#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_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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
CHUK	1147	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	10	101969426	101969426	+	Nonsense_Mutation	SNP	G	G	A	rs34838525		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:101969426G>A	ENST00000370397.7	-	10	1140	c.1054C>T	c.(1054-1056)Caa>Taa	p.Q352*		NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	352					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AGAAGTTCTTGAGAACCAGTA	0.373																																					Ovarian(159;52 1904 10536 35305 37148)	.											0													69.0	70.0	69.0					10																	101969426		2203	4300	6503	SO:0001587	stop_gained	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1054C>T	10.37:g.101969426G>A	ENSP00000359424:p.Gln352*	Somatic		WXS	Illumina HiSeq	Phase_I	O14666|Q13132|Q5W0I4|Q92467	Nonsense_Mutation	SNP	ENST00000370397.7	37	CCDS7488.1	.	.	.	.	.	.	.	.	.	.	G	37	6.269173	0.97431	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.278	17.8404	0.88713	0.0:0.0:1.0:0.0	.	.	.	.	X	352	.	ENSP00000359424:Q352X	Q	-	1	0	CHUK	101959416	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	9.869000	0.99810	2.798000	0.96311	0.655000	0.94253	CAA		0.373	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	
SLK	9748	hgsc.bcm.edu	37	10	105762029	105762030	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:105762029_105762030insA	ENST00000369755.3	+	9	1638_1639	c.1093_1094insA	c.(1093-1095)gaafs	p.E365fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.E365fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	365	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GTCTGTCTCAGAAAAAACAGAA	0.386																																					NSCLC(111;540 1651 1927 4474 17706)	.											0																																										SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1099dupA	10.37:g.105762035_105762035dupA	ENSP00000358770:p.Glu365fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	ENST00000369755.3	37	CCDS7553.1																																																																																				0.386	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
ZZEF1	23140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	3917706	3917706	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:3917706T>A	ENST00000381638.2	-	50	8373	c.8249A>T	c.(8248-8250)gAc>gTc	p.D2750V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2750							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTGCTGGAAGTCACTGCTGCT	0.473																																						.											0													148.0	131.0	137.0					17																	3917706		2203	4300	6503	SO:0001583	missense	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8249A>T	17.37:g.3917706T>A	ENSP00000371051:p.Asp2750Val	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	ENST00000381638.2	37	CCDS11043.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617960	0.87359	.	.	ENSG00000074755	ENST00000381638	T	0.23950	1.88	5.17	5.17	0.71159	.	0.099894	0.64402	D	0.000002	T	0.40909	0.1136	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31138	-0.9954	10	0.72032	D	0.01	-20.0268	15.1875	0.73016	0.0:0.0:0.0:1.0	.	2750	O43149	ZZEF1_HUMAN	V	2750	ENSP00000371051:D2750V	ENSP00000371051:D2750V	D	-	2	0	ZZEF1	3864455	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.504000	0.81646	2.183000	0.69458	0.533000	0.62120	GAC		0.473	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207480.1	NM_015113	
TP53	7157	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	17	7579699	7579699	+	Splice_Site	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:7579699C>A	ENST00000269305.4	-	3	286		c.e3+1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTTGTCCTTACCAGAACGTTG	0.597		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	liver(8)|bone(4)|central_nervous_system(2)|ovary(2)|upper_aerodigestive_tract(1)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)											41.0	42.0	42.0					17																	7579699		2202	4298	6500	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.96+1G>T	17.37:g.7579699C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297523	0.81025	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6079	0.51043	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520424	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.928000	0.40104	2.466000	0.83321	0.561000	0.74099	.		0.597	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
RNASEH2A	10535	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	12917591	12917591	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:12917591A>T	ENST00000221486.4	+	1	198	c.104A>T	c.(103-105)gAg>gTg	p.E35V		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	35					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GGCGTCGATGAGGCGGGCAGG	0.692																																						.											0													13.0	11.0	12.0					19																	12917591		2188	4285	6473	SO:0001583	missense	10535			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.104A>T	19.37:g.12917591A>T	ENSP00000221486:p.Glu35Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.532462	0.85812	.	.	ENSG00000104889	ENST00000221486	D	0.98987	-5.3	4.44	4.44	0.53790	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.050459	0.85682	D	0.000000	D	0.99579	0.9848	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97679	1.0171	10	0.87932	D	0	-23.2914	12.8014	0.57588	1.0:0.0:0.0:0.0	.	35	O75792	RNH2A_HUMAN	V	35	ENSP00000221486:E35V	ENSP00000221486:E35V	E	+	2	0	RNASEH2A	12778591	1.000000	0.71417	0.996000	0.52242	0.463000	0.32649	8.022000	0.88759	1.860000	0.53959	0.374000	0.22700	GAG		0.692	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397	
CACNA1A	773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	19	13397774	13397774	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:13397774G>T	ENST00000360228.5	-	20	3095	c.3096C>A	c.(3094-3096)aaC>aaA	p.N1032K	CACNA1A_ENST00000573710.2_Missense_Mutation_p.N1033K	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1033					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGAGCCCTGGTTCTCTCTGA	0.537																																						.											0													14.0	15.0	15.0					19																	13397774		1592	3671	5263	SO:0001583	missense	773			U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.3096C>A	19.37:g.13397774G>T	ENSP00000353362:p.Asn1032Lys	Somatic		WXS	Illumina HiSeq	Phase_I	J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	ENST00000360228.5	37	CCDS45998.1	.	.	.	.	.	.	.	.	.	.	G	9.683	1.149864	0.21371	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.95447	-3.71	5.19	4.14	0.48551	.	1.040750	0.07642	N	0.930452	D	0.90889	0.7137	L	0.36672	1.1	0.34120	D	0.664068	B;B;B	0.23249	0.051;0.082;0.02	B;B;B	0.18561	0.016;0.022;0.018	T	0.81982	-0.0683	10	0.06236	T	0.91	.	10.3832	0.44123	0.1566:0.0:0.8434:0.0	.	1033;1036;1032	O00555;E9PD31;Q9NS88	CAC1A_HUMAN;.;.	K	1032;1036;1033;1033	ENSP00000353362:N1032K	ENSP00000317661:N1033K	N	-	3	2	CACNA1A	13258774	1.000000	0.71417	0.997000	0.53966	0.653000	0.38743	2.899000	0.48679	2.427000	0.82271	0.555000	0.69702	AAC		0.537	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068	
MYO9B	4650	hgsc.bcm.edu	37	19	17294679	17294680	+	Splice_Site	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:17294679_17294680insA	ENST00000594824.1	+	16	2520		c.e16+2		MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000595618.1_Splice_Site			Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.?(2)		breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATTCCAAAGGTAAAAAAAAAAA	0.411																																						.											2	Unknown(2)	soft_tissue(2)																																								SO:0001630	splice_region_variant	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.2373+2->A	19.37:g.17294690_17294690dupA		Somatic		WXS	Illumina HiSeq	Phase_I	O75314|Q9NUJ2|Q9UHN0	Splice_Site	INS	ENST00000594824.1	37																																																																																					0.411	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000463236.1		Intron
SLA2	84174	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	20	35262937	35262937	+	Silent	SNP	G	G	A	rs374910927		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:35262937G>A	ENST00000262866.4	-	3	569	c.147C>T	c.(145-147)gcC>gcT	p.A49A	SLA2_ENST00000360672.2_Silent_p.A49A	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	49	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				antigen receptor-mediated signaling pathway (GO:0050851)|B cell mediated immunity (GO:0019724)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of B cell activation (GO:0050869)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of signal transduction (GO:0009967)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome membrane (GO:0010008)|late endosome (GO:0005770)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)|SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GCGACAGCTCGGCCGGGCCAC	0.577																																					Ovarian(59;720 1165 26994 46188 51693)	.											0								G	,	0,4406		0,0,2203	46.0	43.0	44.0		147,147	-2.4	0.1	20		44	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLA2	NM_032214.2,NM_175077.1	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	49/262,49/211	35262937	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	84174			AF326353	CCDS13282.1, CCDS13283.1	20q11.23	2013-02-14			ENSG00000101082	ENSG00000101082		"""SH2 domain containing"""	17329	protein-coding gene	gene with protein product		606577		C20orf156		11696592	Standard	NM_032214		Approved	FLJ21992, SLAP-2	uc002xfv.3	Q9H6Q3	OTTHUMG00000032393	ENST00000262866.4:c.147C>T	20.37:g.35262937G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K648|E1P5U1|E1P5U2|Q5TH27|Q5TH28|Q8WY18|Q96QI4|Q9H135	Silent	SNP	ENST00000262866.4	37	CCDS13282.1																																																																																				0.577	SLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079037.2	NM_175077	
RUNX2	860	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	6	45405707	45405707	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:45405707A>G	ENST00000371438.1	+	4	962	c.604A>G	c.(604-606)Acc>Gcc	p.T202A	RUNX2_ENST00000352853.5_Missense_Mutation_p.T270A|RUNX2_ENST00000359524.5_Missense_Mutation_p.T188A|RUNX2_ENST00000465038.2_Missense_Mutation_p.T202A|RUNX2_ENST00000576263.1_Missense_Mutation_p.T202A|RUNX2_ENST00000371436.6_Missense_Mutation_p.T202A|RUNX2_ENST00000541979.1_Missense_Mutation_p.T270A|RUNX2_ENST00000371432.3_Missense_Mutation_p.T188A	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	202	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTGACCATAACCGTCTTCAC	0.398																																						.											0			GRCh37	CD053603	RUNX2	D							182.0	187.0	185.0					6																	45405707		2203	4300	6503	SO:0001583	missense	860			AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.604A>G	6.37:g.45405707A>G	ENSP00000360493:p.Thr202Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O14614|O14615|O95181	Missense_Mutation	SNP	ENST00000371438.1	37	CCDS43467.2	.	.	.	.	.	.	.	.	.	.	A	20.6	4.022536	0.75275	.	.	ENSG00000124813	ENST00000465038;ENST00000352853;ENST00000541979;ENST00000371438;ENST00000371436;ENST00000359524;ENST00000371432	D;D;D;D;D;D;D	0.99436	-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9	5.4	5.4	0.78164	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99548	0.9838	M	0.87758	2.905	0.80722	D	1	D;D;P	0.64830	0.992;0.994;0.693	D;D;P	0.85130	0.993;0.997;0.662	D	0.98173	1.0453	10	0.87932	D	0	-7.2818	15.7246	0.77743	1.0:0.0:0.0:0.0	.	270;202;188	F6RGB9;Q13950;Q13950-2	.;RUNX2_HUMAN;.	A	202;270;270;202;202;188;188	ENSP00000420707:T202A;ENSP00000319087:T270A;ENSP00000446290:T270A;ENSP00000360493:T202A;ENSP00000360491:T202A;ENSP00000352514:T188A;ENSP00000360486:T188A	ENSP00000319087:T270A	T	+	1	0	RUNX2	45513685	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.283000	0.95860	2.161000	0.67846	0.482000	0.46254	ACC		0.398	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348	
WWP1	11059	broad.mit.edu;hgsc.bcm.edu;ucsc.edu;mdanderson.org;bcgsc.ca	37	8	87410805	87410805	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:87410805A>C	ENST00000517970.1	+	7	784	c.477A>C	c.(475-477)gaA>gaC	p.E159D	WWP1_ENST00000349423.2_Intron|WWP1_ENST00000265428.4_Missense_Mutation_p.E159D|WWP1_ENST00000341922.2_Intron	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	159					central nervous system development (GO:0007417)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GTTCAGTAGAAATACAGGAAA	0.333																																						.											0													96.0	97.0	97.0					8																	87410805		2203	4300	6503	SO:0001583	missense	11059			AY043361	CCDS6242.1	8q21.3	2013-07-22			ENSG00000123124	ENSG00000123124			17004	protein-coding gene	gene with protein product		602307				9169421, 9647693	Standard	NM_007013		Approved	AIP5, DKFZP434D2111	uc003ydt.3	Q9H0M0	OTTHUMG00000163690	ENST00000517970.1:c.477A>C	8.37:g.87410805A>C	ENSP00000427793:p.Glu159Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O00307|Q5YLC1|Q96BP4	Missense_Mutation	SNP	ENST00000517970.1	37	CCDS6242.1	.	.	.	.	.	.	.	.	.	.	A	13.08	2.129792	0.37630	.	.	ENSG00000123124	ENST00000517970;ENST00000265428	T;T	0.45276	0.9;0.9	5.3	5.3	0.74995	.	0.714266	0.13795	N	0.362248	T	0.37598	0.1009	L	0.44542	1.39	0.80722	D	1	B	0.13594	0.008	B	0.17433	0.018	T	0.13335	-1.0513	10	0.17369	T	0.5	.	15.5221	0.75874	1.0:0.0:0.0:0.0	.	159	Q9H0M0	WWP1_HUMAN	D	159	ENSP00000427793:E159D;ENSP00000265428:E159D	ENSP00000265428:E159D	E	+	3	2	WWP1	87479921	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.689000	0.74562	2.127000	0.65507	0.477000	0.44152	GAA		0.333	WWP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374755.1	NM_007013	
C5	727	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	9	123783821	123783821	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:123783821T>C	ENST00000223642.1	-	11	1297	c.1268A>G	c.(1267-1269)aAt>aGt	p.N423S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	423					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	AGATGGGAGATTAAGCACAAA	0.418																																						.											0													172.0	140.0	151.0					9																	123783821		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1268A>G	9.37:g.123783821T>C	ENSP00000223642:p.Asn423Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q14CJ0|Q27I61	Missense_Mutation	SNP	ENST00000223642.1	37	CCDS6826.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.353403	0.82243	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.36340	1.26	5.97	5.97	0.96955	.	0.041242	0.85682	D	0.000000	T	0.67154	0.2863	M	0.89715	3.055	0.47183	D	0.999349	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.994	T	0.71866	-0.4463	10	0.44086	T	0.13	.	15.642	0.77012	0.0:0.0:0.0:1.0	.	494;423	Q59GS8;P01031	.;CO5_HUMAN	S	423;494	ENSP00000223642:N423S	ENSP00000223642:N423S	N	-	2	0	C5	122823642	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.307000	0.65762	2.288000	0.76882	0.533000	0.62120	AAT		0.418	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735	
GLUD2	2747	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	X	120182071	120182071	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:120182071C>T	ENST00000328078.1	+	1	610	c.533C>T	c.(532-534)cCg>cTg	p.P178L		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	178					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						GTTGATGTGCCGTTTGGGGGT	0.453																																						.											0													118.0	91.0	100.0					X																	120182071		2203	4300	6503	SO:0001583	missense	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.533C>T	X.37:g.120182071C>T	ENSP00000327589:p.Pro178Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8G0|Q9UDQ4	Missense_Mutation	SNP	ENST00000328078.1	37	CCDS14603.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877132	0.17395	.	.	ENSG00000182890	ENST00000328078	D	0.97688	-4.49	1.62	0.69	0.18039	Glutamate/phenylalanine/leucine/valine dehydrogenase, dimerisation domain (1);	0.000000	0.85682	D	0.000000	D	0.98940	0.9640	H	0.98769	4.325	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.96735	0.9542	10	0.87932	D	0	.	4.7803	0.13199	0.3626:0.6374:0.0:0.0	.	178	P49448	DHE4_HUMAN	L	178	ENSP00000327589:P178L	ENSP00000327589:P178L	P	+	2	0	GLUD2	120009752	0.986000	0.35501	0.370000	0.25965	0.080000	0.17528	1.818000	0.39012	0.175000	0.19841	0.472000	0.43445	CCG		0.453	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058133.1	NM_012084	
KCTD1	284252	hgsc.bcm.edu	37	18	24127106	24127106	+	Intron	SNP	C	C	T	rs554790375		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr18:24127106C>T	ENST00000408011.3	-	1	545				KCTD1_ENST00000580059.1_5'Flank|KCTD1_ENST00000417602.1_Silent_p.A465A|KCTD1_ENST00000317932.7_Intron|KCTD1_ENST00000579973.1_Intron	NM_001136205.2	NP_001129677.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|protein homooligomerization (GO:0051260)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			TGCCAATGCCCGCGATGCTGT	0.682																																						.											0													20.0	23.0	22.0					18																	24127106		692	1591	2283	SO:0001627	intron_variant	284252			AF542549	CCDS11888.1	18q11.2	2013-09-20	2013-06-20		ENSG00000134504	ENSG00000134504			18249	protein-coding gene	gene with protein product		613420	"""potassium channel tetramerisation domain containing 1"""	C18orf5			Standard	NM_001142730		Approved		uc010xbj.3	Q719H9	OTTHUMG00000131947	ENST00000408011.3:c.14+1748G>A	18.37:g.24127106C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1F5	Silent	SNP	ENST00000408011.3	37	CCDS11888.1																																																																																				0.682	KCTD1-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000446265.1	XM_209091	
LINC01205	401082	broad.mit.edu;hgsc.bcm.edu;mdanderson.org	37	3	109129037	109129037	+	lincRNA	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:109129037C>T	ENST00000497996.1	+	0	201																											GGTGCGGCGGCGGCTGCGAAC	0.507																																						.											0													21.0	27.0	25.0					3																	109129037		692	1591	2283			0																															3.37:g.109129037C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000497996.1	37																																																																																					0.507	RP11-702L6.4-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353892.1		
