722	D	1	P	0.34462	0.454	B	0.27887	0.084	T	0.13575	-1.0504	9	0.59425	D	0.04	-1.2279	3.1106	0.06357	0.3437:0.2208:0.4355:0.0	.	302	Q9ULV5	HSF4_HUMAN	Y	302	.	ENSP00000264009:D302Y	D	+	1	0	HSF4	65759173	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.798000	0.27014	0.565000	0.29255	0.561000	0.74099	GAT			0.647	HSF4-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000375080.1		NM_001538	
TMEM256-PLSCR3	100529211	mdanderson.org	37	17	7296551	7296551	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr17:7296551C>T	ENST00000576362.1	-	4	576	c.419G>A	c.(418-420)cGc>cAc	p.R140H	TMEM256-PLSCR3_ENST00000576201.1_Missense_Mutation_p.R140H|TMEM256-PLSCR3_ENST00000535512.1_Missense_Mutation_p.R140H|TMEM256-PLSCR3_ENST00000324822.11_Missense_Mutation_p.R140H|C17orf61-PLSCR3_ENST00000573331.1_3'UTR|TMEM256-PLSCR3_ENST00000574401.1_Missense_Mutation_p.R140H					TMEM256-PLSCR3 readthrough (NMD candidate)																		GTCGGCCAGGCGGACACGCAG	0.751																																					p.R140H													.	.			0			c.G419A												5.0	8.0	7.0					17																	7296551		1623	3569	5192	SO:0001583	missense	57048	exon5			GCCAGGCGGACAC			17p13.1	2013-09-25			ENSG00000187838	ENSG00000187838			49186	other	readthrough							Standard	NR_037719		Approved				OTTHUMG00000178150	ENST00000576362.1:c.419G>A	17.37:g.7296551C>T	ENSP00000460800:p.Arg140His		20	0	0		20	0.15	3	NM_020360	34	0.00	0		Missense_Mutation	SNP	ENST00000576362.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.098425|4.098425	0.76870|0.76870	.|.	.|.	ENSG00000187838|ENSG00000187838	ENST00000380658|ENST00000535512;ENST00000324822	.|T;T	.|0.23348	.|1.91;1.91	5.64|5.64	4.67|4.67	0.58626|0.58626	.|.	.|0.111999	.|0.64402	.|D	.|0.000009	T|T	0.29524|0.29524	0.0736|0.0736	N|N	0.17674|0.17674	0.51|0.51	0.27152|0.27152	N|N	0.961386|0.961386	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.63877	.|0.919;0.919	T|T	0.05954|0.05954	-1.0854|-1.0854	6|10	0.66056|0.52906	D|T	0.02|0.07	-24.5148|-24.5148	8.1375|8.1375	0.31063|0.31063	0.0:0.7574:0.1585:0.0841|0.0:0.7574:0.1585:0.0841	.|.	.|140;195	.|Q9NRY6;D3DTP7	.|PLS3_HUMAN;.	T|H	140|140	.|ENSP00000438547:R140H;ENSP00000316021:R140H	ENSP00000370033:A140T|ENSP00000316021:R140H	A|R	-|-	1|2	0|0	PLSCR3|PLSCR3	7237275|7237275	1.000000|1.000000	0.71417|0.71417	0.787000|0.787000	0.31911|0.31911	0.869000|0.869000	0.49853|0.49853	2.845000|2.845000	0.48254|0.48254	1.399000|1.399000	0.46721|0.46721	0.591000|0.591000	0.81541|0.81541	GCC|CGC			0.751	TMEM256-PLSCR3-008	NOVEL	basic|exp_conf	protein_coding	protein_coding		OTTHUMT00000440808.1			
CUEDC1	404093	broad.mit.edu	37	17	55962851	55962851	+	Silent	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr17:55962851T>C	ENST00000577830.1	-	2	488	c.75A>G	c.(73-75)ggA>ggG	p.G25G	CUEDC1_ENST00000360238.2_Silent_p.G25G|CUEDC1_ENST00000577840.1_Intron|CUEDC1_ENST00000407144.2_Silent_p.G25G	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	25										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						cggccgtgcctcccccgcccc	0.706																																					p.G25G													.	CUEDC1	37		0			c.A75G												11.0	14.0	13.0					17																	55962851		2171	4267	6438	SO:0001819	synonymous_variant	404093	exon2			CGTGCCTCCCCCG	AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.75A>G	17.37:g.55962851T>C			25	0.28	7		34	0.29	10	NM_001271875	2	0.00	0	D3DTZ2|Q9NWD0	Silent	SNP	ENST00000577830.1	37	CCDS11599.1																																																																																					0.706	CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000443305.1		NM_017949	
MIER2	54531	broad.mit.edu	37	19	327235	327235	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:327235G>A	ENST00000264819.4	-	5	401	c.391C>T	c.(391-393)Ctt>Ttt	p.L131F	MIER2_ENST00000592722.1_5'Flank	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	131					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCTGAAAGCAAATCCTTC	0.433																																					p.L131F													.	MIER2	51		0			c.C391T												228.0	219.0	222.0					19																	327235		2203	4300	6503	SO:0001583	missense	54531	exon5			CTGAAAGCAAATC	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.391C>T	19.37:g.327235G>A	ENSP00000264819:p.Leu131Phe		101	0.0594059406	6		95	0.12	11	NM_017550	202	0.00	0	Q9ULM7	Missense_Mutation	SNP	ENST00000264819.4	37	CCDS32855.1	.	.	.	.	.	.	.	.	.	.	.	17.95	3.513315	0.64522	.	.	ENSG00000105556	ENST00000264819	T	0.36157	1.27	5.14	4.1	0.47936	.	0.000000	0.43416	D	0.000567	T	0.37758	0.1015	M	0.63428	1.95	0.49130	D	0.999756	P	0.44044	0.825	B	0.41764	0.366	T	0.33727	-0.9857	10	0.72032	D	0.01	-16.4891	11.2349	0.48933	0.0846:0.0:0.9154:0.0	.	131	Q8N344	MIER2_HUMAN	F	131	ENSP00000264819:L131F	ENSP00000264819:L131F	L	-	1	0	MIER2	278235	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	5.015000	0.64035	1.173000	0.42796	0.555000	0.69702	CTT			0.433	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451784.1		XM_041843	
SEMA6B	10501	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	4546434	4546434	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:4546434C>T	ENST00000586582.1	-	15	1959	c.1649G>A	c.(1648-1650)gGc>gAc	p.G550D	SEMA6B_ENST00000586965.1_Missense_Mutation_p.G550D|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.G550D	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	550					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGCAGGAGCCGTCGGGGGC	0.627																																					p.G550D													.	.			0			c.G1649A												20.0	21.0	21.0					19																	4546434		2198	4294	6492	SO:0001583	missense	10501	exon15			CAGGAGCCGTCGG	AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1649G>A	19.37:g.4546434C>T	ENSP00000467290:p.Gly550Asp		98	0	0		122	0.06	7	NM_032108	130	0.15	19	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	ENST00000586582.1	37	CCDS12131.1	.	.	.	.	.	.	.	.	.	.	.	12.74	2.027569	0.35797	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.20738	2.05	3.66	3.66	0.41972	.	0.316061	0.29508	U	0.011946	T	0.15696	0.0378	L	0.28115	0.83	0.32870	D	0.509107	B	0.15719	0.014	B	0.21546	0.035	T	0.10636	-1.0621	10	0.56958	D	0.05	.	11.0624	0.47955	0.0:1.0:0.0:0.0	.	550	Q9H3T3	SEM6B_HUMAN	D	550	ENSP00000301293:G550D	ENSP00000301292:G550D	G	-	2	0	SEMA6B	4497434	0.998000	0.40836	0.962000	0.40283	0.470000	0.32858	4.706000	0.61845	2.052000	0.61016	0.484000	0.47621	GGC			0.627	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458656.2		NM_032108	
TIMM44	10469	broad.mit.edu	37	19	7998441	7998441	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:7998441A>C	ENST00000270538.3	-	7	966	c.698T>G	c.(697-699)gTc>gGc	p.V233G	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	233					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GTGCAGCACGACCCCCAGGGC	0.652																																					p.V233G													.	TIMM44	47		0			c.T698G												188.0	179.0	182.0					19																	7998441		2203	4300	6503	SO:0001583	missense	10469	exon7			AGCACGACCCCCA	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.698T>G	19.37:g.7998441A>C	ENSP00000270538:p.Val233Gly		159	0.0691823899	11		226	0.11	25	NM_006351	220	0.00	1	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.219949	0.79464	.	.	ENSG00000104980	ENST00000270538	T	0.80994	-1.44	5.0	5.0	0.66597	.	0.176011	0.48767	D	0.000175	D	0.87869	0.6286	M	0.87097	2.86	0.80722	D	1	D	0.53619	0.961	P	0.54629	0.757	D	0.89952	0.4080	10	0.87932	D	0	-39.2763	12.6414	0.56712	1.0:0.0:0.0:0.0	.	233	O43615	TIM44_HUMAN	G	233	ENSP00000270538:V233G	ENSP00000270538:V233G	V	-	2	0	TIMM44	7904441	0.996000	0.38824	0.974000	0.42286	0.849000	0.48306	8.559000	0.90708	1.892000	0.54788	0.459000	0.35465	GTC			0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461596.3			
