#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_Mutation_Status	i_NTotCov_SOL	i_NVaf_SOL	i_NVarCov_SOL	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
MTHFR	4524	mdanderson.org	37	1	11854012	11854012	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:11854012G>T	ENST00000376592.1	-	8	1610	c.1482C>A	c.(1480-1482)tcC>tcA	p.S494S	MTHFR_ENST00000376590.3_Silent_p.S494S|MTHFR_ENST00000376585.1_Silent_p.S535S|MTHFR_ENST00000376583.3_Silent_p.S535S			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	494					blood circulation (GO:0008015)|cellular amino acid metabolic process (GO:0006520)|folic acid metabolic process (GO:0046655)|homocysteine metabolic process (GO:0050667)|methionine biosynthetic process (GO:0009086)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to vitamin B2 (GO:0033274)|S-adenosylmethionine metabolic process (GO:0046500)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|neuron projection (GO:0043005)	flavin adenine dinucleotide binding (GO:0050660)|methylenetetrahydrofolate reductase (NAD(P)H) activity (GO:0004489)|modified amino acid binding (GO:0072341)|NADP binding (GO:0050661)			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Fluorouracil(DB00544)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Riboflavin(DB00140)|Tetrahydrofolic acid(DB00116)	CGATGGGGTCGGAGGACGGCT	0.667																																					p.S494S													.	.			0			c.C1482A												72.0	78.0	76.0					1																	11854012		2203	4300	6503	SO:0001819	synonymous_variant	4524	exon9			GGGGTCGGAGGAC	BC053509	CCDS137.1	1p36.3	2014-09-17	2010-05-04		ENSG00000177000	ENSG00000177000	1.5.1.20		7436	protein-coding gene	gene with protein product		607093	"""5,10-methylenetetrahydrofolate reductase (NADPH)"""			7920641	Standard	NM_005957		Approved		uc001atc.2	P42898	OTTHUMG00000002277	ENST00000376592.1:c.1482C>A	1.37:g.11854012G>T			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	34	0.09	3	NM_005957	21	0.00	0	B2R7A6|Q5SNW6|Q5SNW9|Q7Z6M6|Q8IU73|Q9UQR2	Silent	SNP	ENST00000376592.1	37	CCDS137.1																																																																																					0.667	MTHFR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000006538.1		NM_005957	
TMEM53	79639	broad.mit.edu	37	1	45120704	45120704	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:45120704G>T	ENST00000372237.3	-	3	524	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	TMEM53_ENST00000476724.1_5'UTR|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R91S|TMEM53_ENST00000372242.3_Missense_Mutation_p.R121S|TMEM53_ENST00000372243.3_Intron	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	121						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					AGCACGTAGCGGTACAGCATG	0.587											OREG0013446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.R121S													.	TMEM53	40		0			c.C361A												57.0	58.0	58.0					1																	45120704		2203	4300	6503	SO:0001583	missense	79639	exon3			CGTAGCGGTACAG		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.361C>A	1.37:g.45120704G>T	ENSP00000361311:p.Arg121Ser		Somatic	66	0	0	929	WXS	Illumina HiSeq	Phase_I	70	0.04	3	NM_024587	49	0.00	0	B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	CCDS511.1	.	.	.	.	.	.	.	.	.	.	G	32	5.175596	0.94807	.	.	ENSG00000126106	ENST00000372242;ENST00000372237;ENST00000372235;ENST00000420706	.	.	.	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.76392	0.3981	M	0.62154	1.92	0.80722	D	1	D	0.58970	0.984	D	0.72338	0.977	T	0.70579	-0.4833	9	0.20519	T	0.43	.	19.2506	0.93923	0.0:0.0:1.0:0.0	.	121	Q6P2H8	TMM53_HUMAN	S	121;121;91;90	.	ENSP00000361309:R91S	R	-	1	0	TMEM53	44893291	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.869000	0.99810	2.571000	0.86741	0.563000	0.77884	CGC			0.587	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000021599.1		NM_024587	
KCNN3	3782	hgsc.bcm.edu	37	1	154842235	154842236	+	In_Frame_Ins	INS	-	-	GCTGCTGCTGCTGCT			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:154842235_154842236insGCTGCTGCTGCTGCT	ENST00000271915.4	-	1	520_521	c.205_206insAGCAGCAGCAGCAGC	c.(205-207)cag>cAGCAGCAGCAGCAGCag	p.69_69Q>QQQQQQ	KCNN3_ENST00000358505.2_5'Flank	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	69	Gln-rich.				potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ctgctgctgctgctgctgaagc	0.703																																					p.Q69delinsQQQQQQ													.	KCNN3	141		0			c.206_207insAGCAGCAGCAGCAGC																																									SO:0001652	inframe_insertion	3782	exon1			TGCTGCTGCTGCT	AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.191_205dupAGCAGCAGCAGCAGC	1.37:g.154842235_154842236insGCTGCTGCTGCTGCT	ENSP00000271915:p.GlnGlnGlnGlnGln79dup		Somatic	66	0	0		WXS	Illumina HiSeq	.	70	0.20	14	NM_001204087	15	0.00	0	B1ANX0|O43517|Q86VF9|Q8WXG7	In_Frame_Ins	INS	ENST00000271915.4	37	CCDS30880.1																																																																																					0.703	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000090688.3		NM_002249	
HMCN1	83872	hgsc.bcm.edu	37	1	186120944	186120944	+	Intron	SNP	A	A	C			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:186120944A>C	ENST00000271588.4	+	95	15125				HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1						response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTAAGAAAAATACGTGTTCC	0.294																																					.													.	.			0			.																																									SO:0001627	intron_variant	100302192	.			AGAAAAATACGTG	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14896+69A>C	1.37:g.186120944A>C			Somatic	127	0	0		WXS	Illumina HiSeq	.	106	0.23	24	.	0		0	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	RNA	SNP	ENST00000271588.4	37	CCDS30956.1																																																																																					0.294	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000131848.1		NM_031935	
PM20D1	148811	mdanderson.org	37	1	205814017	205814017	+	Silent	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:205814017C>T	ENST00000367136.4	-	4	542	c.498G>A	c.(496-498)ctG>ctA	p.L166L	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	166					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CCAAGGCCTGCAGTAATGCCT	0.488																																					p.L166L													.	.			0			c.G498A												82.0	78.0	79.0					1																	205814017		2203	4300	6503	SO:0001819	synonymous_variant	148811	exon4			GGCCTGCAGTAAT		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.498G>A	1.37:g.205814017C>T			Somatic	37	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_152491	0		0	Q6P4E3|Q96DM4	Silent	SNP	ENST00000367136.4	37	CCDS1460.1																																																																																					0.488	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000087736.1		NM_152491	
OR13G1	441933	mdanderson.org	37	1	247835618	247835618	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr1:247835618G>T	ENST00000359688.2	-	1	747	c.726C>A	c.(724-726)ctC>ctA	p.L242L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCACCACTGTGAGATGAGATG	0.443																																					p.L242L													OR13G1,NS,malignant_melanoma,0,2	OR13G1	0	2	0			c.C726A												162.0	139.0	147.0					1																	247835618		2203	4300	6503	SO:0001819	synonymous_variant	441933	exon1			CACTGTGAGATGA	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.726C>A	1.37:g.247835618G>T			Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	68	0.06	4	NM_001005487	0		0	B2RN80|Q5T2T2|Q6IF86	Silent	SNP	ENST00000359688.2	37	CCDS31094.1																																																																																					0.443	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000096869.1		NM_001005487	
VCL	7414	broad.mit.edu	37	10	75854211	75854211	+	Missense_Mutation	SNP	G	G	A	rs367568441		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr10:75854211G>A	ENST00000211998.4	+	11	1629	c.1535G>A	c.(1534-1536)cGt>cAt	p.R512H	VCL_ENST00000372755.3_Missense_Mutation_p.R512H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	512	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GTGGATGACCGTGGAGTCGGT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		20512	0.0		0.0	False		,,,				2504	0.001				p.R512H													.	VCL	77		0			c.G1535A												57.0	44.0	48.0					10																	75854211		2203	4300	6503	SO:0001583	missense	7414	exon11			ATGACCGTGGAGT	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1535G>A	10.37:g.75854211G>A	ENSP00000211998:p.Arg512His		Somatic	178	0.0056179775	1		WXS	Illumina HiSeq	Phase_I	154	0.03	4	NM_003373	49	0.00	0	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	14.31	2.496944	0.44352	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.77358	-1.09;-1.09;-1.09	5.79	5.79	0.91817	.	0.114120	0.64402	D	0.000012	T	0.66963	0.2843	L	0.31752	0.955	0.80722	D	1	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.60601	-0.7231	10	0.30854	T	0.27	.	13.3145	0.60399	0.0721:0.0:0.9279:0.0	.	439;512;512	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	512;512;419;439;184	ENSP00000361841:R512H;ENSP00000211998:R512H;ENSP00000415489:R184H	ENSP00000211998:R512H	R	+	2	0	VCL	75524217	1.000000	0.71417	0.994000	0.49952	0.725000	0.41563	5.410000	0.66381	2.752000	0.94435	0.585000	0.79938	CGT			0.502	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_003373, NM_014000	
KIF20B	9585	broad.mit.edu	37	10	91497687	91497687	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr10:91497687G>T	ENST00000371728.3	+	20	3154	c.3089G>T	c.(3088-3090)gGt>gTt	p.G1030V	KIF20B_ENST00000416354.1_Missense_Mutation_p.G1060V|KIF20B_ENST00000394289.2_Missense_Mutation_p.G1030V|KIF20B_ENST00000260753.4_Missense_Mutation_p.G990V|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1030					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GACCTTTTAGGTAATGATTAT	0.343																																					p.G990V													KIF20B,colon,carcinoma,-1,1	KIF20B	191	1	0			c.G2969T												73.0	83.0	80.0					10																	91497687		2203	4294	6497	SO:0001583	missense	9585	exon20			TTTTAGGTAATGA	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3089G>T	10.37:g.91497687G>T	ENSP00000360793:p.Gly1030Val		Somatic	141	0	0		WXS	Illumina HiSeq	Phase_I	150	0.03	5	NM_016195	29	0.00	0	A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Missense_Mutation	SNP	ENST00000371728.3	37		.	.	.	.	.	.	.	.	.	.	G	2.227	-0.377040	0.05000	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	T;T;T;T	0.67698	-0.22;-0.23;-0.28;-0.22	4.86	-5.05	0.02955	.	0.928802	0.09073	N	0.852562	T	0.43853	0.1266	N	0.22421	0.69	0.09310	N	0.999997	B;B	0.11235	0.004;0.004	B;B	0.10450	0.002;0.005	T	0.33879	-0.9851	10	0.62326	D	0.03	1.1897	3.0327	0.06111	0.5493:0.188:0.1346:0.1281	.	1030;990	Q96Q89;Q96Q89-3	KI20B_HUMAN;.	V	990;1060;1030;1030	ENSP00000260753:G990V;ENSP00000411545:G1060V;ENSP00000377830:G1030V;ENSP00000360793:G1030V	ENSP00000260753:G990V	G	+	2	0	KIF20B	91487667	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.229000	0.17833	-0.619000	0.05648	0.591000	0.81541	GGT			0.343	KIF20B-003	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000049330.1		NM_016195	
MUC5B	727897	mdanderson.org	37	11	1247926	1247926	+	Missense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:1247926G>A	ENST00000529681.1	+	4	339	c.281G>A	c.(280-282)cGc>cAc	p.R94H	MUC5B_ENST00000447027.1_Missense_Mutation_p.R94H	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	94	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GACGTCTTCCGCTTCCCTGGC	0.647																																					p.R94H													MUC5B,colon,carcinoma,+1,2	MUC5B	1	2	0			c.G281A												41.0	43.0	42.0					11																	1247926		2150	4262	6412	SO:0001583	missense	727897	exon4			TCTTCCGCTTCCC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.281G>A	11.37:g.1247926G>A	ENSP00000436812:p.Arg94His		Somatic	89	0	0		WXS	Illumina HiSeq	Phase_I	52	0.06	3	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	13.06	2.125620	0.37533	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.59906	0.23;0.23	3.68	3.68	0.42216	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.40145	0.1105	N	0.10916	0.065	0.31539	N	0.660231	P;D;D	0.53745	0.613;0.962;0.962	B;P;P	0.45506	0.101;0.483;0.483	T	0.48514	-0.9029	9	0.87932	D	0	.	7.9703	0.30124	0.0932:0.1639:0.743:0.0	.	94;750;94	Q9HC84;A7Y9J9;E9PBJ0	MUC5B_HUMAN;.;.	H	94;94;94;127	ENSP00000436812:R94H;ENSP00000415793:R94H	ENSP00000343037:R94H	R	+	2	0	MUC5B	1204502	0.984000	0.35163	1.000000	0.80357	0.918000	0.54935	0.915000	0.28638	1.896000	0.54893	0.561000	0.74099	CGC			0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093	
DUSP8	1850	mdanderson.org	37	11	1579076	1579076	+	Missense_Mutation	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:1579076C>T	ENST00000397374.3	-	6	896	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	DUSP8_ENST00000528778.1_5'UTR|DUSP8_ENST00000331588.4_Missense_Mutation_p.A257T	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	257	Tyrosine-protein phosphatase.				inactivation of MAPK activity (GO:0000188)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		TAGGCGATGGCGATGGTGGCA	0.622																																					p.A257T													.	.			0			c.G769A												142.0	126.0	131.0					11																	1579076		2202	4299	6501	SO:0001583	missense	1850	exon6			CGATGGCGATGGT		CCDS7724.1	11p15.5	2011-06-09			ENSG00000184545	ENSG00000184545		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3074	protein-coding gene	gene with protein product	"""serine/threonine specific protein phosphatase"", ""H1 phosphatase, vaccinia virus homolog"""	602038	"""chromosome 11 open reading frame 81"""	C11orf81		7561881, 9192849	Standard	NM_004420		Approved	HVH-5, HB5, FLJ42958	uc001lts.2	Q13202	OTTHUMG00000133348	ENST00000397374.3:c.769G>A	11.37:g.1579076C>T	ENSP00000380530:p.Ala257Thr		Somatic	65	0	0		WXS	Illumina HiSeq	Phase_I	49	0.06	3	NM_004420	5	0.00	0	Q86SS8	Missense_Mutation	SNP	ENST00000397374.3	37	CCDS7724.1	.	.	.	.	.	.	.	.	.	.	C	32	5.144043	0.94603	.	.	ENSG00000184545	ENST00000397374;ENST00000331588	T;T	0.61510	0.1;0.1	3.42	3.42	0.39159	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.64402	U	0.000002	T	0.69913	0.3164	L	0.55213	1.73	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71560	-0.4556	10	0.44086	T	0.13	.	15.0112	0.71552	0.0:1.0:0.0:0.0	.	257	Q13202	DUS8_HUMAN	T	257	ENSP00000380530:A257T;ENSP00000329539:A257T	ENSP00000329539:A257T	A	-	1	0	DUSP8	1535652	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.495000	0.66912	1.739000	0.51704	0.313000	0.20887	GCC			0.622	DUSP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257178.3		NM_004420	
ART5	116969	mdanderson.org	37	11	3661510	3661510	+	Missense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:3661510G>A	ENST00000397068.3	-	2	541	c.149C>T	c.(148-150)gCa>gTa	p.A50V	TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_Missense_Mutation_p.A50V|ART5_ENST00000359918.4_Missense_Mutation_p.A50V	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	50					protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGGGCTGCCTTCTCCTC	0.632																																					p.A50V													.	.			0			c.C149T												37.0	36.0	36.0					11																	3661510		2200	4298	6498	SO:0001583	missense	116969	exon3			GGGGCTGCCTTCT	Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.149C>T	11.37:g.3661510G>A	ENSP00000380258:p.Ala50Val		Somatic	99	0	0		WXS	Illumina HiSeq	Phase_I	60	0.08	5	NM_001079536	39	0.00	0	C9IYG7|Q6UX84|Q86W02	Missense_Mutation	SNP	ENST00000397068.3	37	CCDS7743.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207684	0.39003	.	.	ENSG00000167311	ENST00000397068;ENST00000397067;ENST00000359918;ENST00000425767	T;T;T;T	0.07327	3.2;3.2;3.2;3.2	6.07	5.16	0.70880	.	0.205916	0.45361	D	0.000374	T	0.08846	0.0219	L	0.39514	1.22	0.32140	N	0.585574	P;B	0.48089	0.905;0.117	P;B	0.49853	0.624;0.192	T	0.01574	-1.1321	10	0.02654	T	1	-11.7719	8.3212	0.32130	0.1614:0.0:0.8386:0.0	.	50;50	Q96L15-2;Q96L15	.;NAR5_HUMAN	V	50;50;50;29	ENSP00000380258:A50V;ENSP00000380257:A50V;ENSP00000352992:A50V;ENSP00000413852:A29V	ENSP00000352992:A50V	A	-	2	0	ART5	3618086	0.000000	0.05858	1.000000	0.80357	0.923000	0.55619	0.192000	0.17096	2.885000	0.99019	0.655000	0.94253	GCA			0.632	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000032760.2		NM_053017	
CCKBR	887	mdanderson.org	37	11	6290931	6290931	+	Missense_Mutation	SNP	G	G	T	rs141038981		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:6290931G>T	ENST00000334619.2	+	2	377	c.184G>T	c.(184-186)Gca>Tca	p.A62S	CCKBR_ENST00000525014.1_Missense_Mutation_p.A62S|CCKBR_ENST00000531712.1_3'UTR|CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000525462.1_Missense_Mutation_p.A62S	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	62					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CACTCTTTACGCAGTGATCTT	0.537																																					p.A62S													CCKBR_ENST00000525462,NS,carcinoma,-1,4	CCKBR_ENST00000525462	-1	4	0			c.G184T												106.0	93.0	97.0					11																	6290931		2201	4296	6497	SO:0001583	missense	887	exon2			CTTTACGCAGTGA	D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.184G>T	11.37:g.6290931G>T	ENSP00000335544:p.Ala62Ser		Somatic	88	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_176875	2	0.00	0	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Missense_Mutation	SNP	ENST00000334619.2	37	CCDS7761.1	.	.	.	.	.	.	.	.	.	.	G	2.301	-0.360261	0.05103	.	.	ENSG00000110148	ENST00000334619;ENST00000525014;ENST00000525462	T;T;T	0.35973	1.28;1.28;1.28	4.61	2.71	0.32032	.	0.225760	0.37955	N	0.001877	T	0.19287	0.0463	N	0.19112	0.55	0.36434	D	0.865094	P;B	0.38800	0.648;0.003	B;B	0.36959	0.237;0.005	T	0.11743	-1.0575	10	0.42905	T	0.14	.	4.1711	0.10331	0.0875:0.158:0.5914:0.1631	.	62;62	P32239-2;P32239	.;GASR_HUMAN	S	62	ENSP00000335544:A62S;ENSP00000437001:A62S;ENSP00000435534:A62S	ENSP00000335544:A62S	A	+	1	0	CCKBR	6247507	0.000000	0.05858	0.364000	0.25888	0.859000	0.49053	0.371000	0.20450	0.550000	0.28991	0.563000	0.77884	GCA			0.537	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257230.2		NM_176875	
