#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
PLEKHG5	57449	broad.mit.edu;bcgsc.ca;mdanderson.org	37	1	6537598	6537598	+	Missense_Mutation	SNP	G	G	T	rs140687324	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:6537598G>T	ENST00000400915.3	-	3	268	c.202C>A	c.(202-204)Ccc>Acc	p.P68T	PLEKHG5_ENST00000537245.1_Missense_Mutation_p.P91T|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.P89T|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.P49T|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.P12T|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.P89T|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.P12T|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.P12T|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.P12T|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.P12T|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.P12T|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.P81T	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	68					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTTGTGGGGGAAGGTCGAAG	0.617													G|||	4	0.000798722	0.0	0.0	5008	,	,		16383	0.0		0.002	False		,,,				2504	0.002				p.P91T													.	PLEKHG5	66		0			c.C271A							G	THR/PRO,THR/PRO,THR/PRO,THR/PRO,THR/PRO	0,4406		0,0,2203	82.0	82.0	82.0		202,34,34,34,265	3.6	1.0	1	dbSNP_134	82	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense,missense,missense,missense	PLEKHG5	NM_001042663.1,NM_001042664.1,NM_001042665.1,NM_020631.3,NM_198681.2	38,38,38,38,38	0,4,6499	TT,TG,GG		0.0465,0.0,0.0308	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	68/1063,12/1007,12/1007,12/1007,89/1084	6537598	4,13002	2203	4300	6503	SO:0001583	missense	57449	exon3			GTGGGGGAAGGTC	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.202C>A	1.37:g.6537598G>T	ENSP00000383706:p.Pro68Thr		Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	35	0.14	5	NM_001265592	6	0.17	1	B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	ENST00000400915.3	37	CCDS41241.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	15.00	2.703194	0.48412	0.0	4.65E-4	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.71579	0.65;-0.54;-0.54;0.65;0.65;0.65;-0.54;-0.58;0.65;-0.54;0.65;-0.58	4.52	3.58	0.41010	.	0.147380	0.46758	D	0.000261	T	0.64091	0.2567	L	0.53249	1.67	0.33088	D	0.537585	P;P;P;P;P	0.48503	0.911;0.852;0.856;0.911;0.77	B;B;B;B;B	0.42593	0.392;0.392;0.219;0.392;0.219	T	0.73990	-0.3808	10	0.72032	D	0.01	-23.941	8.1342	0.31046	0.0909:0.1628:0.7463:0.0	.	81;12;89;89;68	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	T	89;12;12;68;89;49;12;12;81;12;91;12	ENSP00000366977:P89T;ENSP00000344570:P12T;ENSP00000383704:P12T;ENSP00000383706:P68T;ENSP00000366969:P89T;ENSP00000366961:P49T;ENSP00000366957:P12T;ENSP00000366954:P12T;ENSP00000441445:P81T;ENSP00000366966:P12T;ENSP00000439625:P91T;ENSP00000437710:P12T	ENSP00000344570:P12T	P	-	1	0	PLEKHG5	6460185	1.000000	0.71417	0.996000	0.52242	0.825000	0.46686	5.113000	0.64640	0.986000	0.38683	0.407000	0.27541	CCC			0.617	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000002631.1		NM_020631	
SLC2A1	6513	mdanderson.org	37	1	43395320	43395320	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:43395320G>A	ENST00000426263.3	-	6	989	c.811C>T	c.(811-813)Ccc>Tcc	p.P271S	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	271					carbohydrate metabolic process (GO:0005975)|cellular response to glucose starvation (GO:0042149)|energy reserve metabolic process (GO:0006112)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|protein complex assembly (GO:0006461)|regulation of insulin secretion (GO:0050796)|response to osmotic stress (GO:0006970)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|female pronucleus (GO:0001939)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|midbody (GO:0030496)|plasma membrane (GO:0005886)	D-glucose transmembrane transporter activity (GO:0055056)|dehydroascorbic acid transporter activity (GO:0033300)|glucose transmembrane transporter activity (GO:0005355)|identical protein binding (GO:0042802)|protein self-association (GO:0043621)|xenobiotic transporter activity (GO:0042910)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	ATGAGGATGGGCTGGCGGTAG	0.632																																					p.P271S													.	.			0			c.C811T												73.0	70.0	71.0					1																	43395320		2203	4300	6503	SO:0001583	missense	6513	exon6			GGATGGGCTGGCG	K03195	CCDS477.1	1p34.2	2013-05-22			ENSG00000117394	ENSG00000117394		"""Solute carriers"""	11005	protein-coding gene	gene with protein product		138140	"""human T-cell leukemia virus (I and II) receptor"""	GLUT1, GLUT, HTLVR		8839927, 14622599, 18451999	Standard	NM_006516		Approved	DYT18	uc001cik.2	P11166	OTTHUMG00000007657	ENST00000426263.3:c.811C>T	1.37:g.43395320G>A	ENSP00000416293:p.Pro271Ser		Somatic	56	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_006516	1618	0.00	0	A8K9S6|B2R620|D3DPX0|O75535|Q147X2	Missense_Mutation	SNP	ENST00000426263.3	37	CCDS477.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.745577	0.89663	.	.	ENSG00000117394	ENST00000426263;ENST00000372501;ENST00000397019;ENST00000439722	D;D	0.82984	-1.67;-1.67	5.14	5.14	0.70334	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.87456	2.885	0.80722	D	1	D	0.55385	0.971	D	0.64506	0.926	D	0.93025	0.6443	10	0.87932	D	0	.	16.1096	0.81250	0.0:0.0:1.0:0.0	.	271	P11166	GTR1_HUMAN	S	271;271;213;176	ENSP00000416293:P271S;ENSP00000395521:P176S	ENSP00000361579:P271S	P	-	1	0	SLC2A1	43167907	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.966000	0.87956	2.393000	0.81446	0.555000	0.69702	CCC			0.632	SLC2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000020358.2		NM_006516	
MED8	112950	mdanderson.org	37	1	43855647	43855647	+	5'Flank	SNP	C	C	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:43855647C>A	ENST00000372457.4	-	0	0				MED8_ENST00000372455.4_5'Flank|SZT2_ENST00000310739.4_Nonsense_Mutation_p.S3*|SZT2_ENST00000562955.1_Nonsense_Mutation_p.S3*|RP1-92O14.6_ENST00000436713.1_RNA|SZT2_ENST00000372450.4_Nonsense_Mutation_p.S3*|MED8_ENST00000290663.6_5'Flank	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8						gene expression (GO:0010467)|protein ubiquitination (GO:0016567)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	RNA polymerase II transcription cofactor activity (GO:0001104)			endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGATGGCCTCGGAGCGCCCG	0.741																																					p.S3X													.	.			0			c.C8A												5.0	7.0	6.0					1																	43855647		2036	3997	6033	SO:0001631	upstream_gene_variant	23334	exon1			TGGCCTCGGAGCG	AF521562, BC010543	CCDS486.2, CCDS487.2, CCDS60108.1	1p34.1	2008-02-05	2007-07-30		ENSG00000159479	ENSG00000159479			19971	protein-coding gene	gene with protein product		607956	"""mediator of RNA polymerase II transcription, subunit 8 homolog (S. cerevisiae)"""			12149480, 9671713	Standard	NM_052877		Approved	MGC17544, MGC19641, ARC32	uc001cje.2	Q96G25	OTTHUMG00000007421		1.37:g.43855647C>A	Exception_encountered		Somatic	15	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_015284	1	0.00	0	A9IZ91|A9IZ92|Q5JUY8|Q96FQ4	Nonsense_Mutation	SNP	ENST00000372457.4	37	CCDS487.2	.	.	.	.	.	.	.	.	.	.	C	36	5.740772	0.96873	.	.	ENSG00000223526	ENST00000372450;ENST00000310739;ENST00000357658	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.494	0.67670	0.0:1.0:0.0:0.0	.	.	.	.	X	3	.	ENSP00000312234:S3X	S	+	2	0	AL139289.1	43628234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.342000	0.52159	2.667000	0.90743	0.655000	0.94253	TCG			0.741	MED8-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000318959.1		NM_052877	
MTF2	22823	broad.mit.edu;ucsc.edu	37	1	93580262	93580262	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:93580262G>T	ENST00000370298.4	+	4	593	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	MTF2_ENST00000370303.4_Nonsense_Mutation_p.E102*|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000540243.1_5'UTR|MTF2_ENST00000545708.1_5'UTR	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	102					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TGGAAGTGGGGAAATGGTCTG	0.343																																					p.E102X													.	MTF2	51		0			c.G304T												79.0	81.0	80.0					1																	93580262		2203	4300	6503	SO:0001587	stop_gained	22823	exon4			AGTGGGGAAATGG	AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.304G>T	1.37:g.93580262G>T	ENSP00000359321:p.Glu102*		Somatic	177	0.0056497175	1		WXS	Illumina HiSeq	Phase_I	202	0.29	58	NM_001164392	27	0.26	7	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Nonsense_Mutation	SNP	ENST00000370298.4	37	CCDS742.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445481	0.96187	.	.	ENSG00000143033	ENST00000370298;ENST00000370303	.	.	.	5.24	4.33	0.51752	.	0.097855	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-5.8633	10.1707	0.42908	0.0723:0.0:0.7917:0.136	.	.	.	.	X	102	.	ENSP00000359321:E102X	E	+	1	0	MTF2	93352850	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.508000	0.81686	1.215000	0.43411	-0.253000	0.11424	GAA			0.343	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000028075.3		NM_007358	
NUDT17	200035	hgsc.bcm.edu	37	1	145586679	145586679	+	Silent	SNP	C	C	A	rs199513201|rs150364859	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:145586679C>A	ENST00000334513.5	-	8	908	c.897G>T	c.(895-897)ccG>ccT	p.P299P	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	299							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CACTTTTACACGGTGGGGGTG	0.522																																					p.P299P													NUDT17,NS,carcinoma,-1,1	NUDT17	-1	1	0			c.G897T												106.0	107.0	107.0					1																	145586679		2203	4300	6503	SO:0001819	synonymous_variant	200035	exon8			TTTACACGGTGGG	BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.897G>T	1.37:g.145586679C>A			Somatic	118	0.0169491525	2		WXS	Illumina HiSeq	.	70	0.07	5	NM_001012758	4	0.00	0		Silent	SNP	ENST00000334513.5	37	CCDS30830.1	.	.	.	.	.	.	.	.	.	.	C	8.521	0.868653	0.17322	.	.	ENSG00000186364	ENST00000444015	.	.	.	4.47	-3.47	0.04753	.	.	.	.	.	T	0.07279	0.0184	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34875	-0.9811	4	.	.	.	-0.4276	3.1648	0.06531	0.4582:0.1882:0.0:0.3536	.	.	.	.	L	183	.	.	R	-	2	0	NUDT17	144298036	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.500000	0.06405	-0.660000	0.05352	-0.300000	0.09419	CGT			0.522	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000038541.3		XM_496395	
RASAL2	9462	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	1	178063808	178063808	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:178063808C>T	ENST00000367649.3	+	1	533	c.181C>T	c.(181-183)Cag>Tag	p.Q61*	RASAL2-AS1_ENST00000421505.1_lincRNA|RASAL2_ENST00000448150.3_Nonsense_Mutation_p.Q43*			Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GTGCCAGCAACAGAGCTGGGT	0.597																																					p.Q61X													.	.			0			c.C181T												48.0	40.0	42.0					1																	178063808		2203	4300	6503	SO:0001587	stop_gained	9462	exon1			CAGCAACAGAGCT	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000367649.3:c.181C>T	1.37:g.178063808C>T	ENSP00000356621:p.Gln61*		Somatic	212	0	0		WXS	Illumina HiSeq	.	219	0.24	52	NM_170692	1	1.00	1	F8W755|O95174|Q2TB22|Q5TFU9	Nonsense_Mutation	SNP	ENST00000367649.3	37	CCDS1321.2	.	.	.	.	.	.	.	.	.	.	C	39	7.587497	0.98374	.	.	ENSG00000075391	ENST00000448150;ENST00000367649	.	.	.	4.41	3.48	0.39840	.	0.000000	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	9.243	0.37509	0.0:0.8951:0.0:0.1049	.	.	.	.	X	43;61	.	ENSP00000356621:Q61X	Q	+	1	0	RASAL2	176330431	0.983000	0.35010	0.993000	0.49108	0.967000	0.64934	2.772000	0.47678	2.152000	0.67230	0.491000	0.48974	CAG			0.597	RASAL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000352415.1		NM_170692	
RGSL1	353299	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	182443575	182443575	+	Silent	SNP	G	G	C	rs377412906		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:182443575G>C	ENST00000294854.8	+	6	1349	c.1329G>C	c.(1327-1329)ccG>ccC	p.P443P	RGSL1_ENST00000542961.1_Silent_p.P478P	NM_001137669.1	NP_001131141.1	A5PLK6	RGSL_HUMAN	regulator of G-protein signaling like 1	443					termination of G-protein coupled receptor signaling pathway (GO:0038032)	integral component of membrane (GO:0016021)				central_nervous_system(2)|skin(4)	6						AGATTGGTCCGTGCTTACCAC	0.483																																					p.P443P	Ovarian(71;11 616 11292 12944 18021 32289 33994 41738 46526)												.	RGSL1	111		0			c.G1329C												64.0	54.0	57.0					1																	182443575		692	1591	2283	SO:0001819	synonymous_variant	353299	exon6			TGGTCCGTGCTTA	AF510428	CCDS58049.1	1q25	2013-04-02	2007-08-14		ENSG00000121446	ENSG00000121446			18636	protein-coding gene	gene with protein product		611012	"""regulator of G-protein signalling like 1"", ""regulator of G-protein signaling like 2"", ""regulator of G-protein signalling like 2"""	RGSL2		12801632	Standard	NM_001137669		Approved		uc009wxw.3	A5PLK6	OTTHUMG00000035217	ENST00000294854.8:c.1329G>C	1.37:g.182443575G>C			Somatic	286	0.0034965035	1		WXS	Illumina HiSeq	Phase_I	233	0.31	73	NM_001137669	0		0	A2A2Z0|A6PVM2|A6PVM3|Q0VAJ4|Q0VAJ5|Q6ZRL0|Q86UV0|Q9H084	Silent	SNP	ENST00000294854.8	37	CCDS58049.1																																																																																					0.483	RGSL1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000320710.3		NM_181572	
CENPF	1063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	1	214788200	214788200	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr1:214788200C>G	ENST00000366955.3	+	3	356	c.188C>G	c.(187-189)aCa>aGa	p.T63R		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0	Interaction with SNAP25 and required for localization to the cytoplasm. {ECO:0000250}.				cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ACCGAGGGTACAAACCTGAAA	0.348																																					p.T63R	Colon(80;575 1284 11000 14801 43496)												.	.			0			c.C188G												41.0	43.0	43.0					1																	214788200		2202	4300	6502	SO:0001583	missense	1063	exon3			AGGGTACAAACCT	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.188C>G	1.37:g.214788200C>G	ENSP00000355922:p.Thr63Arg		Somatic	302	0	0		WXS	Illumina HiSeq	.	271	0.25	68	NM_016343	2	0.00	0	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832165	0.50845	.	.	ENSG00000117724	ENST00000366955	T	0.24151	1.87	5.12	4.2	0.49525	Centromere protein Cenp-F, N-terminal (1);	.	.	.	.	T	0.30572	0.0769	.	.	.	0.25139	N	0.990517	D	0.58620	0.983	P	0.50659	0.647	T	0.09037	-1.0693	8	0.22706	T	0.39	.	13.2693	0.60152	0.0:0.9238:0.0:0.0762	.	63	P49454	CENPF_HUMAN	R	63	ENSP00000355922:T63R	ENSP00000355922:T63R	T	+	2	0	CENPF	212854823	0.521000	0.26258	0.361000	0.25849	0.798000	0.45092	5.690000	0.68241	1.162000	0.42619	0.644000	0.83932	ACA			0.348	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000089749.1		NM_016343	
ACTA2	59	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	90697898	90697898	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:90697898C>G	ENST00000458208.1	-	8	1384	c.910G>C	c.(910-912)Ggc>Cgc	p.G304R	ACTA2_ENST00000480297.1_5'Flank|ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.G304R	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	304					glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ATAGTGGTGCCCCCTGATAGG	0.507																																					p.G304R													.	.			0			c.G910C												247.0	201.0	216.0					10																	90697898		2203	4300	6503	SO:0001583	missense	59	exon8			TGGTGCCCCCTGA	X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.910G>C	10.37:g.90697898C>G	ENSP00000402373:p.Gly304Arg		Somatic	232	0	0		WXS	Illumina HiSeq	.	145	0.35	51	NM_001141945	55	0.15	8	B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	ENST00000458208.1	37	CCDS7392.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.886887	0.72410	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.99511	-6.05;-6.05	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	H	0.99973	5.135	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96257	0.9188	10	0.87932	D	0	.	19.2286	0.93827	0.0:1.0:0.0:0.0	.	304	P62736	ACTA_HUMAN	R	304;304;259	ENSP00000224784:G304R;ENSP00000402373:G304R	ENSP00000224784:G304R	G	-	1	0	ACTA2	90687878	1.000000	0.71417	0.996000	0.52242	0.931000	0.56810	7.818000	0.86416	2.890000	0.99128	0.655000	0.94253	GGC			0.507	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049264.1		NM_001613	
CYP2C19	1557	hgsc.bcm.edu	37	10	96580387	96580387	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:96580387G>T	ENST00000371321.3	+	6	1036	c.954G>T	c.(952-954)gaG>gaT	p.E318D	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	318					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	AGCACCCAGAGGTCACAGGTA	0.453																																					p.E318D													CYP2C19,NS,carcinoma,+1,2	CYP2C19	1	2	0			c.G954T												164.0	149.0	154.0					10																	96580387		2203	4300	6503	SO:0001583	missense	1557	exon6			CCCAGAGGTCACA	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.954G>T	10.37:g.96580387G>T	ENSP00000360372:p.Glu318Asp		Somatic	73	0	0		WXS	Illumina HiSeq	.	45	0.07	3	NM_000769	0		0	P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	G	9.559	1.117987	0.20877	.	.	ENSG00000165841	ENST00000371321	T	0.13307	2.6	3.95	-1.73	0.08081	.	0.591461	0.15846	U	0.241750	T	0.07143	0.0181	L	0.28054	0.825	0.09310	N	1	B	0.11235	0.004	B	0.15052	0.012	T	0.26849	-1.0091	10	0.37606	T	0.19	.	3.0572	0.06188	0.2843:0.0:0.394:0.3217	.	318	P33261	CP2CJ_HUMAN	D	318	ENSP00000360372:E318D	ENSP00000360372:E318D	E	+	3	2	CYP2C19	96570377	0.463000	0.25799	0.654000	0.29608	0.647000	0.38526	-0.667000	0.05274	-0.655000	0.05387	0.400000	0.26472	GAG			0.453	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000049490.1		NM_000769	
TMEM180	79847	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	10	104229774	104229774	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:104229774C>T	ENST00000238936.4	+	4	430	c.193C>T	c.(193-195)Ctc>Ttc	p.L65F	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.L65F|TMEM180_ENST00000450947.2_3'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	65						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGAACAGCCTCAATGACCC	0.602																																					p.L65F													.	.			0			c.C193T												140.0	97.0	111.0					10																	104229774		2203	4300	6503	SO:0001583	missense	79847	exon4			AACAGCCTCAATG	AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.193C>T	10.37:g.104229774C>T	ENSP00000238936:p.Leu65Phe		Somatic	123	0	0		WXS	Illumina HiSeq	.	66	0.29	19	NM_024789	4	0.25	1	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310788	0.40895	.	.	ENSG00000138111	ENST00000447593;ENST00000238936;ENST00000369931	D	0.84223	-1.82	5.08	1.09	0.20402	Major facilitator superfamily domain, general substrate transporter (1);	0.265101	0.37715	N	0.001963	T	0.77922	0.4203	L	0.43152	1.355	0.80722	D	1	B;B;B	0.26041	0.001;0.01;0.14	B;B;B	0.31686	0.002;0.024;0.134	T	0.64588	-0.6372	10	0.25751	T	0.34	.	9.3288	0.38010	0.0:0.7005:0.0:0.2995	.	65;65;65	B4DWN6;Q14CX5;Q6UWF4	.;TM180_HUMAN;.	F	65	ENSP00000238936:L65F	ENSP00000238936:L65F	L	+	1	0	TMEM180	104219764	0.998000	0.40836	0.996000	0.52242	0.918000	0.54935	0.560000	0.23500	-0.058000	0.13177	-0.320000	0.08662	CTC			0.602	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050075.2		NM_024789	