RFX1	5989	mdanderson.org	37	19	14091461	14091461	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:14091461G>A	ENST00000254325.4	-	6	896	c.662C>T	c.(661-663)gCc>gTc	p.A221V		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	221					immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GGGGGCCCCGGCTGTCTTGCT	0.672																																					p.A221V													.	.			0			c.C662T												30.0	29.0	29.0					19																	14091461		2198	4297	6495	SO:0001583	missense	5989	exon6			GCCCCGGCTGTCT		CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.662C>T	19.37:g.14091461G>A	ENSP00000254325:p.Ala221Val		25	0	0		26	0.12	3	NM_002918	17	0.00	0		Missense_Mutation	SNP	ENST00000254325.4	37	CCDS12301.1	.	.	.	.	.	.	.	.	.	.	G	9.014	0.983222	0.18889	.	.	ENSG00000132005	ENST00000254325	T	0.33438	1.41	3.98	2.93	0.34026	RFX1 transcription activation region (1);	0.178108	0.34700	N	0.003741	T	0.17619	0.0423	N	0.08118	0	0.09310	N	1	B	0.23937	0.094	B	0.35182	0.197	T	0.19679	-1.0298	10	0.49607	T	0.09	-14.174	7.1129	0.25401	0.0:0.1911:0.6115:0.1974	.	221	P22670	RFX1_HUMAN	V	221	ENSP00000254325:A221V	ENSP00000254325:A221V	A	-	2	0	RFX1	13952461	0.206000	0.23470	0.079000	0.20413	0.043000	0.13939	2.007000	0.40883	1.247000	0.43917	0.655000	0.94253	GCC			0.672	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458510.1		NM_002918	
ARHGAP33	115703	broad.mit.edu	37	19	36268760	36268760	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:36268760G>A	ENST00000007510.4	+	3	283	c.139G>A	c.(139-141)Gct>Act	p.A47T	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.A47T|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000378944.5_De_novo_Start_OutOfFrame			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	47					protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CCCGCGGCTGGCTGACTGCGC	0.592																																					p.A47T													.	ARHGAP33	102		0			c.G139A												89.0	92.0	91.0					19																	36268760		2203	4300	6503	SO:0001583	missense	115703	exon3			CGGCTGGCTGACT	AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.139G>A	19.37:g.36268760G>A	ENSP00000007510:p.Ala47Thr		170	0	0		156	0.03	4	NM_052948	29	0.00	0	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Translation_Start_Site	SNP	ENST00000007510.4	37		.	.	.	.	.	.	.	.	.	.	G	19.92	3.916475	0.73098	.	.	ENSG00000004777	ENST00000007510;ENST00000314737;ENST00000221905	T;T	0.11495	3.13;2.77	5.09	5.09	0.68999	.	0.259028	0.29853	N	0.011030	T	0.16128	0.0388	L	0.47190	1.495	0.44619	D	0.997596	P;P	0.46142	0.873;0.859	B;P	0.48677	0.319;0.586	T	0.00303	-1.1833	10	0.49607	T	0.09	.	11.9507	0.52954	0.0854:0.0:0.9146:0.0	.	65;47	O14559-12;O14559-11	.;.	T	47;47;65	ENSP00000007510:A47T;ENSP00000320038:A47T	ENSP00000007510:A47T	A	+	1	0	ARHGAP33	40960600	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.636000	0.67848	2.549000	0.85964	0.556000	0.70494	GCT			0.592	ARHGAP33-201	KNOWN	basic	protein_coding	protein_coding				NM_052948	
SYMPK	8189	broad.mit.edu	37	19	46319285	46319285	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr19:46319285A>G	ENST00000245934.7	-	26	3755	c.3511T>C	c.(3511-3513)Tcc>Ccc	p.S1171P	SYMPK_ENST00000598155.1_5'UTR|RSPH6A_ENST00000597055.1_5'Flank|RSPH6A_ENST00000221538.3_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1171	Poly-Ser.				cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ggagagggggaggaagaggAG	0.682																																					p.S1171P													.	SYMPK	104		0			c.T3511C												5.0	6.0	5.0					19																	46319285		2072	4045	6117	SO:0001583	missense	8189	exon26			AGGGGGAGGAAGA	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3511T>C	19.37:g.46319285A>G	ENSP00000245934:p.Ser1171Pro		115	0.0260869565	3		125	0.04	5	NM_004819	339	0.01	3	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	A	6.550	0.469664	0.12461	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.12	-1.94	0.07571	.	1.419830	0.04997	N	0.468439	T	0.23766	0.0575	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19549	-1.0302	9	0.42905	T	0.14	.	4.3748	0.11265	0.3456:0.333:0.3214:0.0	.	1171	Q92797	SYMPK_HUMAN	P	1171	.	ENSP00000245934:S1171P	S	-	1	0	SYMPK	51011125	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-1.016000	0.03633	-0.292000	0.08999	0.386000	0.25728	TCC			0.682	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316581.1		NM_004819	
WDR43	23160	mdanderson.org	37	2	29158442	29158442	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr2:29158442C>A	ENST00000407426.3	+	12	1549	c.1493C>A	c.(1492-1494)cCc>cAc	p.P498H		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	498						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					TTAAGGATGCCCCTGCATACT	0.338																																					p.P498H													.	.			0			c.C1493A												117.0	109.0	112.0					2																	29158442		1826	4080	5906	SO:0001583	missense	23160	exon12			GGATGCCCCTGCA	D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1493C>A	2.37:g.29158442C>A	ENSP00000384302:p.Pro498His		117	0	0		44	0.07	3	NM_015131	116	0.00	0	Q15395|Q92577	Missense_Mutation	SNP	ENST00000407426.3	37	CCDS46251.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.35|16.35	3.097333|3.097333	0.56075|0.56075	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000407426|ENST00000446643	T|.	0.79352|.	-1.26|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.84401|0.84401	0.5464|0.5464	M|M	0.89785|0.89785	3.06|3.06	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.83854|0.83854	0.0264|0.0264	10|7	0.52906|0.35671	T|T	0.07|0.21	-8.9694|-8.9694	19.7203|19.7203	0.96139|0.96139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	498|.	Q15061|.	WDR43_HUMAN|.	H|T	498|50	ENSP00000384302:P498H|.	ENSP00000384302:P498H|ENSP00000406083:P50T	P|P	+|+	2|1	0|0	WDR43|WDR43	29011946|29011946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.104000|0.104000	0.19210|0.19210	5.634000|5.634000	0.67833|0.67833	2.832000|2.832000	0.97577|0.97577	0.655000|0.655000	0.94253|0.94253	CCC|CCC			0.338	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000324865.1		XM_087089	
SIRPA	140885	mdanderson.org	37	20	1876144	1876144	+	Silent	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr20:1876144G>T	ENST00000358771.4	+	1	203	c.51G>T	c.(49-51)ctG>ctT	p.L17L	SIRPA_ENST00000356025.3_Silent_p.L17L|SIRPA_ENST00000400068.3_Silent_p.L17L	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	17					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGCTCTGCCTGCTGCTCGCCG	0.766																																					p.L17L	GBM(155;1668 1920 5945 42733 48121)												.	.			0			c.G51T												1.0	1.0	1.0					20																	1876144		905	1736	2641	SO:0001819	synonymous_variant	140885	exon2			CTGCCTGCTGCTC	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.51G>T	20.37:g.1876144G>T			30	0	0		27	0.07	2	NM_001040022	8	0.00	0	A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Silent	SNP	ENST00000358771.4	37	CCDS13022.1																																																																																					0.766	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000077568.2		NM_080792	
PANK2	80025	mdanderson.org	37	20	3888898	3888898	+	Silent	SNP	G	G	A	rs78631398	byFrequency	TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr20:3888898G>A	ENST00000316562.4	+	2	960	c.954G>A	c.(952-954)gcG>gcA	p.A318A	PANK2_ENST00000610179.1_Silent_p.A195A|PANK2_ENST00000497424.1_Silent_p.A27A	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	318					aerobic respiration (GO:0009060)|cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|mitochondrion morphogenesis (GO:0070584)|pantothenate metabolic process (GO:0015939)|regulation of mitochondrial membrane potential (GO:0051881)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GAGGTGGAGCGTACAAATTTG	0.383													G|||	6	0.00119808	0.0008	0.0	5008	,	,		20863	0.0		0.0	False		,,,				2504	0.0051				p.A318A													.	.			0			c.G954A												92.0	87.0	88.0					20																	3888898		2203	4300	6503	SO:0001819	synonymous_variant	80025	exon2			TGGAGCGTACAAA	AK021791	CCDS13071.2, CCDS13072.1	20p13	2008-07-31	2008-07-31	2002-09-06	ENSG00000125779	ENSG00000125779	2.7.1.33		15894	protein-coding gene	gene with protein product	"""Hallervorden-Spatz syndrome"""	606157	"""neurodegeneration with brain iron accumulation 1 (Hallervorden-Spatz syndrome)"""	C20orf48, NBIA1		8944032, 11479594	Standard	XM_005260835		Approved	HSS, FLJ11729, PKAN, HARP	uc002wkc.3	Q9BZ23	OTTHUMG00000031768	ENST00000316562.4:c.954G>A	20.37:g.3888898G>A			43	0	0		33	0.09	3	NM_153638	46	0.00	0	B1AK33|B2Z3X0|D3DVZ0|Q5T7I2|Q5T7I4|Q7RTX5|Q8N7Q4|Q8TCR5|Q9BYW5|Q9HAF2	Silent	SNP	ENST00000316562.4	37	CCDS13071.2																																																																																			0.001		0.383	PANK2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000077793.2		NM_024960	