STX5	6811	mdanderson.org	37	11	62594629	62594629	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:62594629G>T	ENST00000294179.3	-	5	574	c.421C>A	c.(421-423)Cag>Aag	p.Q141K	STX5_ENST00000377897.4_Missense_Mutation_p.Q141K|STX5_ENST00000541317.1_Missense_Mutation_p.Q45K|STX5_ENST00000394690.1_Missense_Mutation_p.Q87K	NM_001244666.1|NM_003164.4	NP_001231595.1|NP_003155.2	Q13190	STX5_HUMAN	syntaxin 5	141					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion with Golgi apparatus (GO:0048280)|vesicle targeting (GO:0006903)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|SNARE complex (GO:0031201)	protein N-terminus binding (GO:0047485)|SNAP receptor activity (GO:0005484)			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TAGCTCACCTGTTTGATGATA	0.453																																					p.Q141K													.	.			0			c.C421A												90.0	78.0	82.0					11																	62594629		2201	4299	6500	SO:0001583	missense	6811	exon5			TCACCTGTTTGAT	U26648	CCDS8038.2, CCDS58140.1	11q12.3	2008-02-05	2006-04-25	2006-04-25	ENSG00000162236	ENSG00000162236			11440	protein-coding gene	gene with protein product		603189	"""syntaxin 5A"""	STX5A		9188044, 11959998	Standard	NM_003164		Approved	SED5	uc001nvh.3	Q13190	OTTHUMG00000143864	ENST00000294179.3:c.421C>A	11.37:g.62594629G>T	ENSP00000294179:p.Gln141Lys		Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_003164	27	0.00	0	B2R8T2|F8W8Q9|Q5U0D4|Q7Z3T6|Q9BUG1	Missense_Mutation	SNP	ENST00000294179.3	37	CCDS8038.2	.	.	.	.	.	.	.	.	.	.	G	34	5.332500	0.95733	.	.	ENSG00000162236	ENST00000377897;ENST00000294179;ENST00000394690;ENST00000541317	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.47	5.47	0.80525	t-SNARE (1);Syntaxin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	L	0.60957	1.885	0.80722	D	1	P;P	0.52316	0.941;0.952	P;P	0.58820	0.761;0.846	T	0.01323	-1.1385	10	0.19590	T	0.45	0.3268	16.8262	0.85931	0.0:0.0:1.0:0.0	.	141;141	F8W8Q9;Q13190	.;STX5_HUMAN	K	141;141;87;45	ENSP00000367129:Q141K;ENSP00000294179:Q141K;ENSP00000378182:Q87K;ENSP00000441428:Q45K	ENSP00000294179:Q141K	Q	-	1	0	STX5	62351205	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.330000	0.96422	2.571000	0.86741	0.655000	0.94253	CAG			0.453	STX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000290113.1		NM_003164	
NRXN2	9379	mdanderson.org	37	11	64428409	64428409	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:64428409G>T	ENST00000377551.1	-	9	2212	c.2001C>A	c.(1999-2001)agC>agA	p.S667R	NRXN2_ENST00000265459.6_Missense_Mutation_p.S667R|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377559.3_Missense_Mutation_p.S636R|NRXN2_ENST00000496291.1_5'UTR|NRXN2_ENST00000409571.1_Missense_Mutation_p.S660R			Q9P2S2	NRX2A_HUMAN	neurexin 2	667	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GGAGGTCTCGGCTACGCCCAT	0.692																																					p.S667R													.	.			0			c.C2001A												37.0	37.0	37.0					11																	64428409		2201	4297	6498	SO:0001583	missense	9379	exon10			GTCTCGGCTACGC		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2001C>A	11.37:g.64428409G>T	ENSP00000366774:p.Ser667Arg		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	46	0.09	4	NM_015080	82	0.00	0	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144007	0.77888	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	4.52	1.51	0.23008	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.50627	U	0.000107	T	0.80513	0.4637	M	0.63428	1.95	0.50467	D	0.99987	D;D;D	0.76494	0.999;0.998;0.972	D;D;P	0.75020	0.985;0.957;0.635	T	0.78879	-0.2030	10	0.87932	D	0	.	7.7581	0.28936	0.3022:0.0:0.6978:0.0	.	636;667;413	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	R	667;636;667;636;660	ENSP00000366774:S667R;ENSP00000366782:S636R;ENSP00000265459:S667R;ENSP00000386416:S660R	ENSP00000265459:S667R	S	-	3	2	NRXN2	64184985	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	2.669000	0.46825	0.521000	0.28445	0.555000	0.69702	AGC			0.692	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000104967.3		NM_015080	
ATG2A	23130	mdanderson.org	37	11	64668089	64668089	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:64668089G>T	ENST00000377264.3	-	31	4453	c.4341C>A	c.(4339-4341)ggC>ggA	p.G1447G	ATG2A_ENST00000421419.2_Silent_p.G1449G	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1447					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GACCTGAGAGGCCAGTTCTTG	0.672																																					p.G1447G													.	.			0			c.C4341A												26.0	36.0	32.0					11																	64668089		2201	4297	6498	SO:0001819	synonymous_variant	23130	exon31			TGAGAGGCCAGTT		CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.4341C>A	11.37:g.64668089G>T			Somatic	28	0	0		WXS	Illumina HiSeq	Phase_I	23	0.13	3	NM_015104	228	0.00	0	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Silent	SNP	ENST00000377264.3	37	CCDS31602.1	.	.	.	.	.	.	.	.	.	.	G	3.765	-0.048783	0.07407	.	.	ENSG00000110046	ENST00000418259	.	.	.	4.46	3.53	0.40419	.	.	.	.	.	T	0.62454	0.2429	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60682	-0.7215	4	.	.	.	.	11.739	0.51781	0.0:0.0:0.8221:0.1779	.	.	.	.	T	1251	.	.	P	-	1	0	ATG2A	64424665	0.994000	0.37717	0.893000	0.35052	0.451000	0.32288	2.986000	0.49370	1.214000	0.43395	0.561000	0.74099	CCT			0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000143224.1		NM_015104	
SPTBN2	6712	mdanderson.org	37	11	66468434	66468434	+	Missense_Mutation	SNP	C	C	A	rs199703911		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:66468434C>A	ENST00000533211.1	-	17	3467	c.3136G>T	c.(3136-3138)Ggc>Tgc	p.G1046C	SPTBN2_ENST00000529997.1_Missense_Mutation_p.G1046C|SPTBN2_ENST00000309996.2_Missense_Mutation_p.G1046C			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1046					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TCCTCCCAGCCGGTCTGCACC	0.687																																					p.G1046C													.	.			0			c.G3136T												23.0	26.0	25.0					11																	66468434		2199	4289	6488	SO:0001583	missense	6712	exon16			CCCAGCCGGTCTG	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.3136G>T	11.37:g.66468434C>A	ENSP00000432568:p.Gly1046Cys		Somatic	35	0	0		WXS	Illumina HiSeq	Phase_I	16	0.13	2	NM_006946	14	0.00	0	O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.692970	0.48202	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.35421	1.31;1.31;1.31	4.7	2.82	0.32997	.	0.125201	0.53938	D	0.000050	T	0.33294	0.0858	N	0.12182	0.205	0.35170	D	0.77148	D	0.67145	0.996	D	0.63488	0.915	T	0.44112	-0.9349	10	0.56958	D	0.05	.	6.4865	0.22091	0.0:0.6297:0.0:0.3703	.	1046	O15020	SPTN2_HUMAN	C	1046	ENSP00000432568:G1046C;ENSP00000311489:G1046C;ENSP00000433593:G1046C	ENSP00000311489:G1046C	G	-	1	0	SPTBN2	66225010	0.932000	0.31603	0.608000	0.28969	0.600000	0.36913	3.924000	0.56476	0.595000	0.29777	0.491000	0.48974	GGC			0.687	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393892.2		NM_006946	
RHOD	29984	mdanderson.org	37	11	66837951	66837951	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:66837951G>T	ENST00000308831.2	+	4	471	c.386G>T	c.(385-387)tGc>tTc	p.C129F	RHOD_ENST00000532559.1_Missense_Mutation_p.C63F|RHOD_ENST00000533360.1_3'UTR	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	129					actin filament bundle assembly (GO:0051017)|focal adhesion assembly (GO:0048041)|GTP catabolic process (GO:0006184)|lamellipodium assembly (GO:0030032)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(3)	3						GTCGTGGGCTGCAAGACTGAC	0.572																																					p.C129F													.	.			0			c.G386T												116.0	96.0	103.0					11																	66837951		2200	4295	6495	SO:0001583	missense	29984	exon4			TGGGCTGCAAGAC	D85815	CCDS8155.1, CCDS73330.1	11q14.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000173156	ENSG00000173156			670	protein-coding gene	gene with protein product	"""Rho-related protein HP1"", ""Rho-related GTP-binding protein RhoD"""	605781	"""ras homolog gene family, member D"""	ARHD		9116026	Standard	NM_014578		Approved	RhoHP1, RhoD, Rho	uc001ojv.3	O00212	OTTHUMG00000167102	ENST00000308831.2:c.386G>T	11.37:g.66837951G>T	ENSP00000308576:p.Cys129Phe		Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_014578	15	0.00	0		Missense_Mutation	SNP	ENST00000308831.2	37	CCDS8155.1	.	.	.	.	.	.	.	.	.	.	G	19.38	3.816217	0.70912	.	.	ENSG00000173156	ENST00000308831;ENST00000532559	T;T	0.69806	-0.43;-0.43	4.75	4.75	0.60458	Small GTP-binding protein domain (1);	0.000000	0.52532	D	0.000073	D	0.83880	0.5350	M	0.89601	3.045	0.46317	D	0.998983	D	0.76494	0.999	D	0.87578	0.998	D	0.86944	0.2081	10	0.87932	D	0	-2.2271	13.1331	0.59393	0.0:0.0:1.0:0.0	.	129	O00212	RHOD_HUMAN	F	129;63	ENSP00000308576:C129F;ENSP00000432003:C63F	ENSP00000308576:C129F	C	+	2	0	RHOD	66594527	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.791000	0.55469	2.471000	0.83476	0.655000	0.94253	TGC			0.572	RHOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393136.1		NM_014578	
ALG8	79053	bcgsc.ca;mdanderson.org	37	11	77825007	77825007	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:77825007G>T	ENST00000299626.5	-	7	773	c.702C>A	c.(700-702)agC>agA	p.S234R	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Missense_Mutation_p.S234R	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	234					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CACGAACAAAGCTGAAACTCT	0.383																																					p.S234R													.	ALG8	54		0			c.C702A												110.0	88.0	96.0					11																	77825007		2198	4291	6489	SO:0001583	missense	79053	exon7			AACAAAGCTGAAA	AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.702C>A	11.37:g.77825007G>T	ENSP00000299626:p.Ser234Arg		Somatic	184	0	0		WXS	Illumina HiSeq	Phase_1	87	0.06	5	NM_024079	34	0.00	0	A6NDW6|O60860	Missense_Mutation	SNP	ENST00000299626.5	37	CCDS8258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.529|4.529	0.098230|0.098230	0.08681|0.08681	.|.	.|.	ENSG00000159063|ENSG00000159063	ENST00000532306;ENST00000529139|ENST00000299626;ENST00000376156;ENST00000532440;ENST00000525755;ENST00000530454;ENST00000525870	.|D;D;D;D;D;D	.|0.83419	.|-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.87|4.87	1.98|1.98	0.26296|0.26296	.|.	.|0.164627	.|0.64402	.|D	.|0.000003	T|T	0.67748|0.67748	0.2926|0.2926	N|N	0.17723|0.17723	0.515|0.515	0.50039|0.50039	D|D	0.999848|0.999848	.|B;B;B	.|0.14438	.|0.01;0.002;0.006	.|B;B;B	.|0.16289	.|0.013;0.011;0.015	T|T	0.54370|0.54370	-0.8304|-0.8304	5|10	.|0.18276	.|T	.|0.48	-2.2089|-2.2089	10.303|10.303	0.43663|0.43663	0.2087:0.0:0.7913:0.0|0.2087:0.0:0.7913:0.0	.|.	.|234;234;234	.|B3KQL8;Q9BVK2;A6NDW6	.|.;ALG8_HUMAN;.	D|R	108;79|234;234;52;183;235;146	.|ENSP00000299626:S234R;ENSP00000365326:S234R;ENSP00000433429:S52R;ENSP00000435467:S183R;ENSP00000434660:S235R;ENSP00000435417:S146R	.|ENSP00000299626:S234R	A|S	-|-	2|3	0|2	ALG8|ALG8	77502655|77502655	0.999000|0.999000	0.42202|0.42202	0.269000|0.269000	0.24586|0.24586	0.168000|0.168000	0.22595|0.22595	1.279000|1.279000	0.33191|0.33191	0.348000|0.348000	0.23949|0.23949	0.655000|0.655000	0.94253|0.94253	GCT|AGC			0.383	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390637.1		NM_024079	
ALG9	79796	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	111728380	111728380	+	Missense_Mutation	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:111728380C>T	ENST00000531154.1	-	6	605	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	ALG9_ENST00000527228.1_5'UTR|ALG9_ENST00000524880.1_3'UTR|ALG9_ENST00000398006.2_Missense_Mutation_p.V45M	NM_024740.2	NP_079016.2	Q9H6U8	ALG9_HUMAN	ALG9, alpha-1,2-mannosyltransferase	216					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dol-P-Man:Man(6)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052926)|dol-P-Man:Man(8)GlcNAc(2)-PP-Dol alpha-1,2-mannosyltransferase activity (GO:0052918)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.81e-07)|BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|all cancers(92;1.3e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0587)		ACTCCCAGCACAGCAATGGAA	0.468																																					p.V216M													.	.			0			c.G646A												83.0	80.0	81.0					11																	111728380		1974	4175	6149	SO:0001583	missense	79796	exon7			CCAGCACAGCAAT		CCDS41714.1, CCDS53709.1, CCDS73379.1, CCDS73380.1	11q23	2013-02-26	2013-02-26	2004-08-26	ENSG00000086848	ENSG00000086848	2.4.1.259, 2.4.1.261	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	15672	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(6)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dolichyl-P-Man:Man(8)GlcNAc(2)-PP-dolichol alpha-1,2-mannosyltransferase"", ""dol-P-Man dependent alpha-1,2-mannosyltransferase"""	606941	"""disrupted in bipolar affective disorder 1"", ""asparagine-linked glycosylation 9 homolog (yeast, alpha 1,2 mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha- 1,2-mannosyltransferase homolog (S. cerevisiae, alpha- 1,2-mannosyltransferase)"", ""asparagine-linked glycosylation 9, alpha-1,2-mannosyltransferase homolog (S. cerevisiae)"""	DIBD1		12030331, 15148656	Standard	NM_024740		Approved		uc021qql.1	Q9H6U8	OTTHUMG00000166819	ENST00000531154.1:c.133G>A	11.37:g.111728380C>T	ENSP00000435517:p.Val45Met		Somatic	75	0	0		WXS	Illumina HiSeq	.	37	0.38	14	NM_001077690	28	0.75	21	Q6ZMD5|Q7Z4R4|Q96GS7|Q96PB9|Q9H068	Missense_Mutation	SNP	ENST00000531154.1	37	CCDS41714.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644134	0.87859	.	.	ENSG00000086848	ENST00000531154;ENST00000398006;ENST00000428306	T;T	0.64803	-0.12;-0.12	5.98	5.98	0.97165	.	0.111909	0.64402	D	0.000016	T	0.77350	0.4117	L	0.59436	1.845	0.58432	D	0.999997	D;P;D;D	0.71674	0.997;0.915;0.998;0.96	D;P;D;P	0.72338	0.944;0.697;0.977;0.856	T	0.73126	-0.4081	10	0.38643	T	0.18	-5.6364	20.4366	0.99092	0.0:1.0:0.0:0.0	.	45;216;449;216	B4DQI3;Q9H6U8-3;B4DYW0;Q9H6U8	.;.;.;ALG9_HUMAN	M	45;45;449	ENSP00000435517:V45M;ENSP00000381090:V45M	ENSP00000381090:V45M	V	-	1	0	ALG9	111233590	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.006000	0.57083	2.843000	0.97960	0.585000	0.79938	GTG			0.468	ALG9-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000391485.1		NM_024740	
CEP164	22897	bcgsc.ca	37	11	117263330	117263330	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:117263330G>T	ENST00000278935.3	+	19	2627	c.2480G>T	c.(2479-2481)gGg>gTg	p.G827V	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	827	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CACGTGGCTGGGTATGAGCAC	0.562																																					p.G830V													.	CEP164	121		0			c.G2489T												148.0	140.0	143.0					11																	117263330		2201	4296	6497	SO:0001583	missense	22897	exon18			TGGCTGGGTATGA	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2480G>T	11.37:g.117263330G>T	ENSP00000278935:p.Gly827Val		Somatic	119	0	0		WXS	Illumina HiSeq	Phase_1	48	0.08	4	NM_001271933	12	0.00	0	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704271	0.15172	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.39997	1.05	4.52	3.38	0.38709	.	0.373597	0.23046	N	0.052544	T	0.24392	0.0591	N	0.08118	0	0.41278	D	0.986893	B;B;B;B	0.23650	0.089;0.062;0.027;0.027	B;B;B;B	0.29353	0.075;0.101;0.047;0.047	T	0.08371	-1.0725	10	0.72032	D	0.01	-6.8028	8.9342	0.35688	0.9144:0.0:0.0856:0.0	.	801;601;827;830	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	V	827;801;708	ENSP00000278935:G827V	ENSP00000278935:G827V	G	+	2	0	CEP164	116768540	1.000000	0.71417	0.881000	0.34555	0.137000	0.21094	2.877000	0.48506	0.758000	0.33059	-0.415000	0.06103	GGG			0.562	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000392893.1		NM_014956	
VSIG2	23584	mdanderson.org	37	11	124621416	124621416	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr11:124621416G>T	ENST00000326621.5	-	2	222	c.122C>A	c.(121-123)gCc>gAc	p.A41D	VSIG2_ENST00000403470.1_Missense_Mutation_p.A41D	NM_014312.3	NP_055127.2	Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	41	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		GGTCAGCTCGGCTGTCTTCCC	0.647																																					p.A41D													.	.			0			c.C122A												84.0	65.0	72.0					11																	124621416		2201	4299	6500	SO:0001583	missense	23584	exon2			AGCTCGGCTGTCT	AF061022	CCDS8452.1	11q24	2013-01-11			ENSG00000019102	ENSG00000019102		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	17149	protein-coding gene	gene with protein product		606011				9862345	Standard	NM_014312		Approved	CTXL, CTH	uc001qas.3	Q96IQ7	OTTHUMG00000150357	ENST00000326621.5:c.122C>A	11.37:g.124621416G>T	ENSP00000318684:p.Ala41Asp		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	20	0.15	3	NM_014312	3	0.00	0	O95791|Q9NX42	Missense_Mutation	SNP	ENST00000326621.5	37	CCDS8452.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892417	0.52121	.	.	ENSG00000019102	ENST00000326621;ENST00000403470	T;T	0.69040	-0.37;-0.37	4.62	3.68	0.42216	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.326553	0.25836	N	0.027991	T	0.77226	0.4099	M	0.79123	2.44	0.20489	N	0.999891	D	0.69078	0.997	D	0.68039	0.955	T	0.66822	-0.5826	10	0.72032	D	0.01	.	7.3778	0.26839	0.1843:0.0:0.8157:0.0	.	41	Q96IQ7	VSIG2_HUMAN	D	41	ENSP00000318684:A41D;ENSP00000385013:A41D	ENSP00000318684:A41D	A	-	2	0	VSIG2	124126626	0.037000	0.19845	0.561000	0.28357	0.468000	0.32798	1.088000	0.30877	2.388000	0.81334	0.655000	0.94253	GCC			0.647	VSIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000317785.1		NM_014312	
MAGOHB	55110	broad.mit.edu	37	12	10762454	10762454	+	Silent	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:10762454A>G	ENST00000320756.2	-	3	330	c.240T>C	c.(238-240)ccT>ccC	p.P80P	MAGOHB_ENST00000381881.2_Intron|MAGOHB_ENST00000539554.1_Silent_p.P34P	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)	80					mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|large_intestine(2)	4						TATCAGGGGGAGGCCACAAAG	0.323																																					p.P80P													.	MAGOHB	17		0			c.T240C												111.0	110.0	110.0					12																	10762454		2203	4300	6503	SO:0001819	synonymous_variant	55110	exon3			AGGGGGAGGCCAC		CCDS8628.1	12p13.2	2014-02-12	2008-01-24		ENSG00000111196	ENSG00000111196			25504	protein-coding gene	gene with protein product							Standard	NM_018048		Approved	FLJ10292, MGN2	uc001qyq.2	Q96A72	OTTHUMG00000168407	ENST00000320756.2:c.240T>C	12.37:g.10762454A>G			Somatic	74	0	0		WXS	Illumina HiSeq	Phase_I	125	0.03	4	NM_018048	240	0.00	0		Silent	SNP	ENST00000320756.2	37	CCDS8628.1																																																																																					0.323	MAGOHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000399616.1		NM_018048	
DDX11	1663	ucsc.edu	37	12	31244689	31244689	+	Missense_Mutation	SNP	G	G	A	rs397842879		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:31244689G>A	ENST00000407793.2	+	10	1377	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	DDX11_ENST00000350437.4_Missense_Mutation_p.A376T|DDX11_ENST00000545668.1_Missense_Mutation_p.A376T|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A376T|DDX11_ENST00000228264.6_Missense_Mutation_p.A350T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	376	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GCTGCATGCGGCCACTCGGCA	0.672										Multiple Myeloma(12;0.14)																											p.A376T													.	DDX11	188		0			c.G1126A												26.0	25.0	26.0					12																	31244689		2194	4289	6483	SO:0001583	missense	1663	exon10			CATGCGGCCACTC	U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1126G>A	12.37:g.31244689G>A	ENSP00000384703:p.Ala376Thr		Somatic	112	0.0982142857	11		RNA-Seq	Illumina HiSeq		173	0.13	23	NM_030653	138	0.26	36	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	7.984	0.751761	0.15778	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.71461	-0.57;1.0;-0.57;1.0;1.0	3.05	3.05	0.35203	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.324166	0.32703	N	0.005754	T	0.68109	0.2965	L	0.55834	1.745	0.80722	D	1	P;P;D;P;P	0.59767	0.633;0.814;0.986;0.814;0.905	P;B;P;B;B	0.49799	0.507;0.313;0.622;0.294;0.392	T	0.69300	-0.5181	10	0.56958	D	0.05	.	7.318	0.26511	0.0:0.0:0.738:0.262	.	101;350;376;376;376	Q93000;Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;.;DDX11_HUMAN;.;.	T	376;376;101;350;376;376	ENSP00000443426:A376T;ENSP00000384703:A376T;ENSP00000228264:A350T;ENSP00000440402:A376T;ENSP00000309965:A376T	ENSP00000228264:A350T	A	+	1	0	DDX11	31135956	0.935000	0.31712	0.573000	0.28510	0.048000	0.14542	1.665000	0.37449	1.535000	0.49220	0.505000	0.49811	GCC			0.672	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000399728.1		NM_030653	