HCLS1	3059	hgsc.bcm.edu	37	3	121351315	121351315	+	Silent	SNP	G	G	A	rs150627065|rs372720825|rs80289672	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:121351315G>A	ENST00000314583.3	-	12	1195	c.1104C>T	c.(1102-1104)ccC>ccT	p.P368P	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Silent_p.P331P	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	368					actin filament polymerization (GO:0030041)|cellular response to cytokine stimulus (GO:0071345)|erythrocyte differentiation (GO:0030218)|intracellular signal transduction (GO:0035556)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell proliferation (GO:0008284)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|regulation of actin filament polymerization (GO:0030833)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	protein kinase binding (GO:0019901)|RNA polymerase II transcription factor binding (GO:0001085)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		gctcaggctcgggctcaggct	0.607																																						.											0			GRCh37	CI045897	HCLS1	I	rs80289672						145.0	140.0	142.0					3																	121351315		2203	4300	6503	SO:0001819	synonymous_variant	3059				CCDS3003.1	3q13	2007-08-03			ENSG00000180353	ENSG00000180353			4844	protein-coding gene	gene with protein product	"""cortactin-like"""	601306				8978766, 15710041	Standard	NM_001292041		Approved	HS1, CTTNL	uc003eeh.4	P14317	OTTHUMG00000159409	ENST00000314583.3:c.1104C>T	3.37:g.121351315G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DQ69|Q53Y93|Q6IBK9|Q9UDK0	Silent	SNP	ENST00000314583.3	37	CCDS3003.1																																																																																				0.607	HCLS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355144.1	NM_005335	
COL7A1	1294	hgsc.bcm.edu;ucsc.edu	37	3	48602898	48602898	+	Silent	SNP	G	G	A	rs116591500	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:48602898G>A	ENST00000328333.8	-	115	8579	c.8472C>T	c.(8470-8472)gcC>gcT	p.A2824A	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000454817.1_Silent_p.A2792A|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2824	Nonhelical region (NC2).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGGAGCCGGCAGTGTCTG	0.652													G|||	13	0.00259585	0.0098	0.0	5008	,	,		17924	0.0		0.0	False		,,,				2504	0.0					.											0								G		35,4371	38.4+/-70.7	0,35,2168	32.0	37.0	35.0		8472	-6.8	0.0	3	dbSNP_132	35	0,8600		0,0,4300	no	coding-synonymous	COL7A1	NM_000094.3		0,35,6468	AA,AG,GG		0.0,0.7944,0.2691		2824/2945	48602898	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8472C>T	3.37:g.48602898G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14054|Q16507	Silent	SNP	ENST00000328333.8	37	CCDS2773.1																																																																																				0.652	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
WDR49	151790	hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	3	167245753	167245753	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:167245753A>T	ENST00000308378.3	-	11	1708	c.1403T>A	c.(1402-1404)aTa>aAa	p.I468K	WDR49_ENST00000476376.1_Missense_Mutation_p.I293K|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	468										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						GAATGATCTTATCAGAGTTGG	0.398																																						.											0													164.0	153.0	157.0					3																	167245753		2203	4300	6503	SO:0001583	missense	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1403T>A	3.37:g.167245753A>T	ENSP00000311343:p.Ile468Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	11.91	1.779596	0.31502	.	.	ENSG00000174776	ENST00000308378;ENST00000476376	T;T	0.37915	1.43;1.17	5.47	5.47	0.80525	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.916062	0.09445	N	0.801255	T	0.34571	0.0902	L	0.47716	1.5	0.58432	D	0.999999	B	0.30068	0.267	B	0.24701	0.055	T	0.05599	-1.0875	10	0.39692	T	0.17	.	13.08	0.59109	1.0:0.0:0.0:0.0	.	468	Q8IV35	WDR49_HUMAN	K	468;293	ENSP00000311343:I468K;ENSP00000420508:I293K	ENSP00000311343:I468K	I	-	2	0	WDR49	168728447	0.941000	0.31946	0.005000	0.12908	0.018000	0.09664	4.671000	0.61590	2.083000	0.62718	0.445000	0.29226	ATA		0.398	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
HCN1	348980	broad.mit.edu;hgsc.bcm.edu	37	5	45262024	45262025	+	Stop_Codon_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262024_45262025insA	ENST00000303230.4	-	0	2728_2729					NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGCAGGGATCATAAATTTGAA	0.431																																						.											0																																										SO:0001567	stop_retained_variant	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2672dupT	5.37:g.45262025_45262025dupA	ENSP00000307342:p.*891Leuext*35	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.431	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
HCN1	348980	hgsc.bcm.edu;bcgsc.ca	37	5	45262026	45262026	+	Missense_Mutation	SNP	T	T	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262026T>A	ENST00000303230.4	-	8	2727	c.2670A>T	c.(2668-2670)ttA>ttT	p.L890F		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	890					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCAGGGATCATAAATTTGAAG	0.433																																						.											0													86.0	101.0	96.0					5																	45262026		2202	4300	6502	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2670A>T	5.37:g.45262026T>A	ENSP00000307342:p.Leu890Phe	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	T	16.33	3.093047	0.56075	.	.	ENSG00000164588	ENST00000303230	D	0.98550	-4.99	5.01	5.01	0.66863	.	0.000000	0.49305	D	0.000146	D	0.97439	0.9162	L	0.29908	0.895	0.41621	D	0.988966	D	0.64830	0.994	P	0.58077	0.832	D	0.98805	1.0741	10	0.87932	D	0	.	15.0368	0.71754	0.0:0.0:0.0:1.0	.	890	O60741	HCN1_HUMAN	F	890	ENSP00000307342:L890F	ENSP00000307342:L890F	L	-	3	2	HCN1	45297783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.629000	0.54266	2.013000	0.59113	0.529000	0.55759	TTA		0.433	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
CFAP69	79846	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	7	89937126	89937126	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:89937126G>T	ENST00000389297.4	+	21	2759	c.2508G>T	c.(2506-2508)tgG>tgT	p.W836C	C7orf63_ENST00000497910.1_Missense_Mutation_p.W818C|C7orf63_ENST00000316089.8_Missense_Mutation_p.W790C	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		836										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATAAATCATGGGAAGATTTCT	0.328																																						.											0													65.0	64.0	65.0					7																	89937126		1840	4099	5939	SO:0001583	missense	79846																														ENST00000389297.4:c.2508G>T	7.37:g.89937126G>T	ENSP00000373948:p.Trp836Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.29|18.29	3.590328|3.590328	0.66105|0.66105	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000412839;ENST00000445156|ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577	.|T;T;T;T	.|0.25912	.|2.37;2.32;2.37;1.77	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.54255	.|0.1847	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|0.999;1.0	.|D;D	.|0.91635	.|0.989;0.999	.|T	.|0.59643	.|-0.7416	.|10	.|0.87932	.|D	.|0	-4.9045|-4.9045	17.6621|17.6621	0.88195|0.88195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|818;836	.|A5D8W1-5;A5D8W1	.|.;CG063_HUMAN	X|C	65;23|836;790;818;373	.|ENSP00000373948:W836C;ENSP00000321753:W790C;ENSP00000419549:W818C;ENSP00000391571:W373C	.|ENSP00000321753:W790C	G|W	+|+	1|3	0|0	C7orf63|C7orf63	89775062|89775062	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	7.025000|7.025000	0.76449|0.76449	2.407000|2.407000	0.81776|0.81776	0.650000|0.650000	0.86243|0.86243	GGA|TGG		0.328	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
SCRIB	23513	broad.mit.edu;hgsc.bcm.edu;mdanderson.org;bcgsc.ca	37	8	144890886	144890886	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:144890886G>A	ENST00000320476.3	-	15	2014	c.2008C>T	c.(2008-2010)Cag>Tag	p.Q670*	SCRIB_ENST00000356994.2_Nonsense_Mutation_p.Q670*|SCRIB_ENST00000377533.3_Nonsense_Mutation_p.Q589*	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	670	Glu-rich.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			tcctcctcctgaggactaccc	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	.											0													89.0	84.0	86.0					8																	144890886		2203	4300	6503	SO:0001587	stop_gained	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2008C>T	8.37:g.144890886G>A	ENSP00000322938:p.Gln670*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Nonsense_Mutation	SNP	ENST00000320476.3	37	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	g	36	5.722268	0.96839	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	.	.	.	1.38	-0.764	0.11027	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	5.1013	0.14760	0.0:0.2124:0.5761:0.2115	.	.	.	.	X	670;670;589;39	.	ENSP00000322938:Q670X	Q	-	1	0	SCRIB	144962874	0.000000	0.05858	0.085000	0.20634	0.044000	0.14063	-0.134000	0.10436	0.194000	0.20326	0.197000	0.17608	CAG		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356	
TAPBPL	55080	broad.mit.edu;mdanderson.org	37	12	6567817	6567817	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:6567817C>T	ENST00000266556.7	+	5	1076	c.911C>T	c.(910-912)cCt>cTt	p.P304L	TAPBPL_ENST00000544021.1_Silent_p.P185P|TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	304	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						CCAGCTTCCCCTAAAGTACGA	0.517																																						.											0													119.0	111.0	114.0					12																	6567817		2203	4300	6503	SO:0001583	missense	55080			AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.911C>T	12.37:g.6567817C>T	ENSP00000266556:p.Pro304Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NWB8	Missense_Mutation	SNP	ENST00000266556.7	37	CCDS8546.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461576	0.63513	.	.	ENSG00000139192	ENST00000266556	T	0.58358	0.34	5.05	5.05	0.67936	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78099	-0.2336	10	0.87932	D	0	-27.2797	14.2963	0.66316	0.0:1.0:0.0:0.0	.	304	Q9BX59	TPSNR_HUMAN	L	304	ENSP00000266556:P304L	ENSP00000266556:P304L	P	+	2	0	TAPBPL	6438078	0.893000	0.30496	0.994000	0.49952	0.314000	0.28054	2.808000	0.47963	2.521000	0.84997	0.650000	0.86243	CCT		0.517	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399263.1	NM_018009	
TMEM132B	114795	broad.mit.edu;mdanderson.org	37	12	126138173	126138173	+	Silent	SNP	C	C	T	rs368152539		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:126138173C>T	ENST00000299308.3	+	9	2162	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y	TMEM132B_ENST00000535886.1_Silent_p.Y230Y	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	718						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TAGACATTTACGATCCTAAGG	0.403																																						.											0								C		0,3812		0,0,1906	120.0	115.0	117.0		2154	-5.7	0.3	12		117	2,8228		0,2,4113	no	coding-synonymous	TMEM132B	NM_052907.2		0,2,6019	TT,TC,CC		0.0243,0.0,0.0166		718/1079	126138173	2,12040	1906	4115	6021	SO:0001819	synonymous_variant	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.2154C>T	12.37:g.126138173C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	ENST00000299308.3	37	CCDS41859.1																																																																																				0.403	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1	NM_052907	
GOLGA6L6	727832	broad.mit.edu	37	15	20740108	20740108	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:20740108delT	ENST00000427390.2	-	8	1732	c.1642delA	c.(1642-1644)aggfs	p.R548fs		NM_001145004.1	NP_001138476.1	A8MZA4	GG6L6_HUMAN	golgin A6 family-like 6	548	Gln-rich.|Glu-rich.									NS(3)|endometrium(4)|kidney(1)|skin(3)	11						tcttcctccctccacatctcc	0.557																																						.											0													51.0	58.0	56.0					15																	20740108		678	1551	2229	SO:0001589	frameshift_variant	727832			AK093450	CCDS45184.1	15q11.2	2014-02-12	2010-02-12		ENSG00000215405	ENSG00000277322			37225	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 6"""				Standard	NM_001145004		Approved	FLJ36131	uc001ytk.2	A8MZA4	OTTHUMG00000171663	ENST00000427390.2:c.1642delA	15.37:g.20740108delT	ENSP00000398615:p.Arg548fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3YTC0	Frame_Shift_Del	DEL	ENST00000427390.2	37	CCDS45184.1																																																																																				0.557	GOLGA6L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414660.3	NM_001145004	
KIAA0355	9710	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	34818401	34818401	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:34818401C>T	ENST00000299505.6	+	4	1654	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	261										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CTTTTGTTCTCAAAGTGCAGC	0.403																																						.											0													107.0	116.0	113.0					19																	34818401		2203	4300	6503	SO:0001587	stop_gained	9710				CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.781C>T	19.37:g.34818401C>T	ENSP00000299505:p.Gln261*	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3W4	Nonsense_Mutation	SNP	ENST00000299505.6	37	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	C	44	11.257385	0.99537	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.46	5.46	0.80206	.	0.120985	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.9959	19.3067	0.94165	0.0:1.0:0.0:0.0	.	.	.	.	X	261	.	ENSP00000299505:Q261X	Q	+	1	0	KIAA0355	39510241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.775000	0.68915	2.580000	0.87095	0.544000	0.68410	CAA		0.403	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
COX7A1	1346	broad.mit.edu;mdanderson.org;bcgsc.ca	37	19	36642385	36642385	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:36642385T>C	ENST00000292907.3	-	3	627	c.166A>G	c.(166-168)Aca>Gca	p.T56A	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	56					generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCGTCATTGTCACTCGGTAC	0.622																																						.											0													190.0	145.0	160.0					19																	36642385		2203	4300	6503	SO:0001583	missense	1346			BC002757	CCDS12490.1	19q13.1	2011-07-04			ENSG00000161281	ENSG00000161281	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2287	protein-coding gene	gene with protein product		123995		COX7A		1327965, 2550906	Standard	NM_001864		Approved	COX7AH	uc002odm.1	P24310	OTTHUMG00000048144	ENST00000292907.3:c.166A>G	19.37:g.36642385T>C	ENSP00000292907:p.Thr56Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000292907.3	37	CCDS12490.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	t|t	19.91|19.91	3.914076|3.914076	0.72983|0.72983	.|.	.|.	ENSG00000161281|ENSG00000161281	ENST00000292907|ENST00000437291	T|.	0.62941|.	-0.01|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.41581|.	0.1165|.	.|.	.|.	.|.	0.28372|0.28372	N|N	0.919952|0.919952	D|.	0.76494|.	0.999|.	D|.	0.85130|.	0.997|.	T|.	0.33574|.	-0.9863|.	9|.	0.66056|.	D|.	0.02|.	-15.061|-15.061	11.4831|11.4831	0.50337|0.50337	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	56|.	P24310|.	CX7A1_HUMAN|.	A|W	56|85	ENSP00000292907:T56A|.	ENSP00000292907:T56A|.	T|X	-|-	1|3	0|0	COX7A1|COX7A1	41334225|41334225	0.998000|0.998000	0.40836|0.40836	0.422000|0.422000	0.26621|0.26621	0.003000|0.003000	0.03518|0.03518	3.916000|3.916000	0.56416|0.56416	1.962000|1.962000	0.57031|0.57031	0.520000|0.520000	0.50463|0.50463	ACA|TGA		0.622	COX7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109545.2	NM_001864	
MRPS12	6183	broad.mit.edu	37	19	39421914	39421914	+	Splice_Site	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:39421914A>G	ENST00000308018.4	+	2	451		c.e2-1		MRPS12_ENST00000402029.3_Splice_Site|SARS2_ENST00000221431.6_5'Flank|MRPS12_ENST00000407800.2_5'UTR|SARS2_ENST00000448145.2_Intron|SARS2_ENST00000430193.3_5'Flank|SARS2_ENST00000600042.1_5'Flank|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000594171.1_5'Flank	NM_033362.3	NP_203526.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12						translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCCCTACCACAGGGACGGCCC	0.547																																						.											0													146.0	149.0	148.0					19																	39421914		2203	4300	6503	SO:0001630	splice_region_variant	6183			Y11681	CCDS12525.1	19q13.1-q13.2	2012-09-13			ENSG00000128626	ENSG00000128626		"""Mitochondrial ribosomal proteins / small subunits"""	10380	protein-coding gene	gene with protein product		603021		RPMS12		9545647, 9790755	Standard	NM_021107		Approved	RPS12, RPSM12	uc002oke.3	O15235		ENST00000308018.4:c.-19-1A>G	19.37:g.39421914A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q53X98	Splice_Site	SNP	ENST00000308018.4	37	CCDS12525.1																																																																																				0.547	MRPS12-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463152.2		Intron
ANKRD30BL	554226	broad.mit.edu	37	2	132919171	132919171	+	Silent	SNP	A	A	G	rs199695856		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:132919171A>G	ENST00000409867.1	-	1	357	c.108T>C	c.(106-108)caT>caC	p.H36H	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	36										endometrium(1)|kidney(3)	4						TGAGATCCCCATGGTGAATCA	0.582																																						.											0																																										SO:0001819	synonymous_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.108T>C	2.37:g.132919171A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																					0.582	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
ANKRD30BL	554226	broad.mit.edu;mdanderson.org	37	2	132919192	132919192	+	Silent	SNP	G	G	A	rs111295191		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:132919192G>A	ENST00000409867.1	-	1	336	c.87C>T	c.(85-87)aaC>aaT	p.N29N	ANKRD30BL_ENST00000470729.1_Intron			A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like	29										endometrium(1)|kidney(3)	4						CGTAAGAGTCGTTGTTGGTGT	0.602																																						.											0																																										SO:0001819	synonymous_variant	554226					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000409867.1:c.87C>T	2.37:g.132919192G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZL7	RNA	SNP	ENST00000409867.1	37																																																																																					0.602	ANKRD30BL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331353.2	NR_027019	
CSRNP3	80034	broad.mit.edu;mdanderson.org	37	2	166532972	166532972	+	Missense_Mutation	SNP	C	C	T	rs150240455		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:166532972C>T	ENST00000342316.4	+	4	831	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000314499.7_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493																																						.											0													155.0	158.0	157.0					2																	166532972		2203	4300	6503	SO:0001583	missense	80034			AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.559C>T	2.37:g.166532972C>T	ENSP00000344042:p.Arg187Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	37	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.618124	0.87359	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000342316;ENST00000409420	T;T;T;T	0.18657	2.2;2.2;2.2;2.2	5.77	3.92	0.45320	.	0.137201	0.50627	D	0.000118	T	0.48696	0.1514	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.55341	-0.8156	10	0.87932	D	0	-8.8202	14.7122	0.69241	0.2369:0.7631:0.0:0.0	.	187	Q8WYN3	CSRN3_HUMAN	C	187;194;187;187;219	ENSP00000412081:R187C;ENSP00000318258:R187C;ENSP00000344042:R187C;ENSP00000387195:R219C	ENSP00000318258:R187C	R	+	1	0	CSRNP3	166241218	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.209000	0.51122	0.847000	0.35167	0.655000	0.94253	CGT		0.493	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