PAX1	5075	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	20	21687362	21687362	+	Silent	SNP	C	C	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr20:21687362C>A	ENST00000398485.2	+	2	627	c.573C>A	c.(571-573)atC>atA	p.I191I	PAX1_ENST00000444366.2_Silent_p.I167I|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	191	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						ACCCTGGCATCTTTGCCTGGG	0.632																																					p.I191I													PAX1_ENST00000398485,NS,carcinoma,0,2	PAX1_ENST00000398485	0	2	0			c.C573A												56.0	59.0	58.0					20																	21687362		2203	4300	6503	SO:0001819	synonymous_variant	5075	exon2			TGGCATCTTTGCC		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.573C>A	20.37:g.21687362C>A			59	0	0		87	0.24	21	NM_006192	0		0	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	CCDS13146.2																																																																																					0.632	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078282.3			
BAGE2	85319	broad.mit.edu	37	21	11072388	11072389	+	RNA	INS	-	-	T	rs139874484|rs140345115		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr21:11072388_11072389insT	ENST00000470054.1	-	0	324							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)		tggttcacgccgtgattccagc	0.505																																					.													.	.			0			.																																											85319	.			TCACGCCGTGATT	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.11072388_11072389insT			4	0	0		7	0.29	2	.	0		0	A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.505	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000157417.3		NM_182482	
SLC37A1	54020	mdanderson.org	37	21	43959638	43959638	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr21:43959638C>T	ENST00000352133.2	+	6	1349	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	SLC37A1_ENST00000398341.3_Missense_Mutation_p.R123C			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	123					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CATTGGGGAGCGCCTGCCGAT	0.522																																					p.R123C													.	.			0			c.C367T												102.0	93.0	96.0					21																	43959638		2203	4300	6503	SO:0001583	missense	54020	exon7			GGGGAGCGCCTGC	AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.367C>T	21.37:g.43959638C>T	ENSP00000344648:p.Arg123Cys		163	0	0		143	0.04	6	NM_018964	32	0.00	0	D3DSJ7|Q9HAQ1	Missense_Mutation	SNP	ENST00000352133.2	37	CCDS13689.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.227005	0.58668	.	.	ENSG00000160190	ENST00000398341;ENST00000352133	T;T	0.65916	-0.18;-0.18	4.8	3.88	0.44766	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.81356	0.4805	M	0.90425	3.115	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	D	0.85938	0.1456	10	0.87932	D	0	-9.3459	14.3761	0.66879	0.1481:0.8519:0.0:0.0	.	123	P57057	GLPT_HUMAN	C	123	ENSP00000381383:R123C;ENSP00000344648:R123C	ENSP00000344648:R123C	R	+	1	0	SLC37A1	42832707	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	7.529000	0.81952	2.223000	0.72356	0.555000	0.69702	CGC			0.522	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000195377.1			
CECR1	51816	broad.mit.edu	37	22	17684613	17684613	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:17684613G>T	ENST00000399839.1	-	4	863	c.593C>A	c.(592-594)aCa>aAa	p.T198K	CECR1_ENST00000449907.2_Missense_Mutation_p.T156K|CECR1_ENST00000262607.3_Missense_Mutation_p.T198K|CECR1_ENST00000399837.2_Missense_Mutation_p.T198K	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	198					adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				ATTTTGGTTTGTGTAAATCAC	0.498																																					p.T198K													.	CECR1	77		0			c.C593A												142.0	120.0	127.0					22																	17684613		2203	4300	6503	SO:0001583	missense	51816	exon3			TGGTTTGTGTAAA	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.593C>A	22.37:g.17684613G>T	ENSP00000382733:p.Thr198Lys		153	0	0		151	0.03	5	NM_017424	67	0.00	0	A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Missense_Mutation	SNP	ENST00000399839.1	37	CCDS13742.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.400785	0.25291	.	.	ENSG00000093072	ENST00000399839;ENST00000262607;ENST00000449907;ENST00000399837	D;D;D;D	0.81821	-1.54;-1.54;-1.54;-1.54	3.6	2.57	0.30868	Adenosine/AMP deaminase (1);	0.601209	0.16688	U	0.203665	T	0.57169	0.2035	N	0.13198	0.31	0.09310	N	1	B	0.32876	0.388	B	0.22880	0.042	T	0.43861	-0.9365	10	0.08381	T	0.77	.	8.9683	0.35890	0.1088:0.0:0.8912:0.0	.	198	Q9NZK5	CECR1_HUMAN	K	198;198;156;198	ENSP00000382733:T198K;ENSP00000262607:T198K;ENSP00000406443:T156K;ENSP00000382731:T198K	ENSP00000262607:T198K	T	-	2	0	CECR1	16064613	0.129000	0.22400	0.000000	0.03702	0.001000	0.01503	2.631000	0.46502	0.496000	0.27904	-0.157000	0.13467	ACA			0.498	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000316079.1			
CDC45	8318	mdanderson.org	37	22	19484956	19484956	+	Silent	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:19484956G>T	ENST00000407835.1	+	9	895	c.639G>T	c.(637-639)ctG>ctT	p.L213L	CDC45_ENST00000437685.2_Silent_p.L245L|CDC45_ENST00000263201.1_Silent_p.L213L|CDC45_ENST00000404724.3_Silent_p.L167L			O75419	CDC45_HUMAN	cell division cycle 45	213					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CCAAGGACCTGAATGACATGC	0.562																																					p.L245L													.	.			0			c.G735T												234.0	177.0	196.0					22																	19484956		2203	4300	6503	SO:0001819	synonymous_variant	8318	exon9			GGACCTGAATGAC	AF053074	CCDS13762.1, CCDS54499.1, CCDS54500.1	22q11.21	2013-01-17	2013-01-17	2010-03-24	ENSG00000093009	ENSG00000093009			1739	protein-coding gene	gene with protein product	"""human CDC45"""	603465	"""CDC45 (cell division cycle 45, S.cerevisiae, homolog)-like"", ""CDC45 cell division cycle 45-like (S. cerevisiae)"", ""cell division cycle 45 homolog (S. cerevisiae)"""	CDC45L2, CDC45L		9660782, 9724329, 17608804	Standard	NM_001178010		Approved		uc011aha.2	O75419	OTTHUMG00000150386	ENST00000407835.1:c.639G>T	22.37:g.19484956G>T			64	0	0		54	0.06	3	NM_001178010	119	0.01	1	B4DDB4|B4DDU3|E9PDH7|O60856|Q20WK8|Q6UW54|Q9UP68	Silent	SNP	ENST00000407835.1	37	CCDS13762.1																																																																																					0.562	CDC45-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000317903.1		NM_003504	
PIWIL3	440822	broad.mit.edu	37	22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	385	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTAGGCCCTTTTTCCATCT	0.468																																					p.K385R													.	PIWIL3	115		0			c.A1154G												154.0	120.0	132.0					22																	25145722		2203	4300	6503	SO:0001583	missense	440822	exon10			AGGCCCTTTTTCC	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1154A>G	22.37:g.25145722T>C	ENSP00000330031:p.Lys385Arg		252	0.003968254	1		128	0.03	4	NM_001008496	0		0		Missense_Mutation	SNP	ENST00000332271.5	37	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	3.944	-0.013729	0.07681	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.10099	2.91;2.91;2.91	2.29	-0.0014	0.14034	Argonaute/Dicer protein, PAZ (4);	0.721096	0.12611	U	0.453910	T	0.04770	0.0129	N	0.20881	0.62	0.24410	N	0.994662	B;B;B	0.21381	0.055;0.034;0.009	B;B;B	0.25291	0.059;0.03;0.024	T	0.42932	-0.9422	10	0.05351	T	0.99	-10.9833	1.8165	0.03102	0.2778:0.1706:0.0:0.5517	.	276;385;385	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	R	385;276;276	ENSP00000330031:K385R;ENSP00000431843:K276R;ENSP00000435718:K276R	ENSP00000330031:K385R	K	-	2	0	PIWIL3	23475722	0.986000	0.35501	0.663000	0.29738	0.233000	0.25261	0.006000	0.13152	-0.056000	0.13221	0.260000	0.18958	AAG			0.468	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320084.2		NM_001008496	