ASIC1	41	broad.mit.edu;mdanderson.org	37	12	50471790	50471790	+	Silent	SNP	G	G	T	rs149521223	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:50471790G>T	ENST00000447966.2	+	5	946	c.717G>T	c.(715-717)acG>acT	p.T239T	ASIC1_ENST00000552438.1_Silent_p.T273T|ASIC1_ENST00000228468.4_Silent_p.T239T	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	239					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	TAGACGAGACGTCCTTCGAAG	0.567																																					p.T273T													ACCN2,NS,carcinoma,0,1	.		1	0			c.G819T												160.0	129.0	139.0					12																	50471790		2203	4300	6503	SO:0001819	synonymous_variant	41	exon3			CGAGACGTCCTTC	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.717G>T	12.37:g.50471790G>T			Somatic	72	0	0		WXS	Illumina HiSeq	Phase_I	77	0.05	4	NM_001256830	13	0.00	0	A3KN86|E5KBL7|P78349|Q96CV2	Silent	SNP	ENST00000447966.2	37	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	G	8.941	0.965840	0.18583	.	.	ENSG00000110881	ENST00000453327	.	.	.	4.18	-1.42	0.08913	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28073	-1.0055	4	.	.	.	-10.8698	1.7327	0.02935	0.3697:0.3152:0.1972:0.1179	.	.	.	.	L	107	.	.	R	+	2	0	ACCN2	48758057	0.130000	0.22417	0.997000	0.53966	0.966000	0.64601	-0.452000	0.06787	-0.083000	0.12618	-0.300000	0.09419	CGT			0.567	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000406004.2		NM_020039	
KRT82	3888	mdanderson.org	37	12	52790015	52790015	+	Splice_Site	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:52790015C>T	ENST00000257974.2	-	7	1147	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	357	Coil 2.|Rod.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AAGTTTGCAGCGCTGTGGGAG	0.642																																					p.R357H													.	.			0			c.G1070A												23.0	20.0	21.0					12																	52790015		2203	4300	6503	SO:0001630	splice_region_variant	3888	exon7			TTGCAGCGCTGTG	Y19207	CCDS8826.1	12q13	2013-01-16	2006-07-17	2006-07-17		ENSG00000161850		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6459	protein-coding gene	gene with protein product	"""hard keratin type II 2"""	601078	"""keratin, hair, basic, 2"""	KRTHB2		2431943, 16831889	Standard	NM_033033		Approved	Hb-2	uc001sai.1	Q9NSB4	OTTHUMG00000169636	ENST00000257974.2:c.1069-1G>A	12.37:g.52790015C>T			Somatic	24	0	0		WXS	Illumina HiSeq	Phase_I	18	0.11	2	NM_033033	0		0		Missense_Mutation	SNP	ENST00000257974.2	37	CCDS8826.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803312	0.31869	.	.	ENSG00000161850	ENST00000257974	D	0.89415	-2.51	4.61	4.61	0.57282	Filament (1);	0.000000	0.49305	D	0.000157	D	0.92990	0.7769	M	0.83384	2.64	0.32570	N	0.52986	D	0.89917	1.0	D	0.71870	0.975	D	0.93009	0.6430	10	0.54805	T	0.06	.	6.7441	0.23453	0.0:0.7248:0.1807:0.0944	.	357	Q9NSB4	KRT82_HUMAN	H	357	ENSP00000257974:R357H	ENSP00000257974:R357H	R	-	2	0	KRT82	51076282	0.003000	0.15002	0.998000	0.56505	0.299000	0.27559	0.360000	0.20250	2.566000	0.86566	0.561000	0.74099	CGC			0.642	KRT82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000405189.1		NM_033033	Missense_Mutation
NTN4	59277	broad.mit.edu	37	12	96180865	96180865	+	Missense_Mutation	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr12:96180865C>T	ENST00000343702.4	-	2	885	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NTN4_ENST00000344911.4_Missense_Mutation_p.R109H|NTN4_ENST00000538383.1_Missense_Mutation_p.R109H|NTN4_ENST00000553059.1_Missense_Mutation_p.R146H	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	146	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTCCTGGGAGCGGTCCAGCAC	0.498																																					p.R146H													.	NTN4	67		0			c.G437A												75.0	75.0	75.0					12																	96180865		2203	4300	6503	SO:0001583	missense	59277	exon2			TGGGAGCGGTCCA	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.437G>A	12.37:g.96180865C>T	ENSP00000340998:p.Arg146His		Somatic	112	0.0089285714	1		WXS	Illumina HiSeq	Phase_I	83	0.04	3	NM_021229	3	0.00	0	B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	Missense_Mutation	SNP	ENST00000343702.4	37	CCDS9054.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982261	0.93044	.	.	ENSG00000074527	ENST00000343702;ENST00000344911;ENST00000538383;ENST00000553059;ENST00000547980	D;D;D;D;D	0.84800	-1.9;-1.9;-1.9;-1.9;-1.9	5.62	5.62	0.85841	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.95140	0.8425	H	0.95816	3.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96096	0.9065	10	0.87932	D	0	.	19.6639	0.95886	0.0:1.0:0.0:0.0	.	146;146	Q9HB63-2;Q9HB63	.;NET4_HUMAN	H	146;109;109;146;109	ENSP00000340998:R146H;ENSP00000339436:R109H;ENSP00000444432:R109H;ENSP00000447292:R146H;ENSP00000447594:R109H	ENSP00000340998:R146H	R	-	2	0	NTN4	94704996	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.294000	0.78760	2.650000	0.89964	0.555000	0.69702	CGC			0.498	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000408372.1		NM_021229	
SACS	26278	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	13	23909357	23909357	+	Missense_Mutation	SNP	G	G	C			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr13:23909357G>C	ENST00000382292.3	-	9	8931	c.8658C>G	c.(8656-8658)caC>caG	p.H2886Q	SACS_ENST00000402364.1_Missense_Mutation_p.H2136Q|SACS_ENST00000382298.3_Missense_Mutation_p.H2886Q			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2886					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAGTGCAAAGTGGCCATTCA	0.443																																					p.H2886Q													.	.			0			c.C8658G												65.0	66.0	66.0					13																	23909357		2203	4299	6502	SO:0001583	missense	26278	exon10			TGCAAAGTGGCCA	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8658C>G	13.37:g.23909357G>C	ENSP00000371729:p.His2886Gln		Somatic	100	0	0		WXS	Illumina HiSeq	.	82	0.33	27	NM_014363	19	0.47	9	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461225	0.63513	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.87412	-2.11;-2.25;-2.11	5.4	3.65	0.41850	.	0.000000	0.85682	D	0.000000	D	0.89653	0.6777	L	0.50333	1.59	0.34794	D	0.736049	D	0.76494	0.999	D	0.78314	0.991	D	0.89650	0.3869	10	0.33940	T	0.23	.	9.7552	0.40500	0.2164:0.0:0.7836:0.0	.	2886	Q9NZJ4	SACS_HUMAN	Q	2886;2136;2886	ENSP00000371729:H2886Q;ENSP00000385844:H2136Q;ENSP00000371735:H2886Q	ENSP00000371729:H2886Q	H	-	3	2	SACS	22807357	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	1.608000	0.36847	0.628000	0.30357	0.555000	0.69702	CAC			0.443	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000044148.3		NM_014363	
KIF26A	26153	mdanderson.org	37	14	104643748	104643748	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr14:104643748G>T	ENST00000423312.2	+	12	4623	c.4623G>T	c.(4621-4623)ggG>ggT	p.G1541G	KIF26A_ENST00000315264.7_Silent_p.G1402G	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1541					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACGGGCCGGGCCCAGTGTCG	0.721																																					p.G1541G													.	.			0			c.G4623T												3.0	5.0	4.0					14																	104643748		1666	3757	5423	SO:0001819	synonymous_variant	26153	exon12			GGCCGGGCCCAGT	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.4623G>T	14.37:g.104643748G>T			Somatic	12	0	0		WXS	Illumina HiSeq	Phase_I	19	0.11	2	NM_015656	172	0.01	1	Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	CCDS45171.1																																																																																					0.721	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000414356.1			
GOLGA8DP	100132979	broad.mit.edu	37	15	22714031	22714032	+	RNA	INS	-	-	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:22714031_22714032insA	ENST00000314246.8	-	0	58							Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											ATCATGGCTAGAAAAAAAAAGA	0.376																																					.													.	.			0			.																																											0	.			TGGCTAGAAAAAA			15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22714040_22714040dupA			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	10	0.60	6	.	0		0		RNA	INS	ENST00000314246.8	37																																																																																						0.376	GOLGA8DP-002	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000415613.1		NR_027407	
GABRB3	2562	mdanderson.org	37	15	26812790	26812790	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:26812790G>T	ENST00000311550.5	-	7	884	c.773C>A	c.(772-774)aCg>aAg	p.T258K	GABRB3_ENST00000400188.3_Missense_Mutation_p.T187K|GABRB3_ENST00000541819.2_Missense_Mutation_p.T314K|GABRB3_ENST00000545868.1_Missense_Mutation_p.T173K|GABRB3_ENST00000299267.4_Missense_Mutation_p.T258K	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	258					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.T258M(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGACAGAATCGTTATCAGTAT	0.408																																					p.T258K													GABRB3_ENST00000541819,colon,carcinoma,+1,7	GABRB3_ENST00000541819	1	7	1	Substitution - Missense(1)	large_intestine(1)	c.C773A												131.0	111.0	118.0					15																	26812790		2203	4300	6503	SO:0001583	missense	2562	exon7			AGAATCGTTATCA		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.773C>A	15.37:g.26812790G>T	ENSP00000308725:p.Thr258Lys		Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_021912	7	0.00	0	B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.567636	0.65651	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.86097	-2.07;-2.07;-2.07;-2.07;-2.07	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.93769	0.8008	M	0.87097	2.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.995;0.998	D	0.93877	0.7167	10	0.87932	D	0	.	19.6125	0.95613	0.0:0.0:1.0:0.0	.	314;258;258	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	K	258;314;258;187;173	ENSP00000308725:T258K;ENSP00000442408:T314K;ENSP00000299267:T258K;ENSP00000383049:T187K;ENSP00000439169:T173K	ENSP00000299267:T258K	T	-	2	0	GABRB3	24363883	1.000000	0.71417	0.288000	0.24862	0.033000	0.12548	9.724000	0.98775	2.879000	0.98667	0.650000	0.86243	ACG			0.408	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251352.2			
SPTBN5	51332	mdanderson.org	37	15	42177937	42177937	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:42177937G>T	ENST00000320955.6	-	7	1743	c.1516C>A	c.(1516-1518)Cgc>Agc	p.R506S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	506					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTCACCTGCGGGCCACATCT	0.637																																					p.R471S													.	.			0			c.C1411A												13.0	16.0	15.0					15																	42177937		2121	4217	6338	SO:0001583	missense	51332	exon7			ACCTGCGGGCCAC	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.1516C>A	15.37:g.42177937G>T	ENSP00000317790:p.Arg506Ser		Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	26	0.12	3	NM_016642	0		0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	G	9.064	0.995117	0.19043	.	.	ENSG00000137877	ENST00000320955	T	0.47177	0.85	4.19	-2.96	0.05547	.	1.033030	0.07705	N	0.941091	T	0.27134	0.0665	N	0.21448	0.665	0.09310	N	1	B	0.18461	0.028	B	0.27262	0.078	T	0.30119	-0.9989	10	0.08837	T	0.75	.	4.6927	0.12788	0.3256:0.0:0.453:0.2214	.	506	Q9NRC6	SPTN5_HUMAN	S	506	ENSP00000317790:R506S	ENSP00000317790:R506S	R	-	1	0	SPTBN5	39965229	0.000000	0.05858	0.172000	0.22920	0.932000	0.56968	-1.519000	0.02243	-0.969000	0.03573	-0.140000	0.14226	CGC			0.637	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642	
TTBK2	146057	mdanderson.org	37	15	43067340	43067340	+	Missense_Mutation	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:43067340A>G	ENST00000267890.6	-	13	2099	c.1991T>C	c.(1990-1992)cTt>cCt	p.L664P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	664					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TACCGCTGTAAGGGGTCCTTC	0.428																																					p.L664P													.	.			0			c.T1991C												75.0	71.0	72.0					15																	43067340		1832	4092	5924	SO:0001583	missense	146057	exon13			GCTGTAAGGGGTC	AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.1991T>C	15.37:g.43067340A>G	ENSP00000267890:p.Leu664Pro		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	22	0.14	3	NM_173500	3	0.00	0	O94932|Q6ZN52|Q8IVV1	Missense_Mutation	SNP	ENST00000267890.6	37	CCDS42029.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045870	0.55110	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.55760	0.5	5.53	5.53	0.82687	.	0.159565	0.42964	D	0.000632	T	0.66819	0.2828	L	0.59436	1.845	0.80722	D	1	D;P	0.71674	0.998;0.783	P;P	0.61800	0.894;0.53	T	0.70432	-0.4873	10	0.87932	D	0	.	15.6764	0.77326	1.0:0.0:0.0:0.0	.	595;664	Q6IQ55-2;Q6IQ55	.;TTBK2_HUMAN	P	664;594;1069	ENSP00000267890:L664P	ENSP00000263802:L1069P	L	-	2	0	TTBK2	40854632	1.000000	0.71417	0.982000	0.44146	0.997000	0.91878	8.476000	0.90421	2.111000	0.64477	0.528000	0.53228	CTT			0.428	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000431106.2		NM_173500	
ARID3B	10620	broad.mit.edu	37	15	74836313	74836313	+	Silent	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:74836313G>A	ENST00000346246.5	+	2	267	c.36G>A	c.(34-36)caG>caA	p.Q12Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	12	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						agcagcagcagcaacaacaga	0.567																																					p.Q12Q													ARID3B,rectum,carcinoma,0,2	ARID3B	35	2	0			c.G36A												17.0	21.0	20.0					15																	74836313		2194	4294	6488	SO:0001819	synonymous_variant	10620	exon2			GCAGCAGCAACAA		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.36G>A	15.37:g.74836313G>A			Somatic	110	0	0		WXS	Illumina HiSeq	Phase_I	107	0.05	5	NM_006465	42	0.00	0	O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	CCDS10264.1																																																																																					0.567	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000280688.2		NM_006465	
Unknown	0	bcgsc.ca	37	15	90479942	90479942	+	IGR	SNP	C	C	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:90479942C>A								C15orf38 (23754 upstream) : ZNF710 (64681 downstream)																							AGGGCATAGGCCTGCAATTTC	0.502																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			CATAGGCCTGCAA																													15.37:g.90479942C>A			Somatic	37	0	0		WXS	Illumina HiSeq	Phase_1	24	0.17	4	.	0		0		RNA	SNP		37																																																																																					0	0.502										
ZNF710	374655	mdanderson.org	37	15	90617483	90617483	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:90617483G>T	ENST00000268154.4	+	4	2037	c.1786G>T	c.(1786-1788)Gtc>Ttc	p.V596F	RP11-617F23.1_ENST00000558334.1_RNA	NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	596					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCACATGAAGGTCAAGCATGG	0.592																																					p.V596F													.	.			0			c.G1786T												55.0	48.0	50.0					15																	90617483		2200	4298	6498	SO:0001583	missense	374655	exon4			ATGAAGGTCAAGC	AK094712	CCDS10358.1	15q26.1	2013-01-08			ENSG00000140548	ENSG00000140548		"""Zinc fingers, C2H2-type"""	25352	protein-coding gene	gene with protein product							Standard	XM_005254905		Approved	DKFZp547K1113, FLJ37393, FLJ00306	uc002bov.2	Q8N1W2	OTTHUMG00000149812	ENST00000268154.4:c.1786G>T	15.37:g.90617483G>T	ENSP00000268154:p.Val596Phe		Somatic	62	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_198526	61	0.00	0	A0AVS3|Q6ZMK9|Q8NDU0	Missense_Mutation	SNP	ENST00000268154.4	37	CCDS10358.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595517	0.86953	.	.	ENSG00000140548	ENST00000268154	T	0.09911	2.93	5.2	5.2	0.72013	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.211332	0.28583	N	0.014835	T	0.23965	0.0580	L	0.33753	1.03	0.53688	D	0.999973	D	0.76494	0.999	D	0.70016	0.967	T	0.00601	-1.1650	10	0.87932	D	0	-50.5813	17.485	0.87684	0.0:0.0:1.0:0.0	.	596	Q8N1W2	ZN710_HUMAN	F	596	ENSP00000268154:V596F	ENSP00000268154:V596F	V	+	1	0	ZNF710	88418487	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.616000	0.74205	2.704000	0.92352	0.650000	0.86243	GTC			0.592	ZNF710-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313423.1		NM_198526	
SV2B	9899	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	91810817	91810817	+	Silent	SNP	G	G	T	rs368688126		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr15:91810817G>T	ENST00000394232.1	+	8	1622	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	SV2B_ENST00000330276.4_Silent_p.G384G|SV2B_ENST00000545111.2_Silent_p.G233G	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	384					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGTGATGGGGCCCTACAGAA	0.453																																					p.G384G													.	.			0			c.G1152T												269.0	224.0	239.0					15																	91810817		2198	4298	6496	SO:0001819	synonymous_variant	9899	exon9			GATGGGGCCCTAC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1152G>T	15.37:g.91810817G>T			Somatic	192	0	0		WXS	Illumina HiSeq	.	133	0.29	39	NM_014848	1	1.00	1	B4DH30|C6G489|O94840|Q6IAR8	Silent	SNP	ENST00000394232.1	37	CCDS10370.1																																																																																					0.453	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313494.3		NM_014848	
CACNA1H	8912	broad.mit.edu	37	16	1245464	1245464	+	Silent	SNP	G	G	T	rs560099947	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:1245464G>T	ENST00000348261.5	+	4	692	c.444G>T	c.(442-444)gcG>gcT	p.A148A	CACNA1H_ENST00000358590.4_Silent_p.A148A|CACNA1H_ENST00000565831.1_Silent_p.A148A	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	148					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CCTTTTTTGCGGTGGAGATGG	0.597													g|||	2	0.000399361	0.0	0.0	5008	,	,		9707	0.001		0.0	False		,,,				2504	0.001				p.A148A													.	CACNA1H	317		0			c.G444T												96.0	88.0	91.0					16																	1245464		2017	4172	6189	SO:0001819	synonymous_variant	8912	exon4			TTTTGCGGTGGAG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.444G>T	16.37:g.1245464G>T			Somatic	156	0	0		WXS	Illumina HiSeq	Phase_I	63	0.05	3	NM_021098	4	0.00	0	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Silent	SNP	ENST00000348261.5	37	CCDS45375.1																																																																																					0.597	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000421601.1		NM_001005407	