PCGF6	84108	broad.mit.edu;mdanderson.org	37	10	105110539	105110539	+	Silent	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:105110539C>T	ENST00000369847.3	-	1	352	c.285G>A	c.(283-285)gaG>gaA	p.E95E	PCGF6_ENST00000337211.4_Silent_p.E95E|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	95	Glu-rich.				negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		cctcctcctcctcttcttcct	0.642																																					p.E95E													.	PCGF6	23		0			c.G285A												15.0	14.0	14.0					10																	105110539		2196	4298	6494	SO:0001819	synonymous_variant	84108	exon1			CTCCTCCTCTTCT	AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.285G>A	10.37:g.105110539C>T			Somatic	53	0	0		WXS	Illumina HiSeq	Phase_I	29	0.10	3	NM_001011663	12	0.00	0	A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Silent	SNP	ENST00000369847.3	37	CCDS31275.1																																																																																					0.642	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000050132.1		NM_032154	
CFAP46	54777	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;mdanderson.org	37	10	134713076	134713076	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr10:134713076G>A	ENST00000368586.5	-	23	3119	c.3019C>T	c.(3019-3021)Cga>Tga	p.R1007*	TTC40_ENST00000368582.2_Nonsense_Mutation_p.R1007*	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GCCACCAGTCGCAGCTGCTTC	0.677																																					p.R1007X													.	.			0			c.C3019T																																									SO:0001587	stop_gained	54777	exon23			CCAGTCGCAGCTG																												ENST00000368586.5:c.3019C>T	10.37:g.134713076G>A	ENSP00000357575:p.Arg1007*		Somatic	135	0	0		WXS	Illumina HiSeq	.	64	0.19	12	NM_001200049	0		0		Nonsense_Mutation	SNP	ENST00000368586.5	37	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	G	38	7.174850	0.98114	.	.	ENSG00000171811	ENST00000368586;ENST00000368582	.	.	.	3.58	1.56	0.23342	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.0123	0.19582	0.0:0.2132:0.5671:0.2198	.	.	.	.	X	1007	.	ENSP00000357571:R1007X	R	-	1	2	C10orf93	134563066	0.996000	0.38824	0.880000	0.34516	0.573000	0.36030	1.879000	0.39618	0.277000	0.22141	0.462000	0.41574	CGA			0.677	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000051095.3			
MUC2	4583	mdanderson.org	37	11	1093298	1093298	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:1093298C>T	ENST00000441003.2	+	30	5144	c.5117C>T	c.(5116-5118)aCg>aTg	p.T1706M	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000359061.5_Missense_Mutation_p.T1673M|MUC2_ENST00000333592.6_5'Flank	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	accaccactacggtgacccca	0.637																																					p.T1706M													.	.			0			c.C5117T												116.0	163.0	146.0					11																	1093298		1884	3471	5355	SO:0001583	missense	4583	exon30			CCACTACGGTGAC	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5117C>T	11.37:g.1093298C>T	ENSP00000415183:p.Thr1706Met		Somatic	32	0	0		WXS	Illumina HiSeq	Phase_I	20	0.10	2	NM_002457	0		0	Q14878	Missense_Mutation	SNP	ENST00000441003.2	37		.	.	.	.	.	.	.	.	.	.	C	3.981	-0.006376	0.07773	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	T;T	0.10763	2.84;3.0	1.45	1.45	0.22620	.	28.057100	0.02299	U	0.070964	T	0.07908	0.0198	.	.	.	0.09310	N	1	D	0.62365	0.991	B	0.37451	0.25	T	0.31779	-0.9931	9	0.42905	T	0.14	.	6.2785	0.20993	0.0:1.0:0.0:0.0	.	1706	E7EUV1	.	M	1706;1673	ENSP00000415183:T1706M;ENSP00000351956:T1673M	ENSP00000351956:T1673M	T	+	2	0	MUC2	1083298	0.000000	0.05858	0.001000	0.08648	0.029000	0.11900	0.616000	0.24344	0.794000	0.33899	0.184000	0.17185	ACG			0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000345894.2		NM_002457	
MUC5B	727897	broad.mit.edu	37	11	1268037	1268037	+	Silent	SNP	G	G	A	rs533261138	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:1268037G>A	ENST00000529681.1	+	31	9985	c.9927G>A	c.(9925-9927)ccG>ccA	p.P3309P	MUC5B_ENST00000447027.1_Silent_p.P3312P|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3309	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAAAGTGCCGACTACCACAA	0.637													g|||	42	0.00838658	0.0	0.0043	5008	,	,		18213	0.0357		0.001	False		,,,				2504	0.002				p.P3309P													.	MUC5B	473		0			c.G9927A												33.0	50.0	45.0					11																	1268037		1874	4089	5963	SO:0001819	synonymous_variant	727897	exon31			AGTGCCGACTACC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.9927G>A	11.37:g.1268037G>A			Somatic	319	0.0031347962	1		WXS	Illumina HiSeq	Phase_I	187	0.02	4	NM_002458	0		0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.793	-0.043215	0.07452	.	.	ENSG00000117983	ENST00000538459	.	.	.	3.11	-6.22	0.02058	.	.	.	.	.	T	0.12135	0.0295	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.26395	-1.0104	5	0.12430	T	0.62	.	0.2084	0.00153	0.249:0.2113:0.2624:0.2772	.	.	.	.	Q	193	.	ENSP00000442622:R193Q	R	+	2	0	MUC5B	1224613	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	-0.501000	0.06398	-2.267000	0.00686	0.195000	0.17529	CGA			0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000390041.2		XM_001126093	
CARS	833	mdanderson.org	37	11	3060461	3060461	+	Missense_Mutation	SNP	G	G	T	rs200598975		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:3060461G>T	ENST00000397111.5	-	5	610	c.365C>A	c.(364-366)gCg>gAg	p.A122E	CARS_ENST00000401769.3_Missense_Mutation_p.A135E|CARS-AS1_ENST00000499962.1_RNA|CARS_ENST00000278224.9_Missense_Mutation_p.A122E|CARS_ENST00000397114.3_Missense_Mutation_p.A112E|CARS_ENST00000380525.4_Missense_Mutation_p.A205E			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	122					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	GAGCTGTGCCGCTTCAGGCCT	0.572			T	ALK	ALCL																																p.A205E	Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	.	.			0			c.C614A												70.0	65.0	66.0					11																	3060461		2202	4298	6500	SO:0001583	missense	833	exon6			TGTGCCGCTTCAG	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.365C>A	11.37:g.3060461G>T	ENSP00000380300:p.Ala122Glu		Somatic	92	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_001014437	30	0.00	0	Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Missense_Mutation	SNP	ENST00000397111.5	37	CCDS7742.1	.	.	.	.	.	.	.	.	.	.	G	8.955	0.969129	0.18659	.	.	ENSG00000110619	ENST00000380525;ENST00000397111;ENST00000278224;ENST00000397114;ENST00000401769	T;T;T;T;T	0.43294	0.95;0.96;0.95;0.96;0.95	4.28	4.28	0.50868	Rossmann-like alpha/beta/alpha sandwich fold (1);	0.342215	0.29767	N	0.011255	T	0.35941	0.0949	L	0.41573	1.285	0.38165	D	0.939153	B;B;P;P;B;P	0.45212	0.011;0.142;0.797;0.853;0.065;0.797	B;B;B;B;B;P	0.44860	0.069;0.111;0.347;0.168;0.048;0.462	T	0.25398	-1.0133	10	0.02654	T	1	-14.7178	16.9083	0.86134	0.0:0.0:1.0:0.0	.	135;205;122;122;205;112	B4DKY1;B4DPV7;P49589;P49589-2;Q5HYE4;A8MVQ3	.;.;SYCC_HUMAN;.;.;.	E	205;122;122;112;135	ENSP00000369897:A205E;ENSP00000380300:A122E;ENSP00000278224:A122E;ENSP00000380303:A112E;ENSP00000384069:A135E	ENSP00000278224:A122E	A	-	2	0	CARS	3017037	0.980000	0.34600	0.006000	0.13384	0.005000	0.04900	6.051000	0.71072	2.202000	0.70862	0.491000	0.48974	GCG			0.572	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000030117.4		NM_001751	
OR51L1	119682	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	11	5020846	5020846	+	Missense_Mutation	SNP	G	G	T	rs199789707		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:5020846G>T	ENST00000321543.1	+	1	634	c.634G>T	c.(634-636)Gat>Tat	p.D212Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTAGGTGTGGATTCAATCTT	0.418																																					p.D212Y													.	OR51L1	60		0			c.G634T												239.0	208.0	219.0					11																	5020846		2201	4298	6499	SO:0001583	missense	119682	exon1			GGTGTGGATTCAA	AB065799	CCDS31369.1	11p15.4	2012-08-09			ENSG00000176798	ENSG00000176798		"""GPCR / Class A : Olfactory receptors"""	14759	protein-coding gene	gene with protein product							Standard	NM_001004755		Approved		uc010qyu.2	Q8NGJ5	OTTHUMG00000066605	ENST00000321543.1:c.634G>T	11.37:g.5020846G>T	ENSP00000322156:p.Asp212Tyr		Somatic	213	0.0046948357	1		WXS	Illumina HiSeq	Phase_I	120	0.42	50	NM_001004755	0		0	Q6IFE5	Missense_Mutation	SNP	ENST00000321543.1	37	CCDS31369.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881335	0.51801	.	.	ENSG00000176798	ENST00000321543	T	0.37411	1.2	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000346	T	0.75079	0.3801	H	0.97918	4.105	0.30716	N	0.748722	D	0.89917	1.0	D	0.91635	0.999	T	0.82263	-0.0544	10	0.87932	D	0	.	17.4255	0.87525	0.0:0.0:1.0:0.0	.	212	Q8NGJ5	O51L1_HUMAN	Y	212	ENSP00000322156:D212Y	ENSP00000322156:D212Y	D	+	1	0	OR51L1	4977422	0.980000	0.34600	0.999000	0.59377	0.769000	0.43574	3.555000	0.53727	2.685000	0.91497	0.557000	0.71058	GAT			0.418	OR51L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000142812.1		NM_001004755	
PC	5091	mdanderson.org	37	11	66616790	66616790	+	Missense_Mutation	SNP	C	C	T	rs527559823		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:66616790C>T	ENST00000393958.2	-	21	3292	c.3199G>A	c.(3199-3201)Gac>Aac	p.D1067N	PC_ENST00000528224.1_5'UTR|PC_ENST00000529047.1_Missense_Mutation_p.D187N|PC_ENST00000393955.2_Missense_Mutation_p.D1067N|PC_ENST00000393960.1_Missense_Mutation_p.D1067N	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1067					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CGGTTCAGGTCGCTCACGGCC	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19520	0.0		0.0	False		,,,				2504	0.0				p.D1067N													.	.			0			c.G3199A												43.0	46.0	45.0					11																	66616790		2200	4295	6495	SO:0001583	missense	5091	exon21			TCAGGTCGCTCAC	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3199G>A	11.37:g.66616790C>T	ENSP00000377530:p.Asp1067Asn		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	46	0.07	3	NM_000920	24	0.00	0	B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.710661	0.68730	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	D;D;D;D	0.95788	-1.64;-3.81;-3.81;-3.81	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95297	0.8474	M	0.83774	2.66	0.80722	D	1	B	0.21071	0.051	B	0.21151	0.033	D	0.93864	0.7156	10	0.87932	D	0	-49.1022	15.7742	0.78198	0.0:1.0:0.0:0.0	.	1067	P11498	PYC_HUMAN	N	187;1067;1067;1067	ENSP00000435905:D187N;ENSP00000377527:D1067N;ENSP00000377530:D1067N;ENSP00000377532:D1067N	ENSP00000377527:D1067N	D	-	1	0	PC	66373366	1.000000	0.71417	0.992000	0.48379	0.977000	0.68977	5.656000	0.67988	2.580000	0.87095	0.462000	0.41574	GAC			0.627	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000393115.1		NM_001040716	
TPCN2	219931	mdanderson.org	37	11	68830459	68830459	+	Splice_Site	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:68830459G>T	ENST00000294309.3	+	6	754		c.e6+1		TPCN2_ENST00000442692.2_Splice_Site|TPCN2_ENST00000542467.1_Splice_Site	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2						calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AAATGGCCAGGTGGGCTCTTG	0.627																																					.													.	.			0			c.653+1G>T												72.0	71.0	71.0					11																	68830459		2200	4294	6494	SO:0001630	splice_region_variant	219931	exon6			GGCCAGGTGGGCT	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.653+1G>T	11.37:g.68830459G>T			Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_139075	3	0.00	0	Q9NT82	Splice_Site	SNP	ENST00000294309.3	37	CCDS8189.1	.	.	.	.	.	.	.	.	.	.	g	19.26	3.794340	0.70452	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0299	0.86458	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TPCN2	68587035	1.000000	0.71417	0.990000	0.47175	0.817000	0.46193	7.641000	0.83368	2.118000	0.64928	0.550000	0.68814	.			0.627	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000396878.2		NM_139075	Intron
IGSF9B	22997	mdanderson.org	37	11	133807352	133807352	+	Silent	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr11:133807352G>T	ENST00000321016.8	-	5	828	c.598C>A	c.(598-600)Cgg>Agg	p.R200R	IGSF9B_ENST00000533871.2_Silent_p.R200R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	200	Ig-like 2.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTGTCCTCCCGACTGACCGAT	0.607																																					p.R200R													.	.			0			c.C598A												68.0	77.0	74.0					11																	133807352		2159	4240	6399	SO:0001819	synonymous_variant	22997	exon5			CCTCCCGACTGAC	AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.598C>A	11.37:g.133807352G>T			Somatic	95	0	0		WXS	Illumina HiSeq	Phase_I	36	0.08	3	NM_014987	1	0.00	0	G5EA26	Silent	SNP	ENST00000321016.8	37																																																																																						0.607	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				XM_290502	
PRMT8	56341	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	3701426	3701426	+	Missense_Mutation	SNP	C	C	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:3701426C>A	ENST00000382622.3	+	9	1399	c.1009C>A	c.(1009-1011)Cag>Aag	p.Q337K	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Q328K	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	337	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CCACTGGAAGCAGACCGTCTT	0.537																																					p.Q337K													PRMT8_ENST00000452611,NS,carcinoma,-2,2	PRMT8_ENST00000452611	-2	2	0			c.C1009A												188.0	188.0	188.0					12																	3701426		2203	4300	6503	SO:0001583	missense	56341	exon9			TGGAAGCAGACCG	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1009C>A	12.37:g.3701426C>A	ENSP00000372067:p.Gln337Lys		Somatic	57	0	0		WXS	Illumina HiSeq	.	110	0.15	17	NM_019854	1	1.00	1	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932617	0.92458	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	D;D	0.86497	-2.13;-2.13	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95943	0.8679	H	0.97611	4.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.97450	1.0027	10	0.87932	D	0	.	16.3206	0.82950	0.0:1.0:0.0:0.0	.	328;337	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	K	328;337	ENSP00000414507:Q328K;ENSP00000372067:Q337K	ENSP00000372067:Q337K	Q	+	1	0	PRMT8	3571687	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.729000	0.84864	2.440000	0.82611	0.561000	0.74099	CAG			0.537	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250297.2		NM_019854	
FAM186A	121006	broad.mit.edu	37	12	50747102	50747102	+	Silent	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:50747102A>G	ENST00000327337.5	-	4	3512	c.3513T>C	c.(3511-3513)ctT>ctC	p.L1171L	FAM186A_ENST00000543096.1_5'Flank|FAM186A_ENST00000543111.1_Silent_p.L1171L	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	1171								p.L1171L(2)									GCTGAGGGGTAAGAGGGATCC	0.642																																					p.L1171L	NSCLC(138;1796 1887 12511 19463 37884)												FAM186A_ENST00000327337,NS,carcinoma,0,3	FAM186A	181	3	2	Substitution - coding silent(2)	endometrium(2)	c.T3513C												28.0	25.0	26.0					12																	50747102		692	1591	2283	SO:0001819	synonymous_variant	121006	exon4			AGGGGTAAGAGGG		CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.3513T>C	12.37:g.50747102A>G			Somatic	131	0.0229007634	3		WXS	Illumina HiSeq	Phase_I	171	0.03	5	NM_001145475	0		0		Silent	SNP	ENST00000327337.5	37	CCDS44878.1																																																																																					0.642	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000396838.1		XM_001718353	
CALCOCO1	57658	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	54108460	54108460	+	Silent	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:54108460A>G	ENST00000550804.1	-	11	1464	c.1404T>C	c.(1402-1404)agT>agC	p.S468S	CALCOCO1_ENST00000548263.1_Silent_p.S468S|CALCOCO1_ENST00000430117.2_Silent_p.S383S|CALCOCO1_ENST00000262059.4_Silent_p.S468S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	468					intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GCTCCCGCTTACTTTCTGACA	0.547																																					p.S468S													.	.			0			c.T1404C												73.0	65.0	67.0					12																	54108460		2203	4300	6503	SO:0001819	synonymous_variant	57658	exon11			CCGCTTACTTTCT	AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1404T>C	12.37:g.54108460A>G			Somatic	78	0	0		WXS	Illumina HiSeq	.	88	0.22	19	NM_020898	42	0.26	11	B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Silent	SNP	ENST00000550804.1	37	CCDS8864.1																																																																																					0.547	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000407233.2		NM_020898	
SARNP	84324	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	56154395	56154395	+	Silent	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:56154395C>T	ENST00000336133.3	-	10	585	c.531G>A	c.(529-531)agG>agA	p.R177R	RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.E490K|SARNP_ENST00000552080.1_Silent_p.R177R|SARNP_ENST00000444631.2_Silent_p.R117R|RP11-762I7.4_ENST00000547009.1_RNA	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	177					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						ATCGCTCCTTCCTCTTTTTCA	0.413																																					p.R177R													.	.			0			c.G531A												141.0	131.0	134.0					12																	56154395		2203	4300	6503	SO:0001819	synonymous_variant	84324	exon10			CTCCTTCCTCTTT	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.531G>A	12.37:g.56154395C>T			Somatic	133	0	0		WXS	Illumina HiSeq	.	166	0.23	38	NM_033082	863	0.26	223	A8K393|Q9P066	Silent	SNP	ENST00000336133.3	37	CCDS8892.1	.	.	.	.	.	.	.	.	.	.	C	10.45	1.352418	0.24512	.	.	ENSG00000257390	ENST00000546837	.	.	.	5.72	4.84	0.62591	.	.	.	.	.	T	0.64505	0.2604	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63484	-0.6627	4	.	.	.	-1.5412	12.8382	0.57786	0.0:0.9208:0.0:0.0792	.	.	.	.	K	490	.	.	E	-	1	0	RP11-762I7.5	54440662	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.031000	0.49728	1.577000	0.49804	0.650000	0.86243	GAA			0.413	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000409159.2		NM_033082	
Unknown	0	bcgsc.ca	37	12	58361026	58361026	+	IGR	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:58361026G>A								XRCC6BP1 (9974 upstream) : RN7SKP65 (10721 downstream)																							AAAAAAAAAAGAAAAAAAGCC	0.423																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			AAAAAAGAAAAAA																													12.37:g.58361026G>A			Somatic	35	0	0		WXS	Illumina HiSeq	Phase_1	48	0.13	6	.	0		0		RNA	SNP		37																																																																																					0	0.423										
Unknown	0	bcgsc.ca	37	12	68868222	68868222	+	IGR	SNP	A	A	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:68868222A>C								RP11-71J4.2 (124483 upstream) : RAP1B (136396 downstream)																							TGGATGAAATAGATGCTATTG	0.368																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TGAAATAGATGCT																													12.37:g.68868222A>C			Somatic	70	0	0		WXS	Illumina HiSeq	Phase_1	95	0.12	11	.	0		0		RNA	SNP		37																																																																																					0	0.368										
APAF1	317	broad.mit.edu	37	12	99052954	99052954	+	Silent	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:99052954A>G	ENST00000551964.1	+	5	1279	c.543A>G	c.(541-543)ggA>ggG	p.G181G	APAF1_ENST00000552268.1_Silent_p.G181G|APAF1_ENST00000359972.2_Silent_p.G170G|APAF1_ENST00000550527.1_Silent_p.G170G|APAF1_ENST00000333991.1_Silent_p.G181G|APAF1_ENST00000339433.3_Silent_p.G181G|APAF1_ENST00000357310.1_Silent_p.G181G|APAF1_ENST00000549007.1_Silent_p.G181G|APAF1_ENST00000547045.1_Silent_p.G181G	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	181	NB-ARC.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TCCCAGGGGGAGTGCATTGGG	0.423																																					p.G181G													.	APAF1	111		0			c.A543G												122.0	125.0	124.0					12																	99052954		2203	4300	6503	SO:0001819	synonymous_variant	317	exon5			AGGGGGAGTGCAT	AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.543A>G	12.37:g.99052954A>G			Somatic	162	0	0		WXS	Illumina HiSeq	Phase_I	149	0.03	4	NM_181868	0		0	B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	ENST00000551964.1	37	CCDS9069.1																																																																																					0.423	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000408006.1		NM_181861.1	