HSCB	150274	broad.mit.edu	37	22	29138096	29138096	+	Missense_Mutation	SNP	A	A	G	rs200681712		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:29138096A>G	ENST00000216027.3	+	1	78	c.13A>G	c.(13-15)Aga>Gga	p.R5G	HSCB_ENST00000398941.2_Missense_Mutation_p.R5G|CHEK2_ENST00000382580.2_5'Flank|CHEK2_ENST00000382565.1_5'Flank|CHEK2_ENST00000382566.1_5'Flank|CHEK2_ENST00000328354.6_5'Flank|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000405598.1_5'Flank|CHEK2_ENST00000348295.3_5'Flank|CHEK2_ENST00000382578.1_5'Flank	NM_172002.3	NP_741999.3	Q8IWL3	HSC20_HUMAN	HscB mitochondrial iron-sulfur cluster co-chaperone	5					iron-sulfur cluster assembly (GO:0016226)|protein folding (GO:0006457)|protein oligomerization (GO:0051259)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|lung(2)|skin(1)	4						GTGGCGGGGGAGAGCCGGGGC	0.612																																					p.R5G													.	HSCB	16		0			c.A13G												6.0	8.0	7.0					22																	29138096		2138	4202	6340	SO:0001583	missense	150274	exon1			CGGGGGAGAGCCG	AY191719	CCDS13845.1	22q12.1	2013-09-12	2013-09-12		ENSG00000100209	ENSG00000100209		"""Heat shock proteins / DNAJ (HSP40)"""	28913	protein-coding gene	gene with protein product	"""DnaJ (Hsp40) homolog, subfamily C, member 20"""	608142	"""HscB iron-sulfur cluster co-chaperone homolog (E. coli)"""			12938016, 16952052	Standard	NM_172002		Approved	HSC20, DNAJC20, Jac1	uc003aea.3	Q8IWL3	OTTHUMG00000151092	ENST00000216027.3:c.13A>G	22.37:g.29138096A>G	ENSP00000216027:p.Arg5Gly		64	0.296875	19		62	0.32	20	NM_172002	8	0.13	1	Q9BWS7	Missense_Mutation	SNP	ENST00000216027.3	37	CCDS13845.1	.	.	.	.	.	.	.	.	.	.	A	12.34	1.909658	0.33721	.	.	ENSG00000100209	ENST00000216027;ENST00000398941	T;T	0.47869	1.45;0.83	5.18	1.55	0.23275	.	0.828516	0.11074	N	0.602625	T	0.27765	0.0683	L	0.27053	0.805	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.24440	-1.0160	10	0.13108	T	0.6	-6.0484	4.1457	0.10215	0.6554:0.0:0.1885:0.1561	.	5	Q8IWL3	HSC20_HUMAN	G	5	ENSP00000216027:R5G;ENSP00000381914:R5G	ENSP00000216027:R5G	R	+	1	2	HSCB	27468096	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	0.119000	0.15626	0.363000	0.24346	0.459000	0.35465	AGA			0.612	HSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000321263.1		NM_172002	
CDC42EP1	11135	broad.mit.edu	37	22	37962631	37962631	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr22:37962631T>G	ENST00000249014.4	+	2	695	c.275T>G	c.(274-276)gTg>gGg	p.V92G		NM_152243.2	NP_689449.1	Q00587	BORG5_HUMAN	CDC42 effector protein (Rho GTPase binding) 1	92					positive regulation of pseudopodium assembly (GO:0031274)|regulation of cell shape (GO:0008360)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					GTGCGGAGGGTGGGGGCGCCC	0.697																																					p.V92G													.	CDC42EP1	53		0			c.T275G												27.0	29.0	28.0					22																	37962631		2201	4293	6494	SO:0001583	missense	11135	exon2			GGAGGGTGGGGGC	M88338	CCDS13949.1	22q13.1	2008-06-11			ENSG00000128283	ENSG00000128283			17014	protein-coding gene	gene with protein product	"""55 kDa bone marrow stromal/endothelial cell protein"", ""serum constituent protein"""	606084				1629197, 10430899	Standard	NM_152243		Approved	MSE55, CEP1, Borg5	uc003asz.4	Q00587	OTTHUMG00000150591	ENST00000249014.4:c.275T>G	22.37:g.37962631T>G	ENSP00000249014:p.Val92Gly		227	0.0528634361	12		183	0.15	27	NM_152243	38	0.05	2	A8K825|Q96GN1	Missense_Mutation	SNP	ENST00000249014.4	37	CCDS13949.1	.	.	.	.	.	.	.	.	.	.	T	8.072	0.770536	0.15983	.	.	ENSG00000128283	ENST00000249014	T	0.31247	1.5	5.22	3.03	0.35002	.	0.247549	0.30036	N	0.010569	T	0.20495	0.0493	L	0.39898	1.24	0.22728	N	0.99881	B	0.12630	0.006	B	0.13407	0.009	T	0.18023	-1.0350	10	0.20046	T	0.44	-20.0019	6.2589	0.20889	0.0:0.1809:0.2291:0.59	.	92	Q00587	BORG5_HUMAN	G	92	ENSP00000249014:V92G	ENSP00000249014:V92G	V	+	2	0	CDC42EP1	36292577	0.001000	0.12720	0.742000	0.31022	0.794000	0.44872	-0.110000	0.10824	0.841000	0.35020	0.460000	0.39030	GTG			0.697	CDC42EP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318993.1		NM_152243	
FBLN2	2199	broad.mit.edu;mdanderson.org	37	3	13612701	13612701	+	Silent	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:13612701G>A	ENST00000295760.7	+	2	915	c.846G>A	c.(844-846)gaG>gaA	p.E282E	FBLN2_ENST00000404922.3_Silent_p.E282E|FBLN2_ENST00000535798.1_Silent_p.E308E|FBLN2_ENST00000492059.1_Silent_p.E282E	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	282	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			aggaagaagaggaggaggagg	0.657																																					p.E282E													.	FBLN2	137		0			c.G846A												9.0	12.0	11.0					3																	13612701		2129	4247	6376	SO:0001819	synonymous_variant	2199	exon2			AGAAGAGGAGGAG	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.846G>A	3.37:g.13612701G>A			71	0.014084507	1		70	0.07	5	NM_001998	12	0.00	0	B7Z9C5|Q8IUI0|Q8IUI1	Silent	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																					0.657	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000340083.3		NM_001004019	
GPD1L	23171	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	3	32201135	32201135	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:32201135C>T	ENST00000282541.5	+	7	1129	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C		NM_015141.3	NP_055956.1	Q8N335	GPD1L_HUMAN	glycerol-3-phosphate dehydrogenase 1-like	310					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophospholipid biosynthetic process (GO:0046474)|NAD metabolic process (GO:0019674)|NADH metabolic process (GO:0006734)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase C signaling (GO:0090038)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate (GO:0002027)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|ventricular cardiac muscle cell action potential (GO:0086005)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|plasma membrane (GO:0005886)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|ion channel binding (GO:0044325)|NAD binding (GO:0051287)|sodium channel regulator activity (GO:0017080)			large_intestine(4)|lung(7)|ovary(1)	12						TGAAGTGTACCGCATCCTCAA	0.453																																					p.R310C													.	.			0			c.C928T												63.0	58.0	59.0					3																	32201135		2203	4300	6503	SO:0001583	missense	23171	exon7			GTGTACCGCATCC	D42047	CCDS33729.1	3p22.3	2014-09-17			ENSG00000152642	ENSG00000152642			28956	protein-coding gene	gene with protein product		611778				7788527	Standard	NM_015141		Approved	KIAA0089	uc003cew.3	Q8N335	OTTHUMG00000155846	ENST00000282541.5:c.928C>T	3.37:g.32201135C>T	ENSP00000282541:p.Arg310Cys		382	0	0		160	0.07	11	NM_015141	11	0.09	1	A8K9U3|Q14702|Q9BRM5	Missense_Mutation	SNP	ENST00000282541.5	37	CCDS33729.1	.	.	.	.	.	.	.	.	.	.	c	16.85	3.236058	0.58886	.	.	ENSG00000152642	ENST00000282541	T	0.65364	-0.15	5.54	4.67	0.58626	Dehydrogenase, multihelical (1);6-phosphogluconate dehydrogenase, C-terminal-like (1);Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal (1);	0.384468	0.30930	N	0.008599	T	0.67933	0.2946	M	0.64170	1.965	0.58432	D	0.999998	P	0.44195	0.828	P	0.51170	0.661	T	0.70608	-0.4825	10	0.72032	D	0.01	-25.7577	10.6686	0.45745	0.1318:0.7987:0.0:0.0695	.	310	Q8N335	GPD1L_HUMAN	C	310	ENSP00000282541:R310C	ENSP00000282541:R310C	R	+	1	0	GPD1L	32176139	0.710000	0.27896	1.000000	0.80357	0.312000	0.27988	2.021000	0.41020	1.345000	0.45676	0.550000	0.68814	CGC			0.453	GPD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000341975.2		NM_015141	
ITIH4	3700	mdanderson.org	37	3	52863240	52863240	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:52863240G>A	ENST00000266041.4	-	2	242	c.146C>T	c.(145-147)gCc>gTc	p.A49V	ITIH4_ENST00000485816.1_Missense_Mutation_p.A49V|RP5-966M1.6_ENST00000513520.1_5'Flank|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.A49V|ITIH4_ENST00000346281.5_Missense_Mutation_p.A49V|ITIH4_ENST00000434759.3_Intron	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	49	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GACCGTGTGGGCAAATCGGGA	0.562																																					p.A49V													.	.			0			c.C146T												152.0	133.0	140.0					3																	52863240		2203	4300	6503	SO:0001583	missense	3700	exon2			GTGTGGGCAAATC	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.146C>T	3.37:g.52863240G>A	ENSP00000266041:p.Ala49Val		120	0	0		86	0.06	5	NM_002218	5	0.00	0	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	CCDS2865.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.056864	0.76074	.	.	ENSG00000055955	ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.25	5.25	0.73442	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.087629	0.47093	D	0.000242	T	0.68732	0.3033	M	0.84433	2.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.73304	-0.4025	10	0.56958	D	0.05	-26.97	16.6329	0.85038	0.0:0.0:1.0:0.0	.	49;49;49	E9PGN5;B7ZKJ8;Q14624	.;.;ITIH4_HUMAN	V	49	ENSP00000266041:A49V;ENSP00000340520:A49V;ENSP00000417824:A49V;ENSP00000384425:A49V	ENSP00000266041:A49V	A	-	2	0	ITIH4	52838280	1.000000	0.71417	1.000000	0.80357	0.340000	0.28889	5.662000	0.68032	2.438000	0.82558	0.655000	0.94253	GCC			0.562	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000317715.1		NM_002218	