SPSB3	90864	mdanderson.org	37	16	1828458	1828458	+	Silent	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:1828458G>A	ENST00000566339.1	-	3	612	c.282C>T	c.(280-282)tgC>tgT	p.C94C	SPSB3_ENST00000301717.4_Silent_p.C94C	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	94	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTCCGCAGCGGCAGTCCCTGC	0.716																																					p.C94C													.	.			0			c.C282T												19.0	23.0	22.0					16																	1828458		2196	4292	6488	SO:0001819	synonymous_variant	90864	exon3			GCAGCGGCAGTCC		CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.282C>T	16.37:g.1828458G>A			Somatic	45	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_080861	119	0.00	0	D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Silent	SNP	ENST00000566339.1	37	CCDS32365.1																																																																																					0.716	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000433512.1		NM_080861	
C16orf89	146556	hgsc.bcm.edu	37	16	5106086	5106086	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:5106086G>T	ENST00000315997.5	-	5	932	c.731C>A	c.(730-732)gCc>gAc	p.A244D	C16orf89_ENST00000474471.3_Missense_Mutation_p.A244D|C16orf89_ENST00000350219.4_Missense_Mutation_p.A282D|ALG1_ENST00000588623.1_Intron|C16orf89_ENST00000472572.3_Missense_Mutation_p.A244D|C16orf89_ENST00000422873.1_Missense_Mutation_p.A282D	NM_152459.4	NP_689672.4	Q6UX73	CP089_HUMAN	chromosome 16 open reading frame 89	244						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	12						GGTAGGGTAGGCGTATCCGAT	0.572																																					p.A244D													.	.			0			c.C731A												125.0	122.0	123.0					16																	5106086		2056	4220	6276	SO:0001583	missense	146556	exon5			GGGTAGGCGTATC		CCDS42116.1, CCDS45404.1, CCDS42116.2, CCDS45404.2	16p13.3	2011-12-12			ENSG00000153446	ENSG00000153446			28687	protein-coding gene	gene with protein product						12975309, 20578903	Standard	NM_001098514		Approved	MGC45438	uc010bud.3	Q6UX73	OTTHUMG00000159314	ENST00000315997.5:c.731C>A	16.37:g.5106086G>T	ENSP00000324672:p.Ala244Asp		Somatic	123	0	0		WXS	Illumina HiSeq	.	88	0.05	4	NM_001098514	0		0	B4DUM5|Q8N2I3|Q8N4T1	Missense_Mutation	SNP	ENST00000315997.5	37	CCDS42116.2	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891301	0.33442	.	.	ENSG00000153446	ENST00000474471;ENST00000472572;ENST00000477550;ENST00000422873;ENST00000350219;ENST00000315997	T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48	5.72	2.57	0.30868	.	0.877224	0.10036	N	0.724069	T	0.30510	0.0767	M	0.68317	2.08	0.09310	N	1	P;P	0.43352	0.651;0.804	B;B	0.43301	0.15;0.415	T	0.15435	-1.0437	10	0.18276	T	0.48	-16.4827	4.6665	0.12668	0.1766:0.0:0.6503:0.173	.	244;282	Q6UX73;G3V0F0	CP089_HUMAN;.	D	244;244;244;282;282;244	ENSP00000417158:A244D;ENSP00000420566:A244D;ENSP00000390402:A282D;ENSP00000283478:A282D;ENSP00000324672:A244D	ENSP00000324672:A244D	A	-	2	0	C16orf89	5046087	0.002000	0.14202	0.390000	0.26220	0.199000	0.23934	0.775000	0.26689	0.784000	0.33661	-0.229000	0.12294	GCC			0.572	C16orf89-001	KNOWN	upstream_ATG|basic|CCDS	protein_coding	protein_coding		OTTHUMT00000354524.1		NM_152459	
SNX29P2	440352	hgsc.bcm.edu	37	16	29375983	29375983	+	RNA	SNP	T	T	C			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:29375983T>C	ENST00000507381.1	+	0	743				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2																		tttcttttttttctttttttt	0.338																																					.													.	.			0			.												16.0	16.0	16.0					16																	29375983		1894	4083	5977			440352	.			TTTTTTTTCTTTT	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29375983T>C			Somatic	95	0	0		WXS	Illumina HiSeq	.	82	0.05	4	.	0		0		RNA	SNP	ENST00000507381.1	37																																																																																						0.338	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000361855.1		NR_002939	
ADCY7	113	ucsc.edu	37	16	50327364	50327364	+	Missense_Mutation	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:50327364C>T	ENST00000394697.2	+	6	1127	c.787C>T	c.(787-789)Cct>Tct	p.P263S	ADCY7_ENST00000537579.1_Missense_Mutation_p.P263S|ADCY7_ENST00000538642.1_Missense_Mutation_p.P263S|ADCY7_ENST00000254235.3_Missense_Mutation_p.P263S|ADCY7_ENST00000566433.2_Missense_Mutation_p.P263S|ADCY7_ENST00000564044.1_3'UTR			P51828	ADCY7_HUMAN	adenylate cyclase 7	263					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		TCGCTGCATGCCTGACAACAA	0.587																																					p.P263S													.	ADCY7	90		0			c.C787T												121.0	95.0	104.0					16																	50327364		2198	4300	6498	SO:0001583	missense	113	exon5			TGCATGCCTGACA	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.787C>T	16.37:g.50327364C>T	ENSP00000378187:p.Pro263Ser		Somatic	107	0.0093457944	1		WXS	Illumina HiSeq		45	0.09	4	NM_001114	15	0.00	0	A0AVA6	Missense_Mutation	SNP	ENST00000394697.2	37	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	C	9.234	1.036471	0.19669	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	T;D;T;D	0.81499	-0.99;-1.5;-0.99;-1.5	5.18	5.18	0.71444	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.161832	0.28958	U	0.013596	T	0.73791	0.3632	L	0.39898	1.24	0.37028	D	0.896554	B;B	0.20887	0.002;0.049	B;B	0.25506	0.004;0.061	T	0.70037	-0.4982	10	0.07325	T	0.83	.	19.046	0.93019	0.0:1.0:0.0:0.0	.	263;263	P51828;F5H4D1	ADCY7_HUMAN;.	S	263	ENSP00000445046:P263S;ENSP00000378187:P263S;ENSP00000437788:P263S;ENSP00000254235:P263S	ENSP00000254235:P263S	P	+	1	0	ADCY7	48884865	1.000000	0.71417	0.901000	0.35422	0.076000	0.17211	4.477000	0.60223	2.553000	0.86117	0.655000	0.94253	CCT			0.587	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256877.3			
DHX38	9785	mdanderson.org	37	16	72141698	72141698	+	Splice_Site	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr16:72141698G>T	ENST00000268482.3	+	21	3473	c.2964G>T	c.(2962-2964)aaG>aaT	p.K988N	DHX38_ENST00000536867.1_Splice_Site_p.K300N	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	988					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACAGGCCCAAGGTGGGGCAGC	0.587																																					p.K988N	Melanoma(97;711 1442 7855 13832 28836)												.	.			0			c.G2964T												56.0	49.0	52.0					16																	72141698		2198	4300	6498	SO:0001630	splice_region_variant	9785	exon21			GCCCAAGGTGGGG	AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2964+1G>T	16.37:g.72141698G>T			Somatic	39	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_014003	113	0.00	0	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	ENST00000268482.3	37	CCDS10907.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130013	0.94473	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.04194	3.68;3.68	5.43	5.43	0.79202	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	M	0.89534	3.04	0.80722	D	1	D;P	0.67145	0.996;0.78	D;P	0.70487	0.969;0.474	T	0.05533	-1.0879	10	0.87932	D	0	.	18.1605	0.89706	0.0:0.0:1.0:0.0	.	300;988	B4DVG8;Q92620	.;PRP16_HUMAN	N	988;300	ENSP00000268482:K988N;ENSP00000437898:K300N	ENSP00000268482:K988N	K	+	3	2	DHX38	70699199	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.402000	0.97298	2.825000	0.97269	0.655000	0.94253	AAG			0.587	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000269004.3		NM_014003	Missense_Mutation
GSG2	83903	mdanderson.org	37	17	3627691	3627691	+	Silent	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:3627691C>T	ENST00000325418.4	+	1	481	c.462C>T	c.(460-462)ggC>ggT	p.G154G	ITGAE_ENST00000571185.1_5'UTR|ITGAE_ENST00000263087.4_Intron|CTD-3195I5.3_ENST00000571741.1_RNA	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	154					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GCGTGTGCGGCCAGCCCAGGG	0.721																																					p.G154G													.	.			0			c.C462T												13.0	15.0	14.0					17																	3627691		2197	4294	6491	SO:0001819	synonymous_variant	83903	exon1			GTGCGGCCAGCCC	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.462C>T	17.37:g.3627691C>T			Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	45	0.07	3	NM_031965	20	0.00	0	Q5U5K3|Q96MN1|Q9BXS7	Silent	SNP	ENST00000325418.4	37	CCDS11036.1																																																																																					0.721	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207391.1		NM_031965	
ZZEF1	23140	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	3999200	3999200	+	Missense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:3999200G>A	ENST00000381638.2	-	11	1962	c.1838C>T	c.(1837-1839)gCg>gTg	p.A613V	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	613							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTGTTCTTCCGCACAAAATTT	0.403																																					p.A613V													.	.			0			c.C1838T												77.0	77.0	77.0					17																	3999200		2203	4300	6503	SO:0001583	missense	23140	exon11			TCTTCCGCACAAA	BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.1838C>T	17.37:g.3999200G>A	ENSP00000371051:p.Ala613Val		Somatic	132	0	0		WXS	Illumina HiSeq	.	118	0.25	30	NM_015113	39	0.28	11	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.626866	0.96671	.	.	ENSG00000074755	ENST00000381638	T	0.22336	1.96	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66716	0.946;0.884	T	0.02424	-1.1161	10	0.59425	D	0.04	-13.6388	20.8794	0.99867	0.0:0.0:1.0:0.0	.	613;613	O43149-3;O43149	.;ZZEF1_HUMAN	V	613	ENSP00000371051:A613V	ENSP00000371051:A613V	A	-	2	0	ZZEF1	3945949	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.490000	0.81461	2.941000	0.99782	0.655000	0.94253	GCG			0.403	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000207480.1		NM_015113	
MRPL45P2	653479	broad.mit.edu	37	17	45567245	45567246	+	RNA	INS	-	-	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:45567245_45567246insA	ENST00000575291.1	-	0	385									mitochondrial ribosomal protein L45 pseudogene 2																		aactccatctcaaaaaaaaaaa	0.401																																					.													.	.			0			.																																											0	.			CCATCTCAAAAAA			17q21.32	2010-09-29				ENSG00000228782			29716	pseudogene	pseudogene						12706105	Standard	NR_033934		Approved		uc002ilq.3				17.37:g.45567256_45567256dupA			Somatic	6	0	0		WXS	Illumina HiSeq	Phase_I	6	0.50	3	.	0		0		RNA	INS	ENST00000575291.1	37																																																																																						0.401	MRPL45P2-001	KNOWN	basic	processed_transcript	pseudogene		OTTHUMT00000441112.1		NR_033934	
CDK5RAP3	80279	mdanderson.org	37	17	46052882	46052882	+	Silent	SNP	C	C	A	rs369343510	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:46052882C>A	ENST00000338399.4	+	7	622	c.516C>A	c.(514-516)ggC>ggA	p.G172G	CDK5RAP3_ENST00000536708.2_Silent_p.G197G|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	172					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTCTCTAGGGCGAAAATGTCC	0.567																																					p.G172G													CDK5RAP3,NS,carcinoma,0,1	CDK5RAP3	0	1	0			c.C516A												51.0	55.0	54.0					17																	46052882		2078	4219	6297	SO:0001819	synonymous_variant	80279	exon7			CTAGGGCGAAAAT	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.516C>A	17.37:g.46052882C>A			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	13	0.23	3	NM_176096	313	0.00	0	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	ENST00000338399.4	37	CCDS42356.1																																																																																					0.567	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000442913.1		NM_176096	
CACNA1G	8913	mdanderson.org	37	17	48697094	48697094	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:48697094G>T	ENST00000359106.5	+	34	5832	c.5832G>T	c.(5830-5832)gaG>gaT	p.E1944D	CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000354983.4_Missense_Mutation_p.E1910D|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.E1944D|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000510115.1_Missense_Mutation_p.E1910D|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000515411.1_Missense_Mutation_p.E1926D|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.E1899D|CACNA1G_ENST00000515765.1_Missense_Mutation_p.E1933D|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000507336.1_Missense_Mutation_p.E1933D	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1944					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTCCCTGGAGTGGGAGCTGA	0.672																																					p.E1944D													.	.			0			c.G5832T												22.0	26.0	25.0					17																	48697094		1953	4139	6092	SO:0001583	missense	8913	exon34			CCTGGAGTGGGAG	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5832G>T	17.37:g.48697094G>T	ENSP00000352011:p.Glu1944Asp		Somatic	36	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_198385	1	0.00	0	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	13.43	2.234738	0.39498	.	.	ENSG00000006283	ENST00000354983;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000510115;ENST00000515765;ENST00000359106;ENST00000515411	D;D;D;D;D;D;D;D	0.96940	-4.16;-4.11;-4.18;-4.18;-4.09;-4.1;-4.18;-4.11	4.66	-7.64	0.01286	.	3.456800	0.00649	N	0.000557	D	0.90202	0.6937	L	0.38175	1.15	0.34118	D	0.663745	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B	0.09377	0.0;0.001;0.004;0.0;0.003;0.001;0.001;0.001	T	0.78435	-0.2205	10	0.12766	T	0.61	.	2.4861	0.04599	0.2202:0.4387:0.122:0.2191	.	1926;1899;1933;1933;1921;1944;1910;1944	Q19R07;Q19QY8;Q19QZ7;Q19QZ8;O43497-4;Q19R02;Q19R11;O43497	.;.;.;.;.;.;.;CAC1G_HUMAN	D	1910;1944;1933;1899;1910;1933;1944;1926	ENSP00000347078:E1910D;ENSP00000423112:E1944D;ENSP00000420918:E1933D;ENSP00000426172:E1899D;ENSP00000427173:E1910D;ENSP00000426232:E1933D;ENSP00000352011:E1944D;ENSP00000423155:E1926D	ENSP00000347078:E1910D	E	+	3	2	CACNA1G	46052093	0.558000	0.26554	0.830000	0.32933	0.984000	0.73092	-0.212000	0.09319	-1.565000	0.01676	-0.312000	0.09012	GAG			0.672	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000367895.1		NM_018896	
PGS1	9489	broad.mit.edu	37	17	76411043	76411043	+	Missense_Mutation	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:76411043C>T	ENST00000262764.6	+	8	1512	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	PGS1_ENST00000329897.7_Missense_Mutation_p.R361W|PGS1_ENST00000588281.1_3'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	496					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			GTCAGTTCACCGGGACCTGGA	0.607																																					p.R496W	Esophageal Squamous(45;182 1126 10685 43198)												.	PGS1	30		0			c.C1486T												60.0	64.0	63.0					17																	76411043		2070	4218	6288	SO:0001583	missense	9489	exon8			GTTCACCGGGACC		CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.1486C>T	17.37:g.76411043C>T	ENSP00000262764:p.Arg496Trp		Somatic	105	0	0		WXS	Illumina HiSeq	Phase_I	85	0.05	4	NM_024419	99	0.00	0	B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945968	0.73672	.	.	ENSG00000087157	ENST00000262764;ENST00000329897	T;T	0.14893	2.47;2.47	4.52	4.52	0.55395	.	0.299706	0.35772	N	0.002984	T	0.41971	0.1182	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.63283	0.913	T	0.45323	-0.9269	10	0.66056	D	0.02	-12.8531	12.5518	0.56231	0.1662:0.8338:0.0:0.0	.	496	Q32NB8	PGPS1_HUMAN	W	496;361	ENSP00000262764:R496W;ENSP00000330039:R361W	ENSP00000262764:R496W	R	+	1	2	PGS1	73922638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.081000	0.57627	2.337000	0.79520	0.561000	0.74099	CGG			0.607	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000437301.1		NM_024419	
RNF213	57674	broad.mit.edu	37	17	78313950	78313951	+	In_Frame_Ins	INS	-	-	GGTCTGTGA	rs181142554		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:78313950_78313951insGGTCTGTGA	ENST00000582970.1	+	26	5926_5927	c.5783_5784insGGTCTGTGA	c.(5782-5787)atggtc>atGGTCTGTGAggtc	p.1929_1930insCEV	RNF213_ENST00000508628.2_In_Frame_Ins_p.1978_1979insCEV|RNF213_ENST00000336301.6_Start_Codon_Ins	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	1929					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAGCTCGTCATGGTCTGTGATG	0.609																																					p.M1928delinsMVCE													.	RNF213	766		0			c.5783_5784insGGTCTGTGA																																									SO:0001652	inframe_insertion	57674	exon26			TCGTCATGGTCTG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.5784_5792dupGGTCTGTGA	17.37:g.78313951_78313959dupGGTCTGTGA	ENSP00000464087:p.Val1929_Cys1930insCysGluVal		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	72	0.11	8	NM_001256071	23	0.00	0	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	In_Frame_Ins	INS	ENST00000582970.1	37	CCDS58606.1																																																																																					0.609	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000443298.1		NM_020914	
B3GNTL1	146712	broad.mit.edu	37	17	81006578	81006578	+	Silent	SNP	G	G	T	rs368812056		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr17:81006578G>T	ENST00000320865.3	-	2	157	c.144C>A	c.(142-144)acC>acA	p.T48T	B3GNTL1_ENST00000576599.1_5'UTR|B3GNTL1_ENST00000571954.1_5'UTR	NM_001009905.1	NP_001009905.1	Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	48							transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			ACAGCTCCATGGTACCTTCAA	0.478																																					p.T48T													.	B3GNTL1	40		0			c.C144A							G		1,4405	2.1+/-5.4	0,1,2202	98.0	94.0	96.0		144	2.1	0.2	17		96	0,8600		0,0,4300	no	coding-synonymous	B3GNTL1	NM_001009905.1		0,1,6502	TT,TG,GG		0.0,0.0227,0.0077		48/362	81006578	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	146712	exon2			CTCCATGGTACCT	AY634364	CCDS32778.1	17q25.3	2013-02-22	2004-01-13	2004-01-14	ENSG00000175711	ENSG00000175711		"""Glycosyltransferase family 2 domain containing"""	21727	protein-coding gene	gene with protein product		615337					Standard	NM_001009905		Approved	B3GNT8	uc002kgg.1	Q67FW5	OTTHUMG00000177788	ENST00000320865.3:c.144C>A	17.37:g.81006578G>T			Somatic	134	0	0		WXS	Illumina HiSeq	Phase_I	97	0.03	3	NM_001009905	3	0.00	0	Q6GV30|Q8WUT3	Silent	SNP	ENST00000320865.3	37	CCDS32778.1																																																																																					0.478	B3GNTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000438949.1		NM_001009905	
MISP	126353	mdanderson.org	37	19	758104	758104	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:758104G>T	ENST00000215582.6	+	2	1261	c.1158G>T	c.(1156-1158)caG>caT	p.Q386H		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	386					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											AGGGTCCCCAGCCCGGACTCC	0.682																																					p.Q386H													.	.			0			c.G1158T												11.0	13.0	12.0					19																	758104		2188	4286	6474	SO:0001583	missense	126353	exon2			TCCCCAGCCCGGA	BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.1158G>T	19.37:g.758104G>T	ENSP00000215582:p.Gln386His		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_173481	0		0		Missense_Mutation	SNP	ENST00000215582.6	37	CCDS12042.1	.	.	.	.	.	.	.	.	.	.	G	16.92	3.255955	0.59321	.	.	ENSG00000099812	ENST00000215582	T	0.37915	1.17	4.54	1.11	0.20524	.	1.381770	0.05207	N	0.506013	T	0.50326	0.1609	L	0.60455	1.87	0.09310	N	1	D	0.55605	0.972	P	0.57468	0.821	T	0.37197	-0.9716	10	0.54805	T	0.06	-1.4881	8.4628	0.32938	0.2722:0.0:0.7278:0.0	.	386	Q8IVT2	CS021_HUMAN	H	386	ENSP00000215582:Q386H	ENSP00000215582:Q386H	Q	+	3	2	C19orf21	709104	0.138000	0.22547	0.008000	0.14137	0.064000	0.16182	2.198000	0.42705	0.461000	0.27071	0.491000	0.48974	CAG			0.682	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000457600.2		NM_173481	