POLR3B	55703	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	106857290	106857290	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:106857290G>C	ENST00000228347.4	+	23	2827	c.2605G>C	c.(2605-2607)Gtg>Ctg	p.V869L	POLR3B_ENST00000539066.1_Missense_Mutation_p.V811L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	869					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TATTGAAAAAGTGATGATATC	0.403																																					p.V869L													.	.			0			c.G2605C												73.0	71.0	72.0					12																	106857290		2203	4300	6503	SO:0001583	missense	55703	exon23			GAAAAAGTGATGA	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2605G>C	12.37:g.106857290G>C	ENSP00000228347:p.Val869Leu		Somatic	191	0	0		WXS	Illumina HiSeq	.	218	0.22	47	NM_018082	17	0.18	3	A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	ENST00000228347.4	37	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	G	33	5.244428	0.95272	.	.	ENSG00000013503	ENST00000228347;ENST00000539066	D;D	0.81908	-1.55;-1.55	5.73	5.73	0.89815	RNA polymerase Rpb2, OB-fold (1);DNA-directed RNA polymerase, subunit 2, domain 6 (1);	0.000000	0.85682	D	0.000000	D	0.91573	0.7338	M	0.88105	2.93	0.80722	D	1	P	0.45902	0.868	P	0.55087	0.768	D	0.92408	0.5935	10	0.87932	D	0	-23.3381	19.8984	0.96975	0.0:0.0:1.0:0.0	.	869	Q9NW08	RPC2_HUMAN	L	869;811	ENSP00000228347:V869L;ENSP00000445721:V811L	ENSP00000228347:V869L	V	+	1	0	POLR3B	105381420	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	9.827000	0.99397	2.712000	0.92718	0.555000	0.69702	GTG			0.403	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000407166.1		NM_018082	
NOS1	4842	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	117657988	117657988	+	Silent	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:117657988A>G	ENST00000338101.4	-	27	4168	c.4164T>C	c.(4162-4164)tgT>tgC	p.C1388C	NOS1_ENST00000317775.6_Silent_p.C1354C|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGACGTCCCCACAGACGTATA	0.602																																					p.C1388C	Esophageal Squamous(162;1748 2599 51982 52956)												.	.			0			c.T4164C												141.0	152.0	148.0					12																	117657988		2199	4299	6498	SO:0001819	synonymous_variant	4842	exon28			GTCCCCACAGACG		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.4164T>C	12.37:g.117657988A>G			Somatic	60	0	0		WXS	Illumina HiSeq	.	64	0.30	19	NM_001204218	0		0		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																					0.602	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000268053.1			
RPLP0	6175	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	12	120637146	120637146	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr12:120637146C>G	ENST00000551150.1	-	2	512	c.197G>C	c.(196-198)cGa>cCa	p.R66P	PXN-AS1_ENST00000539446.1_RNA|RPLP0_ENST00000392514.4_Missense_Mutation_p.R66P|RPLP0_ENST00000228306.4_Missense_Mutation_p.R66P|RPLP0_ENST00000550296.1_5'UTR|PXN-AS1_ENST00000535200.1_RNA|RPLP0_ENST00000552292.1_5'Flank|PXN-AS1_ENST00000542314.1_RNA|PXN-AS1_ENST00000542265.1_RNA|RPLP0_ENST00000313104.5_Missense_Mutation_p.R66P|PXN-AS1_ENST00000538804.1_RNA|RPLP0_ENST00000546989.1_Missense_Mutation_p.R66P			P05388	RLA0_HUMAN	ribosomal protein, large, P0	66					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CAGGTGCCCTCGGATGGCCTT	0.582																																					p.R66P													.	.			0			c.G197C												116.0	114.0	115.0					12																	120637146		2203	4300	6503	SO:0001583	missense	6175	exon3			TGCCCTCGGATGG	AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.197G>C	12.37:g.120637146C>G	ENSP00000449328:p.Arg66Pro		Somatic	98	0	0		WXS	Illumina HiSeq	.	134	0.20	27	NM_053275	5417	0.16	859	Q3B7A4|Q9BVK4	Missense_Mutation	SNP	ENST00000551150.1	37	CCDS9193.1	.	.	.	.	.	.	.	.	.	.	C	35	5.503907	0.96371	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990;ENST00000547211;ENST00000550856;ENST00000547191;ENST00000550423;ENST00000551914	T;T;T;T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.46	5.46	0.80206	.	0.000000	0.85682	U	0.000000	T	0.77909	0.4201	H	0.96662	3.86	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.83275	0.99;0.996	D	0.85614	0.1260	10	0.87932	D	0	.	19.3132	0.94199	0.0:1.0:0.0:0.0	.	66;66	Q3B7A4;P05388	.;RLA0_HUMAN	P	66;66;66;66;66;66;46;66;52;52;66	ENSP00000376299:R66P;ENSP00000449328:R66P;ENSP00000366471:R66P;ENSP00000449205:R66P;ENSP00000339027:R66P;ENSP00000447311:R66P;ENSP00000449854:R46P;ENSP00000448046:R66P;ENSP00000450121:R52P;ENSP00000449765:R52P;ENSP00000448223:R66P	ENSP00000339027:R66P	R	-	2	0	RPLP0	119121529	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.587000	0.87381	0.655000	0.94253	CGA			0.582	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000403448.3		NM_053275	
NALCN-AS1	100885778	broad.mit.edu	37	13	101408785	101408785	+	RNA	DEL	G	G	-			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr13:101408785delG	ENST00000457843.1	+	0	141					NR_047687.1				NALCN antisense RNA 1																		AAATGTCCCTGGTTAGATATC	0.378																																					.													.	.			0			.																																											0	.			GTCCCTGGTTAGA			13q33.1	2013-09-09	2012-08-15		ENSG00000233009	ENSG00000233009		"""Long non-coding RNAs"""	42743	non-coding RNA	RNA, long non-coding			"""NALCN antisense RNA 1 (non-protein coding)"""				Standard	NR_047687		Approved		uc031qnb.1		OTTHUMG00000017294		13.37:g.101408785delG			Somatic	5	0	0		WXS	Illumina HiSeq	Phase_I	6	0.33	2	.	0		0		RNA	DEL	ENST00000457843.1	37																																																																																						0.378	NALCN-AS1-001	KNOWN	basic	antisense	antisense		OTTHUMT00000045662.1			
SPTB	6710	hgsc.bcm.edu	37	14	65242042	65242042	+	Missense_Mutation	SNP	G	G	A	rs377634587		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr14:65242042G>A	ENST00000389721.5	-	22	4675	c.4643C>T	c.(4642-4644)gCg>gTg	p.A1548V	SPTB_ENST00000389722.3_Missense_Mutation_p.A1548V|SPTB_ENST00000389720.3_Missense_Mutation_p.A1548V|SPTB_ENST00000542895.1_Missense_Mutation_p.A1548V|SPTB_ENST00000556626.1_Missense_Mutation_p.A1548V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1548					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.A1548V(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTCGATCTCCGCCGCCTCCAC	0.672																																					p.A1548V													SPTB_ENST00000542895,colon,carcinoma,+1,3	SPTB_ENST00000542895	1	3	1	Substitution - Missense(1)	central_nervous_system(1)	c.C4643T							G	VAL/ALA,VAL/ALA	0,4406		0,0,2203	32.0	26.0	28.0		4643,4643	4.2	0.2	14		28	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SPTB	NM_000347.5,NM_001024858.2	64,64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	1548/2138,1548/2329	65242042	1,13005	2203	4300	6503	SO:0001583	missense	6710	exon22			ATCTCCGCCGCCT		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4643C>T	14.37:g.65242042G>A	ENSP00000374371:p.Ala1548Val		Somatic	82	0	0		WXS	Illumina HiSeq	.	97	0.04	4	NM_001024858	3	0.00	0	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	G	13.73	2.323688	0.41096	0.0	1.16E-4	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.50001	0.76;0.76;0.76;0.76;0.76;0.76	5.06	4.17	0.49024	.	0.056284	0.64402	D	0.000001	T	0.64327	0.2588	M	0.62723	1.935	0.58432	D	0.999999	D;B;B	0.69078	0.997;0.174;0.325	D;B;B	0.66979	0.948;0.153;0.108	T	0.68880	-0.5292	10	0.87932	D	0	.	14.8331	0.70162	0.0:0.145:0.855:0.0	.	332;1548;1552	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	V	1552;1548;332;213;1548;1548;1548;1548	ENSP00000374372:A1548V;ENSP00000451324:A213V;ENSP00000451752:A1548V;ENSP00000374371:A1548V;ENSP00000443882:A1548V;ENSP00000374370:A1548V	ENSP00000334218:A332V	A	-	2	0	SPTB	64311795	0.000000	0.05858	0.153000	0.22517	0.453000	0.32348	0.470000	0.22084	1.240000	0.43803	0.561000	0.74099	GCG			0.672	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000414080.1			
ZFYVE26	23503	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	14	68282599	68282599	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr14:68282599C>T	ENST00000347230.4	-	2	220	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E28K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	28					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGCTCCCATTCTCCCCTCCGC	0.507																																					p.E28K													.	.			0			c.G82A												106.0	91.0	96.0					14																	68282599		2203	4300	6503	SO:0001583	missense	23503	exon2			CCCATTCTCCCCT	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.82G>A	14.37:g.68282599C>T	ENSP00000251119:p.Glu28Lys		Somatic	101	0	0		WXS	Illumina HiSeq	.	127	0.31	40	NM_015346	0		0	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	ENST00000347230.4	37	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	19.05	3.752077	0.69533	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	T;T	0.30714	1.67;1.52	5.99	5.09	0.68999	.	0.533478	0.21826	N	0.068557	T	0.29652	0.0740	L	0.50333	1.59	0.35451	D	0.795714	P;B;B	0.35575	0.51;0.328;0.22	B;B;B	0.36666	0.23;0.178;0.024	T	0.43410	-0.9393	10	0.59425	D	0.04	-1.8959	10.046	0.42186	0.0:0.6484:0.2812:0.0705	.	28;28;28	Q68DK2-4;G3V2D8;Q68DK2	.;.;ZFY26_HUMAN	K	28	ENSP00000251119:E28K;ENSP00000450603:E28K	ENSP00000251119:E28K	E	-	1	0	ZFYVE26	67352352	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	2.183000	0.42565	1.500000	0.48636	0.655000	0.94253	GAA			0.507	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000412736.2		NM_015346	
SPTBN5	51332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	42143126	42143126	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:42143126C>T	ENST00000320955.6	-	66	11074	c.10847G>A	c.(10846-10848)gGg>gAg	p.G3616E	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3616	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATCTCTGCCCCACTGGTCAG	0.672																																					p.G3581E													.	.			0			c.G10742A												24.0	30.0	28.0					15																	42143126		2170	4270	6440	SO:0001583	missense	51332	exon66			TCTGCCCCACTGG	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10847G>A	15.37:g.42143126C>T	ENSP00000317790:p.Gly3616Glu		Somatic	158	0	0		WXS	Illumina HiSeq	.	101	0.38	38	NM_016642	3	0.00	0		Missense_Mutation	SNP	ENST00000320955.6	37		.	.	.	.	.	.	.	.	.	.	.	9.207	1.029911	0.19512	.	.	ENSG00000137877	ENST00000320955	T	0.34859	1.34	3.52	-1.0	0.10196	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.631105	0.14287	N	0.329165	T	0.25865	0.0630	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.22906	-1.0203	10	0.21540	T	0.41	.	5.0846	0.14675	0.0:0.4104:0.363:0.2266	.	3616	Q9NRC6	SPTN5_HUMAN	E	3616	ENSP00000317790:G3616E	ENSP00000317790:G3616E	G	-	2	0	SPTBN5	39930418	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.290000	0.08354	-0.179000	0.10654	0.561000	0.74099	GGG			0.672	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000420237.1		NM_016642	
STRA6	64220	broad.mit.edu	37	15	74476251	74476252	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:74476251_74476252insT	ENST00000323940.5	-	14	1490_1491	c.1245_1246insA	c.(1243-1248)caagccfs	p.A416fs	STRA6_ENST00000535552.1_Frame_Shift_Ins_p.A453fs|STRA6_ENST00000563965.1_Frame_Shift_Ins_p.A455fs|STRA6_ENST00000574278.1_Frame_Shift_Ins_p.A431fs|STRA6_ENST00000395105.4_Frame_Shift_Ins_p.A416fs|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Frame_Shift_Ins_p.A408fs|STRA6_ENST00000449139.2_Frame_Shift_Ins_p.A416fs|STRA6_ENST00000423167.2_Frame_Shift_Ins_p.A407fs	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	416					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CAGAATATGGCTTGGCGGGAGG	0.634																																					p.A455fs													.	STRA6	66		0			c.1363_1364insA																																									SO:0001589	frameshift_variant	64220	exon14			ATATGGCTTGGCG	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1246dupA	15.37:g.74476253_74476253dupT	ENSP00000326085:p.Ala416fs		Somatic	94	0	0		WXS	Illumina HiSeq	Phase_I	66	0.15	10	NM_001199042	29	0.00	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Frame_Shift_Ins	INS	ENST00000323940.5	37	CCDS10261.1																																																																																					0.634	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272891.1			
STRA6	64220	mdanderson.org	37	15	74477381	74477381	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:74477381G>T	ENST00000323940.5	-	13	1351	c.1106C>A	c.(1105-1107)gCc>gAc	p.A369D	STRA6_ENST00000535552.1_Missense_Mutation_p.A406D|STRA6_ENST00000563965.1_Missense_Mutation_p.A408D|STRA6_ENST00000574278.1_Missense_Mutation_p.A384D|STRA6_ENST00000395105.4_Missense_Mutation_p.A369D|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000416286.3_Missense_Mutation_p.A361D|STRA6_ENST00000449139.2_Missense_Mutation_p.A369D|STRA6_ENST00000423167.2_Missense_Mutation_p.A360D	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	369					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						CAAGACCAAGGCTGAGATGTA	0.597																																					p.A408D													.	.			0			c.C1223A												189.0	163.0	172.0					15																	74477381		2198	4297	6495	SO:0001583	missense	64220	exon13			ACCAAGGCTGAGA	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1106C>A	15.37:g.74477381G>T	ENSP00000326085:p.Ala369Asp		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_001199042	40	0.00	0	A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Missense_Mutation	SNP	ENST00000323940.5	37	CCDS10261.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.523131	0.85600	.	.	ENSG00000137868	ENST00000395105;ENST00000323940;ENST00000416286;ENST00000545137;ENST00000449139;ENST00000423167;ENST00000535552;ENST00000536129	D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64	5.0	5.0	0.66597	.	0.051939	0.85682	D	0.000000	D	0.90734	0.7092	M	0.74258	2.255	0.80722	D	1	D;D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;D	0.74348	0.983;0.983;0.976;0.976;0.983;0.94	D	0.91761	0.5420	10	0.66056	D	0.02	-33.3689	17.9099	0.88930	0.0:0.0:1.0:0.0	.	406;407;360;369;408;178	F5GYI8;B7Z5G7;Q9BX79-3;Q9BX79;Q9BX79-4;B3KRT6	.;.;.;STRA6_HUMAN;.;.	D	369;369;301;178;408;360;406;259	ENSP00000378537:A369D;ENSP00000326085:A369D;ENSP00000413012:A360D;ENSP00000440238:A406D	ENSP00000326085:A369D	A	-	2	0	STRA6	72264434	1.000000	0.71417	0.896000	0.35187	0.962000	0.63368	6.497000	0.73674	2.312000	0.78011	0.561000	0.74099	GCC			0.597	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000272891.1			
CSK	1445	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	15	75094846	75094846	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr15:75094846C>T	ENST00000220003.9	+	13	2074	c.1345C>T	c.(1345-1347)Cac>Tac	p.H449Y	CSK_ENST00000309470.9_Missense_Mutation_p.H449Y|CSK_ENST00000439220.2_Missense_Mutation_p.H449Y|CSK_ENST00000567571.1_Missense_Mutation_p.H449Y	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	449	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						CCACGAGCTGCACCTGTGACG	0.622																																					p.H449Y													.	CSK	43		0			c.C1345T												54.0	55.0	54.0					15																	75094846		2197	4296	6493	SO:0001583	missense	1445	exon14			GAGCTGCACCTGT		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.1345C>T	15.37:g.75094846C>T	ENSP00000220003:p.His449Tyr		Somatic	87	0.0114942529	1		WXS	Illumina HiSeq	Phase_I	55	0.40	22	NM_001127190	233	0.42	99	Q2M3N2|Q6FGZ6	Missense_Mutation	SNP	ENST00000220003.9	37	CCDS10269.1	.	.	.	.	.	.	.	.	.	.	C	1.690	-0.504183	0.04261	.	.	ENSG00000103653	ENST00000220003;ENST00000439220;ENST00000451345;ENST00000309470	T;T;T	0.74947	-0.89;-0.89;-0.89	4.38	4.38	0.52667	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.572245	0.19187	N	0.120506	T	0.54532	0.1864	L	0.29908	0.895	0.31002	N	0.720205	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	10	0.06236	T	0.91	-19.8479	6.5311	0.22328	0.0:0.8021:0.0:0.1979	.	449	P41240	CSK_HUMAN	Y	449;449;398;449	ENSP00000220003:H449Y;ENSP00000414764:H449Y;ENSP00000438808:H449Y	ENSP00000220003:H449Y	H	+	1	0	CSK	72881899	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	2.380000	0.44327	2.277000	0.76020	0.563000	0.77884	CAC			0.622	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000286398.2		NM_004383	
MAPK8IP3	23162	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	16	1818243	1818243	+	Silent	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr16:1818243G>A	ENST00000250894.4	+	30	3760	c.3603G>A	c.(3601-3603)ggG>ggA	p.G1201G	MAPK8IP3_ENST00000356010.5_Silent_p.G1195G	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1201					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCCGTCCCGGGGGCATCATCC	0.647																																					p.G1201G													MAPK8IP3_ENST00000250894,colon,carcinoma,+2,2	MAPK8IP3_ENST00000250894	2	2	0			c.G3603A												63.0	72.0	69.0					16																	1818243		2108	4223	6331	SO:0001819	synonymous_variant	23162	exon30			TCCCGGGGGCATC	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3603G>A	16.37:g.1818243G>A			Somatic	43	0	0		WXS	Illumina HiSeq	.	53	0.11	6	NM_015133	49	0.24	12	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	ENST00000250894.4	37	CCDS10442.2																																																																																					0.647	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250508.2		NM_001040439	
NLRC3	197358	mdanderson.org	37	16	3614976	3614976	+	RNA	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr16:3614976G>T	ENST00000301749.7	-	0	467				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCTCGGCTGGGGAGCCCGT	0.682																																					p.P21Q													.	.			0			c.C62A												19.0	24.0	22.0					16																	3614976		1925	4123	6048			197358	exon4			TCGGCTGGGGAGC	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614976G>T			Somatic	61	0	0		WXS	Illumina HiSeq	Phase_I	48	0.08	4	NM_178844	0		0	Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	Missense_Mutation	SNP	ENST00000301749.7	37		.	.	.	.	.	.	.	.	.	.	G	13.98	2.397928	0.42512	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.80824	-0.51;-0.55;-0.5;-1.42	4.96	4.0	0.46444	.	0.222922	0.34932	N	0.003565	D	0.82577	0.5067	.	.	.	0.23156	N	0.998203	D	0.62365	0.991	P	0.55161	0.77	T	0.74607	-0.3609	9	0.54805	T	0.06	.	10.3914	0.44171	0.0956:0.0:0.9044:0.0	.	68	C9JLH9	.	Q	21;21;21;68;38	ENSP00000301749:P21Q;ENSP00000352039:P21Q;ENSP00000414415:P68Q;ENSP00000323897:P38Q	ENSP00000301749:P21Q	P	-	2	0	NLRC3	3554977	0.270000	0.24152	0.974000	0.42286	0.556000	0.35491	1.297000	0.33400	2.320000	0.78422	0.650000	0.86243	CCA			0.682	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene				NM_178844	