PQLC2L	152078	mdanderson.org	37	3	157271080	157271080	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr3:157271080G>A	ENST00000449199.2	+	2	175	c.34G>A	c.(34-36)Gca>Aca	p.A12T	C3orf55_ENST00000459838.1_Missense_Mutation_p.A12T|C3orf55_ENST00000426338.2_Missense_Mutation_p.A12T|C3orf55_ENST00000498159.1_Intron|C3orf55_ENST00000468043.1_Missense_Mutation_p.A12T|C3orf55_ENST00000312275.5_Missense_Mutation_p.A12T|C3orf55_ENST00000461040.1_Missense_Mutation_p.A12T	NM_001130002.2	NP_001123474.1	A1A4F0	CC055_HUMAN		12										breast(1)|lung(1)	2			Lung(72;0.0215)|LUSC - Lung squamous cell carcinoma(72;0.037)			AGTCAACACTGCAAACTCAAG	0.398																																					p.A12T													.	.			0			c.G34A												93.0	99.0	97.0					3																	157271080		1968	4137	6105	SO:0001583	missense	152078	exon2			AACACTGCAAACT																												ENST00000449199.2:c.34G>A	3.37:g.157271080G>A	ENSP00000413228:p.Ala12Thr		103	0	0		51	0.06	3	NM_001130002	0		0	C9JP04|C9JXB5|Q8N6Q6	Missense_Mutation	SNP	ENST00000449199.2	37	CCDS46943.1	.	.	.	.	.	.	.	.	.	.	G	4.228	0.041203	0.08196	.	.	ENSG00000174899	ENST00000312275;ENST00000468043;ENST00000459838;ENST00000461040;ENST00000449199;ENST00000426338	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	1.83	-0.13	0.13498	.	.	.	.	.	T	0.25865	0.0630	L	0.44542	1.39	0.09310	N	1	B;B;B	0.27166	0.17;0.092;0.092	B;B;B	0.30316	0.114;0.065;0.105	T	0.29761	-1.0001	9	0.44086	T	0.13	.	2.1966	0.03913	0.1942:0.0:0.4989:0.3069	.	12;12;12	C9JXB5;A1A4F0;A1A4F0-2	.;CC055_HUMAN;.	T	12	ENSP00000312323:A12T;ENSP00000420049:A12T;ENSP00000420317:A12T;ENSP00000417372:A12T;ENSP00000413228:A12T;ENSP00000387918:A12T	ENSP00000312323:A12T	A	+	1	0	C3orf55	158753774	0.000000	0.05858	0.003000	0.11579	0.004000	0.04260	-1.015000	0.03637	-0.050000	0.13356	-0.293000	0.09583	GCA			0.398	C3orf55-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352018.1			
MTTP	4547	broad.mit.edu;ucsc.edu;mdanderson.org	37	4	100529976	100529976	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr4:100529976G>C	ENST00000265517.5	+	12	1814	c.1611G>C	c.(1609-1611)aaG>aaC	p.K537N	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.K564N|MTTP_ENST00000457717.1_Missense_Mutation_p.K537N			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	537	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TTCATGAAAAGACTGTGCGCA	0.388																																					p.K537N													.	MTTP	127		0			c.G1611C												117.0	115.0	116.0					4																	100529976		2203	4300	6503	SO:0001583	missense	4547	exon13			TGAAAAGACTGTG		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.1611G>C	4.37:g.100529976G>C	ENSP00000265517:p.Lys537Asn		122	0	0		46	0.09	4	NM_000253	0		0	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	ENST00000265517.5	37	CCDS3651.1	.	.	.	.	.	.	.	.	.	.	G	10.95	1.496187	0.26861	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517	T;T;T	0.63417	-0.04;-0.02;-0.02	4.91	3.19	0.36642	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (2);	0.000000	0.85682	D	0.000000	T	0.72423	0.3458	M	0.66506	2.035	0.53005	D	0.999967	P;D	0.89917	0.659;1.0	B;D	0.91635	0.259;0.999	T	0.67632	-0.5621	10	0.22706	T	0.39	-36.628	9.6596	0.39947	0.2259:0.0:0.7741:0.0	.	564;537	E9PBP6;P55157	.;MTP_HUMAN	N	564;537;537	ENSP00000427679:K564N;ENSP00000400821:K537N;ENSP00000265517:K537N	ENSP00000265517:K537N	K	+	3	2	MTTP	100748999	1.000000	0.71417	1.000000	0.80357	0.412000	0.31113	1.601000	0.36773	0.594000	0.29761	0.655000	0.94253	AAG			0.388	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253662.3			
METTL14	57721	mdanderson.org	37	4	119621782	119621782	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr4:119621782G>T	ENST00000388822.5	+	8	890	c.723G>T	c.(721-723)ttG>ttT	p.L241F	METTL14_ENST00000506780.1_Missense_Mutation_p.L203F			Q9HCE5	MET14_HUMAN	methyltransferase like 14	241					mRNA destabilization (GO:0061157)|mRNA methylation (GO:0080009)|stem cell maintenance (GO:0019827)	MIS complex (GO:0036396)|nucleus (GO:0005634)	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity (GO:0016422)|RNA binding (GO:0003723)			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGGAGGGGTTGGACCTTGGAA	0.343																																					p.L241F													.	.			0			c.G723T												135.0	131.0	132.0					4																	119621782		2203	4300	6503	SO:0001583	missense	57721	exon8			GGGGTTGGACCTT	AB046847	CCDS34053.1	4q26	2009-02-24			ENSG00000145388	ENSG00000145388			29330	protein-coding gene	gene with protein product						10997877	Standard	NM_020961		Approved	KIAA1627	uc003icf.3	Q9HCE5	OTTHUMG00000161167	ENST00000388822.5:c.723G>T	4.37:g.119621782G>T	ENSP00000373474:p.Leu241Phe		144	0	0		50	0.06	3	NM_020961	15	0.00	0	A6NIG1|Q969V2	Missense_Mutation	SNP	ENST00000388822.5	37	CCDS34053.1	.	.	.	.	.	.	.	.	.	.	g	16.82	3.227599	0.58668	.	.	ENSG00000145388	ENST00000388822;ENST00000506780	T;T	0.42900	0.96;0.96	4.37	4.37	0.52481	.	0.000000	0.64402	D	0.000001	T	0.67730	0.2924	M	0.88450	2.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.74281	-0.3716	10	0.87932	D	0	-7.7339	11.8646	0.52486	0.0861:0.0:0.9139:0.0	.	203;241	D6RBL4;Q9HCE5	.;MTL14_HUMAN	F	241;203	ENSP00000373474:L241F;ENSP00000424111:L203F	ENSP00000373474:L241F	L	+	3	2	METTL14	119841230	1.000000	0.71417	0.991000	0.47740	0.640000	0.38277	3.856000	0.55964	2.165000	0.68154	0.467000	0.42956	TTG			0.343	METTL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000364034.3		NM_020961	
KLHL2	11275	bcgsc.ca;mdanderson.org	37	4	166231709	166231709	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr4:166231709G>T	ENST00000226725.6	+	10	1303	c.1044G>T	c.(1042-1044)atG>atT	p.M348I	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Missense_Mutation_p.M251I|KLHL2_ENST00000506761.1_Missense_Mutation_p.M182I|KLHL2_ENST00000514860.1_Missense_Mutation_p.M352I|KLHL2_ENST00000538127.1_Missense_Mutation_p.M260I	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	348					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		TTGCAGGCATGGTCTACATGG	0.428																																					p.M352I													.	KLHL2	42		0			c.G1056T												243.0	246.0	245.0					4																	166231709		2203	4300	6503	SO:0001583	missense	11275	exon10			AGGCATGGTCTAC	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1044G>T	4.37:g.166231709G>T	ENSP00000226725:p.Met348Ile		147	0	0		83	0.06	5	NM_001161521	8	0.00	0	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	18.71	3.681335	0.68042	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.79033	-1.23;-1.23;-1.23;-1.23;-1.23	5.56	5.56	0.83823	Galactose oxidase, beta-propeller (1);	0.043902	0.85682	D	0.000000	T	0.71039	0.3293	L	0.31420	0.93	0.80722	D	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12837	0.008;0.008;0.008	T	0.64879	-0.6303	10	0.46703	T	0.11	.	19.5427	0.95280	0.0:0.0:1.0:0.0	.	352;348;348	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	I	348;352;260;251;182	ENSP00000226725:M348I;ENSP00000424198:M352I;ENSP00000437526:M260I;ENSP00000408974:M251I;ENSP00000424108:M182I	ENSP00000226725:M348I	M	+	3	0	KLHL2	166451159	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	6.618000	0.74214	2.604000	0.88044	0.650000	0.86243	ATG			0.428	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000364439.1			
RHOBTB3	22836	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	95067647	95067647	+	Silent	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr5:95067647G>A	ENST00000379982.3	+	2	595	c.87G>A	c.(85-87)ctG>ctA	p.L29L	CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000515852.1_3'UTR|CTD-2154I11.2_ENST00000513235.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.L29L	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	29	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		GCACTTACCTGGGGAGAAGCC	0.652																																					p.L29L													RHOBTB3,caecum,carcinoma,0,1	RHOBTB3	0	1	0			c.G87A												42.0	42.0	42.0					5																	95067647		2203	4300	6503	SO:0001819	synonymous_variant	22836	exon2			TTACCTGGGGAGA	AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.87G>A	5.37:g.95067647G>A			292	0	0		315	0.08	25	NM_014899	26	0.15	4	A0PJA4|A8K1W9|Q8IW06	Silent	SNP	ENST00000379982.3	37	CCDS4077.1																																																																																					0.652	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000241658.1		NM_014899	