KDM4B	23030	mdanderson.org	37	19	5131404	5131404	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:5131404G>T	ENST00000159111.4	+	12	1851	c.1633G>T	c.(1633-1635)Gtg>Ttg	p.V545L	KDM4B_ENST00000536461.1_Missense_Mutation_p.V579L	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	545					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCAGGAGCACGTGTCCTGCCA	0.647																																					p.V545L													.	.			0			c.G1633T												41.0	41.0	41.0					19																	5131404		2200	4293	6493	SO:0001583	missense	23030	exon12			GAGCACGTGTCCT	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1633G>T	19.37:g.5131404G>T	ENSP00000159111:p.Val545Leu		Somatic	76	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_015015	33	0.00	0	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	ENST00000159111.4	37	CCDS12138.1	.	.	.	.	.	.	.	.	.	.	G	2.862	-0.236000	0.05944	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.18338	2.22;2.23	3.9	-1.31	0.09230	.	3.313100	0.01012	N	0.003857	T	0.12008	0.0292	L	0.36672	1.1	0.09310	N	1	B;B	0.14012	0.001;0.009	B;B	0.09377	0.001;0.004	T	0.14282	-1.0478	10	0.20046	T	0.44	-0.8652	1.3139	0.02103	0.3513:0.1541:0.3548:0.1397	.	579;545	F5GX28;O94953	.;KDM4B_HUMAN	L	545;579	ENSP00000159111:V545L;ENSP00000440495:V579L	ENSP00000159111:V545L	V	+	1	0	KDM4B	5082404	0.022000	0.18835	0.000000	0.03702	0.037000	0.13140	0.180000	0.16860	-0.506000	0.06558	-1.134000	0.01955	GTG			0.647	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000450558.1		NM_015015	
AP1M1	8907	mdanderson.org	37	19	16337286	16337286	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:16337286C>T	ENST00000291439.3	+	6	1050	c.601C>T	c.(601-603)Cga>Tga	p.R201*	AP1M1_ENST00000444449.2_Nonsense_Mutation_p.R213*|AP1M1_ENST00000590756.1_Nonsense_Mutation_p.R129*|AP1M1_ENST00000541844.1_Nonsense_Mutation_p.R129*|AP1M1_ENST00000429941.2_Nonsense_Mutation_p.R201*	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	201	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CATCAAGATGCGAGTCTTCCT	0.657																																					p.R213X													.	.			0			c.C637T												58.0	38.0	45.0					19																	16337286		2197	4297	6494	SO:0001587	stop_gained	8907	exon7			AAGATGCGAGTCT		CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.601C>T	19.37:g.16337286C>T	ENSP00000291439:p.Arg201*		Somatic	29	0	0		WXS	Illumina HiSeq	Phase_I	25	0.12	3	NM_001130524	179	0.00	0	Q4TTY5	Nonsense_Mutation	SNP	ENST00000291439.3	37	CCDS12342.1	.	.	.	.	.	.	.	.	.	.	C	32	5.146100	0.94603	.	.	ENSG00000072958	ENST00000444449;ENST00000291439;ENST00000541844;ENST00000429941	.	.	.	3.97	2.87	0.33458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10111	T	0.7	-30.5228	10.807	0.46524	0.2459:0.7541:0.0:0.0	.	.	.	.	X	213;201;129;201	.	ENSP00000291439:R201X	R	+	1	2	AP1M1	16198286	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	0.865000	0.27940	2.056000	0.61249	0.561000	0.74099	CGA			0.657	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000460492.1		NM_032493	
F2RL3	9002	mdanderson.org	37	19	17000758	17000758	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:17000758G>T	ENST00000248076.3	+	2	814	c.484G>T	c.(484-486)Ggc>Tgc	p.G162C	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	162					blood coagulation (GO:0007596)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|platelet dense granule organization (GO:0060155)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCACATGTATGGCTCAGTGCT	0.746																																					p.G162C													.	.			0			c.G484T												8.0	9.0	9.0					19																	17000758		2144	4196	6340	SO:0001583	missense	9002	exon2			ATGTATGGCTCAG	AF055917	CCDS12350.1	19p12	2012-08-08						"""GPCR / Class A : Protease activated receptors"""	3540	protein-coding gene	gene with protein product	"""proteinase-activated receptor-4"""	602779				9618465	Standard	XM_005260139		Approved	PAR4	uc002nfa.3	Q96RI0		ENST00000248076.3:c.484G>T	19.37:g.17000758G>T	ENSP00000248076:p.Gly162Cys		Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	21	0.14	3	NM_003950	0		0	O76067|Q6DK42	Missense_Mutation	SNP	ENST00000248076.3	37	CCDS12350.1	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.493586	0.01009	.	.	ENSG00000127533	ENST00000248076	T	0.71934	-0.61	4.3	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	0.315897	0.29948	N	0.010796	T	0.38612	0.1047	N	0.05510	-0.035	0.48395	D	0.999649	B	0.12013	0.005	B	0.23150	0.044	T	0.41342	-0.9514	10	0.02654	T	1	.	9.5038	0.39033	0.0907:0.0:0.1717:0.7376	.	162	Q96RI0	PAR4_HUMAN	C	162	ENSP00000248076:G162C	ENSP00000248076:G162C	G	+	1	0	F2RL3	16861758	0.998000	0.40836	0.242000	0.24170	0.073000	0.16967	0.478000	0.22212	-0.397000	0.07691	-0.500000	0.04577	GGC			0.746	F2RL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000462875.1			
SRRM5	100170229	mdanderson.org	37	19	44116881	44116881	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:44116881G>T	ENST00000607544.1	+	3	930	c.608G>T	c.(607-609)gGt>gTt	p.G203V	ZNF428_ENST00000300811.3_Intron|SRRM5_ENST00000417606.1_Missense_Mutation_p.G203V|SRRM5_ENST00000526798.1_Missense_Mutation_p.G218V			B3KS81	SRRM5_HUMAN	serine/arginine repetitive matrix 5	203	Ser-rich.									endometrium(11)|kidney(2)|skin(1)|stomach(1)	15						GGAGGCTCAGGTATAGGGAGG	0.547																																					p.G203V													.	.			0			c.G608T												92.0	100.0	98.0					19																	44116881		692	1591	2283	SO:0001583	missense	100170229	exon1			GCTCAGGTATAGG	AK297891	CCDS46095.1	19q13.31	2013-09-20			ENSG00000226763	ENSG00000226763			37248	protein-coding gene	gene with protein product							Standard	NM_001145641		Approved		uc010xwr.2	B3KS81	OTTHUMG00000165480	ENST00000607544.1:c.608G>T	19.37:g.44116881G>T	ENSP00000476253:p.Gly203Val		Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_001145641	6	0.00	0	B4DNF0	Missense_Mutation	SNP	ENST00000607544.1	37	CCDS46095.1	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187535	0.57909	.	.	ENSG00000226763	ENST00000526798;ENST00000417606	.	.	.	4.1	-3.84	0.04256	.	.	.	.	.	T	0.32346	0.0826	N	0.19112	0.55	0.09310	N	0.999999	D	0.57571	0.98	P	0.60068	0.868	T	0.26815	-1.0092	8	0.59425	D	0.04	.	5.1638	0.15075	0.3369:0.2618:0.4012:0.0	.	203	B3KS81	SRRM5_HUMAN	V	218;203	.	ENSP00000414512:G203V	G	+	2	0	SRRM5	48808721	0.043000	0.20138	0.000000	0.03702	0.358000	0.29455	0.108000	0.15396	-0.523000	0.06409	0.655000	0.94253	GGT			0.547	SRRM5-001	KNOWN	alternative_5_UTR|upstream_ATG|basic|appris_candidate|readthrough_transcript|CCDS	protein_coding	protein_coding		OTTHUMT00000384398.2		NM_001145641	
ZNF233	353355	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	44778517	44778517	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:44778517G>T	ENST00000391958.2	+	5	1831	c.1704G>T	c.(1702-1704)gtG>gtT	p.V568V	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Silent_p.V550V|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	568					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				AATGTGATGTGTGTGGGAAAG	0.453																																					p.V568V													.	.			0			c.G1704T												95.0	89.0	91.0					19																	44778517		2203	4300	6503	SO:0001819	synonymous_variant	353355	exon5			TGATGTGTGTGGG	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.1704G>T	19.37:g.44778517G>T			Somatic	94	0	0		WXS	Illumina HiSeq	.	96	0.20	19	NM_001207005	14	0.14	2	B2RN78|B2RN79|Q86WL8	Silent	SNP	ENST00000391958.2	37	CCDS33047.1																																																																																					0.453	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000460737.1		NM_181756	
PPP5D1	100506012	ucsc.edu;bcgsc.ca	37	19	47028997	47028997	+	Missense_Mutation	SNP	C	C	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:47028997C>A	ENST00000414155.1	-	3	510	c.280G>T	c.(280-282)Gtg>Ttg	p.V94L				E7EU14	PP5D1_HUMAN	PPP5 tetratricopeptide repeat domain containing 1	94																	GTGATTGTCACTTTGTCGTCC	0.562																																					p.V94L													.	.			0			c.G280T																																									SO:0001583	missense	100506012	exon3			TTGTCACTTTGTC			19q13.32	2013-01-11	2012-07-20		ENSG00000230510	ENSG00000230510		"""Tetratricopeptide (TTC) repeat domain containing"""	44209	protein-coding gene	gene with protein product							Standard	NM_001205281		Approved		uc021uwg.1	E7EU14		ENST00000414155.1:c.280G>T	19.37:g.47028997C>A	ENSP00000392262:p.Val94Leu		Somatic	43	0	0		WXS	Illumina HiSeq		18	0.22	4	NM_001205281	1	0.00	0	B3KSW5	Missense_Mutation	SNP	ENST00000414155.1	37		.	.	.	.	.	.	.	.	.	.	C	15.24	2.775747	0.49786	.	.	ENSG00000230510	ENST00000414155	T	0.50548	0.74	2.76	2.76	0.32466	.	.	.	.	.	T	0.59998	0.2235	M	0.62723	1.935	0.30543	N	0.766215	P	0.42941	0.794	P	0.57101	0.813	T	0.60224	-0.7305	9	0.54805	T	0.06	.	10.9524	0.47336	0.0:1.0:0.0:0.0	.	94	E7EU14	.	L	94	ENSP00000392262:V94L	ENSP00000392262:V94L	V	-	1	0	AC011551.1	51720837	1.000000	0.71417	0.996000	0.52242	0.062000	0.15995	7.136000	0.77285	1.369000	0.46134	0.184000	0.17185	GTG			0.562	PPP5D1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000466560.1		NM_001205281	
EPS8L1	54869	mdanderson.org	37	19	55593969	55593969	+	Splice_Site	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr19:55593969G>T	ENST00000201647.6	+	12	1269	c.1213G>T	c.(1213-1215)Ggg>Tgg	p.G405W	EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000245618.5_Splice_Site_p.G278W|EPS8L1_ENST00000586329.1_Splice_Site_p.G387W|EPS8L1_ENST00000540810.1_Splice_Site_p.G341W|EPS8L1_ENST00000588359.1_Splice_Site_p.G59W	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	405					positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ruffle assembly (GO:1900029)|regulation of Rho protein signal transduction (GO:0035023)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|T cell receptor binding (GO:0042608)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GACCCGCCCCGGGTGAGGGGC	0.642																																					p.G405W	Ovarian(149;255 1863 3636 27051 29647)												EPS8L1_ENST00000310075,colon,carcinoma,0,3	EPS8L1_ENST00000310075	0	3	0			c.G1213T												4.0	4.0	4.0					19																	55593969		1882	3773	5655	SO:0001630	splice_region_variant	54869	exon12			CGCCCCGGGTGAG	AK057052	CCDS12914.1, CCDS12915.1	19q13.42	2008-02-05				ENSG00000131037			21295	protein-coding gene	gene with protein product		614987				12620401	Standard	NM_133180		Approved	FLJ20258, DRC3, MGC23164, MGC4642	uc002qis.4	Q8TE68		ENST00000201647.6:c.1214+1G>T	19.37:g.55593969G>T			Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_133180	24	0.00	0	Q71RE2|Q8NC10|Q96BB7|Q9BSQ2|Q9GZQ2|Q9NXH0	Missense_Mutation	SNP	ENST00000201647.6	37	CCDS12914.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975622	0.34848	.	.	ENSG00000131037	ENST00000310075;ENST00000201647;ENST00000540810;ENST00000245618;ENST00000539118	T;T;T	0.05717	3.65;3.41;3.4	4.05	4.05	0.47172	.	0.127201	0.49305	D	0.000150	T	0.17109	0.0411	L	0.48362	1.52	0.27802	N	0.942456	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.996;0.99;0.993;0.996	T	0.00605	-1.1648	10	0.59425	D	0.04	-29.705	11.9005	0.52680	0.0:0.0:1.0:0.0	.	341;387;152;278;405	B4DKV7;Q8TE68-3;Q8TE68-4;Q8TE68-2;Q8TE68	.;.;.;.;ES8L1_HUMAN	W	387;405;341;278;59	ENSP00000201647:G405W;ENSP00000437541:G341W;ENSP00000245618:G278W	ENSP00000201647:G405W	G	+	1	0	EPS8L1	60285781	0.008000	0.16893	0.679000	0.29978	0.245000	0.25701	0.078000	0.14761	2.262000	0.75019	0.561000	0.74099	GGG			0.642	EPS8L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000451713.1		NM_017729	Missense_Mutation
BIRC6	57448	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	32690161	32690161	+	Missense_Mutation	SNP	C	C	T	rs368963586		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:32690161C>T	ENST00000421745.2	+	26	5419	c.5285C>T	c.(5284-5286)gCa>gTa	p.A1762V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1762					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTAGCCCTTGCAATTTCTCAT	0.323																																					p.A1762V	Pancreas(94;175 1509 16028 18060 45422)												BIRC6_ENST00000421745,NS,carcinoma,+2,2	BIRC6_ENST00000421745	2	2	0			c.C5285T												62.0	61.0	61.0					2																	32690161		2203	4299	6502	SO:0001583	missense	57448	exon26			CCCTTGCAATTTC	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5285C>T	2.37:g.32690161C>T	ENSP00000393596:p.Ala1762Val		Somatic	575	0	0		WXS	Illumina HiSeq	.	567	0.21	118	NM_016252	167	0.29	49	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	36	5.847373	0.97023	.	.	ENSG00000115760	ENST00000421745	T	0.73789	-0.78	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.82098	0.4963	L	0.38531	1.155	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.81653	-0.0835	10	0.54805	T	0.06	.	20.3213	0.98679	0.0:1.0:0.0:0.0	.	1762	Q9NR09	BIRC6_HUMAN	V	1762	ENSP00000393596:A1762V	ENSP00000393596:A1762V	A	+	2	0	BIRC6	32543665	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.081000	0.71309	2.810000	0.96702	0.650000	0.86243	GCA			0.323	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318769.3		NM_016252	
ABCG8	64241	mdanderson.org	37	2	44071743	44071743	+	Missense_Mutation	SNP	A	A	T	rs4148211	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:44071743A>T	ENST00000272286.2	+	2	251	c.161A>T	c.(160-162)tAc>tTc	p.Y54F		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	54	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.		Y -> C (in dbSNP:rs4148211). {ECO:0000269|PubMed:11099417, ECO:0000269|PubMed:11452359, ECO:0000269|PubMed:11668628, ECO:0000269|PubMed:12111378}.		ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GACCTCAACTACCAGGTAGAG	0.577																																					p.Y54F													.	.			0			c.A161T	GRCh37	CM075964	ABCG8	M	rs4148211							51.0	43.0	46.0					2																	44071743		2203	4300	6503	SO:0001583	missense	64241	exon2			TCAACTACCAGGT	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.161A>T	2.37:g.44071743A>T	ENSP00000272286:p.Tyr54Phe		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	48	0.04	2	NM_022437	0		0	Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	A	24.1	4.494014	0.84962	.	.	ENSG00000143921	ENST00000272286	D	0.88046	-2.33	5.27	4.12	0.48240	ABC transporter-like (1);	0.184905	0.49305	D	0.000154	D	0.88299	0.6399	L	0.36672	1.1	0.58432	D	0.999999	D;D	0.65815	0.995;0.992	D;P	0.64237	0.923;0.84	D	0.87330	0.2324	10	0.52906	T	0.07	.	10.9764	0.47469	0.927:0.0:0.073:0.0	.	54;54	Q9H221-2;Q9H221	.;ABCG8_HUMAN	F	54	ENSP00000272286:Y54F	ENSP00000272286:Y54F	Y	+	2	0	ABCG8	43925247	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.345000	0.65987	0.856000	0.35383	0.523000	0.50628	TAC			0.577	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250671.1		NM_022437	
SMPD4	55627	ucsc.edu	37	2	130910188	130910188	+	Silent	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:130910188A>G	ENST00000409031.1	-	20	3689	c.2541T>C	c.(2539-2541)taT>taC	p.Y847Y	SMPD4_ENST00000443958.2_Silent_p.Y511Y|SMPD4_ENST00000339679.7_Silent_p.Y705Y|SMPD4_ENST00000431183.2_Silent_p.Y745Y|SMPD4_ENST00000452225.2_Silent_p.Y588Y|SMPD4_ENST00000351288.6_Silent_p.Y818Y|SMPD4_ENST00000426662.2_Silent_p.Y483Y|SMPD4_ENST00000453750.1_Silent_p.Y596Y	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	808					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	CGTAGAGGACATAGCCCAGGG	0.642																																					p.Y847Y													.	SMPD4	67		0			c.T2541C												29.0	28.0	29.0					2																	130910188		2153	4238	6391	SO:0001819	synonymous_variant	55627	exon20			GAGGACATAGCCC	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000409031.1:c.2541T>C	2.37:g.130910188A>G			Somatic	86	0	0		RNA-Seq	Illumina HiSeq		107	0.02	2	NM_017951	393	0.11	42	B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Silent	SNP	ENST00000409031.1	37	CCDS42751.1	.	.	.	.	.	.	.	.	.	.	.	0.099	-1.154481	0.01700	.	.	ENSG00000136699	ENST00000439886	.	.	.	4.08	1.12	0.20585	.	.	.	.	.	T	0.59155	0.2173	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	T	0.51973	-0.8637	4	.	.	.	.	11.1425	0.48411	0.1874:0.0:0.8126:0.0	.	.	.	.	T	722	.	.	M	-	2	0	SMPD4	130626658	0.114000	0.22134	0.304000	0.25085	0.051000	0.14879	-0.293000	0.08320	-0.101000	0.12219	-1.816000	0.00601	ATG			0.642	SMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000254516.3	rescued with RNA-seq	NM_017751	
ITGA4	3676	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	182358131	182358131	+	Silent	SNP	G	G	A	rs368002151		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr2:182358131G>A	ENST00000397033.2	+	11	1663	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	411					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	ATGGGATCTCGTCAACCTTCT	0.368																																					p.S411S													.	.			0			c.G1233A							G		0,3752		0,0,1876	105.0	99.0	101.0		1233	-11.7	0.0	2		101	1,8197		0,1,4098	no	coding-synonymous	ITGA4	NM_000885.4		0,1,5974	AA,AG,GG		0.0122,0.0,0.0084		411/1033	182358131	1,11949	1876	4099	5975	SO:0001819	synonymous_variant	3676	exon11			GATCTCGTCAACC		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1233G>A	2.37:g.182358131G>A			Somatic	98	0	0		WXS	Illumina HiSeq	.	90	0.13	12	NM_000885	20	0.00	0	D3DPG4|Q7Z4L6	Silent	SNP	ENST00000397033.2	37	CCDS42788.1																																																																																					0.368	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000334427.1			
ADRA1D	146	mdanderson.org	37	20	4202383	4202383	+	Silent	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr20:4202383C>T	ENST00000379453.4	-	2	1622	c.1506G>A	c.(1504-1506)ccG>ccA	p.P502P		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	502				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTCTCCGGAACGGCCCCAGCA	0.736																																					p.P502P													.	.			0			c.G1506A												6.0	8.0	7.0					20																	4202383		1981	3981	5962	SO:0001819	synonymous_variant	146	exon2			CCGGAACGGCCCC	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1506G>A	20.37:g.4202383C>T			Somatic	30	0	0		WXS	Illumina HiSeq	Phase_I	22	0.09	2	NM_000678	0		0	Q9NPY0	Silent	SNP	ENST00000379453.4	37	CCDS13079.1																																																																																					0.736	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000077812.2		NM_000678	