NUP93	9688	mdanderson.org	37	16	56855496	56855496	+	Silent	SNP	C	C	T	rs2118017	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr16:56855496C>T	ENST00000308159.5	+	7	766	c.645C>T	c.(643-645)ctC>ctT	p.L215L	NUP93_ENST00000569842.1_Silent_p.L215L|NUP93_ENST00000564887.1_Silent_p.L92L|NUP93_ENST00000542526.1_Silent_p.L92L	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	215					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCGCAGAGCTCGATGATAAGG	0.453																																					p.L215L	Colon(33;610 796 1305 1705 38917)												.	.			0			c.C645T												73.0	74.0	74.0					16																	56855496		2198	4300	6498	SO:0001819	synonymous_variant	9688	exon7			AGAGCTCGATGAT	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.645C>T	16.37:g.56855496C>T			Somatic	115	0	0		WXS	Illumina HiSeq	Phase_I	107	0.03	3	NM_014669	116	0.00	0	B3KPQ8|Q14705	Silent	SNP	ENST00000308159.5	37	CCDS10769.1																																																																																					0.453	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257058.4		NM_014669	
WRAP53	55135	mdanderson.org	37	17	7606661	7606661	+	Silent	SNP	T	T	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:7606661T>C	ENST00000316024.5	+	10	3852	c.1504T>C	c.(1504-1506)Ttg>Ctg	p.L502L	EFNB3_ENST00000226091.2_5'Flank|WRAP53_ENST00000431639.2_Silent_p.L502L|WRAP53_ENST00000457584.2_Silent_p.L502L|WRAP53_ENST00000534050.1_Silent_p.L469L|WRAP53_ENST00000396463.2_Silent_p.L502L			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	502					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GGGCCTTCCCTTGCTCTCCAC	0.642																																					p.L502L													.	.			0			c.T1504C												89.0	71.0	77.0					17																	7606661		2203	4300	6503	SO:0001819	synonymous_variant	55135	exon11			CTTCCCTTGCTCT	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.1504T>C	17.37:g.7606661T>C			Somatic	43	0	0		WXS	Illumina HiSeq	Phase_I	58	0.05	3	NM_001143991	239	0.00	1	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Silent	SNP	ENST00000316024.5	37	CCDS11119.1																																																																																					0.642	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000259385.2		NM_018081	
TVP23C	201158	ucsc.edu	37	17	15457087	15457087	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:15457087C>T	ENST00000225576.3	-	3	247	c.152G>A	c.(151-153)tGt>tAt	p.C51Y	TVP23C_ENST00000518321.1_Missense_Mutation_p.C51Y|TVP23C-CDRT4_ENST00000522212.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000438826.3_Missense_Mutation_p.C51Y|TVP23C_ENST00000428082.2_Missense_Mutation_p.C51Y|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_5'UTR	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)	51						integral component of membrane (GO:0016021)											ACAGAGAAGACAGACGATGAT	0.373																																					p.C51Y													.	.			0			c.G152A												274.0	265.0	268.0					17																	15457087		2203	4300	6503	SO:0001583	missense	0	exon3			AGAAGACAGACGA	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.152G>A	17.37:g.15457087C>T	ENSP00000225576:p.Cys51Tyr		Somatic	268	0.0634328358	17		RNA-Seq	Illumina HiSeq		229	0.05	12	NM_145301	35	0.51	18	Q3LIC7	Missense_Mutation	SNP	ENST00000225576.3	37	CCDS11170.1	.	.	.	.	.	.	.	.	.	.	.	2.368	-0.344949	0.05208	.	.	ENSG00000259024;ENSG00000175106;ENSG00000175106;ENSG00000175106	ENST00000522212;ENST00000225576;ENST00000428082;ENST00000438826	T;T;T;T	0.25749	1.78;1.78;1.78;1.78	4.47	4.47	0.54385	.	0.000000	0.85682	N	0.000000	T	0.02571	0.0078	N	0.00004	-3.335	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.0;0.0;0.002	T	0.38457	-0.9660	10	0.02654	T	1	-3.8701	9.492	0.38965	0.0:0.0877:0.0:0.9123	.	51;51;51	Q96ET8-2;Q96ET8-3;Q96ET8	.;.;F18B2_HUMAN	Y	51	ENSP00000429865:C51Y;ENSP00000225576:C51Y;ENSP00000406387:C51Y;ENSP00000413355:C51Y	ENSP00000225576:C51Y	C	-	2	0	RP11-726O12.1;FAM18B2	15397812	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	6.178000	0.71968	0.670000	0.31165	-0.442000	0.05670	TGT			0.373	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000130705.2		NM_145301	
TRPV2	51393	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	17	16342606	16342606	+	IGR	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:16342606G>T	ENST00000338560.7	+	0	2808				C17orf76-AS1_ENST00000365172.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000391079.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000384229.1_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000475953.1_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2						calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCCGGCTGCCGTGGCTGAGGC	0.716																																					.													.	.			0			.												26.0	34.0	31.0					17																	16342606		2191	4291	6482	SO:0001628	intergenic_variant	125144	.			GCTGCCGTGGCTG	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989		17.37:g.16342606G>T			Somatic	153	0	0		WXS	Illumina HiSeq	.	133	0.16	21	.	11	0.00	0	A6NML2|A8K0Z0|Q9Y670	RNA	SNP	ENST00000338560.7	37	CCDS32576.1																																																																																					0.716	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000130464.2		NM_016113	
KRTAP4-9	100132386	broad.mit.edu	37	17	39262096	39262096	+	Silent	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39262096C>T	ENST00000391415.1	+	1	513	c.456C>T	c.(454-456)ccC>ccT	p.P152P		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	152	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgccgccccagctgcagca	0.672																																					p.P152P													.	KRTAP4-9	110		0			c.C456T												5.0	8.0	7.0					17																	39262096		674	1562	2236	SO:0001819	synonymous_variant	100132386	exon1			CCGCCCCAGCTGC	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.456C>T	17.37:g.39262096C>T			Somatic	46	0.0217391304	1		WXS	Illumina HiSeq	Phase_I	53	0.09	5	NM_001146041	0		0		Silent	SNP	ENST00000391415.1	37	CCDS54124.1																																																																																					0.672	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257688.1		NM_001146041	
KRT38	8687	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	39594811	39594811	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39594811A>G	ENST00000246646.3	-	5	951	c.952T>C	c.(952-954)Tcg>Ccg	p.S318P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	318	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				AGGATCTCCGACTGGCAGCAC	0.602																																					p.S318P													KRT38,mouth,carcinoma,+1,1	KRT38	1	1	0			c.T952C												121.0	95.0	104.0					17																	39594811		2203	4300	6503	SO:0001583	missense	8687	exon5			TCTCCGACTGGCA	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.952T>C	17.37:g.39594811A>G	ENSP00000246646:p.Ser318Pro		Somatic	138	0	0		WXS	Illumina HiSeq	.	124	0.27	34	NM_006771	0		0	A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	.	16.70	3.196662	0.58126	.	.	ENSG00000171360	ENST00000246646	D	0.89485	-2.52	4.37	0.695	0.18070	Filament (1);	0.336095	0.21670	N	0.070900	D	0.93871	0.8039	M	0.92970	3.365	0.09310	N	1	D	0.89917	1.0	D	0.77557	0.99	D	0.85800	0.1373	10	0.87932	D	0	.	4.5938	0.12320	0.4967:0.3171:0.1862:0.0	.	318	O76015	KRT38_HUMAN	P	318	ENSP00000246646:S318P	ENSP00000246646:S318P	S	-	1	0	KRT38	36848337	0.000000	0.05858	0.994000	0.49952	0.989000	0.77384	-1.754000	0.01816	-0.064000	0.13043	0.529000	0.55759	TCG			0.602	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257307.2		NM_006771	
KRT9	3857	broad.mit.edu	37	17	39723690	39723690	+	Silent	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39723690C>T	ENST00000246662.4	-	7	1772	c.1707G>A	c.(1705-1707)ggG>ggA	p.G569G	KRT9_ENST00000588431.1_Silent_p.G336G	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	569	Tail.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)	p.G569G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				catagccacccccacttcctc	0.602																																					p.G569G													KRT9,NS,carcinoma,0,1	KRT9	78	1	1	Substitution - coding silent(1)	endometrium(1)	c.G1707A												238.0	173.0	195.0					17																	39723690		2182	4279	6461	SO:0001819	synonymous_variant	3857	exon7			GCCACCCCCACTT		CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1707G>A	17.37:g.39723690C>T			Somatic	320	0.003125	1		WXS	Illumina HiSeq	Phase_I	274	0.02	6	NM_000226	0		0	O00109|Q0IJ47|Q14665	Silent	SNP	ENST00000246662.4	37	CCDS32654.1																																																																																					0.602	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257707.1		NM_000226	
JUP	3728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	17	39912437	39912437	+	Silent	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr17:39912437G>A	ENST00000393931.3	-	13	2194	c.2076C>T	c.(2074-2076)ccC>ccT	p.P692P	JUP_ENST00000310706.5_Silent_p.P692P|JUP_ENST00000393930.1_Silent_p.P692P|JUP_ENST00000540235.1_Intron	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	692					adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CATCTCCATAGGGCTCATTGA	0.557																																					p.P692P	Colon(16;42 520 6044 17852 28530)												.	.			0			c.C2076T												69.0	60.0	63.0					17																	39912437		2203	4300	6503	SO:0001819	synonymous_variant	3728	exon13			TCCATAGGGCTCA	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.2076C>T	17.37:g.39912437G>A			Somatic	105	0	0		WXS	Illumina HiSeq	.	93	0.33	31	NM_021991	260	0.20	52	Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	CCDS11407.1																																																																																					0.557	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000257406.1			
TGIF1	7050	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	18	3452011	3452011	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr18:3452011G>A	ENST00000330513.5	+	1	337	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000400167.2_5'Flank|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	12					determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of cell proliferation (GO:0008285)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nodal signaling pathway (GO:0038092)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of neuron differentiation (GO:0045666)|regulation of gastrulation (GO:0010470)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GTCTGCCGGGGTGGGCTCCCC	0.657																																					p.V12M													.	.			0			c.G34A												36.0	42.0	40.0					18																	3452011		2203	4300	6503	SO:0001583	missense	7050	exon1			GCCGGGGTGGGCT	X89750	CCDS11832.1, CCDS11833.1, CCDS11834.1, CCDS11835.1	18p11.31	2011-06-20	2007-01-30	2007-01-30	ENSG00000177426	ENSG00000177426		"""Homeoboxes / TALE class"""	11776	protein-coding gene	gene with protein product		602630	"""TGFB-induced factor (TALE family homeobox)"""	HPE4, TGIF		8537382, 10835638	Standard	NM_173211		Approved		uc002klz.3	Q15583	OTTHUMG00000131511	ENST00000330513.5:c.34G>A	18.37:g.3452011G>A	ENSP00000327959:p.Val12Met		Somatic	113	0	0		WXS	Illumina HiSeq	.	79	0.49	39	NM_170695	4	0.75	3	A6NE42|A6NLU7|F8VZB6|Q6ICR0|Q8N5X9|Q9NRS0	Missense_Mutation	SNP	ENST00000330513.5	37	CCDS11834.1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774850	0.31411	.	.	ENSG00000177426	ENST00000330513	T	0.57595	0.39	3.03	2.07	0.26955	.	.	.	.	.	T	0.35219	0.0924	N	0.22421	0.69	0.19945	N	0.999947	B	0.11235	0.004	B	0.04013	0.001	T	0.29366	-1.0014	9	0.87932	D	0	1.0347	5.3786	0.16179	0.1765:0.0:0.8235:0.0	.	12	Q15583	TGIF1_HUMAN	M	12	ENSP00000327959:V12M	ENSP00000327959:V12M	V	+	1	0	TGIF1	3442011	0.030000	0.19436	0.027000	0.17364	0.031000	0.12232	-0.371000	0.07513	0.773000	0.33404	-0.345000	0.07892	GTG			0.657	TGIF1-003	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000254368.4		NM_170695	
ADNP2	22850	mdanderson.org	37	18	77875467	77875467	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr18:77875467G>T	ENST00000262198.4	+	2	497	c.42G>T	c.(40-42)aaG>aaT	p.K14N		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	14					cellular response to oxidative stress (GO:0034599)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell death (GO:0060548)|neuron differentiation (GO:0030182)|positive regulation of cell growth (GO:0030307)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACATCAGAAAGGTGCGAAAAA	0.353																																					p.K14N													.	.			0			c.G42T												95.0	89.0	91.0					18																	77875467		2203	4300	6503	SO:0001583	missense	22850	exon2			CAGAAAGGTGCGA	AB020670	CCDS32853.1	18q23	2013-01-07	2007-07-17	2007-07-17	ENSG00000101544	ENSG00000101544		"""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	23803	protein-coding gene	gene with protein product			"""zinc finger protein 508"""	ZNF508			Standard	NM_014913		Approved	KIAA0863	uc002lnw.3	Q6IQ32	OTTHUMG00000172535	ENST00000262198.4:c.42G>T	18.37:g.77875467G>T	ENSP00000262198:p.Lys14Asn		Somatic	77	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_014913	2	0.00	0	A8K951|O94943|Q9H9P3	Missense_Mutation	SNP	ENST00000262198.4	37	CCDS32853.1	.	.	.	.	.	.	.	.	.	.	G	16.07	3.019849	0.54576	.	.	ENSG00000101544	ENST00000262198	T	0.72282	-0.64	4.5	1.51	0.23008	.	0.085466	0.48286	D	0.000199	T	0.69806	0.3152	L	0.59436	1.845	0.33596	D	0.60166	P	0.50272	0.933	P	0.51324	0.666	T	0.73288	-0.4030	9	.	.	.	-26.1204	7.5243	0.27645	0.2973:0.0:0.7027:0.0	.	14	Q6IQ32	ADNP2_HUMAN	N	14	ENSP00000262198:K14N	.	K	+	3	2	ADNP2	75976458	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.200000	0.32247	0.179000	0.19938	0.467000	0.42956	AAG			0.353	ADNP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000418979.1		NM_014913	
FSD1	79187	mdanderson.org	37	19	4307981	4307981	+	Splice_Site	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:4307981G>T	ENST00000221856.6	+	4	492		c.e4+1		FSD1_ENST00000598010.1_Splice_Site|FSD1_ENST00000597590.1_Splice_Site	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1						mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTTCCTCAGGTGGGTGCCTC	0.567																																					.													.	.			0			c.345+1G>T												51.0	41.0	45.0					19																	4307981		2203	4300	6503	SO:0001630	splice_region_variant	79187	exon4			CCTCAGGTGGGTG	AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.345+1G>T	19.37:g.4307981G>T			Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	43	0.07	3	NM_024333	1	0.00	0	B2RDT0|Q9BXN0|Q9HAG4	Splice_Site	SNP	ENST00000221856.6	37	CCDS12127.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.071864	0.55646	.	.	ENSG00000105255	ENST00000221856	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9189	0.79544	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FSD1	4258981	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	8.208000	0.89748	2.354000	0.79902	0.506000	0.49869	.			0.567	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000458091.1		NM_024333	Intron
TIMM44	10469	broad.mit.edu	37	19	7997577	7997577	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:7997577G>T	ENST00000270538.3	-	9	1190	c.922C>A	c.(922-924)Ccg>Acg	p.P308T	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	308					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TCAAAGGCCGGGTCCACCCGG	0.652																																					p.P308T													.	TIMM44	47		0			c.C922A												60.0	64.0	63.0					19																	7997577		2203	4300	6503	SO:0001583	missense	10469	exon9			AGGCCGGGTCCAC	AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.922C>A	19.37:g.7997577G>T	ENSP00000270538:p.Pro308Thr		Somatic	212	0	0		WXS	Illumina HiSeq	Phase_I	146	0.03	5	NM_006351	273	0.00	0	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	ENST00000270538.3	37	CCDS12192.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414828	0.83449	.	.	ENSG00000104980	ENST00000270538	D	0.84800	-1.9	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.93041	0.7785	M	0.87682	2.9	0.80722	D	1	D	0.64830	0.994	D	0.74023	0.982	D	0.94087	0.7349	10	0.87932	D	0	-18.3684	16.2918	0.82756	0.0:0.0:1.0:0.0	.	308	O43615	TIM44_HUMAN	T	308	ENSP00000270538:P308T	ENSP00000270538:P308T	P	-	1	0	TIMM44	7903577	1.000000	0.71417	0.997000	0.53966	0.883000	0.51084	9.089000	0.94137	2.529000	0.85273	0.561000	0.74099	CCG			0.652	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000461596.3			
SIN3B	23309	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	19	16973303	16973303	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:16973303G>T	ENST00000248054.5	+	9	1220	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	SIN3B_ENST00000379803.1_Missense_Mutation_p.S400I|SIN3B_ENST00000595541.1_5'Flank					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						ATAGGATCCAGCTACCGGGCA	0.582																																					p.S400I													.	SIN3B	90		0			c.G1199T												62.0	54.0	57.0					19																	16973303		2203	4300	6503	SO:0001583	missense	23309	exon9			GATCCAGCTACCG	AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.1199G>T	19.37:g.16973303G>T	ENSP00000248054:p.Ser400Ile		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	43	0.09	4	NM_015260	14	0.00	0		Missense_Mutation	SNP	ENST00000248054.5	37		.	.	.	.	.	.	.	.	.	.	G	26.7	4.759607	0.89932	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.74106	-0.74;-0.81	4.73	4.73	0.59995	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.86957	0.6058	M	0.80422	2.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89228	0.3575	10	0.87932	D	0	-3.62	17.6866	0.88257	0.0:0.0:1.0:0.0	.	400;400	O75182-2;O75182	.;SIN3B_HUMAN	I	400	ENSP00000369131:S400I;ENSP00000248054:S400I	ENSP00000248054:S400I	S	+	2	0	SIN3B	16834303	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	9.611000	0.98342	2.179000	0.69175	0.561000	0.74099	AGC			0.582	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000462846.1		NM_015260	
MYO9B	4650	mdanderson.org	37	19	17323115	17323115	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:17323115G>T	ENST00000594824.1	+	40	6617	c.6470G>T	c.(6469-6471)gGc>gTc	p.G2157V	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2157	Tail.			NG -> MAESHS (in Ref. 3; AAC26597). {ECO:0000305}.	actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGACCAATGGCTGAGAGCCA	0.657																																					p.G2157V													.	.			0			c.G6470T												6.0	8.0	8.0					19																	17323115		1930	4087	6017	SO:0001583	missense	4650	exon40			CCAATGGCTGAGA		CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.6470G>T	19.37:g.17323115G>T	ENSP00000471367:p.Gly2157Val		Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	15	0.13	2	NM_004145	71	0.00	0	O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	ENST00000594824.1	37		.	.	.	.	.	.	.	.	.	.	G	17.29	3.352789	0.61293	.	.	ENSG00000099331	ENST00000319396	.	.	.	3.99	3.99	0.46301	.	0.164041	0.28977	N	0.013537	T	0.56645	0.1999	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59553	-0.7433	9	0.87932	D	0	.	9.2856	0.37755	0.0:0.0:0.7849:0.2151	.	2157	Q13459	MYO9B_HUMAN	V	502	.	ENSP00000314032:G502V	G	+	2	0	MYO9B	17184115	0.998000	0.40836	0.828000	0.32881	0.465000	0.32709	3.366000	0.52343	2.264000	0.75181	0.485000	0.47835	GGC			0.657	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000463236.1			