ZRSR1	7310	broad.mit.edu	37	5	112228537	112228537	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr5:112228537G>T	ENST00000391338.1	+	1	1225	c.1201G>T	c.(1201-1203)Gag>Tag	p.E401*	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.8_ENST00000512790.1_3'UTR|CTC-487M23.8_ENST00000506997.1_3'UTR|CTC-487M23.5_ENST00000602872.1_RNA|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	401						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						TGGGGAATCCGAGAGAAAAAA	0.512																																					.													ZRSR1_ENST00000391338,NS,carcinoma,-2,2	SRP19	12	2	0			.																																									SO:0001587	stop_gained	7310	.			GAATCCGAGAGAA	D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.1201G>T	5.37:g.112228537G>T	ENSP00000375133:p.Glu401*		254	0	0		148	0.02	3	.	8	0.00	0	B2R901|Q13570|Q2M3R8	Nonsense_Mutation	SNP	ENST00000391338.1	37		.	.	.	.	.	.	.	.	.	.	G	10.88	1.476339	0.26511	.	.	ENSG00000212643	ENST00000391338	.	.	.	1.48	0.548	0.17208	.	0.424555	0.29964	N	0.010754	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	3.9793	0.09487	0.4297:0.0:0.5703:0.0	.	.	.	.	X	401	.	ENSP00000375133:E401X	E	+	1	0	ZRSR1	112256436	0.988000	0.35896	0.000000	0.03702	0.029000	0.11900	2.062000	0.41413	0.168000	0.19655	0.467000	0.42956	GAG			0.512	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000371801.1		NM_005083	
ARSI	340075	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	5	149677844	149677844	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr5:149677844G>A	ENST00000328668.7	-	2	1222	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	215					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCTGGCGCGCTGGGCATAA	0.627																																					p.R215C													ARSI,NS,carcinoma,+2,2	ARSI	2	2	0			c.C643T												49.0	49.0	49.0					5																	149677844		2202	4300	6502	SO:0001583	missense	340075	exon2			TGGCGCGCTGGGC	AY875937	CCDS34275.1	5q32	2014-03-03	2006-03-07			ENSG00000183876		"""Arylsulfatase family"""	32521	protein-coding gene	gene with protein product		610009	"""arylsulfatase I"""			16174644, 24482476	Standard	NM_001012301		Approved	FLJ16069, SPG66	uc003lrv.2	Q5FYB1		ENST00000328668.7:c.643C>T	5.37:g.149677844G>A	ENSP00000333395:p.Arg215Cys		94	0	0		62	0.08	5	NM_001012301	9	0.22	2	A1L3B0|B3KV22|B7XD03	Missense_Mutation	SNP	ENST00000328668.7	37	CCDS34275.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154008	0.57259	.	.	ENSG00000183876	ENST00000328668;ENST00000515301;ENST00000509146	D;D;D	0.98717	-5.09;-5.09;-5.09	4.32	4.32	0.51571	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99393	0.9786	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.98378	1.0557	10	0.87932	D	0	.	17.3545	0.87332	0.0:0.0:1.0:0.0	.	215	Q5FYB1	ARSI_HUMAN	C	215;72;72	ENSP00000333395:R215C;ENSP00000426879:R72C;ENSP00000420955:R72C	ENSP00000333395:R215C	R	-	1	0	ARSI	149658037	1.000000	0.71417	0.998000	0.56505	0.762000	0.43233	5.625000	0.67770	2.401000	0.81631	0.561000	0.74099	CGC			0.627	ARSI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000373681.1		NM_001012301	
DNAH8	1769	mdanderson.org	37	6	38899770	38899770	+	Splice_Site	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr6:38899770G>T	ENST00000359357.3	+	74	11060		c.e74+1		RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Splice_Site|DNAH8_ENST00000441566.1_Splice_Site|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAGAAACAGGTAATCTCTCT	0.308																																					.													.	.			0			c.11457+1G>T												62.0	62.0	62.0					6																	38899770		2203	4299	6502	SO:0001630	splice_region_variant	1769	exon76			AAACAGGTAATCT	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10806+1G>T	6.37:g.38899770G>T			113	0	0		54	0.06	3	NM_001206927	0		0	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Splice_Site	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	G	21.0	4.074579	0.76415	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3431	0.98773	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DNAH8	39007748	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	9.420000	0.97426	2.880000	0.98712	0.650000	0.86243	.			0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000043574.1		NM_001206927	Intron
SENP6	26054	mdanderson.org	37	6	76343405	76343405	+	Missense_Mutation	SNP	A	A	G	rs200483413		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr6:76343405A>G	ENST00000447266.2	+	4	794	c.316A>G	c.(316-318)Att>Gtt	p.I106V	SENP6_ENST00000370014.3_Missense_Mutation_p.I106V|SENP6_ENST00000370010.2_Missense_Mutation_p.I106V|SENP6_ENST00000327284.8_Missense_Mutation_p.I106V	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	106					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGGCAACCCAATTGGACTTAA	0.353																																					p.I106V													.	.			0			c.A316G												77.0	73.0	74.0					6																	76343405		1834	4079	5913	SO:0001583	missense	26054	exon4			AACCCAATTGGAC		CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.316A>G	6.37:g.76343405A>G	ENSP00000402527:p.Ile106Val		105	0	0		50	0.06	3	NM_001100409	52	0.00	0	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	ENST00000447266.2	37	CCDS47454.1	.	.	.	.	.	.	.	.	.	.	A	10.04	1.240365	0.22711	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266	T;T;T;T	0.46451	0.87;0.87;0.87;0.87	5.19	2.48	0.30137	.	0.504726	0.21936	N	0.066949	T	0.20210	0.0486	M	0.66939	2.045	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.10450	0.005;0.002;0.005	T	0.04811	-1.0925	10	0.42905	T	0.14	-1.7971	5.9234	0.19094	0.6992:0.1383:0.1625:0.0	.	106;106;106	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	V	106	ENSP00000359027:I106V;ENSP00000359031:I106V;ENSP00000321820:I106V;ENSP00000402527:I106V	ENSP00000321820:I106V	I	+	1	0	SENP6	76400125	0.996000	0.38824	0.991000	0.47740	0.984000	0.73092	0.972000	0.29409	0.205000	0.20568	0.482000	0.46254	ATT			0.353	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041272.2		NM_015571	
SAMD5	389432	broad.mit.edu	37	6	147830216	147830216	+	Missense_Mutation	SNP	A	A	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr6:147830216A>C	ENST00000367474.1	+	1	154	c.152A>C	c.(151-153)cAc>cCc	p.H51P		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	51	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.												Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		GCGCCCGCGCACCGCCGCCGT	0.716																																					p.H51P													.	SAMD5	4		0			c.A152C																																									SO:0001583	missense	389432	exon1			CCGCGCACCGCCG	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.152A>C	6.37:g.147830216A>C	ENSP00000356444:p.His51Pro		73	0.2602739726	19		60	0.33	20	NM_001030060	0		0		Missense_Mutation	SNP	ENST00000367474.1	37	CCDS34548.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645029	0.87859	.	.	ENSG00000203727	ENST00000367474	T	0.62498	0.02	4.1	4.1	0.47936	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.72526	0.3471	M	0.82056	2.57	0.50171	D	0.999857	D	0.76494	0.999	D	0.87578	0.998	T	0.77574	-0.2537	10	0.87932	D	0	-8.6847	11.3199	0.49415	1.0:0.0:0.0:0.0	.	51	Q5TGI4	SAMD5_HUMAN	P	51	ENSP00000356444:H51P	ENSP00000356444:H51P	H	+	2	0	SAMD5	147871909	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.527000	0.81931	1.478000	0.48253	0.377000	0.23210	CAC			0.716	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042610.1		NM_001030060	
WIPI2	26100	mdanderson.org	37	7	5266967	5266967	+	Silent	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr7:5266967G>T	ENST00000288828.4	+	10	1237	c.1005G>T	c.(1003-1005)tcG>tcT	p.S335S	WIPI2_ENST00000484262.1_Silent_p.S276S|WIPI2_ENST00000382384.2_Silent_p.S317S|WIPI2_ENST00000404704.3_Silent_p.S335S|WIPI2_ENST00000401525.3_Silent_p.S317S	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	335					autophagic vacuole assembly (GO:0000045)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|pre-autophagosomal structure (GO:0000407)|pre-autophagosomal structure membrane (GO:0034045)|protein complex (GO:0043234)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		ACATCTGCTCGCTAGCCACGT	0.647																																					p.S335S													.	.			0			c.G1005T												55.0	50.0	52.0					7																	5266967		2203	4300	6503	SO:0001819	synonymous_variant	26100	exon10			CTGCTCGCTAGCC		CCDS5339.1, CCDS34593.1, CCDS47531.1, CCDS47532.1, CCDS47533.1	7p22.1	2014-02-12			ENSG00000157954	ENSG00000157954		"""WD repeat domain containing"""	32225	protein-coding gene	gene with protein product		609225				15602573	Standard	NM_001278299		Approved	Atg21, CGI-50, FLJ12979, FLJ14217, FLJ42984, DKFZP434J154, DKFZp686P02188, ATG18B	uc003snv.3	Q9Y4P8	OTTHUMG00000121179	ENST00000288828.4:c.1005G>T	7.37:g.5266967G>T			56	0	0		59	0.05	3	NM_001033518	301	0.00	1	B3KNC2|Q5MNZ8|Q6FI96|Q75L50|Q96IE4|Q9Y364	Silent	SNP	ENST00000288828.4	37	CCDS5339.1																																																																																					0.647	WIPI2-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000241669.2		NM_015610	