JPH2	57158	mdanderson.org	37	20	42788659	42788659	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr20:42788659G>T	ENST00000372980.3	-	2	1640	c.768C>A	c.(766-768)ggC>ggA	p.G256G		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	256					calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport into cytosol (GO:0060402)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle tissue development (GO:0055024)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	calcium-release channel activity (GO:0015278)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGTCGCTGGCGCCCGAGCTGA	0.731																																					p.G256G													.	.			0			c.C768A												10.0	12.0	11.0					20																	42788659		2141	4138	6279	SO:0001819	synonymous_variant	57158	exon2			GCTGGCGCCCGAG	AL034419	CCDS13325.1, CCDS13326.1	20q12-q13.11	2014-09-17			ENSG00000149596	ENSG00000149596			14202	protein-coding gene	gene with protein product		605267				10891348, 10949023	Standard	XM_006723832		Approved	JP-2	uc002xli.1	Q9BR39	OTTHUMG00000033037	ENST00000372980.3:c.768C>A	20.37:g.42788659G>T			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	23	0.13	3	NM_020433	0		0	E1P5X1|O95913|Q5JY74|Q9UJN4	Silent	SNP	ENST00000372980.3	37	CCDS13325.1																																																																																					0.731	JPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080307.1			
RBBP8NL	140893	mdanderson.org	37	20	60988512	60988512	+	Silent	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr20:60988512A>G	ENST00000252998.1	-	11	1776	c.1620T>C	c.(1618-1620)ccT>ccC	p.P540P		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	540	Pro-rich.					extracellular space (GO:0005615)											GTGGGTGGGGAGGTGGCAGAG	0.662																																					p.P540P													.	.			0			c.T1620C												28.0	29.0	28.0					20																	60988512		2191	4298	6489	SO:0001819	synonymous_variant	140893	exon11			GTGGGGAGGTGGC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1620T>C	20.37:g.60988512A>G			Somatic	38	0	0		WXS	Illumina HiSeq	Phase_I	22	0.14	3	NM_080833	0		0	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	ENST00000252998.1	37	CCDS13498.1																																																																																					0.662	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000080029.1		NM_080833	
TRMT2A	27037	mdanderson.org	37	22	20102547	20102547	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr22:20102547G>T	ENST00000252136.7	-	5	1334	c.946C>A	c.(946-948)Ctg>Atg	p.L316M	TRMT2A_ENST00000439169.2_Missense_Mutation_p.L316M|RANBP1_ENST00000430524.1_5'Flank|TRMT2A_ENST00000404751.3_Missense_Mutation_p.L316M|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.L316M|TRMT2A_ENST00000492988.1_5'UTR	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	316					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CGCACAGTCAGCTGCTTCCAG	0.647																																					p.L316M													.	.			0			c.C946A												44.0	41.0	42.0					22																	20102547		2194	4293	6487	SO:0001583	missense	27037	exon5			CAGTCAGCTGCTT	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.946C>A	22.37:g.20102547G>T	ENSP00000252136:p.Leu316Met		Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_001257994	69	0.00	0	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.723049	0.68959	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169	T;T;T	0.61392	0.14;0.14;0.11	5.12	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.64972	0.2647	M	0.85373	2.75	0.58432	D	0.999999	P;P;B	0.45672	0.641;0.864;0.33	B;P;B	0.45753	0.405;0.492;0.289	T	0.69397	-0.5156	10	0.72032	D	0.01	-24.7773	11.33	0.49470	0.15:0.0:0.85:0.0	.	316;316;316	F2Z2W7;Q8IZ69-2;Q8IZ69	.;.;TRM2A_HUMAN	M	316	ENSP00000252136:L316M;ENSP00000385807:L316M;ENSP00000395738:L316M	ENSP00000252136:L316M	L	-	1	2	TRMT2A	18482547	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	6.096000	0.71446	0.567000	0.29293	-0.291000	0.09656	CTG			0.647	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318168.3		NM_022727	
TRMT2A	27037	mdanderson.org	37	22	20104077	20104077	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr22:20104077G>T	ENST00000252136.7	-	2	471	c.83C>A	c.(82-84)aCc>aAc	p.T28N	TRMT2A_ENST00000439169.2_Missense_Mutation_p.T28N|RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000404751.3_Missense_Mutation_p.T28N|RANBP1_ENST00000331821.3_5'Flank|RANBP1_ENST00000402752.1_5'Flank|TRMT2A_ENST00000403707.3_Missense_Mutation_p.T28N|TRMT2A_ENST00000492988.1_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	28					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)			breast(2)|endometrium(2)|lung(5)	9						CACCGAGACGGTAGGGCAGCT	0.706																																					p.T28N													.	.			0			c.C83A												21.0	26.0	25.0					22																	20104077		2043	4084	6127	SO:0001583	missense	27037	exon2			GAGACGGTAGGGC	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.83C>A	22.37:g.20104077G>T	ENSP00000252136:p.Thr28Asn		Somatic	42	0	0		WXS	Illumina HiSeq	Phase_I	33	0.09	3	NM_001257994	34	0.00	0	D3DX25|Q32P57|Q96ME6|Q9H732	Missense_Mutation	SNP	ENST00000252136.7	37	CCDS13774.1	.	.	.	.	.	.	.	.	.	.	G	9.779	1.174914	0.21704	.	.	ENSG00000099899	ENST00000252136;ENST00000403707;ENST00000404751;ENST00000439169;ENST00000445045	T;T;T	0.44083	0.93;0.93;0.93	3.14	-1.83	0.07833	.	4.791030	0.01519	U	0.018293	T	0.22003	0.0530	N	0.14661	0.345	0.09310	N	0.99999	B;B;B	0.24963	0.115;0.115;0.115	B;B;B	0.11329	0.006;0.006;0.006	T	0.05007	-1.0912	10	0.18276	T	0.48	-0.0331	3.257	0.06835	0.2902:0.0:0.5185:0.1913	.	28;28;28	B4E213;F2Z2W7;Q8IZ69	.;.;TRM2A_HUMAN	N	28;28;28;28;16	ENSP00000252136:T28N;ENSP00000385807:T28N;ENSP00000395738:T28N	ENSP00000252136:T28N	T	-	2	0	TRMT2A	18484077	0.013000	0.17824	0.000000	0.03702	0.104000	0.19210	0.364000	0.20325	-0.323000	0.08602	0.313000	0.20887	ACC			0.706	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000318168.3		NM_022727	
DEPDC5	9681	mdanderson.org	37	22	32218702	32218702	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr22:32218702G>T	ENST00000382112.3	+	23	2100	c.2030G>T	c.(2029-2031)gGt>gTt	p.G677V	DEPDC5_ENST00000536766.1_Intron|DEPDC5_ENST00000535622.1_Intron|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G677V|DEPDC5_ENST00000382105.2_Intron|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G677V|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G677V|DEPDC5_ENST00000400248.2_Missense_Mutation_p.G677V|DEPDC5_ENST00000400246.1_Missense_Mutation_p.G677V	NM_001136029.2|NM_001242896.1	NP_001129501.1|NP_001229825.1	O75140	DEPD5_HUMAN	DEP domain containing 5	677					intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CGCCAGCCTGGTGACGGCATG	0.527																																					p.G677V													.	.			0			c.G2030T												69.0	68.0	68.0					22																	32218702		1981	4163	6144	SO:0001583	missense	9681	exon24			AGCCTGGTGACGG	AB014545	CCDS43006.1, CCDS43007.1, CCDS46692.1, CCDS56229.1, CCDS74849.1	22q12.3	2013-04-29			ENSG00000100150	ENSG00000100150			18423	protein-coding gene	gene with protein product		614191				23542697, 23542701	Standard	NM_001242896		Approved	KIAA0645, DEP.5	uc011alu.2	O75140	OTTHUMG00000030926	ENST00000382112.3:c.2030G>T	22.37:g.32218702G>T	ENSP00000371546:p.Gly677Val		Somatic	70	0	0		WXS	Illumina HiSeq	Phase_I	48	0.06	3	NM_014662	28	0.00	0	A6H8V6|A8MPX9|B4DH93|B9EGN9|Q5K3V5|Q5THY9|Q5THZ0|Q5THZ1|Q5THZ3|Q68DR1|Q6MZX3|Q6PEZ1|Q9UGV8|Q9UH13	Missense_Mutation	SNP	ENST00000382112.3	37	CCDS46692.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.2|20.2	3.957676|3.957676	0.73902|0.73902	.|.	.|.	ENSG00000100150|ENSG00000100150	ENST00000266091;ENST00000400249;ENST00000400246;ENST00000382112;ENST00000382111;ENST00000400248|ENST00000433147	T;T;T;T;T;T|.	0.24908|.	1.86;1.83;1.83;1.83;1.83;1.83|.	5.37|5.37	4.35|4.35	0.52113|0.52113	.|.	0.050201|.	0.85682|.	D|.	0.000000|.	T|T	0.62539|0.62539	0.2436|0.2436	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.76494|.	0.998;0.999;0.998;0.994|.	P;D;P;P|.	0.66351|.	0.889;0.943;0.852;0.829|.	T|T	0.60954|0.60954	-0.7160|-0.7160	10|5	0.33141|.	T|.	0.24|.	.|.	11.2334|11.2334	0.48925|0.48925	0.0856:0.0:0.9144:0.0|0.0856:0.0:0.9144:0.0	.|.	677;677;677;677|.	B9EGN9;O75140-4;A8MPX9;O75140|.	.;.;.;DEPD5_HUMAN|.	V|C	677|74	ENSP00000266091:G677V;ENSP00000383108:G677V;ENSP00000383105:G677V;ENSP00000371546:G677V;ENSP00000371545:G677V;ENSP00000383107:G677V|.	ENSP00000266091:G677V|.	G|W	+|+	2|3	0|0	DEPDC5|DEPDC5	30548702|30548702	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.996000|0.996000	0.88848|0.88848	3.036000|3.036000	0.49767|0.49767	1.394000|1.394000	0.46624|0.46624	0.591000|0.591000	0.81541|0.81541	GGT|TGG			0.527	DEPDC5-006	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000129087.1		NM_014662	
VILL	50853	mdanderson.org	37	3	38038598	38038598	+	Missense_Mutation	SNP	G	G	T	rs199511941	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:38038598G>T	ENST00000283713.6	+	6	747	c.481G>T	c.(481-483)Ggt>Tgt	p.G161C	VILL_ENST00000383759.2_Missense_Mutation_p.G161C|VILL_ENST00000465644.1_Intron			O15195	VILL_HUMAN	villin-like	161					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTTTAATAAGGGTGACATCTT	0.542											OREG0015474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.G161C													.	.			0			c.G481T												132.0	124.0	127.0					3																	38038598		2203	4300	6503	SO:0001583	missense	50853	exon5			AATAAGGGTGACA		CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.481G>T	3.37:g.38038598G>T	ENSP00000283713:p.Gly161Cys		Somatic	81	0	0	875	WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_015873	1	0.00	0	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	ENST00000283713.6	37	CCDS2670.2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907561	0.52333	.	.	ENSG00000136059	ENST00000283713;ENST00000492491;ENST00000383759;ENST00000356246	T;T;T	0.59906	0.23;0.23;0.23	4.69	-1.12	0.09808	Gelsolin domain (1);	0.494840	0.24864	N	0.034985	T	0.75961	0.3921	M	0.90870	3.155	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67795	-0.5578	10	0.87932	D	0	0.3195	9.1703	0.37076	0.4417:0.0:0.5583:0.0	.	161	O15195	VILL_HUMAN	C	161	ENSP00000283713:G161C;ENSP00000427355:G161C;ENSP00000373266:G161C	ENSP00000283713:G161C	G	+	1	0	VILL	38013602	0.948000	0.32251	0.000000	0.03702	0.965000	0.64279	2.801000	0.47908	-0.497000	0.06641	0.591000	0.81541	GGT			0.542	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253360.3		NM_015873	
NBEAL2	23218	mdanderson.org	37	3	47039154	47039154	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:47039154G>T	ENST00000450053.3	+	20	3107	c.2928G>T	c.(2926-2928)ggG>ggT	p.G976G	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Silent_p.G976G	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	976					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		AGTGCCAGGGGCCTGCCATCA	0.622																																					p.G976G													.	.			0			c.G2928T												18.0	21.0	20.0					3																	47039154		1922	4125	6047	SO:0001819	synonymous_variant	23218	exon20			CCAGGGGCCTGCC	AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.2928G>T	3.37:g.47039154G>T			Somatic	76	0.0131578947	1		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_015175	37	0.00	0	O60288|Q6P994|Q6UX91|Q8NAC9	Silent	SNP	ENST00000450053.3	37	CCDS46817.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403664	0.25291	.	.	ENSG00000160796	ENST00000416683	T	0.70164	-0.46	5.8	0.716	0.18191	.	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61647	-0.7020	7	0.87932	D	0	.	3.4093	0.07352	0.2028:0.1154:0.563:0.1188	.	.	.	.	V	448	ENSP00000410405:G448V	ENSP00000410405:G448V	G	+	2	0	NBEAL2	47014158	0.587000	0.26791	0.986000	0.45419	0.987000	0.75469	-0.238000	0.08977	0.062000	0.16340	0.561000	0.74099	GGC			0.622	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000344363.3		XM_291064	
DHX30	22907	bcgsc.ca	37	3	47887257	47887257	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:47887257G>T	ENST00000445061.1	+	10	1414	c.1007G>T	c.(1006-1008)cGt>cTt	p.R336L	DHX30_ENST00000457607.1_Missense_Mutation_p.R364L|DHX30_ENST00000446256.2_Missense_Mutation_p.R297L|DHX30_ENST00000348968.4_Missense_Mutation_p.R308L	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	336						cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCCTCTTTGCGTGAGCTGGGT	0.587																																					p.R336L													.	DHX30	101		0			c.G1007T												111.0	97.0	102.0					3																	47887257		2203	4300	6503	SO:0001583	missense	22907	exon10			CTTTGCGTGAGCT	AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.1007G>T	3.37:g.47887257G>T	ENSP00000405620:p.Arg336Leu		Somatic	112	0	0		WXS	Illumina HiSeq	Phase_1	51	0.08	4	NM_138615	183	0.00	0	A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Missense_Mutation	SNP	ENST00000445061.1	37	CCDS2759.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577686	0.65878	.	.	ENSG00000132153	ENST00000446256;ENST00000445061;ENST00000348968;ENST00000457607	T;T;T;T	0.03772	3.84;3.83;3.84;3.81	5.38	4.5	0.54988	.	0.257927	0.39475	N	0.001356	T	0.04861	0.0131	L	0.40543	1.245	0.48341	D	0.999634	B;P	0.38455	0.307;0.632	B;B	0.35931	0.049;0.214	T	0.34403	-0.9830	10	0.52906	T	0.07	.	8.9981	0.36066	0.1622:0.0:0.8378:0.0	.	336;297	Q7L2E3;Q7L2E3-3	DHX30_HUMAN;.	L	297;336;308;364	ENSP00000392601:R297L;ENSP00000405620:R336L;ENSP00000343442:R308L;ENSP00000394682:R364L	ENSP00000343442:R308L	R	+	2	0	DHX30	47862261	1.000000	0.71417	0.984000	0.44739	0.989000	0.77384	3.491000	0.53252	2.527000	0.85204	0.655000	0.94253	CGT			0.587	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000257495.2		NM_138615	
ERICH6	131831	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	150396273	150396273	+	Missense_Mutation	SNP	C	C	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr3:150396273C>A	ENST00000295910.6	-	10	1232	c.1180G>T	c.(1180-1182)Gac>Tac	p.D394Y	FAM194A_ENST00000491361.1_Missense_Mutation_p.D248Y	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						AATACAATGTCATCAATTATC	0.294																																					p.D394Y													.	.			0			c.G1180T												74.0	69.0	71.0					3																	150396273		2201	4290	6491	SO:0001583	missense	131831	exon10			CAATGTCATCAAT																												ENST00000295910.6:c.1180G>T	3.37:g.150396273C>A	ENSP00000295910:p.Asp394Tyr		Somatic	261	0	0		WXS	Illumina HiSeq	.	377	0.13	49	NM_152394	0		0		Missense_Mutation	SNP	ENST00000295910.6	37	CCDS3151.2	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833759	0.32421	.	.	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.15487	2.64;2.42	3.85	2.03	0.26663	.	1.079770	0.07264	N	0.867996	T	0.22820	0.0551	L	0.51422	1.61	0.09310	N	1	P	0.49447	0.924	P	0.47941	0.562	T	0.20306	-1.0279	10	0.72032	D	0.01	-0.7828	7.2793	0.26302	0.0:0.7822:0.0:0.2178	.	394	Q7L0X2	F194A_HUMAN	Y	394;248;352	ENSP00000295910:D394Y;ENSP00000419366:D248Y	ENSP00000295910:D394Y	D	-	1	0	FAM194A	151878963	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.221000	0.17680	0.398000	0.25338	0.557000	0.71058	GAC			0.294	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257666.1			
OTUD4	54726	broad.mit.edu	37	4	146059041	146059041	+	Silent	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr4:146059041A>G	ENST00000447906.2	-	21	3073	c.2886T>C	c.(2884-2886)caT>caC	p.H962H	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000454497.2_Silent_p.H897H			Q01804	OTUD4_HUMAN	OTU deubiquitinase 4	962					protein K48-linked deubiquitination (GO:0071108)		poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					GAGTGGGAGGATGAGCCTTTC	0.478																																					p.H897H													OTUD4,bladder,carcinoma,0,2	OTUD4	120	2	0			c.T2691C												118.0	118.0	118.0					4																	146059041		2203	4300	6503	SO:0001819	synonymous_variant	54726	exon21			GGGAGGATGAGCC		CCDS3764.1, CCDS47139.1	4q31.21	2014-02-24	2014-02-24		ENSG00000164164	ENSG00000164164		"""OTU domain containing"""	24949	protein-coding gene	gene with protein product		611744	"""OTU domain containing 4"""			1475186, 12727813, 19996094	Standard	NM_001102653		Approved	HSHIN1, KIAA1046, DUBA6	uc003ika.4	Q01804	OTTHUMG00000161480	ENST00000447906.2:c.2886T>C	4.37:g.146059041A>G			Somatic	126	0.0158730159	2		WXS	Illumina HiSeq	Phase_I	82	0.06	5	NM_001102653	112	0.00	0	B4DYS4|Q147U2|Q1ZYK1|Q6PG39|Q96MQ5|Q9NT94|Q9UPV6	Silent	SNP	ENST00000447906.2	37																																																																																						0.478	OTUD4-004	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000365117.2		NM_017493	
ZNF827	152485	mdanderson.org	37	4	146823705	146823705	+	Nonsense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr4:146823705G>A	ENST00000508784.1	-	2	933	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.R236*			Q17R98	ZN827_HUMAN	zinc finger protein 827	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GACTCAAATCGCATGGTCTCC	0.512																																					p.R236X													ZNF827,NS,carcinoma,+1,4	ZNF827	1	4	0			c.C706T												75.0	70.0	72.0					4																	146823705		2203	4300	6503	SO:0001587	stop_gained	152485	exon2			CAAATCGCATGGT	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.706C>T	4.37:g.146823705G>A	ENSP00000421863:p.Arg236*		Somatic	48	0	0		WXS	Illumina HiSeq	Phase_I	32	0.09	3	NM_178835	5	0.00	0	B7ZL52|Q7Z4S7|Q8N279	Nonsense_Mutation	SNP	ENST00000508784.1	37		.	.	.	.	.	.	.	.	.	.	G	38	7.202182	0.98132	.	.	ENSG00000151612	ENST00000508784;ENST00000379448;ENST00000281318	.	.	.	5.84	4.97	0.65823	.	0.052511	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0362	14.352	0.66708	0.0:0.0:0.563:0.437	.	.	.	.	X	236;236;235	.	ENSP00000281318:R235X	R	-	1	2	ZNF827	147043155	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.009000	0.49552	1.415000	0.47037	0.561000	0.74099	CGA			0.512	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		OTTHUMT00000364654.2		NM_178835	
PPWD1	23398	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	64867809	64867809	+	Missense_Mutation	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:64867809A>G	ENST00000261308.5	+	5	737	c.665A>G	c.(664-666)cAt>cGt	p.H222R	PPWD1_ENST00000538977.1_Missense_Mutation_p.H66R|PPWD1_ENST00000535264.1_Missense_Mutation_p.H192R	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	222					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		GACAAACTCCATACATCACCT	0.413																																					p.H222R													.	.			0			c.A665G												103.0	109.0	107.0					5																	64867809		2203	4300	6503	SO:0001583	missense	23398	exon5			AACTCCATACATC	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	ENST00000261308.5:c.665A>G	5.37:g.64867809A>G	ENSP00000261308:p.His222Arg		Somatic	186	0	0		WXS	Illumina HiSeq	.	195	0.35	68	NM_015342	133	0.59	79	B4DWR9|Q15002|Q7KZ89	Missense_Mutation	SNP	ENST00000261308.5	37	CCDS3985.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.451104	0.84209	.	.	ENSG00000113593	ENST00000261308;ENST00000535264;ENST00000538977;ENST00000505380	T;T;T;T	0.70045	-0.45;-0.45;4.58;-0.45	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.92122	3.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.89477	0.3747	10	0.87932	D	0	.	16.1984	0.82046	1.0:0.0:0.0:0.0	.	192;222	F5H7P7;Q96BP3	.;PPWD1_HUMAN	R	222;192;66;141	ENSP00000261308:H222R;ENSP00000442371:H192R;ENSP00000444496:H66R;ENSP00000423234:H141R	ENSP00000261308:H222R	H	+	2	0	PPWD1	64903565	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.266000	0.95659	2.223000	0.72356	0.402000	0.26972	CAT			0.413	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253970.2		NM_015342	