CRTC1	23373	mdanderson.org	37	19	18888142	18888142	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:18888142G>T	ENST00000321949.8	+	14	1881	c.1855G>T	c.(1855-1857)Gtt>Ttt	p.V619F	CRTC1_ENST00000594658.1_Missense_Mutation_p.V578F|CRTC1_ENST00000338797.6_Missense_Mutation_p.V635F|CRTC1_ENST00000601916.1_Missense_Mutation_p.V377F	NM_015321.2	NP_056136.2			CREB regulated transcription coactivator 1										CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCCCGACATGGTTCTGGCCGA	0.677																																					p.V635F													.	.			0			c.G1903T												183.0	194.0	190.0					19																	18888142		2203	4300	6503	SO:0001583	missense	23373	exon15			GACATGGTTCTGG	AY040323	CCDS32963.1, CCDS42525.1	19p13	2012-07-31	2005-11-24	2005-11-24					16062	protein-coding gene	gene with protein product	"""transducer of regulated cAMP response element-binding protein"""	607536	"""mucoepidermoid carcinoma translocated 1"""	MECT1		12539049, 14536081, 14506290	Standard	NM_015321		Approved	KIAA0616, FLJ14027, TORC1	uc010ebv.3	Q6UUV9		ENST00000321949.8:c.1855G>T	19.37:g.18888142G>T	ENSP00000323332:p.Val619Phe		Somatic	27	0	0		WXS	Illumina HiSeq	Phase_I	24	0.13	3	NM_001098482	45	0.00	0		Missense_Mutation	SNP	ENST00000321949.8	37	CCDS32963.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.441581	0.83993	.	.	ENSG00000105662	ENST00000338797;ENST00000321949	T;T	0.17370	2.31;2.28	3.67	3.67	0.42095	Transducer of regulated CREB activity, C-terminal (1);	0.076106	0.52532	D	0.000063	T	0.24547	0.0595	L	0.27053	0.805	0.80722	D	1	D;D	0.63046	0.992;0.958	P;P	0.62014	0.897;0.836	T	0.02603	-1.1135	9	.	.	.	-13.1031	14.5495	0.68057	0.0:0.0:1.0:0.0	.	635;619	Q6UUV9-2;Q6UUV9	.;CRTC1_HUMAN	F	635;619	ENSP00000345001:V635F;ENSP00000323332:V619F	.	V	+	1	0	CRTC1	18749142	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.399000	0.79935	1.898000	0.54952	0.467000	0.42956	GTT			0.677	CRTC1-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000465151.3		NM_025021	
SIGLEC11	114132	mdanderson.org	37	19	50453375	50453375	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr19:50453375T>C	ENST00000447370.2	-	11	2039	c.1949A>G	c.(1948-1950)cAg>cGg	p.Q650R	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.Q554R|U3_ENST00000408198.1_RNA	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	650					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CCTCAGGCCCTGGAAGCTGAG	0.682																																					p.Q650R													.	.			0			c.A1949G												35.0	36.0	36.0					19																	50453375		2202	4300	6502	SO:0001583	missense	114132	exon11			AGGCCCTGGAAGC	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1949A>G	19.37:g.50453375T>C	ENSP00000412361:p.Gln650Arg		Somatic	87	0	0		WXS	Illumina HiSeq	Phase_I	55	0.05	3	NM_052884	4	0.00	0		Missense_Mutation	SNP	ENST00000447370.2	37	CCDS12790.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	8.239|8.239	0.806443|0.806443	0.16467|0.16467	.|.	.|.	ENSG00000161640|ENSG00000161640	ENST00000447370;ENST00000458019|ENST00000426971	T|.	0.05855|.	3.38|.	3.97|3.97	-7.93|-7.93	0.01156|0.01156	.|.	1.148760|.	0.06703|.	N|.	0.771782|.	T|T	0.26195|0.26195	0.0639|0.0639	L|L	0.43152|0.43152	1.355|1.355	0.09310|0.09310	N|N	1|1	D;B|.	0.58620|.	0.983;0.289|.	P;B|.	0.45639|.	0.488;0.062|.	T|T	0.22800|0.22800	-1.0206|-1.0206	10|5	0.07482|.	T|.	0.82|.	.|.	0.9084|0.9084	0.01289|0.01289	0.326:0.2634:0.2606:0.15|0.326:0.2634:0.2606:0.15	.|.	554;650|.	Q96RL6-2;Q96RL6|.	.;SIG11_HUMAN|.	R|G	650;554|544	ENSP00000412361:Q650R|.	ENSP00000412361:Q650R|.	Q|R	-|-	2|1	0|2	SIGLEC11|SIGLEC11	55145187|55145187	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.010000|0.010000	0.07245|0.07245	-2.136000|-2.136000	0.01305|0.01305	-1.982000|-1.982000	0.00988|0.00988	-0.290000|-0.290000	0.09829|0.09829	CAG|AGG			0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000347382.1		NM_052884	
FBXO41	150726	mdanderson.org	37	2	73493772	73493772	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:73493772G>A	ENST00000521871.1	-	3	1359	c.944C>T	c.(943-945)gCg>gTg	p.A315V	FBXO41_ENST00000520530.2_Missense_Mutation_p.A315V|FBXO41_ENST00000295133.5_Missense_Mutation_p.A376V			Q8TF61	FBX41_HUMAN	F-box protein 41	315										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						CTCCCGCGCCGCCGTCTCCTT	0.672																																					p.A315V													.	.			0			c.C944T												31.0	35.0	34.0					2																	73493772		2022	4177	6199	SO:0001583	missense	150726	exon2			CGCGCCGCCGTCT	AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.944C>T	2.37:g.73493772G>A	ENSP00000428646:p.Ala315Val		Somatic	34	0	0		WXS	Illumina HiSeq	Phase_I	35	0.09	3	NM_001080410	0		0	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	ENST00000521871.1	37	CCDS46337.2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.041493	0.75732	.	.	ENSG00000163013	ENST00000295133;ENST00000521871;ENST00000520530	T;T	0.38240	1.15;1.15	5.17	5.17	0.71159	.	0.119518	0.56097	D	0.000031	T	0.56978	0.2022	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.51865	-0.8651	10	0.30078	T	0.28	.	17.2116	0.86931	0.0:0.0:1.0:0.0	.	315	Q8TF61	FBX41_HUMAN	V	376;315;376	ENSP00000295133:A376V;ENSP00000428646:A315V	ENSP00000295133:A376V	A	-	2	0	FBXO41	73347280	1.000000	0.71417	0.503000	0.27626	0.837000	0.47467	9.486000	0.97944	2.408000	0.81797	0.453000	0.30009	GCG			0.672	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000377381.1			
LRRTM4	80059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	77746912	77746912	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:77746912G>C	ENST00000409093.1	-	3	419	c.83C>G	c.(82-84)aCg>aGg	p.T28R	LRRTM4_ENST00000409884.1_Missense_Mutation_p.T28R|LRRTM4_ENST00000409282.1_Missense_Mutation_p.T29R|LRRTM4_ENST00000409088.3_Missense_Mutation_p.T28R|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T29R			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	28					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.T28M(2)|p.T28K(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGAGCACCCGTGAGCATAAC	0.443																																					p.T28R													LRRTM4_ENST00000409911,NS,carcinoma,0,10	LRRTM4_ENST00000409911	0	10	4	Substitution - Missense(4)	lung(2)|endometrium(2)	c.C83G												69.0	68.0	68.0					2																	77746912		2028	4198	6226	SO:0001583	missense	80059	exon3			GCACCCGTGAGCA	AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.83C>G	2.37:g.77746912G>C	ENSP00000386357:p.Thr28Arg		Somatic	184	0	0		WXS	Illumina HiSeq	.	141	0.27	38	NM_024993	0		0	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602119	0.28534	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282;ENST00000456154	T;T;T;T;T	0.52983	0.64;0.67;0.67;0.77;0.78	5.96	5.96	0.96718	.	0.435314	0.26146	N	0.026067	T	0.33760	0.0874	N	0.14661	0.345	0.24525	N	0.99415	B;B;P	0.38597	0.242;0.355;0.639	B;B;B	0.39590	0.16;0.304;0.212	T	0.36432	-0.9748	10	0.56958	D	0.05	.	12.3072	0.54908	0.0774:0.0:0.9226:0.0	.	29;28;28	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	R	29;28;28;28;29;17	ENSP00000387228:T29R;ENSP00000387297:T28R;ENSP00000386357:T28R;ENSP00000386236:T28R;ENSP00000386286:T29R	ENSP00000386236:T28R	T	-	2	0	LRRTM4	77600420	0.017000	0.18338	0.998000	0.56505	0.995000	0.86356	1.961000	0.40432	2.826000	0.97356	0.655000	0.94253	ACG			0.443	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		OTTHUMT00000328225.1		NM_024993	
IL18RAP	8807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	103061722	103061722	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:103061722C>T	ENST00000264260.2	+	9	1583	c.994C>T	c.(994-996)Cgc>Tgc	p.R332C	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190C	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCGTGATCTTCGCAGGAAGTT	0.423																																					p.R332C													IL18RAP,NS,carcinoma,0,2	IL18RAP	0	2	0			c.C994T												115.0	106.0	109.0					2																	103061722		2203	4300	6503	SO:0001583	missense	8807	exon9			GATCTTCGCAGGA	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.994C>T	2.37:g.103061722C>T	ENSP00000264260:p.Arg332Cys		Somatic	165	0	0		WXS	Illumina HiSeq	.	118	0.23	27	NM_003853	1	0.00	0	B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	14.57	2.573819	0.45902	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.13901	2.55;2.55	5.63	3.77	0.43336	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.326070	0.04542	N	0.388360	T	0.29028	0.0721	L	0.57536	1.79	0.09310	N	1	D	0.71674	0.998	P	0.56612	0.802	T	0.07309	-1.0779	10	0.38643	T	0.18	.	8.6267	0.33895	0.4458:0.438:0.1162:0.0	.	332	O95256	I18RA_HUMAN	C	332;190	ENSP00000264260:R332C;ENSP00000387201:R190C	ENSP00000264260:R332C	R	+	1	0	IL18RAP	102428154	0.000000	0.05858	0.001000	0.08648	0.587000	0.36485	0.309000	0.19332	0.662000	0.31006	0.655000	0.94253	CGC			0.423	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253291.2		NM_003853	
MALL	7851	broad.mit.edu	37	2	110849314	110849314	+	Missense_Mutation	SNP	C	C	T	rs141817647	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:110849314C>T	ENST00000272462.2	-	2	912	c.139G>A	c.(139-141)Gcc>Acc	p.A47T	MALL_ENST00000427178.1_Intron	NM_005434.4	NP_005425.1	Q13021	MALL_HUMAN	mal, T-cell differentiation protein-like	47	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cholesterol homeostasis (GO:0042632)	clathrin-coated vesicle (GO:0030136)|cytoplasmic membrane-bounded vesicle (GO:0016023)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	9				Epithelial(1;0.0546)|STAD - Stomach adenocarcinoma(1;0.18)		ATGTGGGTGGCGGCTACCATG	0.468																																					p.A47T													.	MALL	14		0			c.G139A							C	THR/ALA	0,4404		0,0,2202	89.0	78.0	82.0		139	2.6	0.6	2	dbSNP_134	82	5,8585	4.3+/-15.6	0,5,4290	no	missense	MALL	NM_005434.4	58	0,5,6492	TT,TC,CC		0.0582,0.0,0.0385	benign	47/154	110849314	5,12989	2202	4295	6497	SO:0001583	missense	7851	exon2			GGGTGGCGGCTAC	U17077	CCDS2085.1	2q13	2008-02-05			ENSG00000144063	ENSG00000144063			6818	protein-coding gene	gene with protein product		602022				9326933	Standard	NM_005434		Approved	BENE	uc002tfk.3	Q13021	OTTHUMG00000131196	ENST00000272462.2:c.139G>A	2.37:g.110849314C>T	ENSP00000272462:p.Ala47Thr		Somatic	131	0	0		WXS	Illumina HiSeq	Phase_I	144	0.03	5	NM_005434	2	0.00	0	B3KWR6|Q9BTU0	Missense_Mutation	SNP	ENST00000272462.2	37	CCDS2085.1	.	.	.	.	.	.	.	.	.	.	C	4.006	-0.001483	0.07819	0.0	5.82E-4	ENSG00000144063	ENST00000272462	T	0.24538	1.85	3.47	2.57	0.30868	Marvel (1);MARVEL-like domain (1);	0.000000	0.53938	D	0.000051	T	0.32041	0.0816	M	0.78916	2.43	0.80722	D	1	P	0.47253	0.892	P	0.45577	0.486	T	0.09100	-1.0690	10	0.27082	T	0.32	-15.8102	9.9635	0.41710	0.2047:0.7953:0.0:0.0	.	47	Q13021	MALL_HUMAN	T	47	ENSP00000272462:A47T	ENSP00000272462:A47T	A	-	1	0	MALL	110206603	0.990000	0.36364	0.647000	0.29507	0.072000	0.16883	3.130000	0.50508	0.552000	0.29026	0.313000	0.20887	GCC			0.468	MALL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253921.1		NM_005434	
PSD4	23550	mdanderson.org	37	2	113956425	113956425	+	Silent	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:113956425G>T	ENST00000245796.6	+	15	2928	c.2733G>T	c.(2731-2733)cgG>cgT	p.R911R	PSD4_ENST00000441564.3_Silent_p.R882R	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	911					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GATTCGTGCGGCCCATCCTGC	0.716																																					p.R911R													.	.			0			c.G2733T												10.0	11.0	10.0					2																	113956425		2166	4222	6388	SO:0001819	synonymous_variant	23550	exon15			CGTGCGGCCCATC	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.2733G>T	2.37:g.113956425G>T			Somatic	8	0	0		WXS	Illumina HiSeq	Phase_I	13	0.15	2	NM_012455	2	0.00	0	A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Silent	SNP	ENST00000245796.6	37	CCDS33276.1																																																																																					0.716	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000330789.1		NM_012455	
SCG2	7857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	224463779	224463779	+	Silent	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:224463779G>A	ENST00000305409.2	-	2	454	c.222C>T	c.(220-222)agC>agT	p.S74S		NM_003469.4	NP_003460.2	O00255	MEN1_HUMAN	secretogranin II	0					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		AATCTGGGCTGCTTTCTTCCT	0.463																																					p.S74S													.	.			0			c.C222T												128.0	134.0	132.0					2																	224463779		2203	4300	6503	SO:0001819	synonymous_variant	7857	exon2			TGGGCTGCTTTCT	M25756	CCDS2457.1	2q35-q36	2010-04-27	2010-04-27		ENSG00000171951	ENSG00000171951			10575	protein-coding gene	gene with protein product	"""secretoneurin"", ""chromogranin C"""	118930				8617499, 16101435	Standard	NM_003469		Approved	CHGC, SgII, SN	uc002vnm.3	P13521	OTTHUMG00000133166	ENST00000305409.2:c.222C>T	2.37:g.224463779G>A			Somatic	216	0	0		WXS	Illumina HiSeq	.	218	0.18	40	NM_003469	3	0.33	1	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Silent	SNP	ENST00000305409.2	37	CCDS2457.1																																																																																					0.463	SCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000256870.2		NM_003469	
PAX1	5075	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	20	21689976	21689976	+	Silent	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr20:21689976G>T	ENST00000398485.2	+	4	1230	c.1176G>T	c.(1174-1176)ccG>ccT	p.P392P	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Silent_p.P368P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	392					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CGGGCCCGCCGTGGCCGCCTG	0.751																																					p.P392P													.	.			0			c.G1176T												11.0	16.0	14.0					20																	21689976		1956	3797	5753	SO:0001819	synonymous_variant	5075	exon4			CCCGCCGTGGCCG		CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.1176G>T	20.37:g.21689976G>T			Somatic	16	0	0		WXS	Illumina HiSeq	.	14	0.50	7	NM_006192	0		0	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	ENST00000398485.2	37	CCDS13146.2																																																																																					0.751	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078282.3			
CD93	22918	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca;mdanderson.org	37	20	23066500	23066500	+	Silent	SNP	C	C	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr20:23066500C>A	ENST00000246006.4	-	1	477	c.330G>T	c.(328-330)ccG>ccT	p.P110P		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	110	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCCTTCAGCGGCAGACTAG	0.637																																					p.P110P													.	.			0			c.G330T												19.0	18.0	18.0					20																	23066500		2194	4292	6486	SO:0001819	synonymous_variant	22918	exon1			CTTCAGCGGCAGA	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.330G>T	20.37:g.23066500C>A			Somatic	99	0	0		WXS	Illumina HiSeq	.	58	0.50	29	NM_012072	0		0	O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																					0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000078312.2		NM_012072	
PIGU	128869	mdanderson.org	37	20	33203925	33203925	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr20:33203925G>T	ENST00000374820.2	-	6	508	c.488C>A	c.(487-489)gCt>gAt	p.A163D	PIGU_ENST00000480175.1_Intron|PIGU_ENST00000452740.2_Missense_Mutation_p.A183D			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	183					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|regulation of JAK-STAT cascade (GO:0046425)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						AAGAAAAATAGCACTGAGGAA	0.443																																					p.A183D													.	.			0			c.C548A												93.0	72.0	79.0					20																	33203925		2203	4300	6503	SO:0001583	missense	128869	exon7			AAAATAGCACTGA	AL118520	CCDS13239.1	20q11.22	2013-02-26	2006-11-07	2006-11-07	ENSG00000101464	ENSG00000101464		"""Phosphatidylinositol glycan anchor biosynthesis"""	15791	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	608528	"""CDC91 (cell division cycle 91, S. cerevisiae, homolog)-like 1"", ""CDC91 cell division cycle 91-like 1 (S. cerevisiae)"""	CDC91L1		12802054, 15034568	Standard	NM_080476		Approved	bA346K17.2, GAB1	uc002xas.3	Q9H490	OTTHUMG00000032304	ENST00000374820.2:c.488C>A	20.37:g.33203925G>T	ENSP00000363953:p.Ala163Asp		Somatic	60	0	0		WXS	Illumina HiSeq	Phase_I	47	0.06	3	NM_080476	65	0.00	0	Q7Z489|Q8N2F2	Missense_Mutation	SNP	ENST00000374820.2	37		.	.	.	.	.	.	.	.	.	.	G	20.5	4.003812	0.74932	.	.	ENSG00000101464	ENST00000217446;ENST00000374820;ENST00000452740	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.75867	0.3908	M	0.79258	2.445	0.80722	D	1	D;D;D	0.56746	0.977;0.971;0.977	P;P;P	0.57057	0.812;0.624;0.741	T	0.77778	-0.2460	9	0.52906	T	0.07	.	16.3705	0.83355	0.0:0.0:1.0:0.0	.	183;163;183	E7EVL4;Q9H490-2;Q9H490	.;.;PIGU_HUMAN	D	183;163;183	.	ENSP00000217446:A183D	A	-	2	0	PIGU	32667586	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.699000	0.74613	2.612000	0.88384	0.591000	0.81541	GCT			0.443	PIGU-201	KNOWN	basic	protein_coding	protein_coding				NM_080476	
LCA5L	150082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	21	40792705	40792705	+	Missense_Mutation	SNP	C	C	T	rs370952139		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr21:40792705C>T	ENST00000358268.2	-	6	1430	c.902G>A	c.(901-903)cGg>cAg	p.R301Q	LCA5L_ENST00000380671.2_Missense_Mutation_p.R301Q|LCA5L_ENST00000288350.3_Missense_Mutation_p.R301Q			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	301										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TAAAGTCTTCCGAGTCTCAAT	0.393																																					p.R301Q													.	.			0			c.G902A												53.0	55.0	54.0					21																	40792705		2203	4300	6503	SO:0001583	missense	150082	exon6			GTCTTCCGAGTCT	AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.902G>A	21.37:g.40792705C>T	ENSP00000351008:p.Arg301Gln		Somatic	129	0	0		WXS	Illumina HiSeq	.	142	0.20	28	NM_152505	0		0	D3DSI0|Q3ZCT0	Missense_Mutation	SNP	ENST00000358268.2	37	CCDS13665.1	.	.	.	.	.	.	.	.	.	.	C	10.27	1.304911	0.23736	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	T;T;T	0.76709	-1.04;-1.04;-1.04	5.94	1.97	0.26223	.	0.219778	0.38778	N	0.001564	T	0.70325	0.3211	M	0.62723	1.935	0.37420	D	0.913585	B	0.27971	0.196	B	0.24155	0.051	T	0.64588	-0.6372	10	0.37606	T	0.19	-4.5285	9.1143	0.36748	0.0:0.514:0.0:0.486	.	301	O95447	LCA5L_HUMAN	Q	301	ENSP00000288350:R301Q;ENSP00000370046:R301Q;ENSP00000351008:R301Q	ENSP00000288350:R301Q	R	-	2	0	LCA5L	39714575	0.015000	0.18098	0.558000	0.28319	0.048000	0.14542	-0.990000	0.03732	0.081000	0.16988	0.650000	0.86243	CGG			0.393	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000141807.2		NM_152505	
MGAT3	4248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	22	39884487	39884487	+	Missense_Mutation	SNP	A	A	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr22:39884487A>T	ENST00000341184.6	+	2	1350	c.1135A>T	c.(1135-1137)Atc>Ttc	p.I379F		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	379					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTGGACGGCATCCGCCTGCG	0.642																																					p.I379F													.	.			0			c.A1135T												42.0	45.0	44.0					22																	39884487		2203	4299	6502	SO:0001583	missense	4248	exon2			GACGGCATCCGCC	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.1135A>T	22.37:g.39884487A>T	ENSP00000345270:p.Ile379Phe		Somatic	65	0	0		WXS	Illumina HiSeq	.	39	0.38	15	NM_002409	4	0.00	0	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	37	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	A	12.30	1.897918	0.33535	.	.	ENSG00000128268	ENST00000341184	.	.	.	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	L	0.31294	0.92	0.54753	D	0.999987	P	0.35077	0.483	B	0.36134	0.218	T	0.35871	-0.9771	9	0.09338	T	0.73	.	15.3619	0.74483	1.0:0.0:0.0:0.0	.	379	Q09327	MGAT3_HUMAN	F	379	.	ENSP00000345270:I379F	I	+	1	0	MGAT3	38214433	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.766000	0.91728	2.047000	0.60756	0.454000	0.30748	ATC			0.642	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000075039.2		NM_002409	