GTF2IRD2P1	401375	broad.mit.edu	37	7	72669801	72669802	+	RNA	INS	-	-	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr7:72669801_72669802insA	ENST00000425256.1	-	0	567									GTF2I repeat domain containing 2 pseudogene 1																		GTGGAATCTTGAAAAAAAAATG	0.391																																					.													.	.			0			.																																											0	.			AATCTTGAAAAAA	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72669810_72669810dupA			738	0	0		478	0.00	0	.	0		0		RNA	INS	ENST00000425256.1	37																																																																																						0.391	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000345921.1		NR_002164	
CROT	54677	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	7	87004971	87004971	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr7:87004971A>G	ENST00000331536.3	+	8	865	c.680A>G	c.(679-681)aAg>aGg	p.K227R	CROT_ENST00000442291.1_Missense_Mutation_p.K227R|CROT_ENST00000419147.2_Missense_Mutation_p.K255R	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	227					carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	ATCCACAAGAAGTGCCATAGT	0.393																																					p.K255R													.	.			0			c.A764G												126.0	117.0	120.0					7																	87004971		2203	4300	6503	SO:0001583	missense	54677	exon9			ACAAGAAGTGCCA		CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.680A>G	7.37:g.87004971A>G	ENSP00000331981:p.Lys227Arg		190	0	0		86	0.06	5	NM_001143935	6	0.00	0	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	A	6.578	0.474917	0.12521	.	.	ENSG00000005469	ENST00000419147;ENST00000331536;ENST00000442291	D;D;D	0.89123	-2.47;-2.47;-2.47	6.02	2.14	0.27477	.	0.369866	0.36482	N	0.002570	T	0.80834	0.4699	L	0.46885	1.475	0.29535	N	0.852511	B;B	0.12013	0.005;0.0	B;B	0.14023	0.01;0.002	T	0.66031	-0.6024	10	0.22109	T	0.4	-14.5037	4.2308	0.10602	0.5352:0.1707:0.2941:0.0	.	255;227	E7EQF2;Q9UKG9	.;OCTC_HUMAN	R	255;227;227	ENSP00000413575:K255R;ENSP00000331981:K227R;ENSP00000411983:K227R	ENSP00000331981:K227R	K	+	2	0	CROT	86842907	0.998000	0.40836	0.990000	0.47175	0.599000	0.36880	1.353000	0.34045	0.512000	0.28257	0.533000	0.62120	AAG			0.393	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253485.1		NM_021151	
OR9A1P	26495	bcgsc.ca	37	7	141587600	141587600	+	RNA	SNP	A	A	G			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_1	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr7:141587600A>G	ENST00000482201.1	+	0	279							Q8NGU1	OR9A1_HUMAN	olfactory receptor, family 9, subfamily A, member 1 pseudogene							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										ATTGTCTCCTACACCTACATC	0.448																																					.													.	.			0			.																																											26495	.			TCTCCTACACCTA	X64982		7q34	2013-09-24			ENSG00000237621	ENSG00000237621		"""GPCR / Class A : Olfactory receptors"""	8486	pseudogene	pseudogene				OR9A1		1370859	Standard	NG_002195		Approved	HTPCRX06, HSHTPCRX06		Q8NGU1	OTTHUMG00000158540		7.37:g.141587600A>G			42	0	0		32	0.13	4	.	0		0		RNA	SNP	ENST00000482201.1	37																																																																																						0.448	OR9A1P-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000351296.1			
CLU	1191	mdanderson.org	37	8	27461858	27461858	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr8:27461858C>A	ENST00000316403.10	-	6	1289	c.884G>T	c.(883-885)tGc>tTc	p.C295F	CLU_ENST00000546343.1_Missense_Mutation_p.C306F|CLU_ENST00000560366.1_Missense_Mutation_p.C347F|CLU_ENST00000523500.1_Missense_Mutation_p.C295F|CLU_ENST00000405140.3_Missense_Mutation_p.C295F			P10909	CLUS_HUMAN	clusterin	295					blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CATCCGCAGGCAGCCCGTGGA	0.612																																					p.C295F													.	.			0			c.G884T												106.0	88.0	94.0					8																	27461858		2203	4300	6503	SO:0001583	missense	1191	exon6			CGCAGGCAGCCCG	M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.884G>T	8.37:g.27461858C>A	ENSP00000315130:p.Cys295Phe		66	0	0		48	0.06	3	NM_001831	109	0.01	1	B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999969	0.93227	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000380446;ENST00000520012;ENST00000523589	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.77	5.77	0.91146	Clusterin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.78861	0.4350	M	0.83603	2.65	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.999;1.0	T	0.81269	-0.1009	10	0.87932	D	0	-40.905	17.4775	0.87664	0.0:1.0:0.0:0.0	.	160;347;306;295	E7ETA7;P10909-2;P10909-5;P10909	.;.;.;CLUS_HUMAN	F	347;306;295;295;120;160;261	ENSP00000446413:C306F;ENSP00000385419:C295F;ENSP00000429620:C295F;ENSP00000431070:C261F	ENSP00000315130:C347F	C	-	2	0	CLU	27517775	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.719000	0.74718	2.723000	0.93209	0.655000	0.94253	TGC			0.612	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000219953.3		NM_001831	
RP11-764K9.1	0	broad.mit.edu	37	9	68405348	68405349	+	lincRNA	INS	-	-	T	rs371701538|rs149727388|rs140647636		TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr9:68405348_68405349insT	ENST00000417843.2	-	0	224																											aaaattctcaataaatgaggta	0.312																																					.													.	.			0			.																																											0	.			TTCTCAATAAATG																													9.37:g.68405349_68405349dupT			6	0	0		7	0.43	3	.	0		0		RNA	INS	ENST00000417843.2	37																																																																																						0.312	RP11-764K9.1-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000129817.2			
SLC44A1	23446	mdanderson.org	37	9	108072110	108072110	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr9:108072110G>T	ENST00000374720.3	+	3	479	c.232G>T	c.(232-234)Gca>Tca	p.A78S	SLC44A1_ENST00000607692.1_3'UTR|SLC44A1_ENST00000374724.1_Missense_Mutation_p.A78S|SLC44A1_ENST00000374723.1_Missense_Mutation_p.A78S	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	78					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	AAAGTTGGAAGCAATACCAAA	0.438																																					p.A78S													.	.			0			c.G232T												110.0	98.0	102.0					9																	108072110		2203	4300	6503	SO:0001583	missense	23446	exon3			TTGGAAGCAATAC	AJ420812	CCDS6763.1, CCDS75868.1	9q31.2	2014-01-28	2013-07-17	2005-09-06	ENSG00000070214	ENSG00000070214		"""CD molecules"", ""Solute carriers"""	18798	protein-coding gene	gene with protein product		606105	"""CDW92 antigen"""	CDW92		11698453, 10677542	Standard	NM_080546		Approved	CDw92, CTL1, CHTL1, CD92	uc004bcn.3	Q8WWI5	OTTHUMG00000020421	ENST00000374720.3:c.232G>T	9.37:g.108072110G>T	ENSP00000363852:p.Ala78Ser		108	0	0		46	0.07	3	NM_080546	63	0.00	0	A6NLZ9|Q5VUB3|Q8WVB0|Q96KU3|Q9NY69	Missense_Mutation	SNP	ENST00000374720.3	37	CCDS6763.1	.	.	.	.	.	.	.	.	.	.	G	12.25	1.881584	0.33255	.	.	ENSG00000070214	ENST00000374723;ENST00000374720;ENST00000374724	T;T;T	0.76578	-1.03;-1.03;-1.03	5.89	3.71	0.42584	.	0.412465	0.27759	N	0.017966	T	0.53883	0.1824	N	0.03608	-0.345	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.11329	0.006;0.001	T	0.48317	-0.9046	10	0.19147	T	0.46	-8.8494	12.0235	0.53356	0.0718:0.0:0.8041:0.124	.	78;78	Q8WWI5-3;Q8WWI5	.;CTL1_HUMAN	S	78	ENSP00000363855:A78S;ENSP00000363852:A78S;ENSP00000363856:A78S	ENSP00000363852:A78S	A	+	1	0	SLC44A1	107111931	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.822000	0.69265	1.471000	0.48121	0.563000	0.77884	GCA			0.438	SLC44A1-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000053500.1		NM_080546	