SGTB	54557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	65004355	65004355	+	Missense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:65004355G>A	ENST00000381007.4	-	4	470	c.235C>T	c.(235-237)Cct>Tct	p.P79S		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	79								p.P79S(1)		large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		ACATCTTCAGGCACTGAGTTT	0.333																																					p.P79S													SGTB,trunk,malignant_melanoma,0,1	SGTB	0	1	1	Substitution - Missense(1)	skin(1)	c.C235T												112.0	111.0	111.0					5																	65004355		2203	4300	6503	SO:0001583	missense	54557	exon4			CTTCAGGCACTGA	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.235C>T	5.37:g.65004355G>A	ENSP00000370395:p.Pro79Ser		Somatic	100	0	0		WXS	Illumina HiSeq	.	72	0.42	30	NM_019072	39	0.51	20		Missense_Mutation	SNP	ENST00000381007.4	37	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.683948	0.47991	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.64085	-0.08;0.0	5.17	3.31	0.37934	.	2.715780	0.01611	N	0.022554	T	0.55768	0.1941	L	0.34521	1.04	0.58432	D	0.999999	B	0.11235	0.004	B	0.17098	0.017	T	0.06698	-1.0812	10	0.21540	T	0.41	-3.849	11.17	0.48567	0.0:0.1391:0.7165:0.1445	.	79	Q96EQ0	SGTB_HUMAN	S	79	ENSP00000370395:P79S;ENSP00000421447:P79S	ENSP00000370395:P79S	P	-	1	0	SGTB	65040111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.812000	0.62613	0.642000	0.30620	0.558000	0.71614	CCT			0.333	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000215057.2		NM_019072	
C5orf56	441108	mdanderson.org	37	5	131811383	131811383	+	Missense_Mutation	SNP	G	G	C			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:131811383G>C	ENST00000378953.4	+	4	589	c.113G>C	c.(112-114)cGg>cCg	p.R38P	AC116366.6_ENST00000443093.2_RNA|C5orf56_ENST00000464024.1_3'UTR			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	0										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						CTGCACAGCCGGGCCTTTGGA	0.562																																					.													.	.			0			.																																									SO:0001583	missense	441108	.			ACAGCCGGGCCTT	BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000378953.4:c.113G>C	5.37:g.131811383G>C	ENSP00000368236:p.Arg38Pro		Somatic	67	0	0		WXS	Illumina HiSeq	Phase_I	40	0.08	3	.	25	0.00	0	A1L3V9|A6NKA0	RNA	SNP	ENST00000378953.4	37		.	.	.	.	.	.	.	.	.	.	G	7.646	0.681890	0.14907	.	.	ENSG00000197536	ENST00000378953	.	.	.	4.25	-7.83	0.01201	.	.	.	.	.	T	0.34978	0.0916	.	.	.	0.09310	N	0.999999	P	0.35575	0.51	B	0.38880	0.284	T	0.42916	-0.9423	7	0.56958	D	0.05	.	14.4854	0.67614	0.8023:0.0:0.1977:0.0	.	38	Q8N8D9-2	.	P	38	.	ENSP00000368236:R38P	R	+	2	0	C5orf56	131839282	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.278000	0.02809	-1.828000	0.01202	-0.302000	0.09304	CGG			0.562	C5orf56-002	NOVEL	basic|appris_candidate	protein_coding	protein_coding		OTTHUMT00000132330.3		NM_001013717	
FBXW11	23291	mdanderson.org	37	5	171303295	171303295	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr5:171303295G>T	ENST00000265094.5	-	8	1289	c.1152C>A	c.(1150-1152)acC>acA	p.T384T	FBXW11_ENST00000296933.6_Silent_p.T371T|FBXW11_ENST00000522891.1_5'Flank|FBXW11_ENST00000393802.2_Silent_p.T350T|FBXW11_ENST00000425623.2_Silent_p.T352T	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	384					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTACTTTGATGGTCCTGTCAC	0.507																																					p.T384T													.	.			0			c.C1152A												90.0	77.0	82.0					5																	171303295		2203	4300	6503	SO:0001819	synonymous_variant	23291	exon8			TTTGATGGTCCTG	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.1152C>A	5.37:g.171303295G>T			Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_012300	95	0.00	0	B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Silent	SNP	ENST00000265094.5	37	CCDS34289.1																																																																																					0.507	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000372382.1		NM_012300	
PPT2	9374	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	6	32123529	32123533	+	Frame_Shift_Del	DEL	CCTCT	CCTCT	-			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	CCTCT	CCTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:32123529_32123533delCCTCT	ENST00000324816.6	+	4	970_974	c.402_406delCCTCT	c.(400-408)tccctctccfs	p.SLS134fs	PPT2_ENST00000395523.1_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000375143.2_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000445576.2_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000437001.2_Frame_Shift_Del_p.SLS11fs|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000361568.2_Frame_Shift_Del_p.SLS140fs|PPT2_ENST00000493548.1_Intron|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2-EGFL8_ENST00000422437.1_Frame_Shift_Del_p.SLS134fs|PPT2_ENST00000375137.2_Frame_Shift_Del_p.SLS134fs			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	134					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						CTTTCATCTCCCTCTCCTCTCCACA	0.517																																					p.140_141del													.	PPT2	19		0			c.419_423del																																									SO:0001589	frameshift_variant	9374	exon4			CATCTCCCTCTCC	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.402_406delCCTCT	6.37:g.32123534_32123538delCCTCT	ENSP00000320528:p.Ser134fs		Somatic	187	0	0		WXS	Illumina HiSeq	.	145	0.14	20	NM_138717	89	0.00	0	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Frame_Shift_Del	DEL	ENST00000324816.6	37	CCDS4742.1																																																																																					0.517	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076552.4		NM_138717	
RNF8	9025	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	37336599	37336599	+	Missense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:37336599G>A	ENST00000373479.4	+	3	773	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.E194K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	194					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|histone exchange (GO:0043486)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A ubiquitination (GO:0033522)|histone H2B ubiquitination (GO:0033523)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|mitotic nuclear division (GO:0007067)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|response to ionizing radiation (GO:0010212)|spermatid development (GO:0007286)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome, telomeric region (GO:0000781)|nucleolus (GO:0005730)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGGGAAAGGTGAAGTGGCCAG	0.478																																					p.E194K													.	.			0			c.G580A												80.0	80.0	80.0					6																	37336599		2203	4300	6503	SO:0001583	missense	9025	exon3			AAAGGTGAAGTGG	AB012770	CCDS4833.1, CCDS4834.1	6p21.3	2013-01-09	2012-02-23		ENSG00000112130	ENSG00000112130		"""RING-type (C3HC4) zinc fingers"""	10071	protein-coding gene	gene with protein product		611685	"""ring finger protein (C3HC4 type) 8"", ""ring finger protein 8"""			9734811, 9852682	Standard	NM_003958		Approved	KIAA0646	uc003onq.4	O76064	OTTHUMG00000014620	ENST00000373479.4:c.580G>A	6.37:g.37336599G>A	ENSP00000362578:p.Glu194Lys		Somatic	141	0	0		WXS	Illumina HiSeq	.	121	0.21	25	NM_003958	91	0.38	35	A6NN24|A8MYC0|B4DPG0|Q53H16|Q5NKW5	Missense_Mutation	SNP	ENST00000373479.4	37	CCDS4834.1	.	.	.	.	.	.	.	.	.	.	G	7.850	0.723868	0.15439	.	.	ENSG00000112130	ENST00000373479;ENST00000487950;ENST00000469731	D;T;T	0.82619	-1.63;0.89;0.89	6.07	2.13	0.27403	.	0.852993	0.10267	N	0.695207	T	0.49236	0.1545	L	0.33485	1.01	0.09310	N	0.999999	B;B	0.13145	0.007;0.002	B;B	0.11329	0.006;0.003	T	0.38993	-0.9635	10	0.08179	T	0.78	-1.2667	7.4434	0.27196	0.2027:0.1209:0.6763:0.0	.	137;194	C9J858;O76064	.;RNF8_HUMAN	K	194;137;194	ENSP00000362578:E194K;ENSP00000417736:E137K;ENSP00000418879:E194K	ENSP00000362578:E194K	E	+	1	0	RNF8	37444577	0.006000	0.16342	0.023000	0.16930	0.057000	0.15508	1.481000	0.35476	0.441000	0.26529	0.655000	0.94253	GAA			0.478	RNF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040403.2			
C6orf141	135398	broad.mit.edu	37	6	49519197	49519197	+	Missense_Mutation	SNP	T	T	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:49519197T>G	ENST00000529246.2	+	1	1085	c.692T>G	c.(691-693)gTt>gGt	p.V231G	C6orf141_ENST00000424426.1_Intron	NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	231										breast(1)|prostate(1)	2						GGGAGGAGGGTTTCACCGTCT	0.577																																					p.V231G													.	C6orf141	7		0			c.T692G												7.0	7.0	7.0					6																	49519197		686	1584	2270	SO:0001583	missense	135398	exon1			GGAGGGTTTCACC	AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.692T>G	6.37:g.49519197T>G	ENSP00000434602:p.Val231Gly		Somatic	84	0.0952380952	8		WXS	Illumina HiSeq	Phase_I	97	0.14	14	NM_001145652	0		0	A8K1H4|Q8N400|Q96NQ1	Missense_Mutation	SNP	ENST00000529246.2	37	CCDS55018.1	.	.	.	.	.	.	.	.	.	.	T	11.66	1.705308	0.30232	.	.	ENSG00000197261	ENST00000529246	T	0.37915	1.17	4.08	-8.16	0.01061	.	.	.	.	.	T	0.03915	0.0110	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31503	-0.9941	9	0.72032	D	0.01	.	0.7691	0.01020	0.2444:0.186:0.3485:0.2211	.	231	Q5SZD1	CF141_HUMAN	G	231	ENSP00000434602:V231G	ENSP00000431184:V231G	V	+	2	0	C6orf141	49627156	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.824000	0.04438	-1.980000	0.00990	-0.490000	0.04691	GTT			0.577	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000390228.1		NM_153344	
MCM3	4172	mdanderson.org	37	6	52141891	52141891	+	Missense_Mutation	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:52141891G>A	ENST00000229854.7	-	8	1215	c.1139C>T	c.(1138-1140)gCt>gTt	p.A380V	MCM3_ENST00000596288.1_Missense_Mutation_p.A425V|MCM3_ENST00000476448.1_5'UTR|MCM3_ENST00000419835.2_Missense_Mutation_p.A334V			P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	380	MCM.				DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	alpha DNA polymerase:primase complex (GO:0005658)|centrosome (GO:0005813)|intracellular membrane-bounded organelle (GO:0043231)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGTGACAGCAGCCGTCAGACC	0.592																																					p.A425V													.	.			0			c.C1274T												71.0	70.0	71.0					6																	52141891		2203	4300	6503	SO:0001583	missense	4172	exon8			ACAGCAGCCGTCA	X62153	CCDS4940.1, CCDS4940.2, CCDS75468.1	6p12	2008-02-05	2007-04-04		ENSG00000112118	ENSG00000112118			6945	protein-coding gene	gene with protein product		602693	"""minichromosome maintenance deficient (S. cerevisiae) 3"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae)"""			1549468	Standard	NM_002388		Approved		uc011dwu.2	P25205	OTTHUMG00000014844	ENST00000229854.7:c.1139C>T	6.37:g.52141891G>A	ENSP00000229854:p.Ala380Val		Somatic	55	0	0		WXS	Illumina HiSeq	Phase_I	28	0.11	3	NM_002388	214	0.00	0	B4DWW4|Q92660|Q9BTR3|Q9NUE7	Missense_Mutation	SNP	ENST00000229854.7	37		.	.	.	.	.	.	.	.	.	.	G	36	5.782682	0.96937	.	.	ENSG00000112118	ENST00000229854;ENST00000419835	T;T	0.11930	2.73;2.73	5.36	5.36	0.76844	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	M	0.85710	2.77	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.33803	-0.9854	10	0.87932	D	0	-18.6456	19.2924	0.94105	0.0:0.0:1.0:0.0	.	334;380	B4DUQ9;P25205	.;MCM3_HUMAN	V	380;334	ENSP00000229854:A380V;ENSP00000388647:A334V	ENSP00000229854:A380V	A	-	2	0	MCM3	52249850	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.657000	0.98554	2.783000	0.95769	0.655000	0.94253	GCT			0.592	MCM3-006	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000470784.1			
KIAA1586	57691	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	56919177	56919177	+	Missense_Mutation	SNP	T	T	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:56919177T>A	ENST00000370733.4	+	4	2087	c.1880T>A	c.(1879-1881)aTt>aAt	p.I627N	KIAA1586_ENST00000545356.1_Missense_Mutation_p.I600N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	627							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CATGAAGATATTTTTAATTAC	0.313																																					p.I627N													.	.			0			c.T1880A												46.0	52.0	50.0					6																	56919177		2183	4269	6452	SO:0001583	missense	57691	exon4			AAGATATTTTTAA	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.1880T>A	6.37:g.56919177T>A	ENSP00000359768:p.Ile627Asn		Somatic	237	0	0		WXS	Illumina HiSeq	.	202	0.18	37	NM_020931	17	0.29	5	A8K4M3|Q8IW25	Missense_Mutation	SNP	ENST00000370733.4	37	CCDS34480.1	.	.	.	.	.	.	.	.	.	.	t	8.412	0.844437	0.16963	.	.	ENSG00000168116	ENST00000370733;ENST00000545356	T;T	0.23348	1.91;1.91	3.35	3.35	0.38373	Ribonuclease H-like (1);	.	.	.	.	T	0.13329	0.0323	N	0.08118	0	0.24253	N	0.99531	D;D	0.71674	0.998;0.997	D;D	0.66351	0.943;0.918	T	0.09796	-1.0658	9	0.46703	T	0.11	.	8.3236	0.32142	0.0:0.0:0.0:1.0	.	600;627	F5H2N6;Q9HCI6	.;K1586_HUMAN	N	627;600	ENSP00000359768:I627N;ENSP00000445507:I600N	ENSP00000359768:I627N	I	+	2	0	KIAA1586	57027136	0.926000	0.31397	0.615000	0.29064	0.625000	0.37756	0.221000	0.17680	1.524000	0.49035	0.528000	0.53228	ATT			0.313	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000041033.1		NM_020931	
EYS	346007	mdanderson.org	37	6	65016865	65016865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:65016865G>T	ENST00000370621.3	-	30	6715	c.6189C>A	c.(6187-6189)tgC>tgA	p.C2063*	EYS_ENST00000370616.2_Nonsense_Mutation_p.C2063*|EYS_ENST00000503581.1_Nonsense_Mutation_p.C2063*			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2063	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TATTTTACCTGCAATTGTTAA	0.313																																					p.C2063X													.	.			0			c.C6189A												204.0	163.0	175.0					6																	65016865		692	1590	2282	SO:0001587	stop_gained	346007	exon30			TTACCTGCAATTG		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.6189C>A	6.37:g.65016865G>T	ENSP00000359655:p.Cys2063*		Somatic	58	0	0		WXS	Illumina HiSeq	Phase_I	39	0.08	3	NM_001142800	0		0	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Nonsense_Mutation	SNP	ENST00000370621.3	37		.	.	.	.	.	.	.	.	.	.	G	44	10.534306	0.99423	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	.	.	.	5.2	3.43	0.39272	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.0506	0.36374	0.173:0.0:0.827:0.0	.	.	.	.	X	2063	.	ENSP00000359650:C2063X	C	-	3	2	EYS	65074824	1.000000	0.71417	0.860000	0.33809	0.107000	0.19398	3.746000	0.55127	0.594000	0.29761	0.655000	0.94253	TGC			0.313	EYS-001	KNOWN	basic	protein_coding	protein_coding		OTTHUMT00000351351.3		XM_294050	
HECA	51696	mdanderson.org	37	6	139487973	139487973	+	Missense_Mutation	SNP	C	C	T	rs548239720		TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr6:139487973C>T	ENST00000367658.2	+	2	1109	c.824C>T	c.(823-825)aCg>aTg	p.T275M	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	275					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCCCACCCACGGGCTACTCC	0.657													C|||	1	0.000199681	0.0008	0.0	5008	,	,		13660	0.0		0.0	False		,,,				2504	0.0				p.T275M													.	.			0			c.C824T												15.0	18.0	17.0					6																	139487973		2201	4298	6499	SO:0001583	missense	51696	exon2			CACCCACGGGCTA	AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.824C>T	6.37:g.139487973C>T	ENSP00000356630:p.Thr275Met		Somatic	57	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_016217	40	0.00	0		Missense_Mutation	SNP	ENST00000367658.2	37	CCDS5194.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702418	0.48307	.	.	ENSG00000112406	ENST00000367658	.	.	.	5.07	5.07	0.68467	.	0.327838	0.36972	N	0.002304	T	0.38161	0.1030	N	0.08118	0	0.47584	D	0.999463	D	0.63046	0.992	P	0.53861	0.736	T	0.50996	-0.8761	9	0.59425	D	0.04	.	18.6449	0.91407	0.0:1.0:0.0:0.0	.	275	Q9UBI9	HDC_HUMAN	M	275	.	ENSP00000356630:T275M	T	+	2	0	HECA	139529666	0.219000	0.23619	0.951000	0.38953	0.407000	0.30961	4.447000	0.60020	2.642000	0.89623	0.563000	0.77884	ACG			0.657	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000042456.1		NM_016217	
RSPH10B	222967	broad.mit.edu	37	7	5983086	5983086	+	Nonsense_Mutation	SNP	G	G	A	rs142698648	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:5983086G>A	ENST00000405415.1	-	14	2013	c.1627C>T	c.(1627-1629)Caa>Taa	p.Q543*	RSPH10B_ENST00000441023.2_Nonsense_Mutation_p.Q543*|RSPH10B_ENST00000539903.1_3'UTR|RSPH10B_ENST00000535104.1_5'UTR|RSPH10B_ENST00000404406.1_Nonsense_Mutation_p.Q543*|RSPH10B_ENST00000337579.3_Nonsense_Mutation_p.Q543*			P0C881	R10B1_HUMAN	radial spoke head 10 homolog B (Chlamydomonas)	543										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		GTCCGCTGTTGCTCACGGAAT	0.398													G|||	19	0.00379393	0.0144	0.0	5008	,	,		24415	0.0		0.0	False		,,,				2504	0.0				p.Q543X													.	RSPH10B	28		0			c.C1627T							G	stop/GLN	58,4226		1,56,2085	27.0	28.0	28.0		1627	1.4	0.0	7	dbSNP_134	28	0,8542		0,0,4271	no	stop-gained	RSPH10B	NM_173565.3		1,56,6356	AA,AG,GG		0.0,1.3539,0.4522		543/871	5983086	58,12768	2142	4271	6413	SO:0001587	stop_gained	222967	exon15			GCTGTTGCTCACG		CCDS34598.1	7p22.2	2008-07-04			ENSG00000155026	ENSG00000155026			27362	protein-coding gene	gene with protein product						16507594	Standard	NM_173565		Approved		uc003sph.1	P0C881	OTTHUMG00000152378	ENST00000405415.1:c.1627C>T	7.37:g.5983086G>A	ENSP00000385443:p.Gln543*		Somatic	1154	0.0017331023	2		WXS	Illumina HiSeq	Phase_I	1410	0.07	98	NM_173565	12	0.00	0	A6NMW7|Q86ST9|Q8NE68	Nonsense_Mutation	SNP	ENST00000405415.1	37	CCDS34598.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205747	0.58234	0.013539	0.0	ENSG00000155026	ENST00000405415;ENST00000404406;ENST00000337579;ENST00000354951;ENST00000441023	.	.	.	3.38	1.42	0.22433	.	1.618190	0.04540	N	0.387935	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	12.4148	0.55488	0.0:0.5422:0.4578:0.0	.	.	.	.	X	543;543;543;402;543	.	ENSP00000338556:Q543X	Q	-	1	0	RSPH10B	5949612	0.384000	0.25164	0.041000	0.18516	0.118000	0.20060	1.390000	0.34464	0.205000	0.20568	0.551000	0.68910	CAA			0.398	RSPH10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000325465.2		NM_173565	