UCKL1	54963	broad.mit.edu	37	20	62576011	62576011	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:62576011delT	ENST00000354216.6	-	6	773	c.731delA	c.(730-732)gagfs	p.E244fs	UCKL1_ENST00000369908.5_Frame_Shift_Del_p.E229fs|MIR647_ENST00000384823.1_RNA|UCKL1_ENST00000492660.1_5'Flank|UCKL1_ENST00000369892.3_Frame_Shift_Del_p.E244fs|UCKL1_ENST00000358711.3_Frame_Shift_Del_p.E244fs	NM_017859.3	NP_060329.2	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	244					CTP salvage (GO:0044211)|UMP salvage (GO:0044206)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|uridine kinase activity (GO:0004849)			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCGGCCGCGCTCACTGATGTC	0.602																																						.											0													123.0	79.0	94.0					20																	62576011		2199	4298	6497	SO:0001589	frameshift_variant	54963			AK000524	CCDS13547.1, CCDS54479.1	20q13.33	2012-09-20	2004-07-13	2004-07-13	ENSG00000198276	ENSG00000198276			15938	protein-coding gene	gene with protein product		610866	"""uridine kinase-like 1"""	URKL1			Standard	NM_017859		Approved	FLJ20517	uc010gkn.3	Q9NWZ5	OTTHUMG00000033003	ENST00000354216.6:c.731delA	20.37:g.62576011delT	ENSP00000346155:p.Glu244fs	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z8N2|Q5JWV0|Q70AQ5|Q8N524|Q9H3Z2	Frame_Shift_Del	DEL	ENST00000354216.6	37	CCDS13547.1																																																																																				0.602	UCKL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080236.1	NM_017859	
ALG3	10195	broad.mit.edu;mdanderson.org	37	3	183960376	183960376	+	Missense_Mutation	SNP	C	C	T	rs375976807		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:183960376C>T	ENST00000397676.3	-	9	1273	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	MIR1224_ENST00000408193.1_RNA|ALG3_ENST00000463495.1_5'Flank|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000455059.1_Missense_Mutation_p.V375I|ALG3_ENST00000418734.2_Missense_Mutation_p.V359I|ALG3_ENST00000445626.2_Missense_Mutation_p.V367I	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	415					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCAGGATGACGGCATGGCAT	0.592																																						.											0								C	ILE/VAL,ILE/VAL	0,4082		0,0,2041	63.0	68.0	66.0		1099,1243	4.6	0.9	3		66	1,8435		0,1,4217	no	missense,missense	ALG3	NM_001006941.2,NM_005787.5	29,29	0,1,6258	TT,TC,CC		0.0119,0.0,0.0080	benign,benign	367/391,415/439	183960376	1,12517	2041	4218	6259	SO:0001583	missense	10195			BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.1243G>A	3.37:g.183960376C>T	ENSP00000380793:p.Val415Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8JZZ6|Q9BT71	Missense_Mutation	SNP	ENST00000397676.3	37	CCDS46968.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.826|4.826	0.153562|0.153562	0.09185|0.09185	0.0|0.0	1.19E-4|1.19E-4	ENSG00000214160|ENSG00000214160	ENST00000446569|ENST00000418734;ENST00000397676;ENST00000445626;ENST00000455059	.|D;D;D;D	.|0.87029	.|-1.63;-2.2;-2.03;-2.04	5.5|5.5	4.63|4.63	0.57726|0.57726	.|.	.|0.318671	.|0.29225	.|N	.|0.012761	T|T	0.73567|0.73567	0.3603|0.3603	N|N	0.19112|0.19112	0.55|0.55	0.32933|0.32933	D|D	0.517347|0.517347	.|B;B;B;B	.|0.12013	.|0.004;0.005;0.0;0.001	.|B;B;B;B	.|0.04013	.|0.001;0.001;0.001;0.001	T|T	0.66044|0.66044	-0.6021|-0.6021	5|10	.|0.05721	.|T	.|0.95	-15.9802|-15.9802	10.001|10.001	0.41929|0.41929	0.0:0.774:0.148:0.078|0.0:0.774:0.148:0.078	.|.	.|367;359;375;415	.|A8JZZ6;B4DS50;C9J7S5;Q92685	.|.;.;.;ALG3_HUMAN	H|I	318|359;415;367;375	.|ENSP00000402976:V359I;ENSP00000380793:V415I;ENSP00000402744:V367I;ENSP00000397613:V375I	.|ENSP00000380793:V415I	R|V	-|-	2|1	0|0	ALG3|ALG3	185443070|185443070	0.285000|0.285000	0.24296|0.24296	0.944000|0.944000	0.38274|0.38274	0.699000|0.699000	0.40488|0.40488	0.758000|0.758000	0.26447|0.26447	1.323000|1.323000	0.45263|0.45263	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.592	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787	
MUC4	4585	broad.mit.edu;mdanderson.org	37	3	195506822	195506822	+	Missense_Mutation	SNP	C	C	T	rs548381050	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195506822C>T	ENST00000463781.3	-	2	12088	c.11629G>A	c.(11629-11631)Ggc>Agc	p.G3877S	MUC4_ENST00000475231.1_Missense_Mutation_p.G3877S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAAGGCCGGTAACAGGA	0.587													.|||	20	0.00399361	0.0083	0.0014	5008	,	,		8696	0.002		0.004	False		,,,				2504	0.002					.											0													16.0	13.0	14.0					3																	195506822		571	1540	2111	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11629G>A	3.37:g.195506822C>T	ENSP00000417498:p.Gly3877Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	4.950	0.176526	0.09443	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33865	1.39;1.5	.	.	.	.	.	.	.	.	T	0.14270	0.0345	N	0.14661	0.345	0.09310	N	1	B	0.21905	0.062	B	0.04013	0.001	T	0.16630	-1.0396	7	.	.	.	.	2.1866	0.03888	0.0:0.3341:0.3337:0.3322	.	3749	E7ESK3	.	S	3877	ENSP00000417498:G3877S;ENSP00000420243:G3877S	.	G	-	1	0	MUC4	196991601	0.000000	0.05858	0.007000	0.13788	0.007000	0.05969	-0.238000	0.08977	-2.037000	0.00920	-2.088000	0.00374	GGC		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
NACAD	23148	broad.mit.edu	37	7	45123697	45123697	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:45123697C>T	ENST00000490531.2	-	2	2101	c.2082G>A	c.(2080-2082)tcG>tcA	p.S694S		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	694					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						TTGGGGCTGACGAGAGATCTG	0.632																																						.											0													1.0	1.0	1.0					7																	45123697		51	296	347	SO:0001819	synonymous_variant	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2082G>A	7.37:g.45123697C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000490531.2	37	CCDS47582.1																																																																																				0.632	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353652.2	NM_001146334	
CLDN3	1365	broad.mit.edu;mdanderson.org	37	7	73184305	73184305	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:73184305C>T	ENST00000395145.2	-	1	295	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_001306.3	NP_001297.1	O15551	CLD3_HUMAN	claudin 3	25					calcium-independent cell-cell adhesion (GO:0016338)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)|transmembrane signaling receptor activity (GO:0004888)			kidney(1)|lung(1)	2		Lung NSC(55;0.159)				ACATGGGCAACGCGCAGCACA	0.672																																						.											0													45.0	38.0	40.0					7																	73184305		2203	4299	6502	SO:0001819	synonymous_variant	1365			AF007189	CCDS5559.1	7q11	2008-07-18			ENSG00000165215	ENSG00000165215		"""Claudins"""	2045	protein-coding gene	gene with protein product	"""Clostridium perfringens enterotoxin receptor 2"", ""ventral prostate.1-like protein"", ""claudin-3"", ""CPE-receptor 2"""	602910		C7orf1, CPETR2		9441748, 9892664	Standard	NM_001306		Approved	RVP1, CPE-R2, HRVP1	uc003tzg.4	O15551	OTTHUMG00000023424	ENST00000395145.2:c.75G>A	7.37:g.73184305C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000395145.2	37	CCDS5559.1																																																																																				0.672	CLDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252310.1	NM_001306	
MBTPS2	51360	broad.mit.edu	37	X	21896681	21896681	+	Frame_Shift_Del	DEL	A	A	-			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:21896681delA	ENST00000379484.5	+	9	1231	c.1132delA	c.(1132-1134)aaafs	p.K379fs		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	379	Cys-rich.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.S380fs*28(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						TAAAGACTGTAAAAAAAGCTC	0.328																																						.											1	Insertion - Frameshift(1)	lung(1)											106.0	106.0	106.0					X																	21896681		2203	4300	6503	SO:0001589	frameshift_variant	51360			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.1132delA	X.37:g.21896681delA	ENSP00000368798:p.Lys379fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q9UM70|Q9UMD3	Frame_Shift_Del	DEL	ENST00000379484.5	37	CCDS14201.1																																																																																				0.328	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056026.1		
PRRG3	79057	broad.mit.edu	37	X	150869347	150869348	+	Frame_Shift_Del	DEL	CT	CT	-	rs149812906	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:150869347_150869348delCT	ENST00000370353.3	+	4	928_929	c.538_539delCT	c.(538-540)ctcfs	p.L180fs	PRRG3_ENST00000538575.1_Frame_Shift_Del_p.L180fs			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	180						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCCTGAGCTCTCTCTCTCC	0.663																																						.											0																																										SO:0001589	frameshift_variant	79057			AK074574	CCDS14699.1	Xq28	2008-02-05			ENSG00000130032	ENSG00000130032			30798	protein-coding gene	gene with protein product		300685				11171957	Standard	NM_024082		Approved	TMG3	uc022cgt.1	Q9BZD7	OTTHUMG00000024170	ENST00000370353.3:c.538_539delCT	X.37:g.150869355_150869356delCT	ENSP00000359378:p.Leu180fs	Somatic		WXS	Illumina HiSeq	Phase_I	A1A523|A1A575|Q8N2N6	Frame_Shift_Del	DEL	ENST00000370353.3	37	CCDS14699.1																																																																																				0.663	PRRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060880.1	NM_024082	
KIAA1614	57710	broad.mit.edu	37	1	180910361	180910362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:180910361_180910362insC	ENST00000367588.4	+	7	3154_3155	c.3099_3100insC	c.(3100-3102)cccfs	p.P1034fs	RP11-46A10.5_ENST00000358073.2_RNA|KIAA1614_ENST00000461346.1_3'UTR|KIAA1614_ENST00000367587.1_Frame_Shift_Ins_p.P655fs	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1034	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGCAGTTGCAGCCCGCCCCGCC	0.658																																						.											0																																										SO:0001589	frameshift_variant	57710			AB046834	CCDS41442.1	1q25.3	2008-02-05			ENSG00000135835	ENSG00000135835			29327	protein-coding gene	gene with protein product							Standard	NM_020950		Approved		uc001gok.2	Q5VZ46	OTTHUMG00000035183	ENST00000367588.4:c.3102dupC	1.37:g.180910364_180910364dupC	ENSP00000356560:p.Pro1034fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VZ45|Q9HCF8	Frame_Shift_Ins	INS	ENST00000367588.4	37	CCDS41442.1																																																																																				0.658	KIAA1614-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085151.1	XM_046531	
Unknown	0	broad.mit.edu	37	11	89704425	89704426	+	IGR	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:89704425_89704426insA								TRIM49D1 (49490 upstream) : TRIM49C (59847 downstream)																							ATCAGCAAGGTGATTTTACACT	0.327																																						.											0																																										SO:0001628	intergenic_variant	120146																															11.37:g.89704425_89704426insA		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	INS		37																																																																																				0	0.327								
ARF3	377	broad.mit.edu	37	12	49332755	49332756	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:49332755_49332756insC	ENST00000256682.4	-	5	854_855	c.520_521insG	c.(520-522)gccfs	p.A174fs	ARF3_ENST00000447318.2_Frame_Shift_Ins_p.A137fs|ARF3_ENST00000541967.1_5'Flank|ARF3_ENST00000541959.1_Frame_Shift_Ins_p.A174fs|RP11-302B13.5_ENST00000398092.4_Intron|AC073610.5_ENST00000537495.1_Frame_Shift_Ins_p.A49fs	NM_001659.2	NP_001650.1	P61204	ARF3_HUMAN	ADP-ribosylation factor 3	174					GTP catabolic process (GO:0006184)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|skin(1)	4						GAGCTGATTGGCCAGCCAGTCC	0.584																																					Pancreas(189;1862 2134 4419 30933 49364)	.											0																																										SO:0001589	frameshift_variant	377			M74491	CCDS8774.1	12q13.12	2013-01-22			ENSG00000134287	ENSG00000134287		"""ADP-ribosylation factors"""	654	protein-coding gene	gene with protein product	"""small GTP binding protein"""	103190				8661066	Standard	NM_001659		Approved		uc001rsr.2	P61204	OTTHUMG00000168080	ENST00000256682.4:c.521dupG	12.37:g.49332757_49332757dupC	ENSP00000256682:p.Ala174fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6G8|B7ZB63|P16587	Frame_Shift_Ins	INS	ENST00000256682.4	37	CCDS8774.1																																																																																				0.584	ARF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258242.2	NM_001659	
ARHGAP11A	9824	broad.mit.edu	37	15	32908429	32908430	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:32908429_32908430insG	ENST00000361627.3	+	1	739_740	c.17_18insG	c.(16-21)ctggtgfs	p.V7fs	ARHGAP11A_ENST00000563330.1_3'UTR|ARHGAP11A_ENST00000543522.1_Intron|ARHGAP11A_ENST00000565905.1_Intron|ARHGAP11A_ENST00000563864.1_Frame_Shift_Ins_p.V7fs|AC123768.4_ENST00000576873.1_lincRNA|RP11-1000B6.5_ENST00000500941.2_lincRNA|ARHGAP11A_ENST00000567348.1_Frame_Shift_Ins_p.V7fs	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	7					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATCAGAGGCTGGTGAGGTTGG	0.554																																					Colon(45;757 1134 30003 36652)	.											0																																										SO:0001589	frameshift_variant	9824			D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.19dupG	15.37:g.32908431_32908431dupG	ENSP00000355090:p.Val7fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZN9|Q6PI96|Q9Y3S6	Frame_Shift_Ins	INS	ENST00000361627.3	37	CCDS10028.1																																																																																				0.554	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
CKMT1B	1159	broad.mit.edu	37	15	43890418	43890419	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:43890418_43890419insG	ENST00000441322.1	+	7	1264_1265	c.904_905insG	c.(904-906)tggfs	p.W302fs	CKMT1B_ENST00000300283.6_Frame_Shift_Ins_p.W302fs			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	302	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AGAACGTGGCTGGGAGTTCATG	0.49																																						.											0																																										SO:0001589	frameshift_variant	1159			AK094322, J04469	CCDS10097.1	15q15	2005-04-15		2005-04-15	ENSG00000237289	ENSG00000237289	2.7.3.2		1995	protein-coding gene	gene with protein product		123290	"""creatine kinase, mitochondrial 1 (ubiquitous)"""	CKMT, CKMT1			Standard	XM_005254150		Approved	UMTCK	uc001zsc.3	P12532	OTTHUMG00000059900	ENST00000441322.1:c.907dupG	15.37:g.43890421_43890421dupG	ENSP00000413255:p.Trp302fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIT8|B7ZA09|Q0VAM3|Q32NF6|Q53FC4	Frame_Shift_Ins	INS	ENST00000441322.1	37	CCDS10097.1																																																																																				0.490	CKMT1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133147.2	NM_020990	
HERC1	8925	broad.mit.edu	37	15	64017642	64017643	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:64017642_64017643insA	ENST00000443617.2	-	18	3503_3504	c.3416_3417insT	c.(3415-3417)gtgfs	p.V1139fs		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1139					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TTTCTAGATCCACAAGCCATAC	0.485																																						.											0																																										SO:0001589	frameshift_variant	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3417dupT	15.37:g.64017643_64017643dupA	ENSP00000390158:p.Val1139fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IW65	Frame_Shift_Ins	INS	ENST00000443617.2	37	CCDS45277.1																																																																																				0.485	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
ATMIN	23300	broad.mit.edu	37	16	81078086	81078087	+	Frame_Shift_Ins	INS	-	-	G	rs140077063		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:81078086_81078087insG	ENST00000299575.4	+	4	2007_2008	c.1983_1984insG	c.(1984-1986)gagfs	p.E662fs	ATMIN_ENST00000564241.1_Frame_Shift_Ins_p.E506fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000566488.1_Frame_Shift_Ins_p.E506fs	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	662					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCATGACCACCGAGCCAGTCTT	0.47																																						.											0																																										SO:0001589	frameshift_variant	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1984dupG	16.37:g.81078087_81078087dupG	ENSP00000299575:p.Glu662fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4H8|Q68DC9	Frame_Shift_Ins	INS	ENST00000299575.4	37	CCDS32494.1																																																																																				0.470	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251	
FHDC1	85462	broad.mit.edu	37	4	153896828	153896829	+	Frame_Shift_Ins	INS	-	-	G	rs372925250		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:153896828_153896829insG	ENST00000511601.1	+	12	2573_2574	c.2385_2386insG	c.(2386-2388)gggfs	p.G796fs	FHDC1_ENST00000260008.3_Frame_Shift_Ins_p.G796fs			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	796									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACCCAGAGGCGGGGACCCGGA	0.614																																						.											0																																										SO:0001589	frameshift_variant	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.2389dupG	4.37:g.153896832_153896832dupG	ENSP00000427567:p.Gly796fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000511601.1	37	CCDS34081.1																																																																																				0.614	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393	
FOXD4	2298	broad.mit.edu	37	9	117662	117663	+	Frame_Shift_Ins	INS	-	-	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:117662_117663insG	ENST00000382500.2	-	1	754_755	c.457_458insC	c.(457-459)cgcfs	p.R153fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	153					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGTTGTGGCGGATGCTGTTC	0.658																																						.											0																																										SO:0001589	frameshift_variant	2298			U13223	CCDS34975.1	9p24.3	2014-09-17			ENSG00000170122	ENSG00000170122		"""Forkhead boxes"""	3805	protein-coding gene	gene with protein product		601092		FKHL9		7957066, 8825632, 12234674	Standard	NM_207305		Approved	FREAC5, FOXD4a	uc003zfz.4	Q12950	OTTHUMG00000021015	ENST00000382500.2:c.458dupC	9.37:g.117664_117664dupG	ENSP00000371940:p.Arg153fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RN05|B9EGL7|Q5VVK1|Q8WXT6	Frame_Shift_Ins	INS	ENST00000382500.2	37	CCDS34975.1																																																																																				0.658	FOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055433.1	NM_207305	