SEMA5B	54437	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	3	122645325	122645325	+	Silent	SNP	G	G	A	rs539416552		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr3:122645325G>A	ENST00000357599.3	-	9	1436	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G	SEMA5B_ENST00000451055.2_Silent_p.G404G|SEMA5B_ENST00000195173.4_Silent_p.G350G|AC078794.1_ENST00000408284.1_RNA	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	350	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGGGGACCTCGCCCGGGCGGG	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18837	0.0		0.0	False		,,,				2504	0.001				p.G404G													SEMA5B_ENST00000451055,NS,malignant_melanoma,-2,3	SEMA5B_ENST00000451055	-2	3	0			c.C1212T												34.0	35.0	35.0					3																	122645325		2203	4300	6503	SO:0001819	synonymous_variant	54437	exon9			GACCTCGCCCGGG	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.1050C>T	3.37:g.122645325G>A			Somatic	133	0	0		WXS	Illumina HiSeq	.	125	0.27	34	NM_001256347	5	0.60	3	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Silent	SNP	ENST00000357599.3	37	CCDS35491.1																																																																																					0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000277165.1		NM_001031702	
GSX2	170825	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	4	54968011	54968021	+	Frame_Shift_Del	DEL	GCACTACGCGC	GCACTACGCGC	-	rs140212063|rs146677175		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	GCACTACGCGC	GCACTACGCGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr4:54968011_54968021delGCACTACGCGC	ENST00000326902.2	+	2	1151_1161	c.837_847delGCACTACGCGC	c.(835-849)gtgcactacgcgcgcfs	p.HYAR280fs	FIP1L1_ENST00000507166.1_Intron|AC110298.1_ENST00000408292.1_RNA|GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	280					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			GGAGCCAGGTGCACTACGCGCGCTCCGAGGA	0.621																																					p.279_282del													.	.			0			c.836_846del																																									SO:0001589	frameshift_variant	170825	exon2			CCAGGTGCACTAC		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.837_847delGCACTACGCGC	4.37:g.54968011_54968021delGCACTACGCGC	ENSP00000319118:p.His280fs		Somatic	202	0	0		WXS	Illumina HiSeq	.	105	0.29	30	NM_133267	0		0		Frame_Shift_Del	DEL	ENST00000326902.2	37	CCDS3494.1																																																																																					0.621	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000250595.1		NM_133267	
CDK7	1022	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	68530860	68530860	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:68530860G>A	ENST00000256443.3	+	1	161	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CDK7_ENST00000502604.1_5'Flank|CDK7_ENST00000514676.1_Missense_Mutation_p.E20K	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	20	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		CTTCCTTGGGGAGGGACAGGT	0.652								Nucleotide excision repair (NER)																													p.E20K													.	.			0			c.G58A												24.0	22.0	23.0					5																	68530860		2202	4300	6502	SO:0001583	missense	1022	exon1			CTTGGGGAGGGAC		CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.58G>A	5.37:g.68530860G>A	ENSP00000256443:p.Glu20Lys		Somatic	198	0	0		WXS	Illumina HiSeq	.	127	0.37	47	NM_001799	72	0.43	31	Q9BS60|Q9UE19	Missense_Mutation	SNP	ENST00000256443.3	37	CCDS3999.1	.	.	.	.	.	.	.	.	.	.	G	35	5.492928	0.96339	.	.	ENSG00000134058	ENST00000256443;ENST00000514676	T;T	0.65916	-0.18;-0.18	4.99	4.99	0.66335	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.107800	0.64402	D	0.000007	T	0.69360	0.3102	L	0.28556	0.865	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.79108	0.992;0.933	T	0.72782	-0.4189	10	0.87932	D	0	.	15.2917	0.73870	0.0:0.0:1.0:0.0	.	20;20	D6RIG9;P50613	.;CDK7_HUMAN	K	20	ENSP00000256443:E20K;ENSP00000422737:E20K	ENSP00000256443:E20K	E	+	1	0	CDK7	68566616	1.000000	0.71417	0.990000	0.47175	0.978000	0.69477	5.945000	0.70226	2.576000	0.86940	0.655000	0.94253	GAG			0.652	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000216802.3		NM_001799	
BDP1	55814	broad.mit.edu	37	5	70806755	70806755	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:70806755A>G	ENST00000358731.4	+	17	4099	c.3836A>G	c.(3835-3837)gAg>gGg	p.E1279G	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1279	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAAGAAATGGAGGCAGATTTG	0.378																																					p.E1279G													.	BDP1	204		0			c.A3836G												140.0	142.0	141.0					5																	70806755		1827	4083	5910	SO:0001583	missense	55814	exon17			AAATGGAGGCAGA	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.3836A>G	5.37:g.70806755A>G	ENSP00000351575:p.Glu1279Gly		Somatic	143	0	0		WXS	Illumina HiSeq	Phase_I	109	0.04	4	NM_018429	0		0	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	.	.	.	.	.	.	.	.	.	.	A	6.844	0.525033	0.13066	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.19938	2.11	3.57	1.05	0.20165	.	2.752640	0.01638	N	0.023907	T	0.20618	0.0496	L	0.51422	1.61	0.09310	N	0.999998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.04013	0.0;0.0;0.001	T	0.19451	-1.0305	10	0.44086	T	0.13	.	3.221	0.06715	0.6824:0.0:0.115:0.2027	.	1279;1279;1279	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	G	1279;859	ENSP00000351575:E1279G	ENSP00000351575:E1279G	E	+	2	0	BDP1	70842511	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	0.257000	0.18369	0.219000	0.20840	-0.908000	0.02827	GAG			0.378	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000374681.2		NM_018429	
TXNDC15	79770	mdanderson.org	37	5	134223555	134223555	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:134223555G>T	ENST00000358387.4	+	2	899	c.274G>T	c.(274-276)Gtg>Ttg	p.V92L	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V69L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	92					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGATCACATGGTGATGCTGTC	0.612																																					p.V92L													.	.			0			c.G274T												104.0	92.0	96.0					5																	134223555		2203	4300	6503	SO:0001583	missense	79770	exon2			CACATGGTGATGC	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.274G>T	5.37:g.134223555G>T	ENSP00000351157:p.Val92Leu		Somatic	235	0	0		WXS	Illumina HiSeq	Phase_I	126	0.04	5	NM_024715	22	0.00	0	D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.98|10.98	1.505636|1.505636	0.26949|0.26949	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000506916;ENST00000508810;ENST00000546290|ENST00000508779	T;T|.	0.48522|.	0.81;0.83|.	5.61|5.61	3.48|3.48	0.39840|0.39840	.|.	0.451330|.	0.23962|.	N|.	0.042852|.	T|T	0.29126|0.29126	0.0724|0.0724	N|N	0.14661|0.14661	0.345|0.345	0.21915|0.21915	N|N	0.999472|0.999472	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.18587|0.18587	-1.0332|-1.0332	10|5	0.51188|.	T|.	0.08|.	-21.6946|-21.6946	12.0634|12.0634	0.53574|0.53574	0.0767:0.1253:0.798:0.0|0.0767:0.1253:0.798:0.0	.|.	92|.	Q96J42|.	TXD15_HUMAN|.	L|C	76;92;90;75;69|75	ENSP00000351157:V92L;ENSP00000443942:V69L|.	ENSP00000351157:V92L|.	V|W	+|+	1|3	0|0	TXNDC15|TXNDC15	134251454|134251454	1.000000|1.000000	0.71417|0.71417	0.249000|0.249000	0.24280|0.24280	0.629000|0.629000	0.37895|0.37895	2.470000|2.470000	0.45119|0.45119	1.355000|1.355000	0.45865|0.45865	0.585000|0.585000	0.79938|0.79938	GTG|TGG			0.612	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251160.1		NM_024715	
PCDHGB7	56099	mdanderson.org	37	5	140799086	140799086	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:140799086G>T	ENST00000398594.2	+	1	1660	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	554	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTGGTGGGCGACCGTAACGA	0.716																																					p.D554Y													.	.			0			c.G1660T												28.0	35.0	33.0					5																	140799086		2100	4217	6317	SO:0001583	missense	56099	exon1			GTGGGCGACCGTA	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1660G>T	5.37:g.140799086G>T	ENSP00000381594:p.Asp554Tyr		Somatic	75	0	0		WXS	Illumina HiSeq	Phase_I	53	0.06	3	NM_032101	2	0.00	0	Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	g	19.00	3.741501	0.69304	.	.	ENSG00000254122	ENST00000398594	T	0.67865	-0.29	5.38	5.38	0.77491	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34555	U	0.003873	D	0.90769	0.7102	H	0.99752	4.75	0.35275	D	0.780799	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97075	0.9780	10	0.87932	D	0	.	18.7253	0.91711	0.0:0.0:1.0:0.0	.	554;554	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	Y	554	ENSP00000381594:D554Y	ENSP00000381594:D554Y	D	+	1	0	PCDHGB7	140779270	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.511000	0.81718	2.513000	0.84729	0.491000	0.48974	GAC			0.716	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000376973.1		NM_018927	
ARAP3	64411	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	5	141059697	141059697	+	Silent	SNP	G	G	A	rs200318347	byFrequency	TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:141059697G>A	ENST00000239440.4	-	2	422	c.357C>T	c.(355-357)gcC>gcT	p.A119A	ARAP3_ENST00000508305.1_Silent_p.A41A	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	119	Pro-rich.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTCCCCCGAGGGCTGGGCTCA	0.662																																					p.A119A													.	.			0			c.C357T												60.0	78.0	72.0					5																	141059697		2201	4300	6501	SO:0001819	synonymous_variant	64411	exon2			CCCGAGGGCTGGG	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.357C>T	5.37:g.141059697G>A			Somatic	56	0	0		WXS	Illumina HiSeq	.	39	0.46	18	NM_022481	15	0.53	8	B4DIT1|D3DQE3	Silent	SNP	ENST00000239440.4	37	CCDS4266.1																																																																																			0.005		0.662	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000251805.1		NM_022481	
CDX1	1044	mdanderson.org	37	5	149546520	149546520	+	Silent	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:149546520G>A	ENST00000231656.8	+	1	163	c.81G>A	c.(79-81)ccG>ccA	p.P27P		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	27					anterior/posterior pattern specification (GO:0009952)|bone morphogenesis (GO:0060349)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCTGGGCCCGCAAGCCTAcg	0.756																																					p.P27P													.	.			0			c.G81A												3.0	4.0	4.0					5																	149546520		1264	2417	3681	SO:0001819	synonymous_variant	1044	exon1			GGGCCCGCAAGCC	U51095	CCDS4304.1	5q32	2012-03-09	2007-07-09		ENSG00000113722	ENSG00000113722		"""Homeoboxes / ANTP class : HOXL subclass"""	1805	protein-coding gene	gene with protein product		600746	"""caudal type homeo box transcription factor 1"""			8530027	Standard	NM_001804		Approved		uc003lrq.3	P47902	OTTHUMG00000169772	ENST00000231656.8:c.81G>A	5.37:g.149546520G>A			Somatic	17	0	0		WXS	Illumina HiSeq	Phase_I	19	0.16	3	NM_001804	8	0.00	0	Q4VAU4|Q9NYK8	Silent	SNP	ENST00000231656.8	37	CCDS4304.1	.	.	.	.	.	.	.	.	.	.	G	0.025	-1.381776	0.01204	.	.	ENSG00000113722	ENST00000394298	.	.	.	3.01	-6.03	0.02185	.	.	.	.	.	T	0.37046	0.0989	.	.	.	0.32918	D	0.515489	.	.	.	.	.	.	T	0.45571	-0.9252	5	0.87932	D	0	-7.8821	0.082	0.00032	0.3332:0.2004:0.195:0.2714	.	.	.	.	T	36	.	ENSP00000377835:A36T	A	+	1	0	CDX1	149526713	0.003000	0.15002	0.000000	0.03702	0.001000	0.01503	-2.633000	0.00869	-3.023000	0.00269	-0.643000	0.03959	GCA			0.756	CDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000252328.7		NM_001804	
RBM22	55696	mdanderson.org	37	5	150075147	150075147	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:150075147G>T	ENST00000199814.4	-	7	788	c.667C>A	c.(667-669)Ctg>Atg	p.L223M	RBM22_ENST00000540000.1_Missense_Mutation_p.L174M|RBM22_ENST00000447771.2_Missense_Mutation_p.L174M	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	223					cellular response to drug (GO:0035690)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of RNA splicing (GO:0033120)|protein import into nucleus, translocation (GO:0000060)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium-dependent protein binding (GO:0048306)|metal ion binding (GO:0046872)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|snRNA binding (GO:0017069)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGGGTCCAGCCGAGGCATT	0.433																																					p.L223M													.	.			0			c.C667A												102.0	100.0	100.0					5																	150075147		2203	4300	6503	SO:0001583	missense	55696	exon7			GGTCCAGCCGAGG	AL136933	CCDS34278.1	5q33.1	2013-02-12			ENSG00000086589	ENSG00000086589		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	25503	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 47"""	612430				20013661, 19133299	Standard	NM_018047		Approved	FLJ10290, ZC3H16, fSAP47, Cwc2	uc031slu.1	Q9NW64	OTTHUMG00000163589	ENST00000199814.4:c.667C>A	5.37:g.150075147G>T	ENSP00000199814:p.Leu223Met		Somatic	138	0	0		WXS	Illumina HiSeq	Phase_I	89	0.04	4	NM_018047	49	0.00	0	A6NDM5|B4DLI9|O95607	Missense_Mutation	SNP	ENST00000199814.4	37	CCDS34278.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413342	0.62511	.	.	ENSG00000086589	ENST00000199814;ENST00000540000;ENST00000447771	.	.	.	5.83	4.96	0.65561	Nucleotide-binding, alpha-beta plait (1);	0.145290	0.47852	D	0.000219	T	0.65964	0.2742	M	0.80616	2.505	0.80722	D	1	P	0.51653	0.947	P	0.46796	0.527	T	0.71397	-0.4605	9	0.51188	T	0.08	-13.6938	14.936	0.70954	0.0686:0.0:0.9314:0.0	.	223	Q9NW64	RBM22_HUMAN	M	223;174;174	.	ENSP00000199814:L223M	L	-	1	2	RBM22	150055340	1.000000	0.71417	0.997000	0.53966	0.326000	0.28443	6.675000	0.74493	1.470000	0.48102	0.655000	0.94253	CTG			0.433	RBM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000374431.2		NM_018047	
EBF1	1879	mdanderson.org	37	5	158524093	158524093	+	Silent	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:158524093G>T	ENST00000313708.6	-	2	462	c.180C>A	c.(178-180)tcC>tcA	p.S60S	EBF1_ENST00000380654.4_Silent_p.S60S|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Silent_p.S60S	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	60					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCGCAGATTGGAAGGCGGCT	0.627			T	HMGA2	lipoma																																p.S60S				Dom	yes		5	5q34	1879	early B-cell factor 1		M	.	.			0			c.C180A												46.0	46.0	46.0					5																	158524093		2203	4300	6503	SO:0001819	synonymous_variant	1879	exon2			CAGATTGGAAGGC	AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.180C>A	5.37:g.158524093G>T			Somatic	71	0	0		WXS	Illumina HiSeq	Phase_I	50	0.06	3	NM_024007	1	0.00	0	Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																					0.627	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding		OTTHUMT00000252649.1		NM_024007	
ZFP2	80108	broad.mit.edu	37	5	178358837	178358837	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr5:178358837G>T	ENST00000361362.2	+	5	1053	c.523G>T	c.(523-525)Gtc>Ttc	p.V175F	ZFP2_ENST00000503510.2_Missense_Mutation_p.V175F|ZFP2_ENST00000520301.1_Missense_Mutation_p.V175F|ZFP2_ENST00000523286.1_Missense_Mutation_p.V175F	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GAATCTTACTGTCCATCAACG	0.403																																					p.V175F													.	ZFP2	70		0			c.G523T												53.0	52.0	53.0					5																	178358837		2203	4300	6503	SO:0001583	missense	80108	exon5			CTTACTGTCCATC	AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.523G>T	5.37:g.178358837G>T	ENSP00000354453:p.Val175Phe		Somatic	82	0	0		WXS	Illumina HiSeq	Phase_I	61	0.05	3	NM_030613	0		0	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	9.114	1.007378	0.19199	.	.	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	4.7	1.83	0.25207	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29760	N	0.011266	T	0.12263	0.0298	L	0.39633	1.23	0.09310	N	1	D	0.69078	0.997	D	0.64410	0.925	T	0.11012	-1.0605	10	0.45353	T	0.12	-7.566	1.4964	0.02467	0.1908:0.1654:0.4729:0.1709	.	175	Q6ZN57	ZFP2_HUMAN	F	175	ENSP00000354453:V175F;ENSP00000430980:V175F;ENSP00000430531:V175F;ENSP00000438114:V175F	ENSP00000354453:V175F	V	+	1	0	ZFP2	178291443	0.000000	0.05858	1.000000	0.80357	0.308000	0.27856	-1.365000	0.02587	1.200000	0.43188	-0.198000	0.12761	GTC			0.403	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253470.2		NM_030613	
PBX2	5089	hgsc.bcm.edu;broad.mit.edu	37	6	32155509	32155509	+	Missense_Mutation	SNP	T	T	A	rs202223627		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:32155509T>A	ENST00000375050.4	-	5	1055	c.785A>T	c.(784-786)tAt>tTt	p.Y262F	XXbac-BPG300A18.13_ENST00000559458.1_RNA	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	262					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Y262F(3)		endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						GGAGTAGAAATACTCATTTAG	0.517																																					p.Y262F													PBX2,NS,carcinoma,0,4	PBX2	0	4	3	Substitution - Missense(3)	lung(3)	c.A785T																																									SO:0001583	missense	5089	exon5			TAGAAATACTCAT		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.785A>T	6.37:g.32155509T>A	ENSP00000364190:p.Tyr262Phe		Somatic	121	0.0165289256	2		WXS	Illumina HiSeq	.	120	0.06	7	NM_002586	46	0.00	0	A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.841111	0.71488	.	.	ENSG00000204304	ENST00000375050	D	0.83673	-1.75	4.63	4.63	0.57726	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.201957	0.34435	N	0.003969	T	0.61837	0.2379	N	0.10629	0.01	0.80722	D	1	P;P	0.42337	0.776;0.502	P;P	0.45232	0.474;0.458	T	0.71314	-0.4630	10	0.49607	T	0.09	-0.8351	12.0363	0.53427	0.0:0.0:0.0:1.0	.	262;262	Q7KZE5;P40425	.;PBX2_HUMAN	F	262	ENSP00000364190:Y262F	ENSP00000364190:Y262F	Y	-	2	0	PBX2	32263487	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.505000	0.81655	1.943000	0.56356	0.459000	0.35465	TAT	0.001		0.517	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000076194.4			
CMTR1	23070	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	37446211	37446211	+	Missense_Mutation	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:37446211C>T	ENST00000373451.4	+	22	2344	c.2180C>T	c.(2179-2181)tCc>tTc	p.S727F		NM_015050.2	NP_055865.1	Q8N1G2	CMTR1_HUMAN	cap methyltransferase 1	727	Interaction with POLR2A.				7-methylguanosine mRNA capping (GO:0006370)|cap1 mRNA methylation (GO:0097309)|mRNA methylation (GO:0080009)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA (nucleoside-2'-O-)-methyltransferase activity (GO:0004483)|nucleic acid binding (GO:0003676)										ATCAAGGGCTCCAGTGGCACC	0.517																																					p.S727F													.	.			0			c.C2180T												218.0	207.0	211.0					6																	37446211		2203	4300	6503	SO:0001583	missense	23070	exon22			AGGGCTCCAGTGG	BC031890	CCDS4835.1	6p21.2	2013-07-23	2013-07-23	2013-07-23	ENSG00000137200	ENSG00000137200	2.1.1.57	"""G patch domain containing"""	21077	protein-coding gene	gene with protein product			"""KIAA0082"", ""FtsJ methyltransferase domain containing 2"""	KIAA0082, FTSJD2		20713356	Standard	NM_015050		Approved	MTr1, ISG95	uc003ons.3	Q8N1G2	OTTHUMG00000014624	ENST00000373451.4:c.2180C>T	6.37:g.37446211C>T	ENSP00000362550:p.Ser727Phe		Somatic	159	0	0		WXS	Illumina HiSeq	.	118	0.33	39	NM_015050	78	0.28	22	A8K949|Q14670|Q96FJ9	Missense_Mutation	SNP	ENST00000373451.4	37	CCDS4835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.7|28.7	4.945188|4.945188	0.92593|0.92593	.|.	.|.	ENSG00000137200|ENSG00000137200	ENST00000457419|ENST00000373451;ENST00000373420;ENST00000452299	.|.	.|.	.|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|0.052120	.|0.85682	.|D	.|0.000000	T|T	0.45357|0.45357	0.1338|0.1338	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|P	.|0.41265	.|0.744	.|B	.|0.30943	.|0.122	T|T	0.59847|0.59847	-0.7377|-0.7377	5|9	.|0.72032	.|D	.|0.01	-20.9789|-20.9789	18.0044|18.0044	0.89205|0.89205	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|727	.|Q8N1G2	.|MTR1_HUMAN	S|F	80|727;134;71	.|.	.|ENSP00000362519:S134F	P|S	+|+	1|2	0|0	FTSJD2|FTSJD2	37554189|37554189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.420000|7.420000	0.80191|0.80191	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CCA|TCC			0.517	CMTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000040408.1		NM_015050	