AKNA	80709	mdanderson.org	37	9	117124711	117124711	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chr9:117124711T>C	ENST00000307564.4	-	8	2052	c.1891A>G	c.(1891-1893)Acg>Gcg	p.T631A	AKNA_ENST00000312033.3_Missense_Mutation_p.T631A|AKNA_ENST00000223791.3_Missense_Mutation_p.T91A|AKNA_ENST00000374088.3_Missense_Mutation_p.T631A|AKNA_ENST00000374075.5_Missense_Mutation_p.T550A	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	631					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTTCCAGGCGTCCCCTTGGAG	0.657																																					p.T631A													.	.			0			c.A1891G												32.0	35.0	34.0					9																	117124711		2203	4300	6503	SO:0001583	missense	80709	exon8			CAGGCGTCCCCTT	AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.1891A>G	9.37:g.117124711T>C	ENSP00000303769:p.Thr631Ala		78	0	0		56	0.05	3	NM_030767	62	0.00	0	Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	ENST00000307564.4	37	CCDS6805.1	.	.	.	.	.	.	.	.	.	.	t	8.827	0.938933	0.18281	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000223791;ENST00000374075;ENST00000312033	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	4.7	-2.46	0.06461	.	0.905016	0.09367	N	0.811942	T	0.22044	0.0531	L	0.40543	1.245	0.09310	N	1	B;B	0.22683	0.021;0.073	B;B	0.24701	0.012;0.055	T	0.34204	-0.9838	10	0.46703	T	0.11	1.029	5.8809	0.18854	0.0:0.1842:0.4886:0.3272	.	631;550	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	A	631;472;631;91;550;631	ENSP00000303769:T631A;ENSP00000363201:T631A;ENSP00000223791:T91A;ENSP00000363188:T550A;ENSP00000309222:T631A	ENSP00000223791:T91A	T	-	1	0	AKNA	116164532	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.022000	0.12480	-0.233000	0.09797	-0.513000	0.04457	ACG			0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000053767.2		NM_030767	
MT-CO1	4512	broad.mit.edu	37	M	6164	6164	+	Silent	SNP	C	C	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrM:6164C>T	ENST00000361624.2	+	1	261	c.261C>T	c.(259-261)atC>atT	p.I87I	MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-CO2_ENST00000361739.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	87					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|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 IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CCCCTAATAATCGGTGCCCCC	0.468																																					p.I87I													.	.			0			c.C261T																																									SO:0001819	synonymous_variant	4512	exon1			AATAATCGGTGCC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.261C>T	M.37:g.6164C>T			11	0	0		29	0.21	6	ENST00000361624	0		0	Q34770	Missense_Mutation	SNP	ENST00000361624.2	37																																																																																						0.468	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024028	
CTPS2	56474	broad.mit.edu	37	X	16685816	16685816	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrX:16685816T>C	ENST00000443824.1	-	12	1964	c.1221A>G	c.(1219-1221)atA>atG	p.I407M	CTPS2_ENST00000359276.4_Missense_Mutation_p.I407M|CTPS2_ENST00000380241.3_Missense_Mutation_p.I407M	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	407	Glutamine amidotransferase type-1. {ECO:0000255|PROSITE-ProRule:PRU00605}.				'de novo' CTP biosynthetic process (GO:0044210)|glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP synthase activity (GO:0003883)			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TTGCAAACTCTATCACTGCTA	0.318																																					p.I407M													.	CTPS2	49		0			c.A1221G												100.0	92.0	95.0					X																	16685816		2203	4300	6503	SO:0001583	missense	56474	exon12			AAACTCTATCACT	AF086422	CCDS14175.1	Xp22	2012-05-02	2012-05-02		ENSG00000047230	ENSG00000047230	6.3.4.2		2520	protein-coding gene	gene with protein product		300380	"""CTP synthase II"""			10899599	Standard	NM_001144002		Approved		uc004cxm.3	Q9NRF8	OTTHUMG00000021193	ENST00000443824.1:c.1221A>G	X.37:g.16685816T>C	ENSP00000401264:p.Ile407Met		225	0	0		134	0.03	4	NM_001144002	6	0.00	0	B3KWM2|Q9BRI0|Q9H809|Q9H8K9	Missense_Mutation	SNP	ENST00000443824.1	37	CCDS14175.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.37|17.37	3.372497|3.372497	0.61624|0.61624	.|.	.|.	ENSG00000047230|ENSG00000047230	ENST00000443824;ENST00000380241;ENST00000359276;ENST00000380207|ENST00000455276	D;D;D|.	0.90504|.	-2.68;-2.68;-2.68|.	5.47|5.47	-0.968|-0.968	0.10313|0.10313	Glutamine amidotransferase type 1 (2);|.	0.074507|.	0.56097|.	D|.	0.000039|.	T|.	0.74558|.	0.3732|.	M|M	0.92317|0.92317	3.295|3.295	0.44711|0.44711	D|D	0.997706|0.997706	P|.	0.37688|.	0.605|.	P|.	0.61800|.	0.894|.	T|.	0.71777|.	-0.4490|.	10|.	0.66056|.	D|.	0.02|.	-19.9475|-19.9475	4.6138|4.6138	0.12415|0.12415	0.6586:0.1433:0.0:0.1981|0.6586:0.1433:0.0:0.1981	.|.	407|.	Q9NRF8|.	PYRG2_HUMAN|.	M|W	407;407;407;73|29	ENSP00000401264:I407M;ENSP00000369590:I407M;ENSP00000352222:I407M|.	ENSP00000352222:I407M|.	I|X	-|-	3|2	3|0	CTPS2|CTPS2	16595737|16595737	0.338000|0.338000	0.24775|0.24775	0.997000|0.997000	0.53966|0.53966	0.920000|0.920000	0.55202|0.55202	-0.918000|-0.918000	0.04021|0.04021	-0.197000|-0.197000	0.10350|0.10350	-0.367000|-0.367000	0.07326|0.07326	ATA|TAG			0.318	CTPS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055906.1		NM_019857	
JADE3	9767	broad.mit.edu;bcgsc.ca	37	X	46857586	46857586	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrX:46857586G>T	ENST00000218343.4	+	4	489	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PHF16_ENST00000397189.1_Missense_Mutation_p.S64I	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						AATCCTGATAGCTATTACCTC	0.458																																					p.S64I													.	PHF16	72		0			c.G191T												166.0	138.0	147.0					X																	46857586		2203	4300	6503	SO:0001583	missense	0	exon4			CTGATAGCTATTA																												ENST00000218343.4:c.191G>T	X.37:g.46857586G>T	ENSP00000218343:p.Ser64Ile		87	0	0		55	0.09	5	NM_001077445	1	0.00	0		Missense_Mutation	SNP	ENST00000218343.4	37	CCDS14271.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.704021	0.48412	.	.	ENSG00000102221	ENST00000424392;ENST00000397189;ENST00000218343;ENST00000455411	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.21	-0.462	0.12168	Enhancer of polycomb-like, N-terminal (1);	0.425981	0.29335	N	0.012454	T	0.23846	0.0577	N	0.22421	0.69	0.30591	N	0.761569	B	0.14012	0.009	B	0.16722	0.016	T	0.09037	-1.0693	10	0.87932	D	0	.	5.2702	0.15620	0.6081:0.1668:0.2251:0.0	.	64	Q92613	JADE3_HUMAN	I	64	ENSP00000391009:S64I;ENSP00000380373:S64I;ENSP00000218343:S64I;ENSP00000400584:S64I	ENSP00000218343:S64I	S	+	2	0	PHF16	46742530	1.000000	0.71417	0.965000	0.40720	0.991000	0.79684	3.479000	0.53165	-0.084000	0.12595	0.513000	0.50165	AGC			0.458	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056376.1			
RBM10	8241	hgsc.bcm.edu	37	X	47030582	47030582	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AAH0-01A-11D-A42Y-10	TCGA-2G-AAH0-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	.	WXS	none			Illumina HiSeq	68054b73-f4e7-4235-bff9-06ddf450b59c	861dd19e-9942-47a4-b167-198541df4754	g.chrX:47030582G>T	ENST00000377604.3	+	4	1099	c.357G>T	c.(355-357)gaG>gaT	p.E119D	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						aggaggaggaggatgaggagg	0.662																																					p.E184D	Melanoma(171;120 2705 19495 39241)												.	.			0			c.G552T												20.0	19.0	19.0					X																	47030582		2202	4294	6496	SO:0001583	missense	8241	exon4			GGAGGAGGATGAG	U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.357G>T	X.37:g.47030582G>T	ENSP00000366829:p.Glu119Asp		70	0	0		60	0.07	4	NM_001204468	3	0.00	0	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	ENST00000377604.3	37	CCDS14274.1	.	.	.	.	.	.	.	.	.	.	G	7.514	0.655267	0.14580	.	.	ENSG00000182872	ENST00000377604	T	0.11169	2.8	3.1	1.15	0.20763	Nucleotide-binding, alpha-beta plait (1);	0.859005	0.09469	N	0.797951	T	0.04815	0.0130	N	0.08118	0	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.38628	-0.9652	10	0.11182	T	0.66	-1.7872	6.9396	0.24486	0.0:0.0:0.4873:0.5127	.	184;119;119	Q7Z3D7;P98175-2;P98175	.;.;RBM10_HUMAN	D	119	ENSP00000366829:E119D	ENSP00000366829:E119D	E	+	3	2	RBM10	46915526	1.000000	0.71417	0.776000	0.31678	0.914000	0.54420	0.961000	0.29267	0.165000	0.19558	0.502000	0.49764	GAG			0.662	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000056381.1		NM_005676	