SYTL5	94122	broad.mit.edu	37	X	37932872	37932873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:37932872_37932873insC	ENST00000357972.5	+	5	1021_1022	c.475_476insC	c.(475-477)accfs	p.T159fs	SYTL5_ENST00000297875.2_Frame_Shift_Ins_p.T159fs|SYTL5_ENST00000456733.2_Frame_Shift_Ins_p.T159fs|TM4SF2_ENST00000465127.1_Intron			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	159					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						CCAAGAGCAAACCCGCCAGGAT	0.446																																						.											0																																										SO:0001589	frameshift_variant	94122				CCDS14244.1, CCDS55399.1	Xp21.1	2008-02-05			ENSG00000147041	ENSG00000147041			15589	protein-coding gene	gene with protein product	"""exophilin 9"""						Standard	NM_138780		Approved		uc004ddx.3	Q8TDW5	OTTHUMG00000033176	ENST00000357972.5:c.478dupC	X.37:g.37932875_37932875dupC	ENSP00000350657:p.Thr159fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2RRF2	Frame_Shift_Ins	INS	ENST00000357972.5	37	CCDS14244.1																																																																																				0.446	SYTL5-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080883.1	NM_138780	
ACIN1	22985	ucsc.edu	37	14	23548787	23548787	+	Missense_Mutation	SNP	C	C	T	rs55838227|rs34870944|rs61741619	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:23548787C>T	ENST00000262710.1	-	6	2258	c.1931G>A	c.(1930-1932)cGt>cAt	p.R644H	ACIN1_ENST00000555352.1_5'Flank|ACIN1_ENST00000457657.1_Missense_Mutation_p.R604H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R586H|ACIN1_ENST00000555053.1_Missense_Mutation_p.R644H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	644	Ser-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S643_R644insHS(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TGAACGAGAACGTGAACGTGA	0.488																																						.											1	Insertion - In frame(1)	upper_aerodigestive_tract(1)											255.0	224.0	235.0					14																	23548787		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.1931G>A	14.37:g.23548787C>T	ENSP00000262710:p.Arg644His	Somatic		WXS	Illumina HiSeq	Phase_I	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061864	0.76187	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.30448	2.29;1.53;2.29	5.46	5.46	0.80206	.	0.000000	0.41001	D	0.000979	T	0.42720	0.1215	L	0.27053	0.805	0.36352	D	0.86012	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.984;0.984	T	0.50808	-0.8784	10	0.59425	D	0.04	-1.7144	14.8141	0.70017	0.0:1.0:0.0:0.0	.	644;644;604	G3V3M7;Q9UKV3;E7EQT4	.;ACINU_HUMAN;.	H	644;604;644	ENSP00000262710:R644H;ENSP00000405677:R604H;ENSP00000451328:R644H	ENSP00000262710:R644H	R	-	2	0	ACIN1	22618627	0.999000	0.42202	1.000000	0.80357	0.906000	0.53458	1.398000	0.34554	2.556000	0.86216	0.655000	0.94253	CGT		0.488	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
EVPL	2125	ucsc.edu;mdanderson.org	37	17	74017554	74017554	+	Missense_Mutation	SNP	G	G	T	rs74955334	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:74017554G>T	ENST00000301607.3	-	9	1259	c.1006C>A	c.(1006-1008)Cgc>Agc	p.R336S	EVPL_ENST00000586740.1_Missense_Mutation_p.R336S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	336	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.R336S(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTCACCCGGCGGTAGTCCTCC	0.701																																						.											1	Substitution - Missense(1)	prostate(1)											25.0	23.0	23.0					17																	74017554		2200	4298	6498	SO:0001583	missense	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1006C>A	17.37:g.74017554G>T	ENSP00000301607:p.Arg336Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586746	0.46110	.	.	ENSG00000167880	ENST00000301607	T	0.29655	1.56	4.5	3.51	0.40186	.	0.459912	0.19820	N	0.105333	T	0.28433	0.0703	M	0.63428	1.95	0.32128	P	0.587128	B;B	0.17667	0.023;0.019	B;B	0.15484	0.013;0.006	T	0.28902	-1.0029	9	0.46703	T	0.11	-3.2116	6.9071	0.24315	0.0912:0.0:0.6215:0.2873	.	336;336	B7ZLH8;Q92817	.;EVPL_HUMAN	S	336	ENSP00000301607:R336S	ENSP00000301607:R336S	R	-	1	0	EVPL	71529149	0.006000	0.16342	0.881000	0.34555	0.961000	0.63080	1.629000	0.37071	1.018000	0.39521	0.563000	0.77884	CGC		0.701	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
RIMS1	22999	ucsc.edu;mdanderson.org	37	6	72974700	72974700	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:72974700A>G	ENST00000521978.1	+	20	3139	c.3139A>G	c.(3139-3141)Aca>Gca	p.T1047A	RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000264839.7_Missense_Mutation_p.T1047A|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000523963.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1047					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCACTATAAAACATTACCTCC	0.363																																						.											0													55.0	51.0	53.0					6																	72974700		1846	4089	5935	SO:0001583	missense	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.3139A>G	6.37:g.72974700A>G	ENSP00000428417:p.Thr1047Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.665269	0.47677	.	.	ENSG00000079841	ENST00000350827;ENST00000264839;ENST00000521978	T;T	0.13901	2.6;2.55	5.76	5.76	0.90799	.	0.140657	0.31507	N	0.007539	T	0.02418	0.0074	N	0.08118	0	0.80722	D	1	B	0.26902	0.163	B	0.23852	0.049	T	0.21211	-1.0252	10	0.06236	T	0.91	-7.5353	16.0796	0.80995	1.0:0.0:0.0:0.0	.	1047	Q86UR5	RIMS1_HUMAN	A	1047	ENSP00000264839:T1047A;ENSP00000428417:T1047A	ENSP00000264839:T1047A	T	+	1	0	RIMS1	73031421	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.575000	0.60908	2.199000	0.70637	0.477000	0.44152	ACA		0.363	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
THAP2	83591	ucsc.edu	37	12	72067994	72067994	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:72067994A>T	ENST00000308086.2	+	2	1584	c.83A>T	c.(82-84)gAt>gTt	p.D28V	RP11-293I14.2_ENST00000548802.1_Missense_Mutation_p.D4V	NM_031435.3	NP_113623.1	Q9H0W7	THAP2_HUMAN	THAP domain containing, apoptosis associated protein 2	28						nucleolus (GO:0005730)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	10						TTTCCTTTGGATCCTAAAAGA	0.343																																						.											0													51.0	53.0	52.0					12																	72067994		2203	4300	6503	SO:0001583	missense	83591			BC008358	CCDS9001.1	12q21.1	2013-01-25				ENSG00000173451		"""THAP (C2CH-type zinc finger) domain containing"""	20854	protein-coding gene	gene with protein product		612531				12575992	Standard	NM_031435		Approved	DKFZP564I0422	uc001swq.3	Q9H0W7	OTTHUMG00000169556	ENST00000308086.2:c.83A>T	12.37:g.72067994A>T	ENSP00000310796:p.Asp28Val	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8P3	Missense_Mutation	SNP	ENST00000308086.2	37	CCDS9001.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044273	0.75732	.	.	ENSG00000173451	ENST00000308086	D	0.97161	-4.27	5.62	5.62	0.85841	Zinc finger, C2CH-type (4);	0.077148	0.50627	D	0.000112	D	0.97639	0.9226	L	0.58428	1.81	0.80722	D	1	D	0.63046	0.992	D	0.65443	0.935	D	0.98304	1.0520	10	0.87932	D	0	.	13.7768	0.63059	1.0:0.0:0.0:0.0	.	28	Q9H0W7	THAP2_HUMAN	V	28	ENSP00000310796:D28V	ENSP00000310796:D28V	D	+	2	0	THAP2	70354261	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.224000	0.51238	2.151000	0.67156	0.482000	0.46254	GAT		0.343	THAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404796.1	NM_031435	
ZNF366	167465	ucsc.edu;mdanderson.org;bcgsc.ca	37	5	71756876	71756876	+	Missense_Mutation	SNP	C	C	T	rs74552129	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:71756876C>T	ENST00000318442.5	-	2	938	c.448G>A	c.(448-450)Gtc>Atc	p.V150I		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	150					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCCTGCTTGACGGGCTTGCCC	0.637													C|||	66	0.0131789	0.0477	0.0043	5008	,	,		16704	0.0		0.0	False		,,,				2504	0.0					.											0								C	ILE/VAL	162,4244	109.9+/-148.2	5,152,2046	103.0	114.0	110.0		448	1.6	0.2	5	dbSNP_131	110	0,8600		0,0,4300	yes	missense	ZNF366	NM_152625.1	29	5,152,6346	TT,TC,CC		0.0,3.6768,1.2456	benign	150/745	71756876	162,12844	2203	4300	6503	SO:0001583	missense	167465			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.448G>A	5.37:g.71756876C>T	ENSP00000313158:p.Val150Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	CCDS4015.1	24	0.01098901098901099	22	0.044715447154471545	2	0.0055248618784530384	0	0.0	0	0.0	C	0.202	-1.043765	0.01997	0.036768	0.0	ENSG00000178175	ENST00000318442	T	0.32753	1.44	5.82	1.64	0.23874	.	0.389793	0.24703	N	0.036298	T	0.02888	0.0086	N	0.11201	0.11	0.23585	N	0.997353	B	0.10296	0.003	B	0.06405	0.002	T	0.21280	-1.0250	10	0.23302	T	0.38	-26.4553	7.2969	0.26397	0.0:0.4013:0.0:0.5987	.	150	Q8N895	ZN366_HUMAN	I	150	ENSP00000313158:V150I	ENSP00000313158:V150I	V	-	1	0	ZNF366	71792632	0.922000	0.31269	0.192000	0.23308	0.174000	0.22865	1.345000	0.33953	0.304000	0.22809	0.561000	0.74099	GTC		0.637	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3		
ABCA13	154664	mdanderson.org	37	7	48314279	48314279	+	Silent	SNP	G	G	A	rs6955212	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:48314279G>A	ENST00000435803.1	+	17	5040	c.5016G>A	c.(5014-5016)aaG>aaA	p.K1672K		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1672					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCCTTAAGAAGGCAGACATAG	0.393													G|||	968	0.193291	0.1498	0.2709	5008	,	,		22975	0.2153		0.1322	False		,,,				2504	0.2372					.											0								G		585,3223		48,489,1367	153.0	145.0	148.0		5016	2.3	0.3	7	dbSNP_116	148	1164,7050		92,980,3035	no	coding-synonymous	ABCA13	NM_152701.3		140,1469,4402	AA,AG,GG		14.1709,15.3624,14.5483		1672/5059	48314279	1749,10273	1904	4107	6011	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.5016G>A	7.37:g.48314279G>A		Somatic		WXS	Illumina HiSeq	Phase_I	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	ENST00000435803.1	37	CCDS47584.1																																																																																				0.393	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ACSS3	79611	mdanderson.org	37	12	81503481	81503481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:81503481C>T	ENST00000548058.1	+	2	1364	c.454C>T	c.(454-456)Cag>Tag	p.Q152*	ACSS3_ENST00000261206.3_Nonsense_Mutation_p.Q151*|RP11-543H12.1_ENST00000547123.1_RNA			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	152						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGTTCTGGAGCAGGTAATATC	0.303																																						.											0													65.0	66.0	66.0					12																	81503481		2202	4300	6502	SO:0001587	stop_gained	79611				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.454C>T	12.37:g.81503481C>T	ENSP00000449535:p.Gln152*	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NC66	Nonsense_Mutation	SNP	ENST00000548058.1	37	CCDS9022.1	.	.	.	.	.	.	.	.	.	.	C	38	7.006905	0.97998	.	.	ENSG00000111058	ENST00000549175;ENST00000548058;ENST00000261206	.	.	.	6.07	6.07	0.98685	.	0.051372	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-20.5427	19.4308	0.94765	0.0:1.0:0.0:0.0	.	.	.	.	X	44;152;151	.	ENSP00000261206:Q151X	Q	+	1	0	ACSS3	80027612	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.879000	0.48522	2.885000	0.99019	0.655000	0.94253	CAG		0.303	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407794.1	NM_024560	
AFAP1	60312	mdanderson.org	37	4	7770723	7770723	+	Silent	SNP	G	G	T	rs2285761	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:7770723G>T	ENST00000360265.4	-	15	2248	c.2014C>A	c.(2014-2016)Cgg>Agg	p.R672R	AFAP1_ENST00000358461.2_Silent_p.R672R|AFAP1_ENST00000513842.1_5'UTR|AFAP1-AS1_ENST00000608442.1_RNA|AFAP1_ENST00000382543.3_Silent_p.R756R|AFAP1_ENST00000420658.1_Silent_p.R756R			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	672						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCCGGTGCCGGAACACTGGA	0.557													T|||	1854	0.370208	0.264	0.3372	5008	,	,		16548	0.6567		0.1849	False		,,,				2504	0.4325					.											0								T	,	1053,3353	708.6+/-407.6	127,799,1277	75.0	90.0	85.0		2266,2014	1.0	0.1	4	dbSNP_100	85	1652,6948	736.1+/-407.0	175,1302,2823	no	coding-synonymous,coding-synonymous	AFAP1	NM_001134647.1,NM_198595.2	,	302,2101,4100	TT,TG,GG		19.2093,23.8992,20.7981	,	756/815,672/731	7770723	2705,10301	2203	4300	6503	SO:0001819	synonymous_variant	60312			AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.2014C>A	4.37:g.7770723G>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Silent	SNP	ENST00000360265.4	37	CCDS3397.1																																																																																				0.557	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638	
AHNAK2	113146	mdanderson.org	37	14	105418149	105418149	+	Silent	SNP	A	A	T	rs147978925	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:105418149A>T	ENST00000333244.5	-	7	3758	c.3639T>A	c.(3637-3639)atT>atA	p.I1213I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1213						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AAGGGGGCTGAATGCTGAGGT	0.647													.|||	1170	0.233626	0.0696	0.2882	5008	,	,		15080	0.0635		0.4583	False		,,,				2504	0.3609					.											0													99.0	72.0	81.0					14																	105418149		1918	3766	5684	SO:0001819	synonymous_variant	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3639T>A	14.37:g.105418149A>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	CCDS45177.1																																																																																				0.647	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK	79026	mdanderson.org	37	11	62293548	62293548	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:62293548C>T	ENST00000378024.4	-	5	8615	c.8341G>A	c.(8341-8343)Gga>Aga	p.G2781R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2781					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.G2781*(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACCTTCTCCTTTGAAGCCA	0.498																																						.											1	Substitution - Nonsense(1)	prostate(1)											211.0	209.0	210.0					11																	62293548		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8341G>A	11.37:g.62293548C>T	ENSP00000367263:p.Gly2781Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	17.18	3.322801	0.60634	.	.	ENSG00000124942	ENST00000378024	T	0.05447	3.44	4.05	4.05	0.47172	.	.	.	.	.	T	0.22704	0.0548	M	0.92833	3.35	0.25107	N	0.990747	P	0.48503	0.911	P	0.50082	0.63	T	0.35076	-0.9803	9	0.19147	T	0.46	.	16.2211	0.82258	0.0:1.0:0.0:0.0	.	2781	Q09666	AHNK_HUMAN	R	2781	ENSP00000367263:G2781R	ENSP00000367263:G2781R	G	-	1	0	AHNAK	62050124	0.080000	0.21391	0.985000	0.45067	0.687000	0.40016	0.757000	0.26433	1.964000	0.57103	0.298000	0.19748	GGA		0.498	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060	
ALDH1B1	219	mdanderson.org;bcgsc.ca	37	9	38396065	38396065	+	Missense_Mutation	SNP	G	G	T	rs2073478	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:38396065G>T	ENST00000377698.3	+	2	473	c.320G>T	c.(319-321)cGc>cTc	p.R107L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15164053, ECO:0000269|PubMed:8244338}.		carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)		CTGCTGAACCGCCTGGCAGAC	0.627													G|||	1978	0.394968	0.2572	0.3646	5008	,	,		17971	0.3036		0.6093	False		,,,				2504	0.4765					.											0								G	LEU/ARG	1354,3052	450.6+/-349.4	214,926,1063	80.0	89.0	86.0		320	2.8	1.0	9	dbSNP_96	86	5192,3408	639.3+/-399.4	1574,2044,682	yes	missense	ALDH1B1	NM_000692.4	102	1788,2970,1745	TT,TG,GG		39.6279,30.7308,49.6694	benign	107/518	38396065	6546,6460	2203	4300	6503	SO:0001583	missense	219			M63967	CCDS6615.1	9p13	2008-02-05			ENSG00000137124	ENSG00000137124	1.2.1.3	"""Aldehyde dehydrogenases"""	407	protein-coding gene	gene with protein product		100670		ALDH5		2061311	Standard	NM_000692		Approved	ALDHX	uc004aay.3	P30837	OTTHUMG00000019938	ENST00000377698.3:c.320G>T	9.37:g.38396065G>T	ENSP00000366927:p.Arg107Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R8F0|Q8WX76|Q9BV45	Missense_Mutation	SNP	ENST00000377698.3	37	CCDS6615.1	917	0.4198717948717949	140	0.2845528455284553	156	0.430939226519337	167	0.291958041958042	454	0.5989445910290238	G	17.79	3.476510	0.63737	0.307308	0.603721	ENSG00000137124	ENST00000377698	T	0.78246	-1.16	5.61	2.79	0.32731	.	0.182441	0.37761	N	0.001953	T	0.00012	0.0000	.	.	.	0.23563	P	0.99740854	.	.	.	.	.	.	T	0.48758	-0.9007	6	0.72032	D	0.01	.	7.7413	0.28843	0.1173:0.0:0.7444:0.1383	rs2073478;rs17844915;rs17857639;rs56596067;rs60107705;rs2073478	.	.	.	L	107	ENSP00000366927:R107L	ENSP00000366927:R107L	R	+	2	0	ALDH1B1	38386065	0.493000	0.26035	0.990000	0.47175	0.995000	0.86356	2.228000	0.42981	0.332000	0.23536	0.655000	0.94253	CGC		0.627	ALDH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052492.1		
ANAPC1	64682	mdanderson.org	37	2	112625615	112625615	+	Missense_Mutation	SNP	C	C	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:112625615C>G	ENST00000341068.3	-	7	1442	c.670G>C	c.(670-672)Gtt>Ctt	p.V224L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	224					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.V224L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GATTTACAAACAAGTGGAGTT	0.323																																						.											1	Substitution - Missense(1)	pancreas(1)											53.0	57.0	56.0					2																	112625615		2203	4297	6500	SO:0001583	missense	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.670G>C	2.37:g.112625615C>G	ENSP00000339109:p.Val224Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	CCDS2093.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.059198	0.76074	.	.	ENSG00000153107	ENST00000341068	.	.	.	4.32	4.32	0.51571	.	0.000000	0.39274	U	0.001404	T	0.61961	0.2389	L	0.33189	0.99	0.58432	D	0.999999	D	0.63046	0.992	D	0.77004	0.989	T	0.54925	-0.8220	9	0.02654	T	1	-23.1921	17.3402	0.87293	0.0:1.0:0.0:0.0	.	224	Q9H1A4	APC1_HUMAN	L	224	.	ENSP00000339109:V224L	V	-	1	0	ANAPC1	112342086	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.051000	0.49885	2.381000	0.81170	0.557000	0.71058	GTT		0.323	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662	
AQP7	364	mdanderson.org	37	9	33385667	33385667	+	Silent	SNP	A	A	G	rs79779983	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33385667A>G	ENST00000537089.1	-	6	765	c.447T>C	c.(445-447)ggT>ggC	p.G149G	AQP7_ENST00000377425.4_Silent_p.G184G|AQP7_ENST00000541274.1_Silent_p.L110L|AQP7_ENST00000539936.1_Silent_p.G241G			O14520	AQP7_HUMAN	aquaporin 7	241					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTTTGCCCCAACCAGCAATGA	0.592																																						.											0													67.0	75.0	73.0					9																	33385667		2203	4300	6503	SO:0001819	synonymous_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.447T>C	9.37:g.33385667A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000537089.1	37																																																																																					0.592	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