SLC25A51P1	442229	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	6	66498776	66498776	+	IGR	SNP	C	C	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:66498776C>T								EYS (81658 upstream) : AC002485.1 (570541 downstream)																							TTTACCAACACTTATCAGGCC	0.448																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	442229	.			CCAACACTTATCA																													6.37:g.66498776C>T			Somatic	100	0	0		WXS	Illumina HiSeq	.	75	0.31	23	.	0		0		RNA	SNP		37																																																																																					0	0.448										
MDN1	23195	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	6	90486377	90486377	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:90486377G>C	ENST00000369393.3	-	12	1878	c.1763C>G	c.(1762-1764)aCa>aGa	p.T588R	MDN1_ENST00000428876.1_Missense_Mutation_p.T588R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	588					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CAGTTTGCTTGTATGCTCAGA	0.328																																					p.T588R													.	.			0			c.C1763G												138.0	129.0	132.0					6																	90486377		2202	4299	6501	SO:0001583	missense	23195	exon12			TTGCTTGTATGCT	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.1763C>G	6.37:g.90486377G>C	ENSP00000358400:p.Thr588Arg		Somatic	80	0	0		WXS	Illumina HiSeq	.	94	0.32	30	NM_014611	2	0.00	0	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	G	7.918	0.738055	0.15574	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.39997	1.05;1.05;1.05	5.07	3.09	0.35607	ATPase, AAA+ type, core (1);	0.802027	0.11468	N	0.561035	T	0.14442	0.0349	L	0.41236	1.265	0.09310	N	1	B;B	0.22746	0.074;0.003	B;B	0.25759	0.063;0.008	T	0.24083	-1.0170	10	0.24483	T	0.36	.	7.4406	0.27181	0.0:0.3327:0.3976:0.2697	.	515;588	Q5T795;Q9NU22	.;MDN1_HUMAN	R	588;588;515	ENSP00000358400:T588R;ENSP00000413970:T588R;ENSP00000409664:T515R	ENSP00000358400:T588R	T	-	2	0	MDN1	90543098	0.002000	0.14202	0.799000	0.32177	0.944000	0.59088	0.269000	0.18589	1.073000	0.40885	0.563000	0.77884	ACA			0.328	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000041514.2			
TIAM2	26230	mdanderson.org	37	6	155450817	155450817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:155450817G>T	ENST00000461783.3	+	6	1733	c.460G>T	c.(460-462)Gaa>Taa	p.E154*	TIAM2_ENST00000456144.1_Nonsense_Mutation_p.E154*|TIAM2_ENST00000360366.4_Nonsense_Mutation_p.E154*|TIAM2_ENST00000529824.2_Nonsense_Mutation_p.E154*|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Nonsense_Mutation_p.E154*			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	154					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCACCGGGCGAAGACCGCAA	0.582																																					p.E154X													.	.			0			c.G460T												54.0	53.0	53.0					6																	155450817		2203	4300	6503	SO:0001587	stop_gained	26230	exon3			CCGGGCGAAGACC		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.460G>T	6.37:g.155450817G>T	ENSP00000437188:p.Glu154*		Somatic	73	0	0		WXS	Illumina HiSeq	Phase_I	42	0.07	3	NM_012454	0		0	B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Nonsense_Mutation	SNP	ENST00000461783.3	37	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	G	44	11.260218	0.99538	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	.	.	.	5.1	2.18	0.27775	.	0.247012	0.39020	N	0.001488	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.3189	0.43753	0.0:0.2767:0.5798:0.1435	.	.	.	.	X	154;400;154;154;154;154;154;154	.	ENSP00000327315:E154X	E	+	1	0	TIAM2	155492509	0.992000	0.36948	0.009000	0.14445	0.014000	0.08584	4.442000	0.59988	0.202000	0.20498	-0.521000	0.04368	GAA			0.582	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding		OTTHUMT00000387980.2		NM_012454	
C6orf123	26238	hgsc.bcm.edu	37	6	168191838	168191838	+	Intron	SNP	C	C	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr6:168191838C>G	ENST00000366822.2	-	2	238									chromosome 6 open reading frame 123																		CCTTCATCAGCCCATCAACCA	0.607																																					.													.	.			0			.																																									SO:0001627	intron_variant	26238	.			CATCAGCCCATCA			6q27	2008-02-05			ENSG00000146521	ENSG00000146521			21235	protein-coding gene	gene with protein product						10382971	Standard	NR_026773		Approved	HGC6.2, dJ431P23.4	uc003sic.3	Q9Y6Z2	OTTHUMG00000016030	ENST00000366822.2:c.17-65G>C	6.37:g.168191838C>G			Somatic	27	0	0		WXS	Illumina HiSeq	.	19	0.37	7	.	0		0		RNA	SNP	ENST00000366822.2	37																																																																																						0.607	C6orf123-002	PUTATIVE	basic|appris_principal	protein_coding	protein_coding		OTTHUMT00000043147.3		NM_014356	
GRB10	2887	broad.mit.edu;bcgsc.ca	37	7	50680448	50680454	+	Frame_Shift_Del	DEL	CTGAACG	CTGAACG	-	rs568610330		TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	CTGAACG	CTGAACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:50680448_50680454delCTGAACG	ENST00000401949.1	-	13	1647_1653	c.1178_1184delCGTTCAG	c.(1177-1185)gcgttcagafs	p.AFR393fs	GRB10_ENST00000398812.2_Frame_Shift_Del_p.AFR393fs|GRB10_ENST00000402497.1_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000403097.1_Frame_Shift_Del_p.AFR387fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.AFR347fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.AFR387fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.AFR335fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.AFR335fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	393	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CTTGAGGAGTCTGAACGCTGTCATCCA	0.473									Russell-Silver syndrome																												p.393_395del													.	GRB10	155		0			c.1178_1184del																																									SO:0001589	frameshift_variant	2887	exon10	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	AGGAGTCTGAACG		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1178_1184delCGTTCAG	7.37:g.50680448_50680454delCTGAACG	ENSP00000385770:p.Ala393fs		Somatic	104	0	0		WXS	Illumina HiSeq	Phase_I	99	0.09	9	NM_005311	40	0.00	0	A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Frame_Shift_Del	DEL	ENST00000401949.1	37	CCDS43582.1																																																																																					0.473	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000319157.1			
Unknown	0	bcgsc.ca	37	7	64030014	64030014	+	IGR	SNP	T	T	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:64030014T>G								ZNF680 (6530 upstream) : ZNF107 (96561 downstream)																							GCGCTCCATCTGCACCTTCAG	0.617																																					.													.	.			0			.																																									SO:0001628	intergenic_variant	0	.			TCCATCTGCACCT																													7.37:g.64030014T>G			Somatic	61	0	0		WXS	Illumina HiSeq	Phase_1	61	0.18	11	.	0		0		RNA	SNP		37																																																																																					0	0.617										
FGL2	10875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	76825646	76825646	+	Missense_Mutation	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:76825646A>G	ENST00000248598.5	-	2	1302	c.1270T>C	c.(1270-1272)Tcc>Ccc	p.S424P	CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	424	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCTTTGAAGGAGGACTTGTAG	0.438																																					p.S424P													.	.			0			c.T1270C												65.0	58.0	61.0					7																	76825646		2203	4300	6503	SO:0001583	missense	10875	exon2			TGAAGGAGGACTT	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1270T>C	7.37:g.76825646A>G	ENSP00000248598:p.Ser424Pro		Somatic	108	0	0		WXS	Illumina HiSeq	.	115	0.28	32	NM_006682	17	0.00	0		Missense_Mutation	SNP	ENST00000248598.5	37	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.507871	0.44558	.	.	ENSG00000127951	ENST00000248598	D	0.81579	-1.51	5.87	4.65	0.58169	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);	0.142779	0.64402	D	0.000004	T	0.79161	0.4399	M	0.79258	2.445	0.47065	D	0.999303	B	0.26400	0.148	B	0.34590	0.186	T	0.79448	-0.1799	10	0.72032	D	0.01	.	3.4326	0.07434	0.6491:0.1417:0.0732:0.136	.	424	Q14314	FGL2_HUMAN	P	424	ENSP00000248598:S424P	ENSP00000248598:S424P	S	-	1	0	FGL2	76663582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.033000	0.30191	2.371000	0.80710	0.533000	0.62120	TCC			0.438	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000253176.1		NM_006682	
PPP1R9A	55607	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	7	94539755	94539755	+	Silent	SNP	T	T	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:94539755T>C	ENST00000433881.1	+	2	862	c.330T>C	c.(328-330)gaT>gaC	p.D110D	PPP1R9A_ENST00000289495.5_Silent_p.D110D|PPP1R9A_ENST00000424654.1_Silent_p.D110D|PPP1R9A_ENST00000456331.2_Silent_p.D110D|PPP1R9A_ENST00000433360.1_Silent_p.D110D|PPP1R9A_ENST00000340694.4_Silent_p.D110D			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	110	Actin-binding.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAACAGATGGCTCAGTTG	0.423										HNSCC(28;0.073)																											p.D110D													.	.			0			c.T330C												77.0	77.0	77.0					7																	94539755		2203	4300	6503	SO:0001819	synonymous_variant	55607	exon2			AACAGATGGCTCA	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.330T>C	7.37:g.94539755T>C			Somatic	219	0	0		WXS	Illumina HiSeq	.	207	0.48	100	NM_017650	1	1.00	1	A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	CCDS34683.1																																																																																					0.423	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000340662.1		NM_001166160	
FEZF1	389549	broad.mit.edu;ucsc.edu	37	7	121944000	121944000	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:121944000G>T	ENST00000442488.2	-	1	559	c.492C>A	c.(490-492)aaC>aaA	p.N164K	FEZF1-AS1_ENST00000424404.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.N164K|FEZF1_ENST00000427185.2_Intron|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	164					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTCACCTCGGTTCAGGTAGC	0.632																																					p.N164K													.	FEZF1	60		0			c.C492A												14.0	14.0	14.0					7																	121944000		2203	4299	6502	SO:0001583	missense	389549	exon1			ACCTCGGTTCAGG	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.492C>A	7.37:g.121944000G>T	ENSP00000411145:p.Asn164Lys		Somatic	74	0.0135135135	1		WXS	Illumina HiSeq	Phase_I	86	0.14	12	NM_001024613	0		0	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Missense_Mutation	SNP	ENST00000442488.2	37	CCDS34741.2	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560893	0.27827	.	.	ENSG00000128610	ENST00000442488;ENST00000331178	T;T	0.10192	2.9;2.92	4.65	0.062	0.14343	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	L	0.36672	1.1	0.39915	D	0.974074	D	0.64830	0.994	P	0.50314	0.637	T	0.04128	-1.0975	10	0.52906	T	0.07	-23.7031	9.9796	0.41806	0.113:0.0:0.7612:0.1258	.	164	A0PJY2	FEZF1_HUMAN	K	164	ENSP00000411145:N164K;ENSP00000332777:N164K	ENSP00000332777:N164K	N	-	3	2	FEZF1	121731236	1.000000	0.71417	0.957000	0.39632	0.020000	0.10135	1.519000	0.35888	-0.034000	0.13713	0.555000	0.69702	AAC			0.632	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000347410.1		NM_001024613	
LRGUK	136332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	133812184	133812184	+	Nonsense_Mutation	SNP	A	A	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:133812184A>T	ENST00000285928.2	+	1	133	c.64A>T	c.(64-66)Aga>Tga	p.R22*	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	22						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AGGCTTGGGCAGATCCCGAAC	0.582																																					p.R22X													LRGUK,NS,carcinoma,-1,1	LRGUK	-1	1	0			c.A64T												90.0	91.0	91.0					7																	133812184		2203	4300	6503	SO:0001587	stop_gained	136332	exon1			TTGGGCAGATCCC	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.64A>T	7.37:g.133812184A>T	ENSP00000285928:p.Arg22*		Somatic	131	0	0		WXS	Illumina HiSeq	.	199	0.15	30	NM_144648	2	0.00	0	Q2M3I1	Nonsense_Mutation	SNP	ENST00000285928.2	37	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.125659	0.77436	.	.	ENSG00000155530	ENST00000285928	.	.	.	3.56	-1.5	0.08691	.	1.019440	0.07830	N	0.961195	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	3.8645	0.09010	0.4196:0.2094:0.371:0.0	.	.	.	.	X	22	.	ENSP00000285928:R22X	R	+	1	2	LRGUK	133462724	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.960000	0.03849	-0.267000	0.09325	-0.256000	0.11100	AGA			0.582	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000339442.1		NM_144648	
ZNF398	57541	broad.mit.edu	37	7	148876752	148876752	+	Silent	SNP	T	T	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr7:148876752T>G	ENST00000475153.1	+	6	2055	c.1788T>G	c.(1786-1788)ggT>ggG	p.G596G	ZNF398_ENST00000483892.1_Silent_p.G425G|ZNF398_ENST00000335901.4_Silent_p.G425G|ZNF398_ENST00000540950.1_Silent_p.G601G|ZNF398_ENST00000491174.1_Silent_p.G425G|ZNF398_ENST00000420008.2_Silent_p.G425G|ZNF398_ENST00000426851.2_Silent_p.G425G			Q8TD17	ZN398_HUMAN	zinc finger protein 398	596					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			GCTGTGGGGGTGATAGTGACC	0.587																																					p.G596G													.	ZNF398	54		0			c.T1788G												60.0	62.0	62.0					7																	148876752		2203	4300	6503	SO:0001819	synonymous_variant	0	exon6			TGGGGGTGATAGT	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1788T>G	7.37:g.148876752T>G			Somatic	59	0.1525423729	9		WXS	Illumina HiSeq	Phase_I	109	0.13	14	NM_170686	88	0.01	1	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Silent	SNP	ENST00000475153.1	37	CCDS5894.1																																																																																					0.587	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000352722.2			
ZBTB10	65986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	8	81399795	81399795	+	Missense_Mutation	SNP	C	C	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr8:81399795C>G	ENST00000430430.1	+	2	1529	c.750C>G	c.(748-750)ttC>ttG	p.F250L	Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000426744.2_Missense_Mutation_p.F250L|ZBTB10_ENST00000455036.3_Missense_Mutation_p.F250L|ZBTB10_ENST00000379091.4_Intron	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	250					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			AATGCTCCTTCCAGACCTCCT	0.587																																					p.F250L													.	.			0			c.C750G												37.0	40.0	39.0					8																	81399795		2009	4166	6175	SO:0001583	missense	65986	exon1			CTCCTTCCAGACC	AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.750C>G	8.37:g.81399795C>G	ENSP00000387462:p.Phe250Leu		Somatic	81	0	0		WXS	Illumina HiSeq	.	89	0.22	20	NM_023929	10	0.20	2	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Missense_Mutation	SNP	ENST00000430430.1	37	CCDS47880.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759578	0.49468	.	.	ENSG00000205189	ENST00000430430;ENST00000455036;ENST00000426744;ENST00000519370	T;T;T	0.25912	1.79;1.79;1.77	4.94	3.15	0.36227	.	0.000000	0.64402	D	0.000001	T	0.18383	0.0441	L	0.27053	0.805	0.46725	D	0.999177	B;B;B	0.24186	0.06;0.06;0.099	B;B;B	0.22753	0.011;0.018;0.041	T	0.04607	-1.0939	10	0.87932	D	0	.	10.9194	0.47156	0.0:0.8476:0.0:0.1524	.	106;250;250	A8E4L4;Q96DT7;Q96DT7-2	.;ZBT10_HUMAN;.	L	250;250;250;78	ENSP00000387462:F250L;ENSP00000412036:F250L;ENSP00000416134:F250L	ENSP00000416134:F250L	F	+	3	2	ZBTB10	81562350	1.000000	0.71417	0.996000	0.52242	0.004000	0.04260	1.663000	0.37429	0.498000	0.27948	-0.142000	0.14014	TTC			0.587	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000338055.2		NM_023929	
ZNF706	51123	mdanderson.org	37	8	102213875	102213875	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr8:102213875G>A	ENST00000520347.1	-	2	3051	c.95C>T	c.(94-96)gCt>gTt	p.A32V	ZNF706_ENST00000518336.1_Missense_Mutation_p.A32V|ZNF706_ENST00000517844.1_Missense_Mutation_p.A32V|ZNF706_ENST00000519882.1_Missense_Mutation_p.A32V|ZNF706_ENST00000520984.1_Missense_Mutation_p.A32V|ZNF706_ENST00000521272.1_Missense_Mutation_p.A32V|ZNF706_ENST00000519744.1_Missense_Mutation_p.A32V|ZNF706_ENST00000311212.4_Missense_Mutation_p.A32V			Q9Y5V0	ZN706_HUMAN	zinc finger protein 706	32							metal ion binding (GO:0046872)			large_intestine(1)|ovary(2)	3	all_cancers(14;3.3e-07)|all_epithelial(15;3.47e-09)|Lung NSC(17;3.44e-05)|all_lung(17;0.000117)		Epithelial(11;8.57e-11)|all cancers(13;1.43e-08)|OV - Ovarian serous cystadenocarcinoma(57;1.43e-05)			AGCTTTGGCAGCAGCCTTTTG	0.433																																					p.A32V													.	.			0			c.C95T												148.0	136.0	140.0					8																	102213875		2203	4299	6502	SO:0001583	missense	51123	exon3			TTGGCAGCAGCCT	AF125099	CCDS6291.1	8q22.3	2005-09-22				ENSG00000120963			24992	protein-coding gene	gene with protein product						11042152	Standard	NM_001042510		Approved	HSPC038	uc031tbv.1	Q9Y5V0		ENST00000520347.1:c.95C>T	8.37:g.102213875G>A	ENSP00000430823:p.Ala32Val		Somatic	84	0	0		WXS	Illumina HiSeq	Phase_I	78	0.05	4	NM_001042510	203	0.00	0	A8K362	Missense_Mutation	SNP	ENST00000520347.1	37	CCDS6291.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.236463	0.79800	.	.	ENSG00000120963	ENST00000520984;ENST00000311212;ENST00000519744;ENST00000517844;ENST00000519103;ENST00000520347;ENST00000519882;ENST00000521272;ENST00000518336;ENST00000523922	.	.	.	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.78142	0.4237	.	.	.	0.80722	D	1	D	0.62365	0.991	D	0.63793	0.918	T	0.79130	-0.1930	8	0.48119	T	0.1	.	18.6414	0.91397	0.0:0.0:1.0:0.0	.	32	Q9Y5V0	ZN706_HUMAN	V	32;32;32;32;4;32;32;32;32;32	.	ENSP00000311768:A32V	A	-	2	0	ZNF706	102283051	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.399000	0.81585	0.655000	0.94253	GCT			0.433	ZNF706-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000380477.1		NM_016096	
COL14A1	7373	hgsc.bcm.edu;broad.mit.edu;mdanderson.org	37	8	121215961	121215961	+	Silent	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr8:121215961G>T	ENST00000297848.3	+	9	1161	c.891G>T	c.(889-891)gcG>gcT	p.A297A	COL14A1_ENST00000537875.1_Silent_p.A297A|COL14A1_ENST00000309791.4_Silent_p.A297A|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Silent_p.A202A	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGAAAAACGCGGATGTGAATG	0.498																																					p.A297A													.	.			0			c.G891T												118.0	103.0	108.0					8																	121215961		2203	4300	6503	SO:0001819	synonymous_variant	7373	exon9			AAACGCGGATGTG		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.891G>T	8.37:g.121215961G>T			Somatic	70	0	0		WXS	Illumina HiSeq	.	68	0.06	4	NM_021110	0		0		Silent	SNP	ENST00000297848.3	37	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	1.928	-0.446614	0.04572	.	.	ENSG00000187955	ENST00000523142	.	.	.	5.09	-10.2	0.00374	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.1706	0.01825	0.4154:0.1435:0.1628:0.2783	.	.	.	.	X	54	.	.	G	+	1	0	COL14A1	121285142	0.000000	0.05858	0.062000	0.19696	0.355000	0.29361	-4.712000	0.00195	-2.776000	0.00362	-0.258000	0.10820	GGA			0.498	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000313657.2		NM_021110	