SLC12A9	56996	ucsc.edu;bcgsc.ca	37	7	100458762	100458762	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:100458762G>T	ENST00000354161.3	+	10	1346	c.1221G>T	c.(1219-1221)ctG>ctT	p.L407L	SLC12A9_ENST00000415287.1_Silent_p.L318L|SLC12A9_ENST00000428758.1_Silent_p.L407L|SLC12A9_ENST00000275729.3_Silent_p.L318L|SLC12A9_ENST00000540482.1_Silent_p.L407L	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	407					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TTGCCCAGCTGGTGCTCCTGG	0.587																																					p.L407L													.	SLC12A9	81		0			c.G1221T												110.0	95.0	100.0					7																	100458762		2203	4300	6503	SO:0001819	synonymous_variant	56996	exon10			CCAGCTGGTGCTC	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1221G>T	7.37:g.100458762G>T			Somatic	72	0	0		WXS	Illumina HiSeq		39	0.10	4	NM_001267812	44	0.00	0	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	CCDS5707.1																																																																																					0.587	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000342837.1		NM_020246	
PLXNA4	91584	broad.mit.edu	37	7	131817901	131817901	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:131817901G>T	ENST00000359827.3	-	31	6458	c.5496C>A	c.(5494-5496)taC>taA	p.Y1832*	PLXNA4_ENST00000321063.4_Nonsense_Mutation_p.Y1832*			Q9HCM2	PLXA4_HUMAN	plexin A4	1832					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTCAGCCAGGTATGCGTTCA	0.502																																					p.Y1832X													.	PLXNA4	873		0			c.C5496A												146.0	148.0	147.0					7																	131817901		2198	4300	6498	SO:0001587	stop_gained	91584	exon31			AGCCAGGTATGCG	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.5496C>A	7.37:g.131817901G>T	ENSP00000352882:p.Tyr1832*		Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	59	0.05	3	NM_020911	2	0.00	0	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Nonsense_Mutation	SNP	ENST00000359827.3	37	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	G	46	12.669412	0.99687	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	.	.	.	5.24	4.37	0.52481	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.098	0.42486	0.1533:0.0:0.8467:0.0	.	.	.	.	X	1832	.	ENSP00000323194:Y1832X	Y	-	3	2	PLXNA4	131468441	1.000000	0.71417	0.998000	0.56505	0.816000	0.46133	3.290000	0.51755	1.228000	0.43614	0.561000	0.74099	TAC			0.502	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000338422.2		NM_181775	
ABCF2	10061	mdanderson.org	37	7	150913107	150913107	+	Silent	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:150913107G>T	ENST00000287844.2	-	12	1456	c.1347C>A	c.(1345-1347)ccC>ccA	p.P449P	ABCF2_ENST00000222388.2_Silent_p.P449P|ABCF2_ENST00000473874.1_5'Flank	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	449	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCATCTGTGGGTAGTAGCT	0.478																																					p.P449P													ABCF2,NS,carcinoma,-1,1	ABCF2	-1	1	0			c.C1347A												106.0	94.0	98.0					7																	150913107		2203	4300	6503	SO:0001819	synonymous_variant	10061	exon12			ATCTGTGGGTAGT	AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.1347C>A	7.37:g.150913107G>T			Somatic	64	0	0		WXS	Illumina HiSeq	Phase_I	44	0.07	3	NM_007189	133	0.00	0	O60864|Q75MJ0|Q75MJ1|Q96TE8	Silent	SNP	ENST00000287844.2	37	CCDS5923.1																																																																																					0.478	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000336086.1		NM_005692	
MNX1	3110	bcgsc.ca	37	7	156802391	156802391	+	Silent	SNP	G	G	A			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr7:156802391G>A	ENST00000252971.6	-	1	954	c.654C>T	c.(652-654)acC>acT	p.T218T	MNX1-AS1_ENST00000480284.1_RNA|MNX1_ENST00000543409.1_5'Flank|MNX1_ENST00000469500.1_5'Flank|MNX1-AS2_ENST00000429228.1_RNA	NM_005515.3	NP_005506.3	P50219	MNX1_HUMAN	motor neuron and pancreas homeobox 1	218					anatomical structure morphogenesis (GO:0009653)|diaphragm development (GO:0060539)|dorsal/ventral neural tube patterning (GO:0021904)|endocrine pancreas development (GO:0031018)|humoral immune response (GO:0006959)|motor neuron axon guidance (GO:0008045)|nerve development (GO:0021675)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATGCCCGCGGTGGACGCGC	0.721																																					p.T218T													.	MNX1	17		0			c.C654T												11.0	12.0	12.0					7																	156802391		2115	4160	6275	SO:0001819	synonymous_variant	3110	exon1			GCCCGCGGTGGAC	AF107457	CCDS34788.1, CCDS55187.1	7q36	2012-03-09	2007-08-09	2007-08-09	ENSG00000130675	ENSG00000130675		"""Homeoboxes / ANTP class : HOXL subclass"""	4979	protein-coding gene	gene with protein product		142994	"""homeo box HB9"", ""homeobox HB9"""	HLXB9		9843207	Standard	NM_001165255		Approved	HB9, HOXHB9, SCRA1	uc003wmz.4	P50219	OTTHUMG00000157181	ENST00000252971.6:c.654C>T	7.37:g.156802391G>A			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_1	29	0.14	4	NM_005515	49	0.00	0	F5H401|Q9Y648	Silent	SNP	ENST00000252971.6	37	CCDS34788.1																																																																																					0.721	MNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347796.3			
SPAG1	6674	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	8	101232531	101232532	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr8:101232531_101232532delTA	ENST00000388798.2	+	13	1751_1752	c.1560_1561delTA	c.(1558-1563)tctatgfs	p.M521fs	SPAG1_ENST00000251809.3_Frame_Shift_Del_p.M521fs|SPAG1_ENST00000523302.1_Intron	NM_003114.4	NP_003105.2	Q07617	SPAG1_HUMAN	sperm associated antigen 1	521					axonemal dynein complex assembly (GO:0070286)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		ATCCATTCTCTATGAAACCTCT	0.381																																					p.520_520del													.	SPAG1	80		0			c.1559_1560del																																									SO:0001589	frameshift_variant	6674	exon13			ATTCTCTATGAAA	AF311312	CCDS34930.1	8q22	2014-01-21			ENSG00000104450	ENSG00000104450		"""Tetratricopeptide (TTC) repeat domain containing"""	11212	protein-coding gene	gene with protein product		603395				16368546	Standard	NM_172218		Approved	SP75, FLJ32920, HSD-3.8, TPIS, CT140	uc003yjh.2	Q07617	OTTHUMG00000164706	ENST00000388798.2:c.1560_1561delTA	8.37:g.101232531_101232532delTA	ENSP00000373450:p.Met521fs		Somatic	124	0	0		WXS	Illumina HiSeq	.	108	0.14	15	NM_172218	18	0.00	0	A6NP70|B3KQ58|G3XAM3|Q7Z5G1	Frame_Shift_Del	DEL	ENST00000388798.2	37	CCDS34930.1																																																																																					0.381	SPAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000379853.2		NM_172218	
MYC	4609	mdanderson.org	37	8	128750607	128750607	+	Missense_Mutation	SNP	G	G	C	rs61752959	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr8:128750607G>C	ENST00000259523.6	+	2	1304	c.99G>C	c.(97-99)caG>caC	p.Q33H	MYC_ENST00000377970.2_Missense_Mutation_p.Q48H|MYC_ENST00000524013.1_Missense_Mutation_p.Q47H			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	33	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	ACTTCTACCAGCAGCAGCAGC	0.612		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q48H				Dom	yes		8	8q24.12-q24.13	4609	v-myc myelocytomatosis viral oncogene homolog (avian)		"""L, E"""	MYC,trunk,malignant_melanoma,0,1	MYC	0	1	1	Substitution - Missense(1)	skin(1)	c.G144C												44.0	46.0	45.0					8																	128750607		2203	4300	6503	SO:0001583	missense	4609	exon2			CTACCAGCAGCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.99G>C	8.37:g.128750607G>C	ENSP00000259523:p.Gln33His		Somatic	56	0.0357142857	2	1567	WXS	Illumina HiSeq	Phase_I	60	0.08	5	NM_002467	64	0.00	0	A8WFE7|P01107|Q14026	Missense_Mutation	SNP	ENST00000259523.6	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.18|10.18	1.279178|1.279178	0.23307|0.23307	.|.	.|.	ENSG00000136997|ENSG00000136997	ENST00000259523;ENST00000517291;ENST00000377970;ENST00000524013|ENST00000520751	T;T;T;T|.	0.16073|.	2.37;2.37;2.37;2.37|.	5.08|5.08	0.863|0.863	0.19062|0.19062	Transcription regulator Myc, N-terminal (1);|.	0.789352|.	0.11848|.	N|.	0.523582|.	T|T	0.36276|0.36276	0.0961|0.0961	N|N	0.11927|0.11927	0.2|0.2	0.23266|0.23266	N|N	0.998011|0.998011	B|.	0.02656|.	0.0|.	B|.	0.08055|.	0.003|.	T|T	0.47509|0.47509	-0.9112|-0.9112	10|6	0.11485|0.87932	T|D	0.65|0	-6.8285|-6.8285	19.6165|19.6165	0.95636|0.95636	0.0:0.7294:0.2705:0.0|0.0:0.7294:0.2705:0.0	.|.	33|.	P01106|.	MYC_HUMAN|.	H|T	33;47;48;47|22	ENSP00000259523:Q33H;ENSP00000429441:Q47H;ENSP00000367207:Q48H;ENSP00000430235:Q47H|.	ENSP00000259523:Q33H|ENSP00000430226:S22T	Q|S	+|+	3|2	2|0	MYC|MYC	128819789|128819789	0.000000|0.000000	0.05858|0.05858	0.997000|0.997000	0.53966|0.53966	0.870000|0.870000	0.49936|0.49936	-0.054000|-0.054000	0.11826|0.11826	-0.043000|-0.043000	0.13513|0.13513	0.561000|0.561000	0.74099|0.74099	CAG|AGC			0.612	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding		OTTHUMT00000250278.1			
FAM205A	259308	ucsc.edu	37	9	34726204	34726204	+	Missense_Mutation	SNP	G	G	A	rs521574	byFrequency	TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:34726204G>A	ENST00000378788.3	-	4	1072	c.1033C>T	c.(1033-1035)Cct>Tct	p.P345S		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	345				P -> S (in Ref. 1; BAC86357). {ECO:0000305}.		integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						GAGACCTGAGGAGTATTCTTC	0.498													G|||	1196	0.238818	0.0242	0.2032	5008	,	,		14032	0.4306		0.2525	False		,,,				2504	0.3425				p.P345S													.	FAM205A	45		0			c.C1033T												40.0	35.0	37.0					9																	34726204		685	1268	1953	SO:0001583	missense	259308	exon4			CCTGAGGAGTATT		CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.1033C>T	9.37:g.34726204G>A	ENSP00000417711:p.Pro345Ser		Somatic	216	0.0462962963	10		WXS	Illumina HiSeq		78	0.33	26	NM_001141917	0		0	A8MVW7	Missense_Mutation	SNP	ENST00000378788.3	37	CCDS55305.1	420	0.19230769230769232	8	0.016260162601626018	59	0.16298342541436464	177	0.3094405594405594	176	0.23218997361477572	G	0.011	-1.730029	0.00687	.	.	ENSG00000205108	ENST00000378788	T	0.17691	2.26	3.94	0.0376	0.14197	.	.	.	.	.	T	0.00012	0.0000	N	0.00368	-1.59	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.42565	-0.9444	8	0.02654	T	1	.	2.5239	0.04687	0.5645:0.0:0.2335:0.2021	rs521574	345	Q6ZU69	F205A_HUMAN	S	345	ENSP00000417711:P345S	ENSP00000417711:P345S	P	-	1	0	RP11-195F19.10	34716204	0.001000	0.12720	0.002000	0.10522	0.038000	0.13279	-0.010000	0.12743	-0.080000	0.12685	-0.351000	0.07748	CCT			0.498	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000001150.2		NM_001141917	
LMX1B	4010	hgsc.bcm.edu;mdanderson.org	37	9	129455807	129455807	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:129455807G>T	ENST00000373474.4	+	5	753	c.746G>T	c.(745-747)cGa>cTa	p.R249L	LMX1B_ENST00000526117.1_Missense_Mutation_p.R249L|LMX1B_ENST00000425646.2_Missense_Mutation_p.R226L|LMX1B_ENST00000561065.1_Missense_Mutation_p.R226L|LMX1B_ENST00000355497.5_Missense_Mutation_p.R249L			O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	249			R -> P (in NPS). {ECO:0000269|PubMed:9837817}.		cell proliferation (GO:0008283)|central nervous system neuron development (GO:0021954)|cerebellum morphogenesis (GO:0021587)|collagen fibril organization (GO:0030199)|dopaminergic neuron differentiation (GO:0071542)|dorsal/ventral pattern formation (GO:0009953)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|midbrain development (GO:0030901)|multicellular organismal development (GO:0007275)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|organ growth (GO:0035265)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|trabecular meshwork development (GO:0002930)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCAGGTCCGAGAGACACTG	0.612									Nail-Patella Syndrome																												p.R249L	Pancreas(110;1796 2278 18357 20466)												LMX1B_ENST00000355497,bladder,carcinoma,0,2	LMX1B_ENST00000355497	0	2	0			c.G746T	GRCh37	CM981220	LMX1B	M								51.0	53.0	52.0					9																	129455807		2203	4300	6503	SO:0001583	missense	4010	exon5	Familial Cancer Database	Osteo-Onychodysplasia, Turner-Kieser syndrome, Fong disease	AGGTCCGAGAGAC	U77457	CCDS6866.1, CCDS6866.2, CCDS55342.1, CCDS55343.1	9q33.3	2011-06-20			ENSG00000136944	ENSG00000136944		"""Homeoboxes / LIM class"""	6654	protein-coding gene	gene with protein product		602575		NPS1		9441763, 9590287	Standard	NM_002316		Approved		uc004bqj.3	O60663	OTTHUMG00000020692	ENST00000373474.4:c.746G>T	9.37:g.129455807G>T	ENSP00000362573:p.Arg249Leu		Somatic	51	0	0		WXS	Illumina HiSeq	.	64	0.06	4	NM_001174146	1	0.00	0	F8W7W6|O75463|Q5JU95|Q6ISC9	Missense_Mutation	SNP	ENST00000373474.4	37	CCDS55342.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.814079	0.90790	.	.	ENSG00000136944	ENST00000526117;ENST00000373474;ENST00000355497;ENST00000425646	D;D;D;D	0.97232	-4.3;-4.3;-4.3;-4.3	4.6	4.6	0.57074	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.85777	2.775	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.974;0.955	D	0.98256	1.0496	10	0.22109	T	0.4	.	16.5679	0.84603	0.0:0.0:1.0:0.0	.	226;226;249	B7ZLH2;O60663;F8VYP0	.;LMX1B_HUMAN;.	L	249;249;249;226	ENSP00000436930:R249L;ENSP00000362573:R249L;ENSP00000347684:R249L;ENSP00000390923:R226L	ENSP00000347684:R249L	R	+	2	0	LMX1B	128495628	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.882000	0.92420	2.370000	0.80446	0.561000	0.74099	CGA			0.612	LMX1B-002	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054123.2			
FNBP1	23048	mdanderson.org	37	9	132678245	132678245	+	Splice_Site	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:132678245C>T	ENST00000446176.2	-	11	1371	c.1185G>A	c.(1183-1185)ctG>ctA	p.L395L	FNBP1_ENST00000355681.3_Splice_Site_p.L366L|FNBP1_ENST00000478129.1_Intron|FNBP1_ENST00000443566.2_Splice_Site_p.L23L|FNBP1_ENST00000420781.1_Intron	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	395	Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTGTGCTTACCAGCTTGAGAG	0.373			T	MLL	AML																																p.L395L				Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	.	.			0			c.G1185A												80.0	75.0	76.0					9																	132678245		1865	4106	5971	SO:0001630	splice_region_variant	23048	exon11			GCTTACCAGCTTG	AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1185+1G>A	9.37:g.132678245C>T			Somatic	46	0	0		WXS	Illumina HiSeq	Phase_I	41	0.07	3	NM_015033	8	0.00	0	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Silent	SNP	ENST00000446176.2	37	CCDS48040.1																																																																																					0.373	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000054630.2			Silent
DNLZ	728489	mdanderson.org	37	9	139256497	139256497	+	Silent	SNP	A	A	G			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chr9:139256497A>G	ENST00000371738.3	-	3	578	c.504T>C	c.(502-504)ggT>ggC	p.G168G	CARD9_ENST00000460290.1_5'Flank|DNLZ_ENST00000371739.3_3'UTR	NM_001080849.1	NP_001074318.1	Q5SXM8	DNLZ_HUMAN	DNL-type zinc finger	168						mitochondrion (GO:0005739)	zinc ion binding (GO:0008270)			central_nervous_system(1)|prostate(1)	2		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.42e-06)|Epithelial(140;3.3e-06)		GGCTGGGGGGACCCTCATCCT	0.687																																					p.G168G													.	.			0			c.T504C												16.0	20.0	19.0					9																	139256497		2189	4287	6476	SO:0001819	synonymous_variant	728489	exon3			GGGGGGACCCTCA	AL592301	CCDS35179.1	9q34.3	2013-01-10	2007-12-18	2007-12-18	ENSG00000213221	ENSG00000213221		"""Zinc fingers"""	33879	protein-coding gene	gene with protein product	"""translocase of inner mitochondrial membrane 15 homolog (yeast)"", ""HSP70 escort protein"""		"""chromosome 9 open reading frame 151"""	C9orf151		21530495, 22162012	Standard	NM_001080849		Approved	RP11-413M3.2, ZIM17, bA413M3.2, TIMM15, HEP	uc004chf.2	Q5SXM8	OTTHUMG00000020931	ENST00000371738.3:c.504T>C	9.37:g.139256497A>G			Somatic	59	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_001080849	162	0.02	3	B2RUX5|B9EJE1	Silent	SNP	ENST00000371738.3	37	CCDS35179.1																																																																																					0.687	DNLZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055075.2		NM_001080849	
MT-ND5	4540	broad.mit.edu	37	M	13947	13947	+	Silent	SNP	C	C	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chrM:13947C>T	ENST00000361567.2	+	1	1611	c.1611C>T	c.(1609-1611)atC>atT	p.I537I	MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	537					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CACCGCACAATCCCCTATCTA	0.423																																					p.I537I													.	.			0			c.C1611T																																									SO:0001819	synonymous_variant	4540	exon1			CACAATCCCCTAT			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1611C>T	M.37:g.13947C>T			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	4	0.75	3	ENST00000361567	0		0	Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37																																																																																						0.423	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				YP_003024036	
RBM3	5935	mdanderson.org	37	X	48434941	48434941	+	Missense_Mutation	SNP	G	G	T			TCGA-WZ-A7V3-01A-11D-A435-10	TCGA-WZ-A7V3-10A-01D-A438-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7dff85e-11f0-4bd7-b76d-49ac37ad49f1	8fe77e51-5995-4d50-8699-6641bb60ad64	g.chrX:48434941G>T	ENST00000376759.3	+	5	425	c.362G>T	c.(361-363)cGa>cTa	p.R121L	AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000466764.1_3'UTR|RBM3_ENST00000430348.2_Missense_Mutation_p.D94Y|RBM3_ENST00000376755.1_Missense_Mutation_p.R121L|RBM3_ENST00000354480.2_Missense_Mutation_p.D94Y	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3	121	Gly-rich.				positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						TATGACAGTCGACCTGGAGGG	0.498																																					p.R121L													.	.			0			c.G362T												79.0	67.0	71.0					X																	48434941		2198	4295	6493	SO:0001583	missense	5935	exon5			ACAGTCGACCTGG	BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.362G>T	X.37:g.48434941G>T	ENSP00000365950:p.Arg121Leu		Somatic	47	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_006743	2391	0.00	2		Missense_Mutation	SNP	ENST00000376759.3	37	CCDS14301.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.89|14.89	2.670532|2.670532	0.47781|0.47781	.|.	.|.	ENSG00000102317|ENSG00000102317	ENST00000430348;ENST00000354480|ENST00000376759;ENST00000376755	.|T;T	.|0.20738	.|2.05;2.05	4.63|4.63	4.63|4.63	0.57726|0.57726	.|.	.|0.283763	.|0.19035	.|U	.|0.124432	T|T	0.32941|0.32941	0.0846|0.0846	L|L	0.49126|0.49126	1.545|1.545	0.22226|0.22226	N|N	0.99928|0.99928	.|D	.|0.53745	.|0.962	.|P	.|0.53450	.|0.726	T|T	0.09422|0.09422	-1.0675|-1.0675	6|10	0.45353|0.66056	T|D	0.12|0.02	1.5468|1.5468	14.4892|14.4892	0.67639|0.67639	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|121	.|P98179	.|RBM3_HUMAN	Y|L	94|121	.|ENSP00000365950:R121L;ENSP00000365946:R121L	ENSP00000346473:D94Y|ENSP00000365946:R121L	D|R	+|+	1|2	0|0	RBM3|RBM3	48319885|48319885	1.000000|1.000000	0.71417|0.71417	0.940000|0.940000	0.37924|0.37924	0.478000|0.478000	0.33099|0.33099	6.033000|6.033000	0.70925|0.70925	2.218000|2.218000	0.71995|0.71995	0.600000|0.600000	0.82982|0.82982	GAC|CGA			0.498	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060755.1		NM_006743	