AQP7	364	mdanderson.org	37	9	33385690	33385690	+	Missense_Mutation	SNP	G	G	T	rs139024279		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33385690G>T	ENST00000537089.1	-	6	742	c.424C>A	c.(424-426)Cgc>Agc	p.R142S	AQP7_ENST00000377425.4_Missense_Mutation_p.R177S|AQP7_ENST00000541274.1_Missense_Mutation_p.P102Q|AQP7_ENST00000539936.1_Missense_Mutation_p.R234S			O14520	AQP7_HUMAN	aquaporin 7	234					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)	p.R234fs*35(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTGAAGATGCGGGGGGGCAGG	0.577																																						.											1	Insertion - Frameshift(1)	lung(1)											74.0	81.0	78.0					9																	33385690		2203	4300	6503	SO:0001583	missense	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.424C>A	9.37:g.33385690G>T	ENSP00000441619:p.Arg142Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	14.50|14.50	2.553881|2.553881	0.45487|0.45487	.|.	.|.	ENSG00000165269|ENSG00000165269	ENST00000541274|ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T|T;T;T;T;T;T;T;T;T	0.57273|0.13196	0.41|2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61	5.04|5.04	4.07|4.07	0.47477|0.47477	.|Aquaporin-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49474|0.49474	0.1559|0.1559	H|H	0.97315|0.97315	3.98|3.98	0.58432|0.58432	D|D	0.999997|0.999997	P|D;P;P;P	0.39216|0.55800	0.664|0.973;0.872;0.525;0.795	B|D;D;P;P	0.36289|0.67900	0.221|0.954;0.923;0.814;0.878	T|T	0.64550|0.64550	-0.6381|-0.6381	9|10	0.87932|0.66056	D|D	0|0.02	-16.683|-16.683	12.4686|12.4686	0.55773|0.55773	0.0:0.0:0.8227:0.1772|0.0:0.0:0.8227:0.1772	.|.	102|233;234;177;234	B7Z7F6|Q5T5M0;B7Z4U2;Q6P5T0;O14520	.|.;.;.;AQP7_HUMAN	Q|S	102|142;233;102;234;177;142;233;234;170	ENSP00000438860:P102Q|ENSP00000441619:R142S;ENSP00000368821:R233S;ENSP00000412868:R102S;ENSP00000297988:R234S;ENSP00000396111:R177S;ENSP00000410138:R142S;ENSP00000368820:R233S;ENSP00000439534:R234S;ENSP00000368817:R170S	ENSP00000438860:P102Q|ENSP00000297988:R234S	P|R	-|-	2|1	0|0	AQP7|AQP7	33375690|33375690	0.731000|0.731000	0.28111|0.28111	0.404000|0.404000	0.26397|0.26397	0.223000|0.223000	0.24884|0.24884	1.249000|1.249000	0.32839|0.32839	2.621000|2.621000	0.88768|0.88768	0.550000|0.550000	0.68814|0.68814	CCG|CGC		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
AQP7	364	mdanderson.org	37	9	33386144	33386144	+	Silent	SNP	G	G	A	rs76209395	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386144G>A	ENST00000537089.1	-	5	498	c.180C>T	c.(178-180)gtC>gtT	p.V60V	AQP7_ENST00000377425.4_Silent_p.V95V|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Silent_p.V152V			O14520	AQP7_HUMAN	aquaporin 7	152					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CAGCTGTAGCGACGGGACCGG	0.582																																						.											0													86.0	80.0	82.0					9																	33386144		2203	4300	6503	SO:0001819	synonymous_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.180C>T	9.37:g.33386144G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Silent	SNP	ENST00000537089.1	37																																																																																					0.582	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
AQP7	364	mdanderson.org	37	9	33386146	33386146	+	Missense_Mutation	SNP	C	C	A	rs76608797		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386146C>A	ENST00000537089.1	-	5	496	c.178G>T	c.(178-180)Gtc>Ttc	p.V60F	AQP7_ENST00000377425.4_Missense_Mutation_p.V95F|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.V152F			O14520	AQP7_HUMAN	aquaporin 7	152					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCTGTAGCGACGGGACCGGTC	0.582																																						.											0													86.0	80.0	82.0					9																	33386146		2203	4300	6503	SO:0001583	missense	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.178G>T	9.37:g.33386146C>A	ENSP00000441619:p.Val60Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	9.634	1.137210	0.21123	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	D;D;D;D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	3.98	-1.55	0.08558	Aquaporin-like (2);	1.211120	0.05677	N	0.589625	T	0.69233	0.3088	N	0.16166	0.38	0.09310	N	1	B;B;B;B	0.09022	0.002;0.0;0.0;0.0	B;B;B;B	0.13407	0.003;0.002;0.009;0.002	T	0.52223	-0.8604	10	0.17369	T	0.5	2.1417	4.6196	0.12444	0.0:0.225:0.4403:0.3347	.	151;152;95;152	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	F	60;151;20;152;95;60;151;152;88	ENSP00000441619:V60F;ENSP00000368821:V151F;ENSP00000412868:V20F;ENSP00000297988:V152F;ENSP00000396111:V95F;ENSP00000410138:V60F;ENSP00000368820:V151F;ENSP00000439534:V152F;ENSP00000368817:V88F	ENSP00000297988:V152F	V	-	1	0	AQP7	33376146	0.000000	0.05858	0.001000	0.08648	0.055000	0.15305	0.006000	0.13152	-0.272000	0.09259	-0.320000	0.08662	GTC		0.582	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
AQP7	364	mdanderson.org	37	9	33386152	33386152	+	Missense_Mutation	SNP	C	C	A	rs144445015	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386152C>A	ENST00000537089.1	-	5	490	c.172G>T	c.(172-174)Ggt>Tgt	p.G58C	AQP7_ENST00000377425.4_Missense_Mutation_p.G93C|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Missense_Mutation_p.G150C			O14520	AQP7_HUMAN	aquaporin 7	150					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GCGACGGGACCGGTCACCATC	0.577													-|||	2	0.000399361	0.0	0.0	5008	,	,		18166	0.002		0.0	False		,,,				2504	0.0					.											0													86.0	80.0	82.0					9																	33386152		2203	4300	6503	SO:0001583	missense	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.172G>T	9.37:g.33386152C>A	ENSP00000441619:p.Gly58Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	25.7	4.668622	0.88348	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	3.98	3.98	0.46160	Aquaporin-like (2);	0.096735	0.64402	D	0.000001	T	0.45498	0.1345	M	0.93678	3.445	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;0.998	T	0.56727	-0.7931	10	0.87932	D	0	-10.2624	11.903	0.52694	0.0:1.0:0.0:0.0	.	149;150;93;150	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	C	58;149;18;150;93;58;149;150;86	ENSP00000441619:G58C;ENSP00000368821:G149C;ENSP00000412868:G18C;ENSP00000297988:G150C;ENSP00000396111:G93C;ENSP00000410138:G58C;ENSP00000368820:G149C;ENSP00000439534:G150C;ENSP00000368817:G86C	ENSP00000297988:G150C	G	-	1	0	AQP7	33376152	1.000000	0.71417	0.138000	0.22173	0.379000	0.30106	6.942000	0.75928	2.507000	0.84556	0.645000	0.84053	GGT		0.577	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	
AQP7	364	mdanderson.org	37	9	33386193	33386193	+	Splice_Site	SNP	G	G	A	rs199840488		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33386193G>A	ENST00000537089.1	-	5	449	c.131C>T	c.(130-132)aCg>aTg	p.T44M	AQP7_ENST00000377425.4_Splice_Site_p.T79M|AQP7_ENST00000541274.1_Intron|AQP7_ENST00000539936.1_Splice_Site_p.T136M			O14520	AQP7_HUMAN	aquaporin 7	136					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAGAATGGCCGCTGCGGAGAC	0.567																																						.											0													71.0	70.0	70.0					9																	33386193		2203	4300	6503	SO:0001630	splice_region_variant	364			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000537089.1:c.131-1C>T	9.37:g.33386193G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000537089.1	37		.	.	.	.	.	.	.	.	.	.	-	17.06	3.291580	0.59976	.	.	ENSG00000165269	ENST00000537089;ENST00000379507;ENST00000447660;ENST00000297988;ENST00000377425;ENST00000439678;ENST00000379506;ENST00000539936;ENST00000379503	T;T;T;T;T;T;T;T;T	0.11821	2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74;2.74	3.98	-7.38	0.01407	Aquaporin-like (2);	2.946990	0.01163	N	0.006685	T	0.09158	0.0226	L	0.43923	1.385	0.09310	N	1	B;B;B;P	0.35780	0.174;0.16;0.174;0.52	B;B;B;B	0.26202	0.008;0.067;0.046;0.011	T	0.20174	-1.0283	10	0.87932	D	0	.	3.8747	0.09051	0.0816:0.336:0.1506:0.4317	.	135;136;79;136	Q5T5M0;B7Z4U2;Q6P5T0;O14520	.;.;.;AQP7_HUMAN	M	44;135;4;136;79;44;135;136;72	ENSP00000441619:T44M;ENSP00000368821:T135M;ENSP00000412868:T4M;ENSP00000297988:T136M;ENSP00000396111:T79M;ENSP00000410138:T44M;ENSP00000368820:T135M;ENSP00000439534:T136M;ENSP00000368817:T72M	ENSP00000297988:T136M	T	-	2	0	AQP7	33376193	0.000000	0.05858	0.002000	0.10522	0.883000	0.51084	-0.324000	0.07986	-1.638000	0.01529	0.645000	0.84053	ACG		0.567	AQP7-202	KNOWN	basic	protein_coding	protein_coding		NM_001170	Missense_Mutation
ARHGAP40	343578	mdanderson.org	37	20	37257642	37257642	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:37257642C>T	ENST00000373345.4	+	4	640	c.472C>T	c.(472-474)Cca>Tca	p.P158S		NM_001164431.1	NP_001157903.1	Q5TG30	RHG40_HUMAN	Rho GTPase activating protein 40	158					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)	1						TAAGTTTCCTCCAGGTAAGTG	0.517																																						.											0													50.0	50.0	50.0					20																	37257642		692	1591	2283	SO:0001583	missense	343578			AL035419		20q11.23	2011-06-29	2010-04-14	2010-04-14	ENSG00000124143	ENSG00000124143		"""Rho GTPase activating proteins"""	16226	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 95"""	C20orf95			Standard	NM_001164431		Approved	dJ1100H13.4	uc021wdn.1	Q5TG30	OTTHUMG00000032453	ENST00000373345.4:c.472C>T	20.37:g.37257642C>T	ENSP00000362442:p.Pro158Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000373345.4	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	0.049|0.049	-1.255049|-1.255049	0.01457|0.01457	.|.	.|.	ENSG00000124143|ENSG00000124143	ENST00000373345|ENST00000243967	T|.	0.21361|.	2.01|.	3.98|3.98	2.03|2.03	0.26663|0.26663	.|.	.|.	.|.	.|.	.|.	T|T	0.34571|0.34571	0.0902|0.0902	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.22208|0.22208	-1.0223|-1.0223	7|5	0.08179|.	T|.	0.78|.	.|.	6.3718|6.3718	0.21485|0.21485	0.0:0.7705:0.0:0.2295|0.0:0.7705:0.0:0.2295	.|.	.|.	.|.	.|.	S|F	158|98	ENSP00000362442:P158S|.	ENSP00000362442:P158S|.	P|S	+|+	1|2	0|0	ARHGAP40|ARHGAP40	36691056|36691056	0.008000|0.008000	0.16893|0.16893	0.008000|0.008000	0.14137|0.14137	0.006000|0.006000	0.05464|0.05464	0.893000|0.893000	0.28336|0.28336	0.469000|0.469000	0.27268|0.27268	-0.259000|-0.259000	0.10710|0.10710	CCA|TCC		0.517	ARHGAP40-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_293123	
ATN1	1822	mdanderson.org	37	12	7045912	7045912	+	Silent	SNP	G	G	A	rs144280633	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:7045912G>A	ENST00000356654.4	+	5	1719	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	ATN1_ENST00000396684.2_Silent_p.Q494Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	494	Poly-Gln.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						agcagcagcagcagcagcagc	0.642																																						.											0													39.0	49.0	46.0					12																	7045912		2183	4256	6439	SO:0001819	synonymous_variant	1822			U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.1482G>A	12.37:g.7045912G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q99495|Q99621|Q9UEK7	Silent	SNP	ENST00000356654.4	37	CCDS31734.1																																																																																				0.642	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
ATP8B2	57198	mdanderson.org	37	1	154315311	154315311	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:154315311G>A	ENST00000368489.3	+	15	1426	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	462					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCCTCTGGCTGACAAGAAGTT	0.542																																						.											0													92.0	89.0	90.0					1																	154315311		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1426G>A	1.37:g.154315311G>A	ENSP00000357475:p.Asp476Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.733878	0.89482	.	.	ENSG00000143515	ENST00000368489	T	0.61859	0.07	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.67107	0.2858	M	0.62266	1.93	0.80722	D	1	D	0.59767	0.986	D	0.63283	0.913	T	0.65780	-0.6085	10	0.49607	T	0.09	.	18.3169	0.90224	0.0:0.0:1.0:0.0	.	476	P98198-3	.	N	476	ENSP00000357475:D476N	ENSP00000357475:D476N	D	+	1	0	ATP8B2	152581935	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.697000	0.84279	2.808000	0.96608	0.655000	0.94253	GAC		0.542	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452	
ATXN1	6310	mdanderson.org	37	6	16327918	16327918	+	Missense_Mutation	SNP	C	C	A	rs28555263	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:16327918C>A	ENST00000244769.4	-	8	1560	c.624G>T	c.(622-624)caG>caT	p.Q208H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q208H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	208	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gatgctgatgctgctgctgct	0.662													C|||	649	0.129593	0.1437	0.1153	5008	,	,		12912	0.2044		0.0318	False		,,,				2504	0.1442					.											0													5.0	8.0	7.0					6																	16327918		1579	3505	5084	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.624G>T	6.37:g.16327918C>A	ENSP00000244769:p.Gln208His	Somatic		WXS	Illumina HiSeq	Phase_I	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	C	5.901	0.350402	0.11182	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56103	0.48;0.48	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.09158	0.0226	N	0.08118	0	0.09310	N	1	P	0.39520	0.676	B	0.36030	0.216	T	0.18493	-1.0335	8	0.13108	T	0.6	.	.	.	.	rs28555263	208	P54253	ATX1_HUMAN	H	208	ENSP00000244769:Q208H;ENSP00000416360:Q208H	ENSP00000244769:Q208H	Q	-	3	2	ATXN1	16435897	0.129000	0.22400	0.018000	0.16275	0.062000	0.15995	1.183000	0.32041	0.132000	0.18615	0.134000	0.15878	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332	
BAZ1B	9031	mdanderson.org	37	7	72891458	72891458	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:72891458T>C	ENST00000339594.4	-	7	2671	c.2333A>G	c.(2332-2334)aAg>aGg	p.K778R	BAZ1B_ENST00000404251.1_Missense_Mutation_p.K778R	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	778					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGCCGTTCCTTCCACAACTC	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													80.0	72.0	75.0					7																	72891458		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2333A>G	7.37:g.72891458T>C	ENSP00000342434:p.Lys778Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	T	19.75	3.885335	0.72410	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.64085	-0.08;-0.08	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73179	0.3554	L	0.52759	1.655	0.53688	D	0.999978	D	0.69078	0.997	D	0.75020	0.985	T	0.70490	-0.4857	10	0.30854	T	0.27	-32.4356	15.3014	0.73955	0.0:0.0:0.0:1.0	.	778	Q9UIG0	BAZ1B_HUMAN	R	778	ENSP00000342434:K778R;ENSP00000385442:K778R	ENSP00000342434:K778R	K	-	2	0	BAZ1B	72529394	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.866000	0.69590	2.219000	0.72066	0.459000	0.35465	AAG		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
BAZ1B	9031	mdanderson.org	37	7	72892254	72892254	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:72892254G>A	ENST00000339594.4	-	7	1875	c.1537C>T	c.(1537-1539)Cgt>Tgt	p.R513C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R513C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	513	Lys-rich.				cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCTGGGAGACGAGCTCTATCT	0.438																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)	.											0													101.0	104.0	103.0					7																	72892254		2203	4300	6503	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.1537C>T	7.37:g.72892254G>A	ENSP00000342434:p.Arg513Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	G	18.28	3.589356	0.66105	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.58358	0.34;0.34	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.61961	0.2389	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.63849	-0.6544	10	0.66056	D	0.02	-16.7136	13.388	0.60807	0.0:0.0:0.8428:0.1572	.	513	Q9UIG0	BAZ1B_HUMAN	C	513	ENSP00000342434:R513C;ENSP00000385442:R513C	ENSP00000342434:R513C	R	-	1	0	BAZ1B	72530190	1.000000	0.71417	0.955000	0.39395	0.999000	0.98932	5.906000	0.69900	2.593000	0.87608	0.655000	0.94253	CGT		0.438	BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
BBS4	585	mdanderson.org	37	15	73009145	73009145	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:73009145C>T	ENST00000268057.4	+	6	400	c.359C>T	c.(358-360)gCc>gTc	p.A120V	BBS4_ENST00000539603.1_Missense_Mutation_p.A108V|BBS4_ENST00000542334.1_5'UTR|BBS4_ENST00000564239.1_3'UTR|BBS4_ENST00000395205.2_Missense_Mutation_p.A128V	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	120	Interaction with PCM1.				adult behavior (GO:0030534)|brain morphogenesis (GO:0048854)|centrosome organization (GO:0051297)|cerebral cortex development (GO:0021987)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|dendrite development (GO:0016358)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|hippocampus development (GO:0021766)|intracellular transport (GO:0046907)|maintenance of protein location in nucleus (GO:0051457)|melanosome transport (GO:0032402)|metabolic process (GO:0008152)|microtubule anchoring at centrosome (GO:0034454)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of systemic arterial blood pressure (GO:0003085)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of cilium assembly (GO:0045724)|positive regulation of multicellular organism growth (GO:0040018)|protein localization to centrosome (GO:0071539)|protein localization to organelle (GO:0033365)|protein transport (GO:0015031)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|regulation of cytokinesis (GO:0032465)|regulation of lipid metabolic process (GO:0019216)|retina homeostasis (GO:0001895)|retinal rod cell development (GO:0046548)|sensory perception of smell (GO:0007608)|sensory processing (GO:0050893)|spermatid development (GO:0007286)|striatum development (GO:0021756)|visual perception (GO:0007601)	BBSome (GO:0034464)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|ciliary membrane (GO:0060170)|cilium (GO:0005929)|motile cilium (GO:0031514)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|dynactin binding (GO:0034452)|microtubule motor activity (GO:0003777)|RNA polymerase II repressing transcription factor binding (GO:0001103)			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						CATAAAGCTGCCATTGAAGTA	0.313									Bardet-Biedl syndrome																													.											0													30.0	32.0	31.0					15																	73009145		2195	4295	6490	SO:0001583	missense	585	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AF090947	CCDS10246.1, CCDS58377.1	15q22.3-q23	2013-01-10			ENSG00000140463	ENSG00000140463		"""Tetratricopeptide (TTC) repeat domain containing"""	969	protein-coding gene	gene with protein product		600374				7711739, 11381270	Standard	NM_033028		Approved		uc002avb.3	Q96RK4	OTTHUMG00000133510	ENST00000268057.4:c.359C>T	15.37:g.73009145C>T	ENSP00000268057:p.Ala120Val	Somatic		WXS	Illumina HiSeq	Phase_I	B4E178|Q53DZ5|Q8NHU9|Q96H45	Missense_Mutation	SNP	ENST00000268057.4	37	CCDS10246.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137580	0.94517	.	.	ENSG00000140463	ENST00000268057;ENST00000539603;ENST00000395205	D;D;D	0.89343	-2.5;-2.5;-2.5	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.94225	0.8146	M	0.74467	2.265	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.995;0.993;0.998	D	0.94821	0.7987	10	0.87932	D	0	-9.8994	17.4905	0.87702	0.0:1.0:0.0:0.0	.	108;128;120	F5H7I8;Q96RK4-2;Q96RK4	.;.;BBS4_HUMAN	V	120;108;128	ENSP00000268057:A120V;ENSP00000442492:A108V;ENSP00000378631:A128V	ENSP00000268057:A120V	A	+	2	0	BBS4	70796198	1.000000	0.71417	0.968000	0.41197	0.961000	0.63080	7.040000	0.76551	2.420000	0.82092	0.591000	0.81541	GCC		0.313	BBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257473.2	NM_033028	