LOC100132077	100132077	broad.mit.edu	37	9	97108767	97108768	+	lincRNA	INS	-	-	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:97108767_97108768insT	ENST00000454869.1	+	0	698					NR_033937.1																						TTTTTTACAAGTTTTTTTTTTT	0.505																																					.													.	.			0			.																																											0	.			TTACAAGTTTTTT																													9.37:g.97108778_97108778dupT			Somatic	23	0	0		WXS	Illumina HiSeq	Phase_I	10	0.30	3	.	7	0.00	0		RNA	INS	ENST00000454869.1	37																																																																																						0.505	RP11-307E17.8-001	KNOWN	basic	lincRNA	lincRNA		OTTHUMT00000053177.1			
C9orf3	84909	broad.mit.edu	37	9	97535328	97535328	+	Missense_Mutation	SNP	T	T	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:97535328T>C	ENST00000375315.2	+	2	842	c.842T>C	c.(841-843)cTt>cCt	p.L281P	C9orf3_ENST00000297979.5_Missense_Mutation_p.L281P|C9orf3_ENST00000277198.2_Missense_Mutation_p.L281P	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	281					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AACAGGGCCCTTTTTCCATGC	0.463																																					p.L281P													.	C9orf3	100		0			c.T842C												125.0	120.0	122.0					9																	97535328		2203	4300	6503	SO:0001583	missense	84909	exon3			GGGCCCTTTTTCC	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.842T>C	9.37:g.97535328T>C	ENSP00000364464:p.Leu281Pro		Somatic	176	0	0		WXS	Illumina HiSeq	Phase_I	101	0.03	3	NM_001193331	3	0.00	0	Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	ENST00000375315.2	37	CCDS55328.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889215	0.72524	.	.	ENSG00000148120	ENST00000277198;ENST00000297979;ENST00000375315;ENST00000424143;ENST00000428313	T;T;T;T;T	0.04706	3.57;3.57;3.57;3.57;3.57	5.09	5.09	0.68999	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19805	0.0476	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.00214	-1.1912	10	0.87932	D	0	-12.3101	15.0328	0.71720	0.0:0.0:0.0:1.0	.	281;281;281;281	Q8N6M6;Q8N6M6-4;Q8N6M6-2;Q8N6M6-3	AMPO_HUMAN;.;.;.	P	281;281;281;104;63	ENSP00000277198:L281P;ENSP00000297979:L281P;ENSP00000364464:L281P;ENSP00000402171:L104P;ENSP00000401854:L63P	ENSP00000277198:L281P	L	+	2	0	C9orf3	96575149	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.406000	0.80017	2.136000	0.66102	0.477000	0.44152	CTT			0.463	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				NM_032823	
POMT1	10585	mdanderson.org	37	9	134382868	134382868	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:134382868G>A	ENST00000372228.3	+	5	573	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	POMT1_ENST00000354713.4_Missense_Mutation_p.A102T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000404875.2_Missense_Mutation_p.A15T|POMT1_ENST00000423007.1_Missense_Mutation_p.A132T|POMT1_ENST00000402686.3_Missense_Mutation_p.A132T|POMT1_ENST00000341012.7_Missense_Mutation_p.A78T|POMT1_ENST00000419118.2_Intron	NM_007171.3	NP_009102	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	132					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|mannosylation (GO:0097502)|multicellular organismal development (GO:0007275)|protein O-linked glycosylation (GO:0006493)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|sarcoplasmic reticulum (GO:0016529)	dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannosyltransferase activity (GO:0000030)|metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TTCTCATTGTGCCGCCATGGG	0.607																																					p.A132T													.	.			0			c.G394A												176.0	140.0	152.0					9																	134382868		2203	4300	6503	SO:0001583	missense	10585	exon5			CATTGTGCCGCCA	AF095136	CCDS6943.1, CCDS43894.1, CCDS43895.1, CCDS48045.1	9q34.1	2014-09-17			ENSG00000130714	ENSG00000130714	2.4.1.109	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	9202	protein-coding gene	gene with protein product	"""dolichyl-phosphate-mannose-protein mannosyltransferase"""	607423				10366449	Standard	NM_001077366		Approved	LGMD2K	uc004cav.3	Q9Y6A1	OTTHUMG00000020826	ENST00000372228.3:c.394G>A	9.37:g.134382868G>A	ENSP00000361302:p.Ala132Thr		Somatic	63	0	0		WXS	Illumina HiSeq	Phase_I	38	0.08	3	NM_001136113	8	0.00	0	B3KQG0|B4DIF0|Q5JT01|Q5JT06|Q5JT08|Q8NC91|Q8TCA9|Q9NX32|Q9NX82|Q9UNT2	Missense_Mutation	SNP	ENST00000372228.3	37	CCDS6943.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280135	0.23392	.	.	ENSG00000130714	ENST00000423007;ENST00000404875;ENST00000341012;ENST00000441334;ENST00000372221;ENST00000372228;ENST00000402686;ENST00000354713;ENST00000418774;ENST00000415075;ENST00000448212;ENST00000430619	D;D;D;D;D;D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	5.07	2.17	0.27698	Glycosyl transferase, family 39 (1);	0.107189	0.64402	N	0.000004	T	0.68412	0.2998	N	0.25094	0.71	0.80722	D	1	B;B;B;B	0.13594	0.001;0.001;0.008;0.001	B;B;B;B	0.20955	0.009;0.007;0.032;0.005	T	0.55717	-0.8097	10	0.02654	T	1	-30.8073	6.5765	0.22569	0.0725:0.1289:0.665:0.1336	.	102;132;132;132	B4DTW4;B4DWD8;Q9Y6A1;Q9Y6A1-2	.;.;POMT1_HUMAN;.	T	132;15;78;15;15;132;132;102;132;15;78;15	ENSP00000404119:A132T;ENSP00000384531:A15T;ENSP00000343034:A78T;ENSP00000395060:A15T;ENSP00000361302:A132T;ENSP00000385797:A132T;ENSP00000346748:A102T;ENSP00000390737:A132T;ENSP00000405149:A15T;ENSP00000403736:A78T;ENSP00000402083:A15T	ENSP00000343034:A78T	A	+	1	0	POMT1	133372689	0.073000	0.21202	0.083000	0.20561	0.380000	0.30137	0.292000	0.19011	0.231000	0.21079	0.563000	0.77884	GCC			0.607	POMT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000054737.1		NM_007171	
SNAPC4	6621	hgsc.bcm.edu;mdanderson.org	37	9	139277986	139277986	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:139277986G>T	ENST00000298532.2	-	15	2003	c.1635C>A	c.(1633-1635)gaC>gaA	p.D545E		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		GCTCTGGCTCGTCCTCCTCgc	0.677																																					p.D545E													.	.			0			c.C1635A												18.0	14.0	16.0					9																	139277986		2181	4278	6459	SO:0001583	missense	6621	exon15			TGGCTCGTCCTCC	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1635C>A	9.37:g.139277986G>T	ENSP00000298532:p.Asp545Glu		Somatic	81	0	0		WXS	Illumina HiSeq	.	60	0.07	4	NM_003086	25	0.00	0		Missense_Mutation	SNP	ENST00000298532.2	37	CCDS6998.1	.	.	.	.	.	.	.	.	.	.	G	0.168	-1.074089	0.01918	.	.	ENSG00000165684	ENST00000298532	T	0.21031	2.03	4.67	-9.34	0.00636	.	7.091190	0.00166	N	0.000000	T	0.04861	0.0131	N	0.01874	-0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23440	-1.0188	10	0.02654	T	1	.	2.4281	0.04464	0.1996:0.4204:0.2033:0.1767	.	545	Q5SXM2	SNPC4_HUMAN	E	545	ENSP00000298532:D545E	ENSP00000298532:D545E	D	-	3	2	SNAPC4	138397807	0.008000	0.16893	0.000000	0.03702	0.001000	0.01503	-1.369000	0.02578	-2.969000	0.00287	-1.010000	0.02471	GAC			0.677	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055071.1		NM_003086	
ANAPC2	29882	broad.mit.edu;bcgsc.ca;mdanderson.org	37	9	140076172	140076172	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr9:140076172G>A	ENST00000323927.2	-	7	1433	c.1429C>T	c.(1429-1431)Cca>Tca	p.P477S		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	477					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CAGTCCTCTGGCTCGCCTGAG	0.667																																					p.P477S													.	ANAPC2	57		0			c.C1429T												56.0	53.0	54.0					9																	140076172		2203	4300	6503	SO:0001583	missense	29882	exon7			CCTCTGGCTCGCC	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1429C>T	9.37:g.140076172G>A	ENSP00000314004:p.Pro477Ser		Somatic	42	0.0238095238	1		WXS	Illumina HiSeq	Phase_I	23	0.52	12	NM_013366	41	0.51	21	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336918	0.24253	.	.	ENSG00000176248	ENST00000323927	T	0.77358	-1.09	5.07	5.07	0.68467	Cullin, N-terminal (1);	0.053166	0.85682	D	0.000000	T	0.68824	0.3043	L	0.52266	1.64	0.58432	D	0.999999	P;P	0.46395	0.877;0.851	B;B	0.40782	0.34;0.23	T	0.66264	-0.5967	10	0.10377	T	0.69	-21.3614	11.7783	0.51999	0.0:0.1779:0.8221:0.0	.	477;474	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	S	477	ENSP00000314004:P477S	ENSP00000314004:P477S	P	-	1	0	ANAPC2	139195993	1.000000	0.71417	0.999000	0.59377	0.641000	0.38312	5.905000	0.69893	2.363000	0.80096	0.561000	0.74099	CCA			0.667	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055315.1		NM_013366	
FANCB	2187	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	14868779	14868779	+	Silent	SNP	A	A	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:14868779A>G	ENST00000324138.3	-	6	1497	c.1344T>C	c.(1342-1344)ccT>ccC	p.P448P	FANCB_ENST00000398334.1_Silent_p.P448P	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	448					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					CACCACAAAGAGGAACAAGAC	0.299								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.P448P													.	.			0			c.T1344C												63.0	51.0	55.0					X																	14868779		2203	4299	6502	SO:0001819	synonymous_variant	2187	exon6	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	ACAAAGAGGAACA	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1344T>C	X.37:g.14868779A>G			Somatic	140	0	0		WXS	Illumina HiSeq	.	233	0.34	79	NM_152633	5	0.20	1	B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	CCDS14161.1																																																																																					0.299	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000055835.1		NM_152633	
PORCN	64840	broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	X	48372918	48372918	+	Missense_Mutation	SNP	T	T	G			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:48372918T>G	ENST00000326194.6	+	9	894	c.851T>G	c.(850-852)cTg>cGg	p.L284R	PORCN_ENST00000361988.3_Missense_Mutation_p.L273R|PORCN_ENST00000359882.4_Missense_Mutation_p.L278R|PORCN_ENST00000367574.4_Missense_Mutation_p.L202R|PORCN_ENST00000355092.3_Missense_Mutation_p.L278R|PORCN_ENST00000537758.1_Missense_Mutation_p.L284R|PORCN_ENST00000355961.4_Missense_Mutation_p.L279R	NM_203475.1	NP_982301.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	284					glycoprotein metabolic process (GO:0009100)|Wnt signaling pathway (GO:0016055)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups (GO:0016746)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCAGGGACCTGACGGTGTCC	0.542																																					p.L284R													.	PORCN	61		0			c.T851G												87.0	63.0	71.0					X																	48372918		2203	4300	6503	SO:0001583	missense	64840	exon9			GGGACCTGACGGT	AF317058	CCDS14296.1, CCDS14297.1, CCDS14298.1, CCDS14299.1	Xp11.23	2014-02-05			ENSG00000102312	ENSG00000102312			17652	protein-coding gene	gene with protein product		300651	"""dermal hypoplasia, focal"""	DHOF		10866835, 12034504, 17546030	Standard	NM_203474		Approved	MG61, PORC, PPN, por	uc004djv.1	Q9H237	OTTHUMG00000024116	ENST00000326194.6:c.851T>G	X.37:g.48372918T>G	ENSP00000322304:p.Leu284Arg		Somatic	114	0.0087719298	1		WXS	Illumina HiSeq	Phase_I	219	0.25	55	NM_203475	25	0.24	6	B2RBN8|B7ZAR3|Q14829|Q9H234|Q9H235|Q9H236|Q9UJU7	Missense_Mutation	SNP	ENST00000326194.6	37	CCDS14299.1	.	.	.	.	.	.	.	.	.	.	T	18.43	3.621813	0.66787	.	.	ENSG00000102312	ENST00000359882;ENST00000537758;ENST00000367574;ENST00000355961;ENST00000361988;ENST00000326194;ENST00000355092	T;T;T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67;-0.67;-0.67	5.52	5.52	0.82312	.	0.123265	0.53938	D	0.000050	T	0.80476	0.4630	M	0.66939	2.045	0.58432	D	0.999997	D;D;D;D;D	0.67145	0.996;0.961;0.969;0.996;0.996	D;P;P;D;D	0.66351	0.943;0.905;0.905;0.943;0.943	T	0.80379	-0.1407	10	0.41790	T	0.15	-5.3823	12.4536	0.55691	0.0:0.0:0.0:1.0	.	278;284;202;273;279	Q9H237-3;Q9H237;B7ZAR3;Q9H237-4;Q9H237-2	.;PORCN_HUMAN;.;.;.	R	278;284;202;279;273;284;278	ENSP00000352946:L278R;ENSP00000446401:L284R;ENSP00000356546:L202R;ENSP00000348233:L279R;ENSP00000354978:L273R;ENSP00000322304:L284R;ENSP00000347207:L278R	ENSP00000322304:L284R	L	+	2	0	PORCN	48257862	1.000000	0.71417	0.991000	0.47740	0.605000	0.37080	7.345000	0.79337	1.847000	0.53656	0.381000	0.24937	CTG			0.542	PORCN-011	KNOWN	basic|CCDS	protein_coding	protein_coding		OTTHUMT00000356990.1		NM_022825	
PRICKLE3	4007	hgsc.bcm.edu	37	X	49033372	49033372	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:49033372G>T	ENST00000376317.3	-	8	1229	c.1135C>A	c.(1135-1137)Cgc>Agc	p.R379S	PRICKLE3_ENST00000536904.1_Missense_Mutation_p.R298S|PRICKLE3_ENST00000538114.1_Intron|PRICKLE3_ENST00000540849.1_Missense_Mutation_p.R311S	NM_006150.3	NP_006141.2	O43900	PRIC3_HUMAN	prickle homolog 3 (Drosophila)	379				Missing (in Ref. 7; AAB92357). {ECO:0000305}.			zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|skin(2)	22						CAGCTGCGGCGGCTCGGCCCT	0.677																																					p.R379S													.	.			0			c.C1135A												19.0	17.0	17.0					X																	49033372		2201	4297	6498	SO:0001583	missense	4007	exon8			TGCGGCGGCTCGG	BC016856	CCDS14320.1	Xp11.23	2008-02-05	2007-09-18	2007-09-18	ENSG00000012211	ENSG00000012211			6645	protein-coding gene	gene with protein product		300111	"""LIM domain only 6"""	LMO6		9344658	Standard	XM_005272605		Approved		uc004dmy.1	O43900	OTTHUMG00000024134	ENST00000376317.3:c.1135C>A	X.37:g.49033372G>T	ENSP00000365494:p.Arg379Ser		Somatic	66	0	0		WXS	Illumina HiSeq	.	99	0.04	4	NM_006150	16	0.00	0	B7Z8F2|O76007|Q53XR5	Missense_Mutation	SNP	ENST00000376317.3	37	CCDS14320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.75|10.75	1.437635|1.437635	0.25900|0.25900	.|.	.|.	ENSG00000012211|ENSG00000012211	ENST00000453382|ENST00000376317;ENST00000536904;ENST00000540849	.|T;T;T	.|0.68765	.|-0.34;-0.35;-0.35	4.56|4.56	3.62|3.62	0.41486|0.41486	.|.	.|0.000000	.|0.38837	.|N	.|0.001559	T|T	0.51483|0.51483	0.1677|0.1677	N|N	0.24115|0.24115	0.695|0.695	0.38814|0.38814	D|D	0.955473|0.955473	.|P;B;B	.|0.51057	.|0.941;0.158;0.13	.|P;B;B	.|0.46026	.|0.501;0.044;0.022	T|T	0.49153|0.49153	-0.8969|-0.8969	5|10	.|0.26408	.|T	.|0.33	-19.0266|-19.0266	8.1945|8.1945	0.31387|0.31387	0.0:0.0:0.7623:0.2377|0.0:0.0:0.7623:0.2377	.|.	.|341;298;379	.|B7Z6S4;B7Z8F2;O43900	.|.;.;PRIC3_HUMAN	Q|S	391|379;298;311	.|ENSP00000365494:R379S;ENSP00000441385:R298S;ENSP00000446051:R311S	.|ENSP00000365494:R379S	P|R	-|-	2|1	0|0	PRICKLE3|PRICKLE3	48920316|48920316	1.000000|1.000000	0.71417|0.71417	0.980000|0.980000	0.43619|0.43619	0.028000|0.028000	0.11728|0.11728	2.172000|2.172000	0.42463|0.42463	2.248000|2.248000	0.74166|0.74166	0.425000|0.425000	0.28330|0.28330	CCG|CGC			0.677	PRICKLE3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		OTTHUMT00000060811.1		NM_006150	
FATE1	89885	broad.mit.edu	37	X	150891213	150891213	+	Missense_Mutation	SNP	G	G	T			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:150891213G>T	ENST00000370350.3	+	5	619	c.534G>T	c.(532-534)tgG>tgT	p.W178C		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	178						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CCAACCTGTGGCTGTGGATGA	0.657																																					p.W178C													.	FATE1	30		0			c.G534T												50.0	51.0	51.0					X																	150891213		2203	4300	6503	SO:0001583	missense	89885	exon5			CCTGTGGCTGTGG	AF249872	CCDS14700.1	Xq28	2009-03-25			ENSG00000147378	ENSG00000147378			24683	protein-coding gene	gene with protein product	"""cancer/testis antigen 43"""	300450				11694338	Standard	NM_033085		Approved	FATE, CT43	uc004fex.3	Q969F0	OTTHUMG00000024172	ENST00000370350.3:c.534G>T	X.37:g.150891213G>T	ENSP00000359375:p.Trp178Cys		Somatic	167	0.0119760479	2		WXS	Illumina HiSeq	Phase_I	212	0.04	9	NM_033085	4	0.00	0		Missense_Mutation	SNP	ENST00000370350.3	37	CCDS14700.1	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495576	0.44352	.	.	ENSG00000147378	ENST00000370350	T	0.73681	-0.77	4.39	4.39	0.52855	.	0.000000	0.42053	D	0.000768	T	0.78991	0.4371	L	0.36672	1.1	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	T	0.80719	-0.1257	10	0.87932	D	0	-9.5415	11.3766	0.49733	0.0:0.0:1.0:0.0	.	178	Q969F0	FATE1_HUMAN	C	178	ENSP00000359375:W178C	ENSP00000359375:W178C	W	+	3	0	FATE1	150641869	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	4.082000	0.57635	2.161000	0.67846	0.600000	0.82982	TGG			0.657	FATE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000060885.1		NM_033085	
IL9R	3581	hgsc.bcm.edu;bcgsc.ca;mdanderson.org	37	X	155239821	155239821	+	Missense_Mutation	SNP	G	G	A			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chrX:155239821G>A	ENST00000244174.5	+	9	1492	c.1313G>A	c.(1312-1314)aGc>aAc	p.S438N	IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000424344.3_Missense_Mutation_p.S417N|IL9R_ENST00000540897.1_3'UTR	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	438	Poly-Ser.			S -> SS (in Ref. 1; AAA58679 and 4; AAL55435). {ECO:0000305}.	cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcagcaacaacaac	0.642																																					p.S438N													.	.			0			c.G1313A							G	ASN/SER	62,4206		2,58,2074	8.0	15.0	13.0		1313		0.0	X	dbSNP_134	13	18,8496		0,18,4239	no	missense	IL9R	NM_002186.2	46	2,76,6313	AA,AG,GG		0.2114,1.4527,0.6259		438/522	155239821	80,12702	2134	4257	6391	SO:0001583	missense	3581	exon9			GCAGCAGCAACAA	M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.1313G>A	X.37:g.155239821G>A	ENSP00000244174:p.Ser438Asn		Somatic	300	0	0		WXS	Illumina HiSeq	.	161	0.05	8	NM_002186	2	0.00	0	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	ENST00000244174.5	37	CCDS14771.4	.	.	.	.	.	.	.	.	.	.	g	4.299	0.054780	0.08291	0.014527	0.002114	ENSG00000124334	ENST00000244174;ENST00000424344	T;T	0.12039	2.72;2.72	.	.	.	.	39.681300	0.00166	N	0.000000	T	0.09730	0.0239	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.29912	-0.9996	5	0.52906	T	0.07	.	.	.	.	.	438	Q01113	IL9R_HUMAN	N	438;417	ENSP00000244174:S438N;ENSP00000388918:S417N	ENSP00000244174:S438N	S	+	2	0	IL9R	154893015	0.004000	0.15560	0.015000	0.15790	0.015000	0.08874	0.112000	0.15479	0.099000	0.17552	0.100000	0.15512	AGC	0.01		0.642	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		OTTHUMT00000058981.1		NM_002186	
INPP5D	3635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca;mdanderson.org	37	2	233925276	233925276	+	Missense_Mutation	SNP	G	G	C			TCGA-2G-AALP-01A-12D-A42Y-10	TCGA-2G-AALP-10A-01D-A433-10	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb62bace-995f-4da1-8ebb-ad5c18455253	718ac0d3-ae75-4ec9-b69b-8cda5e3d2cad	g.chr2:233925276G>C	ENST00000359570.5	+	1	88	c.88G>C	c.(88-90)Gtg>Ctg	p.V30L	INPP5D_ENST00000538935.1_Missense_Mutation_p.V30L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	30	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GAGCTTCCTCGTGCGTGCCAG	0.642																																					.	NSCLC(82;1215 1426 16163 20348 41018)												.	.			0			.												40.0	45.0	44.0					2																	233925276		2088	4218	6306	SO:0001583	missense	3635	.			TTCCTCGTGCGTG	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.88G>C	2.37:g.233925276G>C	ENSP00000352575:p.Val30Leu		Somatic	260	0	0		WXS	Illumina HiSeq	.	207	0.23	47	.	0		0	O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	ENST00000359570.5	37		.	.	.	.	.	.	.	.	.	.	G	16.37	3.104493	0.56291	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	4.62	4.62	0.57501	SH2 motif (5);	0.063939	0.64402	D	0.000007	D	0.90386	0.6991	.	.	.	0.35616	D	0.809025	B;B	0.26147	0.117;0.143	B;B	0.31946	0.085;0.138	D	0.91519	0.5233	9	0.49607	T	0.09	.	17.5118	0.87762	0.0:0.0:1.0:0.0	.	30;30	Q92835-2;Q92835	.;SHIP1_HUMAN	L	30	ENSP00000409018:V30L;ENSP00000415253:V30L;ENSP00000352575:V30L;ENSP00000441010:V30L	ENSP00000352575:V30L	V	+	1	0	INPP5D	233633520	0.997000	0.39634	1.000000	0.80357	0.984000	0.73092	2.573000	0.46007	2.144000	0.66660	0.555000	0.69702	GTG			0.642	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				NM_001017915	