BDP1	55814	mdanderson.org	37	5	70800538	70800538	+	Missense_Mutation	SNP	G	G	A	rs3761967	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:70800538G>A	ENST00000358731.4	+	16	2595	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	778			V -> M (in dbSNP:rs3761967).		gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTTCAAAATGTGCAGCCAGA	0.328													G|||	2167	0.432708	0.385	0.3444	5008	,	,		16468	0.379		0.4911	False		,,,				2504	0.5552					.											0								G	MET/VAL	1365,2307		257,851,728	93.0	85.0	87.0		2332	-3.4	0.0	5	dbSNP_107	87	3941,4237		979,1983,1127	yes	missense	BDP1	NM_018429.2	21	1236,2834,1855	AA,AG,GG		48.1903,37.1732,44.7764	benign	778/2625	70800538	5306,6544	1836	4089	5925	SO:0001583	missense	55814			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.2332G>A	5.37:g.70800538G>A	ENSP00000351575:p.Val778Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	ENST00000358731.4	37	CCDS43328.1	911	0.41712454212454214	185	0.37601626016260165	126	0.34806629834254144	223	0.38986013986013984	377	0.4973614775725594	G	1.874	-0.459559	0.04508	0.371732	0.481903	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000451951;ENST00000444711	T	0.13538	2.58	4.48	-3.44	0.04796	.	2.140630	0.01851	N	0.035904	T	0.00012	0.0000	L	0.44542	1.39	0.58432	P	1.999999999946489E-6	B;P;B	0.39022	0.426;0.655;0.065	B;B;B	0.36719	0.14;0.231;0.052	T	0.41945	-0.9480	9	0.40728	T	0.16	.	1.3101	0.02096	0.4538:0.1427:0.2419:0.1615	rs3761967;rs56560745;rs59612064;rs3761967	778;778;778	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	M	778;778;358;778	ENSP00000351575:V778M	ENSP00000351575:V778M	V	+	1	0	BDP1	70836294	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.015000	0.12634	-0.485000	0.06754	-0.802000	0.03209	GTG		0.328	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429	
C19orf44	84167	mdanderson.org	37	19	16611835	16611835	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:16611835T>C	ENST00000221671.3	+	2	388	c.232T>C	c.(232-234)Tca>Cca	p.S78P	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.S78P	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	78										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						CAGGCTTGCCTCATGTAGACC	0.532																																						.											0													109.0	122.0	117.0					19																	16611835		2203	4300	6503	SO:0001583	missense	84167			AK025395	CCDS12345.1, CCDS74306.1	19p13.11	2011-11-24			ENSG00000105072	ENSG00000105072			26141	protein-coding gene	gene with protein product						12477932	Standard	NM_032207		Approved	FLJ21742	uc002neh.1	Q9H6X5		ENST00000221671.3:c.232T>C	19.37:g.16611835T>C	ENSP00000221671:p.Ser78Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N6Y7	Missense_Mutation	SNP	ENST00000221671.3	37	CCDS12345.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048238	0.36181	.	.	ENSG00000105072	ENST00000221671	.	.	.	3.84	1.66	0.24008	.	0.547731	0.16747	N	0.201199	T	0.53334	0.1790	M	0.65975	2.015	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	T	0.40757	-0.9546	9	0.49607	T	0.09	-0.1297	3.1182	0.06382	0.3702:0.1088:0.0:0.521	.	78;78	Q9H6X5;Q9H6X5-2	CS044_HUMAN;.	P	78	.	ENSP00000221671:S78P	S	+	1	0	C19orf44	16472835	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.200000	0.17257	-0.008000	0.14320	-0.250000	0.11733	TCA		0.532	C19orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000461218.1	NM_032207	
C4orf27	54969	mdanderson.org	37	4	170678993	170678993	+	Silent	SNP	T	T	C	rs11540095	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:170678993T>C	ENST00000393381.2	-	1	111	c.36A>G	c.(34-36)ggA>ggG	p.G12G		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	12						nucleus (GO:0005634)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GCGGCCCCTCTCCGCCGGGCC	0.692													C|||	3893	0.777356	0.6899	0.7954	5008	,	,		12693	0.881		0.7843	False		,,,				2504	0.7689					.											0								C		2972,1212		1062,848,182	5.0	6.0	6.0		36	1.7	0.7	4	dbSNP_120	6	6667,1561		2735,1197,182	no	coding-synonymous	C4orf27	NM_017867.2		3797,2045,364	CC,CT,TT		18.9718,28.9675,22.3413		12/347	170678993	9639,2773	2092	4114	6206	SO:0001819	synonymous_variant	54969			BC010367	CCDS3813.1	4q33	2011-01-25			ENSG00000056050	ENSG00000056050			26051	protein-coding gene	gene with protein product						11230166	Standard	NM_017867		Approved	FLJ20534	uc003isl.4	Q9NWY4	OTTHUMG00000160960	ENST00000393381.2:c.36A>G	4.37:g.170678993T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000393381.2	37	CCDS3813.1																																																																																				0.692	C4orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363140.1	NM_017867	
CASC5	57082	mdanderson.org	37	15	40913801	40913801	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:40913801A>G	ENST00000346991.5	+	11	1807	c.1417A>G	c.(1417-1419)Aga>Gga	p.R473G	CASC5_ENST00000399668.2_Missense_Mutation_p.R447G|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	473	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CTCAAATATGAGAGAGGAGAA	0.328																																						.											0													67.0	65.0	65.0					15																	40913801		1822	4080	5902	SO:0001583	missense	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1417A>G	15.37:g.40913801A>G	ENSP00000335463:p.Arg473Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	A	11.97	1.796563	0.31777	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.05139	3.49;3.49	5.94	2.3	0.28687	.	1.023320	0.07757	N	0.949536	T	0.06096	0.0158	L	0.35723	1.085	0.09310	N	1	B;B;B	0.15473	0.004;0.004;0.013	B;B;B	0.09377	0.004;0.004;0.004	T	0.41034	-0.9531	10	0.40728	T	0.16	.	5.4785	0.16710	0.5262:0.2673:0.2064:0.0	.	447;473;447	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	G	473;447;447	ENSP00000335463:R473G;ENSP00000382576:R447G	ENSP00000260369:R447G	R	+	1	2	CASC5	38701093	0.001000	0.12720	0.969000	0.41365	0.966000	0.64601	0.013000	0.13310	0.490000	0.27771	0.455000	0.32223	AGA		0.328	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508	
CATSPER2	117155	mdanderson.org	37	15	43928380	43928380	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:43928380A>G	ENST00000321596.5	-	8	1079	c.880T>C	c.(880-882)Ttc>Ctc	p.F294L	CATSPER2_ENST00000381761.1_Missense_Mutation_p.F300L|CATSPER2_ENST00000396879.1_Missense_Mutation_p.F294L|STRC_ENST00000541030.1_Intron|RNU6-610P_ENST00000384264.1_RNA|CATSPER2_ENST00000355438.2_Missense_Mutation_p.F294L|CATSPER2_ENST00000354127.4_Missense_Mutation_p.F294L			Q96P56	CTSR2_HUMAN	cation channel, sperm associated 2	294					calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		TCCAAGGTGAAGAGAATGAAC	0.443																																						.											0													39.0	41.0	40.0					15																	43928380		2199	4292	6491	SO:0001583	missense	117155			AF411817	CCDS10099.1, CCDS32216.1, CCDS73714.1	15q15.3	2011-07-05			ENSG00000166762	ENSG00000166762		"""Voltage-gated ion channels / Cation channels, sperm associated"""	18810	protein-coding gene	gene with protein product		607249				11675491, 16382101	Standard	NM_172095		Approved		uc001zsh.3	Q96P56	OTTHUMG00000059902	ENST00000321596.5:c.880T>C	15.37:g.43928380A>G	ENSP00000321463:p.Phe294Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHT9|Q96P54|Q96P55	Missense_Mutation	SNP	ENST00000321596.5	37	CCDS10099.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089780	0.76756	.	.	ENSG00000166762	ENST00000396879;ENST00000299989;ENST00000381761;ENST00000321596;ENST00000354127;ENST00000355438	D;D;D;D;D	0.97994	-4.65;-4.65;-4.65;-4.65;-4.65	4.81	4.81	0.61882	Ion transport (1);	0.192500	0.36519	N	0.002541	D	0.96494	0.8856	N	0.25286	0.73	0.41527	D	0.98843	D;D	0.54397	0.957;0.966	P;P	0.62560	0.845;0.904	D	0.95517	0.8591	10	0.36615	T	0.2	.	10.6643	0.45721	1.0:0.0:0.0:0.0	.	300;294	F8W9H2;Q96P56	.;CTSR2_HUMAN	L	294;294;300;294;294;294	ENSP00000380088:F294L;ENSP00000371180:F300L;ENSP00000321463:F294L;ENSP00000339137:F294L;ENSP00000347613:F294L	ENSP00000299989:F294L	F	-	1	0	CATSPER2	41715672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.345000	0.65987	2.013000	0.59113	0.533000	0.62120	TTC		0.443	CATSPER2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133151.2	NM_054020	
CCDC132	55610	mdanderson.org	37	7	92905518	92905518	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:92905518T>C	ENST00000305866.5	+	12	971	c.843T>C	c.(841-843)atT>atC	p.I281I	CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000251739.5_Silent_p.I281I|CCDC132_ENST00000544910.1_Silent_p.I251I|CCDC132_ENST00000541136.1_Silent_p.I92I|CCDC132_ENST00000317751.6_Silent_p.I12I	NM_017667.3	NP_060137.2	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	281						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CCCAAGCCATTCACAACACCG	0.353																																						.											0													210.0	186.0	194.0					7																	92905518		2203	4300	6503	SO:0001819	synonymous_variant	55610			AL833112, AK055965, AL832393	CCDS5630.1, CCDS43617.1, CCDS59065.1	7q21.3	2007-07-23			ENSG00000004766	ENSG00000004766			25956	protein-coding gene	gene with protein product						11347906	Standard	NM_024553		Approved	KIAA1861, FLJ20097, DKFZp313I2429	uc003umo.4	Q96JG6	OTTHUMG00000131733	ENST00000305866.5:c.843T>C	7.37:g.92905518T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B3KX22|D1MQ00|F5H5U7|Q75N07|Q8WVK3|Q9H5C6	Silent	SNP	ENST00000305866.5	37	CCDS43617.1	.	.	.	.	.	.	.	.	.	.	T	10.68	1.418400	0.25552	.	.	ENSG00000004766	ENST00000458707	.	.	.	5.3	1.2	0.21068	.	.	.	.	.	T	0.55577	0.1929	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48139	-0.9061	4	.	.	.	-23.125	8.3177	0.32111	0.0:0.4108:0.0:0.5892	.	.	.	.	S	68	.	.	F	+	2	0	CCDC132	92743454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.819000	0.39022	0.398000	0.25338	-0.297000	0.09499	TTC		0.353	CCDC132-019	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341687.1	NM_017667	
CCDC144NL	339184	mdanderson.org	37	17	20769996	20769996	+	Nonsense_Mutation	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:20769996C>A	ENST00000327925.5	-	3	555	c.436G>T	c.(436-438)Gga>Tga	p.G146*	RP11-344E13.3_ENST00000417232.2_RNA|CCDC144NL_ENST00000539484.1_5'UTR|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	146										large_intestine(3)|lung(3)|skin(1)	7						ccttctcctccttcagcctgg	0.572																																						.											0													43.0	29.0	34.0					17																	20769996		2112	4035	6147	SO:0001587	stop_gained	339184				CCDS32591.1	17p11.2	2009-01-15			ENSG00000205212	ENSG00000205212			33735	protein-coding gene	gene with protein product							Standard	NM_001004306		Approved	MGC87631	uc002gyf.3	Q6NUI1	OTTHUMG00000132271	ENST00000327925.5:c.436G>T	17.37:g.20769996C>A	ENSP00000328054:p.Gly146*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000327925.5	37	CCDS32591.1	.	.	.	.	.	.	.	.	.	.	c	9.837	1.189859	0.21954	.	.	ENSG00000205212	ENST00000327925	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	.	.	.	.	.	.	.	X	146	.	ENSP00000328054:G146X	G	-	1	0	CCDC144NL	20710588	0.077000	0.21312	0.046000	0.18839	0.046000	0.14306	0.076000	0.14712	0.088000	0.17205	0.089000	0.15464	GGA		0.572	CCDC144NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255361.2	NM_001004306	
CDC27	996	mdanderson.org	37	17	45219311	45219311	+	Missense_Mutation	SNP	T	T	C	rs140737545		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:45219311T>C	ENST00000066544.3	-	12	1552	c.1459A>G	c.(1459-1461)Att>Gtt	p.I487V	CDC27_ENST00000446365.2_Missense_Mutation_p.I426V|CDC27_ENST00000527547.1_Missense_Mutation_p.I486V|CDC27_ENST00000531206.1_Missense_Mutation_p.I493V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	487					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGGCTCAAAATATTTATAGCT	0.383																																						.											0													112.0	118.0	116.0					17																	45219311		2203	4299	6502	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1459A>G	17.37:g.45219311T>C	ENSP00000066544:p.Ile487Val	Somatic		WXS	Illumina HiSeq	Phase_I	G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	T	4.731	0.135890	0.09032	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.92	3.6	0.41247	.	0.089833	0.85682	D	0.000000	T	0.53384	0.1793	L	0.31476	0.935	0.49798	D	0.999821	B;B;B;B	0.23316	0.05;0.083;0.083;0.024	B;B;B;B	0.17098	0.008;0.017;0.017;0.005	T	0.44590	-0.9318	10	0.02654	T	1	-23.2923	6.9274	0.24422	0.0:0.0792:0.1504:0.7704	.	426;486;493;487	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	V	487;493;426;486	ENSP00000066544:I487V;ENSP00000434614:I493V;ENSP00000392802:I426V;ENSP00000437339:I486V	ENSP00000066544:I487V	I	-	1	0	CDC27	42574310	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	4.907000	0.63300	1.072000	0.40860	0.528000	0.53228	ATT		0.383	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2		
CELF3	11189	mdanderson.org	37	1	151678746	151678746	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:151678746C>T	ENST00000290583.4	-	10	1873	c.1080G>A	c.(1078-1080)caG>caA	p.Q360Q	CELF3_ENST00000290585.4_Silent_p.Q310Q|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Silent_p.Q155Q	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	360	Gln-rich.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						gctgctgctgctgttgAGGTG	0.652																																						.											0													19.0	21.0	20.0					1																	151678746		2199	4294	6493	SO:0001819	synonymous_variant	11189			U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1080G>A	1.37:g.151678746C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Silent	SNP	ENST00000290583.4	37	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	8.446	0.851874	0.17034	.	.	ENSG00000159409	ENST00000420342	.	.	.	4.18	3.18	0.36537	.	.	.	.	.	T	0.45994	0.1370	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41910	-0.9482	4	.	.	.	-1.649	8.7523	0.34622	0.0:0.876:0.0:0.124	.	.	.	.	N	361	.	.	S	-	2	0	CELF3	149945370	.	.	1.000000	0.80357	0.943000	0.58893	.	.	2.183000	0.69458	0.655000	0.94253	AGC		0.652	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185	
CHDH	55349	mdanderson.org	37	3	53856589	53856589	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:53856589C>T	ENST00000315251.6	-	4	1221	c.784G>A	c.(784-786)Gtg>Atg	p.V262M		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	262					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	ACCCTGCTCACAAGCGTCTCG	0.632																																						.											0													113.0	91.0	99.0					3																	53856589		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.784G>A	3.37:g.53856589C>T	ENSP00000319851:p.Val262Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q9NY17	Missense_Mutation	SNP	ENST00000315251.6	37	CCDS2873.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.629633	0.67015	.	.	ENSG00000016391	ENST00000315251	T	0.78126	-1.15	5.65	5.65	0.86999	Glucose-methanol-choline oxidoreductase, N-terminal (1);	0.271361	0.37348	N	0.002126	D	0.90967	0.7160	M	0.93978	3.48	0.43852	D	0.996441	D	0.53619	0.961	P	0.62813	0.907	D	0.92356	0.5893	10	0.87932	D	0	-27.6343	19.5069	0.95121	0.0:1.0:0.0:0.0	.	262	Q8NE62	CHDH_HUMAN	M	262	ENSP00000319851:V262M	ENSP00000319851:V262M	V	-	1	0	CHDH	53831629	0.979000	0.34478	0.126000	0.21872	0.538000	0.34931	2.244000	0.43124	2.941000	0.99782	0.655000	0.94253	GTG		0.632	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350567.2	NM_018397	
CHSY1	22856	mdanderson.org	37	15	101717680	101717680	+	Silent	SNP	G	G	T	rs8024370	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:101717680G>T	ENST00000254190.3	-	3	2797	c.2322C>A	c.(2320-2322)acC>acA	p.T774T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	774					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCAGCTGCTGGGTGGACCCAT	0.478													T|||	3805	0.759784	0.8994	0.6412	5008	,	,		18386	0.8958		0.5557	False		,,,				2504	0.7249					.											0								T		3803,603	262.2+/-264.8	1657,489,57	87.0	81.0	83.0		2322	-9.2	0.7	15	dbSNP_116	83	4843,3757	534.2+/-382.6	1356,2131,813	no	coding-synonymous	CHSY1	NM_014918.4		3013,2620,870	TT,TG,GG		43.686,13.6859,33.523		774/803	101717680	8646,4360	2203	4300	6503	SO:0001819	synonymous_variant	22856			AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.2322C>A	15.37:g.101717680G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX38|Q7LFU5|Q9Y2J5	Silent	SNP	ENST00000254190.3	37	CCDS10390.1																																																																																				0.478	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
CNOT7	29883	mdanderson.org	37	8	17088229	17088229	+	Nonstop_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:17088229T>C	ENST00000361272.4	-	7	1156	c.858A>G	c.(856-858)tgA>tgG	p.*286W		NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	0					carbohydrate metabolic process (GO:0005975)|cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|exoribonuclease activity (GO:0004532)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTATTTCATGTCATGACTGCT	0.398																																						.											0													109.0	102.0	104.0					8																	17088229		2203	4300	6503	SO:0001578	stop_lost	29883			L46722	CCDS6000.2, CCDS55202.1	8p22-p21.3	2008-08-07			ENSG00000198791	ENSG00000198791			14101	protein-coding gene	gene with protein product	"""BTG1 binding factor 1"""	604913		CAF1		10637334, 1538749, 17264152	Standard	XM_005273481		Approved		uc003wxg.1	Q9UIV1	OTTHUMG00000096971	ENST00000361272.4:c.858A>G	8.37:g.17088229T>C	ENSP00000355279:p.*286Cysext*57	Somatic		WXS	Illumina HiSeq	Phase_I	A8MZM5|B3KMP1|B3KN35|D3DSP6|G3V108|Q7Z530	Missense_Mutation	SNP	ENST00000361272.4	37	CCDS6000.2	.	.	.	.	.	.	.	.	.	.	T	14.89	2.670954	0.47781	.	.	ENSG00000198791	ENST00000361272	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4096	0.74908	0.0:0.0:0.0:1.0	.	.	.	.	W	286	.	.	X	-	3	0	CNOT7	17132600	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.694000	0.84235	2.180000	0.69256	0.533000	0.62120	TGA		0.398	CNOT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214038.1	NM_013354	
CNR2	1269	mdanderson.org	37	1	24201162	24201162	+	Missense_Mutation	SNP	G	G	A	rs2229579	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:24201162G>A	ENST00000374472.4	-	2	1107	c.946C>T	c.(946-948)Cac>Tac	p.H316Y	CNR2_ENST00000536471.1_Missense_Mutation_p.H316Y	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	316			H -> Y (in dbSNP:rs2229579). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:18286196, ECO:0000269|Ref.5}.		G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	TTCTTCCAGTGAGCCAGGCAG	0.552													G|||	538	0.107428	0.0045	0.1081	5008	,	,		21093	0.2143		0.0885	False		,,,				2504	0.1554					.											0								G	TYR/HIS	105,4301	80.9+/-119.3	2,101,2100	93.0	95.0	94.0		946	0.7	0.0	1	dbSNP_98	94	859,7741	197.3+/-242.0	34,791,3475	yes	missense	CNR2	NM_001841.2	83	36,892,5575	AA,AG,GG		9.9884,2.3831,7.412	benign	316/361	24201162	964,12042	2203	4300	6503	SO:0001583	missense	1269			X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.946C>T	1.37:g.24201162G>A	ENSP00000363596:p.His316Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	CCDS245.1	219	0.10027472527472528	1	0.0020325203252032522	30	0.08287292817679558	119	0.20804195804195805	69	0.09102902374670185	G	0.505	-0.868974	0.02570	0.023831	0.099884	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.36878	1.23;1.23	5.21	0.728	0.18260	.	1.823760	0.02519	N	0.092394	T	0.00012	0.0000	N	0.14661	0.345	0.80722	P	0.0	B	0.30870	0.298	B	0.24974	0.057	T	0.11397	-1.0589	9	0.12430	T	0.62	.	4.3273	0.11046	0.0722:0.2569:0.4207:0.2501	rs2229579;rs3820021;rs52824290;rs2229579	316	P34972	CNR2_HUMAN	Y	316	ENSP00000363596:H316Y;ENSP00000442830:H316Y	ENSP00000363596:H316Y	H	-	1	0	CNR2	24073749	0.000000	0.05858	0.006000	0.13384	0.092000	0.18411	0.023000	0.13533	0.151000	0.19162	0.563000	0.77884	CAC		0.552	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841	
CNTNAP3	79937	mdanderson.org	37	9	39140621	39140621	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:39140621A>G	ENST00000297668.6	-	12	1844	c.1771T>C	c.(1771-1773)Tct>Cct	p.S591P	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.S503P|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.S591P|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.S498P|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.S591P	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	591	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GCTTCACAAGACTGCTCGTAG	0.463																																						.											0													28.0	32.0	31.0					9																	39140621		2202	4299	6501	SO:0001583	missense	79937			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1771T>C	9.37:g.39140621A>G	ENSP00000297668:p.Ser591Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B1AMA0|Q9C0E9	Missense_Mutation	SNP	ENST00000297668.6	37	CCDS6616.1	.	.	.	.	.	.	.	.	.	.	A	12.90	2.076280	0.36662	.	.	ENSG00000106714	ENST00000297668;ENST00000377656;ENST00000358144;ENST00000323947;ENST00000377659	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	2.85	2.85	0.33270	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (5);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	T	0.65037	0.2653	M	0.92604	3.325	0.35856	D	0.827122	D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999	D;D;D;D;D	0.91635	0.98;0.997;0.991;0.999;0.995	T	0.76429	-0.2962	9	0.66056	D	0.02	.	10.1498	0.42786	1.0:0.0:0.0:0.0	.	498;591;591;591;591	E2QRH2;Q96NU0;Q9BZ76-2;A6NC89;Q9BZ76	.;CNT3B_HUMAN;.;.;CNTP3_HUMAN	P	591;591;503;498;591	ENSP00000297668:S591P;ENSP00000366884:S591P;ENSP00000350863:S503P;ENSP00000320728:S498P;ENSP00000366887:S591P	ENSP00000297668:S591P	S	-	1	0	CNTNAP3	39130621	1.000000	0.71417	0.576000	0.28549	0.024000	0.10985	7.878000	0.87231	1.304000	0.44892	0.361000	0.22055	TCT		0.463	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052511.1	NM_033655	
CPE	1363	mdanderson.org	37	4	166385729	166385729	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:166385729A>G	ENST00000402744.4	+	2	775	c.495A>G	c.(493-495)gcA>gcG	p.A165A		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	165					cardiac left ventricle morphogenesis (GO:0003214)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|insulin processing (GO:0030070)|metabolic process (GO:0008152)|neuropeptide signaling pathway (GO:0007218)|protein localization to membrane (GO:0072657)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)	carboxypeptidase activity (GO:0004180)|cell adhesion molecule binding (GO:0050839)|metallocarboxypeptidase activity (GO:0004181)|neurexin family protein binding (GO:0042043)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTGAGAAGGCAGCGTCTCAGG	0.473											OREG0016390	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										.											0													111.0	96.0	101.0					4																	166385729		2203	4300	6503	SO:0001819	synonymous_variant	1363			X51405	CCDS3810.1	4q32.3	2012-02-10			ENSG00000109472	ENSG00000109472	3.4.17.10		2303	protein-coding gene	gene with protein product	"""carboxypeptidase H"", ""enkephalin convertase"", ""insulin granule-associated carboxypeptidase"", ""cobalt-stimulated chromaffin granule carboxypeptidase"""	114855				2334405	Standard	NM_001873		Approved		uc003irg.4	P16870	OTTHUMG00000150252	ENST00000402744.4:c.495A>G	4.37:g.166385729A>G		Somatic	1854	WXS	Illumina HiSeq	Phase_I	A8K4N1|B3KR42|B4DFN4|D3DP33|Q9UIU9	Silent	SNP	ENST00000402744.4	37	CCDS3810.1																																																																																				0.473	CPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317094.2	NM_001873	
CXorf22	170063	mdanderson.org	37	X	35974129	35974129	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:35974129T>C	ENST00000297866.5	+	8	1292	c.1226T>C	c.(1225-1227)gTt>gCt	p.V409A		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	409										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GGACTTCCTGTTTTACTACAG	0.368																																						.											0													95.0	90.0	91.0					X																	35974129		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1226T>C	X.37:g.35974129T>C	ENSP00000297866:p.Val409Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	ENST00000297866.5	37	CCDS14237.2	.	.	.	.	.	.	.	.	.	.	T	14.21	2.466133	0.43839	.	.	ENSG00000165164	ENST00000297866	T	0.63417	-0.04	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.74831	0.3768	M	0.75264	2.295	0.35691	D	0.814869	D	0.76494	0.999	D	0.67382	0.951	T	0.77590	-0.2531	10	0.16420	T	0.52	-44.5563	13.5093	0.61502	0.0:0.0:0.0:1.0	.	409	Q6ZTR5	CX022_HUMAN	A	409	ENSP00000297866:V409A	ENSP00000297866:V409A	V	+	2	0	CXorf22	35884050	1.000000	0.71417	0.845000	0.33349	0.008000	0.06430	5.632000	0.67819	1.854000	0.53819	0.486000	0.48141	GTT		0.368	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056216.2	NM_152632	
CYP11B1	1584	mdanderson.org	37	8	143958291	143958291	+	Silent	SNP	C	C	T	rs61751154		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:143958291C>T	ENST00000292427.4	-	4	638	c.606G>A	c.(604-606)ttG>ttA	p.L202L	CYP11B1_ENST00000377675.3_Silent_p.L273L|CYP11B1_ENST00000517471.1_Silent_p.L202L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	202					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	CAAAAAGAGCCAAGTTGCTGG	0.642									Familial Hyperaldosteronism type I				.|||	1	0.000199681	0.0008	0.0	5008	,	,		19690	0.0		0.0	False		,,,				2504	0.0					.											0													37.0	38.0	38.0					8																	143958291		2203	4300	6503	SO:0001819	synonymous_variant	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.606G>A	8.37:g.143958291C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Silent	SNP	ENST00000292427.4	37	CCDS6392.1																																																																																				0.642	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379475.2		
CYP20A1	57404	mdanderson.org	37	2	204154552	204154552	+	Missense_Mutation	SNP	C	C	T	rs1048013	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:204154552C>T	ENST00000356079.4	+	10	1159	c.1036C>T	c.(1036-1038)Ctt>Ttt	p.L346F	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.L354F	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	346			L -> F (in dbSNP:rs1048013). {ECO:0000269|PubMed:15489334, ECO:0000269|Ref.1}.			integral component of membrane (GO:0016021)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						TTCTGCCCAGCTTCAAGATAT	0.318													C|||	2003	0.39996	0.149	0.4438	5008	,	,		13211	0.3194		0.5606	False		,,,				2504	0.6258					.											0								C	PHE/LEU	979,3427	364.1+/-316.8	108,763,1332	61.0	58.0	59.0		1036	5.6	1.0	2	dbSNP_86	59	4837,3763	614.1+/-396.2	1365,2107,828	yes	missense	CYP20A1	NM_177538.2	22	1473,2870,2160	TT,TC,CC		43.7558,22.2197,44.7178	benign	346/463	204154552	5816,7190	2203	4300	6503	SO:0001583	missense	57404			AK021770	CCDS2357.1	2q33	2008-02-05			ENSG00000119004	ENSG00000119004		"""Cytochrome P450s"""	20576	protein-coding gene	gene with protein product							Standard	NM_177538		Approved	CYP-M	uc002uzv.4	Q6UW02	OTTHUMG00000132854	ENST00000356079.4:c.1036C>T	2.37:g.204154552C>T	ENSP00000348380:p.Leu346Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZG61|Q8N4Q8|Q8WWA9|Q9HC04	Missense_Mutation	SNP	ENST00000356079.4	37	CCDS2357.1	835	0.3823260073260073	84	0.17073170731707318	183	0.505524861878453	158	0.2762237762237762	410	0.5408970976253298	C	14.49	2.549672	0.45383	0.222197	0.562442	ENSG00000119004	ENST00000356079;ENST00000421618;ENST00000429815	T;T	0.70164	-0.46;-0.46	5.6	5.6	0.85130	.	0.060804	0.64402	D	0.000004	T	0.00012	0.0000	L	0.54323	1.7	0.20873	P	0.999831543	B;B	0.12013	0.003;0.005	B;B	0.18871	0.015;0.023	T	0.44997	-0.9291	9	0.12766	T	0.61	-8.4726	19.6715	0.95914	0.0:1.0:0.0:0.0	rs1048013;rs3188004;rs17415875;rs17858536;rs17859053;rs52814168;rs58200424;rs1048013	354;346	E9PHG5;Q6UW02	.;CP20A_HUMAN	F	346;319;354	ENSP00000348380:L346F;ENSP00000407860:L354F	ENSP00000348380:L346F	L	+	1	0	CYP20A1	203862797	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.719000	0.61937	2.667000	0.90743	0.580000	0.79431	CTT		0.318	CYP20A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256328.3	NM_020674	
CYP2D6	1565	mdanderson.org	37	22	42525176	42525176	+	Missense_Mutation	SNP	C	C	A	rs1135823	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42525176C>A	ENST00000360608.5	-	3	478	c.364G>T	c.(364-366)Gcg>Tcg	p.A122S	NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.A122S|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	122					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCATAGCGCGCCAGGAACACC	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		17374	0.0		0.001	False		,,,				2504	0.001					.											0								C	SER/ALA,	1,4049		0,1,2024	20.0	24.0	23.0		364,	4.0	0.0	22	dbSNP_86	23	1,8325		0,1,4162	no	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	99,	0,2,6186	AA,AC,CC		0.012,0.0247,0.0162	benign,	122/498,	42525176	2,12374	2025	4163	6188	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.364G>T	22.37:g.42525176C>A	ENSP00000353820:p.Ala122Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	c	11.04	1.521346	0.27211	2.47E-4	1.2E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.68765	-0.35;-0.35	3.99	3.99	0.46301	.	0.310469	0.26331	N	0.024999	T	0.65004	0.2650	N	0.24115	0.695	0.09310	N	1	B	0.25743	0.133	P	0.48654	0.585	T	0.56086	-0.8037	10	0.10636	T	0.68	.	14.3635	0.66789	0.0:1.0:0.0:0.0	rs1135823;rs17362183	122	Q6NWU0	.	S	122;122;71	ENSP00000353820:A122S;ENSP00000374620:A122S	ENSP00000353820:A122S	A	-	1	0	CYP2D6	40855120	0.438000	0.25602	0.029000	0.17559	0.042000	0.13812	2.317000	0.43770	2.157000	0.67596	0.305000	0.20034	GCG		0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
CYP2D6	1565	mdanderson.org	37	22	42525182	42525182	+	Missense_Mutation	SNP	A	A	T	rs1135822		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42525182A>T	ENST00000360608.5	-	3	472	c.358T>A	c.(358-360)Ttc>Atc	p.F120I	NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.F120I|CYP2D6_ENST00000359033.4_Intron|NDUFA6-AS1_ENST00000608491.1_RNA	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	120			F -> I (in dbSNP:rs1135822). {ECO:0000269|PubMed:15469410}.		alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CGCGCCAGGAACACCCCTGGG	0.677																																						.											0								T	ILE/PHE,	2,4056		0,2,2027	20.0	24.0	23.0		358,	-8.0	0.0	22	dbSNP_86	23	1,8335		0,1,4167	yes	missense,intron	CYP2D6	NM_000106.4,NM_001025161.1	21,	0,3,6194	TT,TA,AA		0.012,0.0493,0.0242	benign,	120/498,	42525182	3,12391	2029	4168	6197	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.358T>A	22.37:g.42525182A>T	ENSP00000353820:p.Phe120Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	ENST00000360608.5	37	CCDS46721.1	.	.	.	.	.	.	.	.	.	.	t	0.353	-0.944029	0.02322	4.93E-4	1.2E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640	T;T	0.67865	-0.29;-0.29	3.99	-7.98	0.01135	.	2.701080	0.01780	N	0.031683	T	0.29126	0.0724	N	0.01751	-0.74	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41752	-0.9491	10	0.05436	T	0.98	.	4.0552	0.09813	0.1994:0.466:0.0957:0.2389	rs1135822;rs17362176;rs28371707	120	Q6NWU0	.	I	120;120;69	ENSP00000353820:F120I;ENSP00000374620:F120I	ENSP00000353820:F120I	F	-	1	0	CYP2D6	40855126	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-5.990000	0.00086	-2.458000	0.00538	-0.867000	0.03001	TTC		0.677	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320525.1		
DAAM1	23002	mdanderson.org	37	14	59830429	59830429	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:59830429A>G	ENST00000395125.1	+	23	2808	c.2785A>G	c.(2785-2787)Agc>Ggc	p.S929G	DAAM1_ENST00000553966.1_3'UTR|DAAM1_ENST00000351081.1_Missense_Mutation_p.S929G|DAAM1_ENST00000360909.3_Missense_Mutation_p.S919G	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	929	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTCTGTTGTCAGCCAGTTCAT	0.463																																						.											0													132.0	119.0	123.0					14																	59830429		2203	4300	6503	SO:0001583	missense	23002			AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2785A>G	14.37:g.59830429A>G	ENSP00000378557:p.Ser929Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	37	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.152407	0.78001	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.19105	2.17;2.17;2.17	5.8	5.8	0.92144	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.25419	0.0618	L	0.48986	1.54	0.80722	D	1	B;B	0.27594	0.177;0.182	B;B	0.35510	0.047;0.204	T	0.04268	-1.0964	10	0.20046	T	0.44	.	16.1606	0.81704	1.0:0.0:0.0:0.0	.	919;929	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	G	919;929;929	ENSP00000354162:S919G;ENSP00000247170:S929G;ENSP00000378557:S929G	ENSP00000247170:S929G	S	+	1	0	DAAM1	58900182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.227000	0.72691	0.460000	0.39030	AGC		0.463	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
DDX11	1663	mdanderson.org	37	12	31238059	31238059	+	Splice_Site	SNP	A	A	G	rs2536756	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:31238059A>G	ENST00000407793.2	+	5	888	c.637A>G	c.(637-639)Aga>Gga	p.R213G	DDX11_ENST00000350437.4_Splice_Site_p.R213G|DDX11_ENST00000545668.1_Splice_Site_p.R213G|DDX11_ENST00000228264.6_Splice_Site_p.R187G|DDX11_ENST00000542838.1_Splice_Site_p.R213G|DDX11_ENST00000251758.5_Splice_Site_p.R213G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	213	Glu-rich.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.R213G(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GGTGGCGAGCAGGTGAGACAG	0.617										Multiple Myeloma(12;0.14)																												.											2	Substitution - Missense(2)	endometrium(2)											34.0	34.0	34.0					12																	31238059		2188	4275	6463	SO:0001630	splice_region_variant	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.638+1A>G	12.37:g.31238059A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	ENST00000407793.2	37	CCDS44856.1	.	.	.	.	.	.	.	.	.	.	G	4.277	0.050506	0.08243	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000251758;ENST00000228264;ENST00000438391;ENST00000415475;ENST00000545668;ENST00000350437	T;T;T;T;T;T;T;T	0.80994	-1.44;-0.58;3.96;-1.35;0.3;3.9;-0.58;-1.13	3.7	1.83	0.25207	Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	1.199170	0.06050	N	0.656456	T	0.67325	0.2881	.	.	.	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.46176	-0.9210	9	0.18276	T	0.48	.	6.974	0.24664	0.2653:0.0:0.7347:0.0	rs2536756;rs61917211	213;213;213;213	B4DZY1;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	G	213;213;213;187;184;187;213;213	ENSP00000443426:R213G;ENSP00000384703:R213G;ENSP00000251758:R213G;ENSP00000228264:R187G;ENSP00000407646:R184G;ENSP00000406457:R187G;ENSP00000440402:R213G;ENSP00000309965:R213G	ENSP00000228264:R187G	R	+	1	2	DDX11	31129326	0.015000	0.18098	0.106000	0.21319	0.007000	0.05969	0.014000	0.13333	-0.026000	0.13895	-1.510000	0.00946	AGA;AGA;AGG;AGA;AGA;AGA;AGA;AGA		0.617	DDX11-202	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399728.1	NM_030653	Missense_Mutation
DDX60L	91351	mdanderson.org	37	4	169374381	169374381	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:169374381C>T	ENST00000511577.1	-	8	1137	c.890G>A	c.(889-891)cGt>cAt	p.R297H	DDX60L_ENST00000505890.1_Missense_Mutation_p.R297H|DDX60L_ENST00000260184.7_Missense_Mutation_p.R297H			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	297							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.R297L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		ACAGAGGCAACGCAGTCTGCA	0.458																																						.											1	Substitution - Missense(1)	lung(1)											88.0	92.0	90.0					4																	169374381		2003	4176	6179	SO:0001583	missense	91351			AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.890G>A	4.37:g.169374381C>T	ENSP00000422423:p.Arg297His	Somatic		WXS	Illumina HiSeq	Phase_I	Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37		.	.	.	.	.	.	.	.	.	.	C	2.777	-0.254392	0.05829	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.15718	2.4;2.4;2.4;3.06	3.3	-1.09	0.09904	.	0.782659	0.10119	N	0.713632	T	0.04452	0.0122	N	0.01009	-1.055	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.01281	0.0;0.0;0.0	T	0.44360	-0.9333	10	0.14656	T	0.56	.	6.5863	0.22622	0.0:0.3112:0.0:0.6888	.	297;297;297	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	H	297;297;297;25	ENSP00000260184:R297H;ENSP00000422423:R297H;ENSP00000422202:R297H;ENSP00000421026:R25H	ENSP00000260184:R297H	R	-	2	0	DDX60L	169610956	0.015000	0.18098	0.001000	0.08648	0.759000	0.43091	0.485000	0.22324	-0.458000	0.07023	-0.444000	0.05651	CGT		0.458	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967	
DICER1	23405	mdanderson.org	37	14	95557673	95557673	+	Silent	SNP	T	T	C	rs201134588		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:95557673T>C	ENST00000526495.1	-	27	5685	c.5394A>G	c.(5392-5394)aaA>aaG	p.K1798K	DICER1_ENST00000343455.3_Silent_p.K1798K|DICER1_ENST00000393063.1_Silent_p.K1798K|DICER1_ENST00000541352.1_Intron|DICER1_ENST00000527414.1_Silent_p.K1798K|DICER1_ENST00000556045.1_Silent_p.K696K|DICER1_ENST00000527416.2_5'Flank			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1798	RNase III 2. {ECO:0000255|PROSITE- ProRule:PRU00177}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac muscle cell development (GO:0055013)|cerebral cortex development (GO:0021987)|defense response to virus (GO:0051607)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|hair follicle cell proliferation (GO:0071335)|hair follicle morphogenesis (GO:0031069)|inner ear receptor cell development (GO:0060119)|intestinal epithelial cell development (GO:0060576)|lung development (GO:0030324)|mRNA stabilization (GO:0048255)|multicellular organism growth (GO:0035264)|negative regulation of Schwann cell proliferation (GO:0010626)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nerve development (GO:0021675)|neuron projection morphogenesis (GO:0048812)|olfactory bulb interneuron differentiation (GO:0021889)|peripheral nervous system myelin formation (GO:0032290)|positive regulation of gene expression (GO:0010628)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of myelination (GO:0031643)|positive regulation of Schwann cell differentiation (GO:0014040)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|production of siRNA involved in RNA interference (GO:0030422)|regulation of cell cycle (GO:0051726)|regulation of enamel mineralization (GO:0070173)|regulation of neuron differentiation (GO:0045664)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of viral genome replication (GO:0045069)|reproductive structure development (GO:0048608)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|spinal cord motor neuron differentiation (GO:0021522)|spindle assembly (GO:0051225)|spleen development (GO:0048536)|stem cell maintenance (GO:0019827)|targeting of mRNA for destruction involved in RNA interference (GO:0030423)|zygote asymmetric cell division (GO:0010070)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|growth cone (GO:0030426)|RISC complex (GO:0016442)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|ribonuclease III activity (GO:0004525)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TATCCTCTTCTTTCTCTTCAT	0.448			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome																													.	yes	Rec	yes	Familial Pleuropulmonary Blastoma	14	14q32.13	23405	"""dicer 1, ribonuclease type III """		"""E, M, O"""	0													188.0	194.0	192.0					14																	95557673		2203	4300	6503	SO:0001819	synonymous_variant	23405	Familial Cancer Database	Adolescent Multinodular Goiter, incl. Multinodular Euthyroid Goiter & Non-Medullary Thyroid Cancer;incl. Pleuropulmonary Blastoma, Familial ; Cystic Nephroma, Familial	AB028449	CCDS9931.1, CCDS55941.1	14q32.13	2014-09-17	2008-02-20		ENSG00000100697	ENSG00000100697			17098	protein-coding gene	gene with protein product	"""dicer 1, double-stranded RNA-specific endoribonuclease"""	606241	"""Dicer1, Dcr-1 homolog (Drosophila)"", ""multinodular goitre 1"""	MNG1		10051563, 10786632, 21205968	Standard	NM_177438		Approved	Dicer, KIAA0928, K12H4.8-LIKE, HERNA	uc001ydw.2	Q9UPY3	OTTHUMG00000166134	ENST00000526495.1:c.5394A>G	14.37:g.95557673T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A7E2D3|B3KRG4|E0AD28|O95943|Q9UQ02	Silent	SNP	ENST00000526495.1	37	CCDS9931.1																																																																																				0.448	DICER1-004	KNOWN	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387997.1		
DMP1	1758	mdanderson.org	37	4	88584283	88584283	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:88584283A>G	ENST00000339673.6	+	6	1452	c.1353A>G	c.(1351-1353)gaA>gaG	p.E451E	RP11-742B18.1_ENST00000507894.1_RNA|RP11-742B18.1_ENST00000506480.1_RNA|DMP1_ENST00000282479.7_Silent_p.E435E|RP11-742B18.1_ENST00000506814.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	451					biomineral tissue development (GO:0031214)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|positive regulation of cell-substrate adhesion (GO:0010811)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		ATTCTGAGGAAGACGACAGTG	0.537																																						.											0													85.0	76.0	79.0					4																	88584283		2203	4300	6503	SO:0001819	synonymous_variant	1758			U34037	CCDS3623.1, CCDS43249.1	4q21	2008-08-29	2008-08-29		ENSG00000152592	ENSG00000152592			2932	protein-coding gene	gene with protein product		600980	"""dentin matrix acidic phosphoprotein"""			8586437, 9177774	Standard	NM_001079911		Approved		uc003hqv.3	Q13316	OTTHUMG00000130598	ENST00000339673.6:c.1353A>G	4.37:g.88584283A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A1L4L3|O43265	Silent	SNP	ENST00000339673.6	37	CCDS3623.1																																																																																				0.537	DMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253047.1		
DNAH17	8632	mdanderson.org	37	17	76547619	76547619	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:76547619T>C	ENST00000585328.1	-	16	2513	c.2389A>G	c.(2389-2391)Aag>Gag	p.K797E	DNAH17_ENST00000389840.5_Missense_Mutation_p.K797E	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	797	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGCTTACCTTCATAGCCTGG	0.512																																						.											0													138.0	108.0	118.0					17																	76547619		2203	4300	6503	SO:0001583	missense	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.2389A>G	17.37:g.76547619T>C	ENSP00000465516:p.Lys797Glu	Somatic		WXS	Illumina HiSeq	Phase_I	O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37		.	.	.	.	.	.	.	.	.	.	T	0.323	-0.960564	0.02267	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.22134	1.97	4.6	-0.881	0.10607	.	.	.	.	.	T	0.13157	0.0319	L	0.37850	1.14	0.22719	N	0.998812	B	0.02656	0.0	B	0.08055	0.003	T	0.39396	-0.9616	9	0.13470	T	0.59	.	7.3558	0.26719	0.0:0.1738:0.5542:0.272	.	499	Q9UFH2-4	.	E	797	ENSP00000374490:K797E	ENSP00000300671:K797E	K	-	1	0	DNAH17	74059214	1.000000	0.71417	0.993000	0.49108	0.030000	0.12068	0.364000	0.20325	-0.062000	0.13088	-0.689000	0.03729	AAG		0.512	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628	
DTD2	112487	mdanderson.org	37	14	31926584	31926584	+	Missense_Mutation	SNP	G	G	A	rs17097904	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:31926584G>A	ENST00000310850.4	-	1	132	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	RP11-176H8.1_ENST00000547378.1_Missense_Mutation_p.R6W|DTD2_ENST00000356180.4_Missense_Mutation_p.R6W	NM_080664.2	NP_542395.1	Q96FN9	DTD2_HUMAN	D-tyrosyl-tRNA deacylase 2 (putative)	6			R -> W (in dbSNP:rs17097904).		D-amino acid catabolic process (GO:0019478)	cytoplasm (GO:0005737)	hydrolase activity, acting on ester bonds (GO:0016788)	p.R6W(1)									TGAGGAATCCGGCTACCCTCA	0.697																																						.											1	Substitution - Missense(1)	skin(1)											12.0	12.0	12.0					14																	31926584		2183	4278	6461	SO:0001583	missense	112487			BC010618	CCDS9643.1	14q12	2012-09-25	2012-09-25	2012-09-25	ENSG00000129480	ENSG00000129480			20277	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 126"""	C14orf126			Standard	NM_080664		Approved	MGC9912	uc001wrj.3	Q96FN9	OTTHUMG00000140205	ENST00000310850.4:c.16C>T	14.37:g.31926584G>A	ENSP00000312224:p.Arg6Trp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DS87	Missense_Mutation	SNP	ENST00000310850.4	37	CCDS9643.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758136	0.69763	.	.	ENSG00000203546;ENSG00000129480;ENSG00000129480	ENST00000547378;ENST00000310850;ENST00000356180	T;T;T	0.55052	0.54;0.71;0.71	4.84	2.97	0.34412	D-Tyr tRNAtyr deacylase-like domain (1);	0.302778	0.30901	N	0.008651	T	0.52419	0.1733	M	0.69823	2.125	0.36855	D	0.888115	D	0.67145	0.996	B	0.43623	0.425	T	0.65220	-0.6221	10	0.87932	D	0	.	11.9711	0.53063	0.0:0.0:0.5428:0.4572	rs17097904	6	Q96FN9	DTD2_HUMAN	W	6	ENSP00000447056:R6W;ENSP00000312224:R6W;ENSP00000348503:R6W	ENSP00000312224:R6W	R	-	1	2	C14orf126;RP11-176H8.1	30996335	0.001000	0.12720	0.005000	0.12908	0.004000	0.04260	0.080000	0.14802	0.618000	0.30179	0.561000	0.74099	CGG		0.697	DTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276614.2	NM_080664	
EIF4G2	1982	mdanderson.org	37	11	10823662	10823662	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:10823662C>T	ENST00000526148.1	-	13	1743	c.1233G>A	c.(1231-1233)ggG>ggA	p.G411G	RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000525681.1_Silent_p.G411G|EIF4G2_ENST00000396525.2_Silent_p.G411G|EIF4G2_ENST00000525995.1_5'Flank|SNORD97_ENST00000459187.1_RNA|EIF4G2_ENST00000339995.5_Silent_p.G411G	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGATGTGTCCCCCATGGCCAT	0.448																																						.											0													139.0	122.0	128.0					11																	10823662		2201	4294	6495	SO:0001819	synonymous_variant	1982			U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.1233G>A	11.37:g.10823662C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000526148.1	37	CCDS31428.1																																																																																				0.448	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418	
DYNC2H1	79659	mdanderson.org	37	11	103090674	103090674	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:103090674A>G	ENST00000375735.2	+	56	9007	c.8863A>G	c.(8863-8865)Aga>Gga	p.R2955G	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R2955G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2955	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAACTTGAAAGACTGAAGCA	0.264																																						.											0													43.0	41.0	41.0					11																	103090674		1787	4046	5833	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.8863A>G	11.37:g.103090674A>G	ENSP00000364887:p.Arg2955Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	A	11.11	1.542244	0.27563	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.74209	-0.82;-0.82	5.87	5.87	0.94306	Dynein heavy chain, coiled coil stalk (1);	0.460130	0.19925	U	0.102996	T	0.54447	0.1859	N	0.08118	0	0.35390	D	0.790719	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.59101	-0.7517	10	0.31617	T	0.26	.	11.2231	0.48866	0.8628:0.0:0.0:0.1372	.	2955;2955	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	G	2955	ENSP00000364887:R2955G;ENSP00000381167:R2955G	ENSP00000364887:R2955G	R	+	1	2	DYNC2H1	102595884	1.000000	0.71417	0.998000	0.56505	0.757000	0.42996	4.123000	0.57917	2.371000	0.80710	0.533000	0.62120	AGA		0.264	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
ENDOU	8909	mdanderson.org	37	12	48104619	48104619	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:48104619T>C	ENST00000422538.3	-	10	1321	c.1199A>G	c.(1198-1200)tAc>tGc	p.Y400C	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_Silent_p.V118V|ENDOU_ENST00000229003.3_Missense_Mutation_p.Y359C|ENDOU_ENST00000545824.2_Missense_Mutation_p.Y337C	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	400					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						TGTGGCGATGTACTTCTTGCC	0.517																																						.											0													225.0	186.0	199.0					12																	48104619		2203	4300	6503	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.1199A>G	12.37:g.48104619T>C	ENSP00000397679:p.Tyr400Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.708021	0.68615	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.32988	1.43;1.45	6.06	3.53	0.40419	.	0.161948	0.56097	D	0.000033	T	0.44307	0.1287	L	0.49571	1.57	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.80764	0.987;0.959;0.994	T	0.22661	-1.0210	10	0.40728	T	0.16	-26.5326	8.6899	0.34260	0.4249:0.0:0.0:0.5751	.	337;400;359	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	C	359;400;337	ENSP00000229003:Y359C;ENSP00000397679:Y400C	ENSP00000229003:Y359C	Y	-	2	0	ENDOU	46390886	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.116000	0.31221	1.074000	0.40909	0.533000	0.62120	TAC		0.517	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2	
ENPP5	59084	mdanderson.org	37	6	46133228	46133228	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:46133228A>G	ENST00000371383.2	-	4	1162	c.902T>C	c.(901-903)gTt>gCt	p.V301A	ENPP5_ENST00000492313.1_5'UTR|ENPP5_ENST00000230565.3_Missense_Mutation_p.V301A					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CCTTTCTGGAACGTCTTCTTT	0.398																																						.											0													234.0	199.0	211.0					6																	46133228		2203	4300	6503	SO:0001583	missense	59084			AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.902T>C	6.37:g.46133228A>G	ENSP00000360436:p.Val301Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000371383.2	37	CCDS4915.1	.	.	.	.	.	.	.	.	.	.	A	15.29	2.790630	0.50102	.	.	ENSG00000112796	ENST00000371383;ENST00000230565	T;T	0.72615	-0.67;-0.67	5.64	5.64	0.86602	Alkaline-phosphatase-like, core domain (1);	0.166514	0.51477	D	0.000088	T	0.57651	0.2068	M	0.73430	2.235	0.23391	N	0.99777	B;B	0.29955	0.263;0.123	B;B	0.29440	0.102;0.102	T	0.60094	-0.7330	10	0.87932	D	0	-9.7515	12.4049	0.55434	0.8743:0.0:0.0:0.1257	.	301;301	A8K9X7;Q9UJA9	.;ENPP5_HUMAN	A	301	ENSP00000360436:V301A;ENSP00000230565:V301A	ENSP00000230565:V301A	V	-	2	0	ENPP5	46241187	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	8.334000	0.90028	2.272000	0.75746	0.460000	0.39030	GTT		0.398	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2		
EPHA3	2042	mdanderson.org	37	3	89498483	89498483	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:89498483T>C	ENST00000336596.2	+	14	2680	c.2455T>C	c.(2455-2457)Tct>Cct	p.S819P	EPHA3_ENST00000494014.1_Missense_Mutation_p.S819P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	819	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GGAGGTGATGTCTTATGGAGA	0.458										TSP Lung(6;0.00050)																												.											0													267.0	243.0	251.0					3																	89498483		2203	4300	6503	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2455T>C	3.37:g.89498483T>C	ENSP00000337451:p.Ser819Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.664232	0.88251	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.64085	-0.08;-0.08	5.34	5.34	0.76211	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81564	0.4849	M	0.87328	2.875	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84556	0.0647	9	.	.	.	.	15.3454	0.74334	0.0:0.0:0.0:1.0	.	819	P29320	EPHA3_HUMAN	P	819	ENSP00000337451:S819P;ENSP00000419190:S819P	.	S	+	1	0	EPHA3	89581173	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.993000	0.88291	2.030000	0.59900	0.533000	0.62120	TCT		0.458	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
EPPK1	83481	mdanderson.org	37	8	144940331	144940331	+	Missense_Mutation	SNP	C	C	T	rs200585601		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:144940331C>T	ENST00000525985.1	-	2	7162	c.7091G>A	c.(7090-7092)cGg>cAg	p.R2364Q				P58107	EPIPL_HUMAN	epiplakin 1	2364						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)	p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTAGCCGCGCCGGTAGGCCAC	0.692																																						.											1	Substitution - Missense(1)	large_intestine(1)						C	GLN/ARG	194,4166		0,194,1986	217.0	211.0	213.0		7091	0.7	1.0	8	dbSNP_134	213	66,8462		0,66,4198	no	missense	EPPK1	NM_031308.1	43	0,260,6184	TT,TC,CC		0.7739,4.4495,2.0174	benign	2364/2420	144940331	260,12628	2180	4264	6444	SO:0001583	missense	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.7091G>A	8.37:g.144940331C>T	ENSP00000436337:p.Arg2364Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37		.	.	.	.	.	.	.	.	.	.	C	7.296	0.612142	0.14066	0.044495	0.007739	ENSG00000227184	ENST00000525985	T	0.74526	-0.85	4.42	0.661	0.17874	.	.	.	.	.	T	0.14184	0.0343	N	0.03903	-0.33	0.21579	N	0.999636	B	0.20550	0.046	B	0.12837	0.008	T	0.14254	-1.0479	9	0.02654	T	1	.	7.4216	0.27075	0.0:0.2871:0.0:0.7129	.	2364	E9PPU0	.	Q	2364	ENSP00000436337:R2364Q	ENSP00000436337:R2364Q	R	-	2	0	EPPK1	145012319	0.742000	0.28228	0.982000	0.44146	0.955000	0.61496	1.358000	0.34102	0.024000	0.15214	-0.482000	0.04802	CGG		0.692	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
EPPK1	83481	mdanderson.org	37	8	144940474	144940474	+	Silent	SNP	C	C	T	rs56015972		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:144940474C>T	ENST00000525985.1	-	2	7019	c.6948G>A	c.(6946-6948)ggG>ggA	p.G2316G				P58107	EPIPL_HUMAN	epiplakin 1	2316						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGATCTGCTGCCCGGTGTAGG	0.706																																						.											0								C		17,4343		0,17,2163	198.0	188.0	192.0		6948	-1.0	1.0	8	dbSNP_129	192	4,8524		0,4,4260	no	coding-synonymous	EPPK1	NM_031308.1		0,21,6423	TT,TC,CC		0.0469,0.3899,0.1629		2316/2420	144940474	21,12867	2180	4264	6444	SO:0001819	synonymous_variant	83481			AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.6948G>A	8.37:g.144940474C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q76E58|Q9NSU9	Silent	SNP	ENST00000525985.1	37																																																																																					0.706	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308	
EVPL	2125	mdanderson.org	37	17	74017573	74017573	+	Silent	SNP	C	C	G	rs78569674	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:74017573C>G	ENST00000301607.3	-	9	1240	c.987G>C	c.(985-987)ctG>ctC	p.L329L	EVPL_ENST00000586740.1_Silent_p.L329L	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	329	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.L329L(1)		breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACGTGCTGCAGCTGGGTCT	0.706																																						.											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											29.0	25.0	26.0					17																	74017573		2201	4297	6498	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.987G>C	17.37:g.74017573C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																				0.706	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
EVPL	2125	mdanderson.org	37	17	74017594	74017594	+	Silent	SNP	A	A	G	rs193119748	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:74017594A>G	ENST00000301607.3	-	9	1219	c.966T>C	c.(964-966)tgT>tgC	p.C322C	EVPL_ENST00000586740.1_Silent_p.C322C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	322	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGCAGATACACAGGTTCA	0.721																																						.											0													29.0	26.0	27.0					17																	74017594		2202	4299	6501	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.966T>C	17.37:g.74017594A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A0AUV5	Silent	SNP	ENST00000301607.3	37	CCDS11737.1																																																																																				0.721	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
F8	2157	mdanderson.org	37	X	154132764	154132764	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:154132764A>G	ENST00000360256.4	-	17	5822	c.5622T>C	c.(5620-5622)ctT>ctC	p.L1874L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1874	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGCAGACCAGAAGGGGTCCAA	0.463																																						.											0													161.0	135.0	144.0					X																	154132764		2203	4300	6503	SO:0001819	synonymous_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5622T>C	X.37:g.154132764A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q14286|Q5HY69	Silent	SNP	ENST00000360256.4	37	CCDS35457.1																																																																																				0.463	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058869.4		
FAM35A	54537	mdanderson.org	37	10	88911273	88911273	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:88911273A>G	ENST00000298784.1	+	3	276	c.162A>G	c.(160-162)aaA>aaG	p.K54K	FAM35A_ENST00000298786.4_Silent_p.K54K|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	54										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AGGATGAAAAACAGCACAAAA	0.348																																					Ovarian(175;703 2004 25460 32514 43441)	.											0													36.0	38.0	37.0					10																	88911273		2202	4297	6499	SO:0001819	synonymous_variant	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.162A>G	10.37:g.88911273A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	CCDS7383.1																																																																																				0.348	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054	
FAM9C	171484	mdanderson.org	37	X	13061295	13061295	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:13061295T>C	ENST00000333995.3	-	3	264	c.134A>G	c.(133-135)gAt>gGt	p.D45G	FAM9C_ENST00000542843.1_Missense_Mutation_p.D45G|FAM9C_ENST00000380625.3_Missense_Mutation_p.D45G			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	45						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CCCATGCTCATCAGTTACATC	0.398																																						.											0													208.0	159.0	176.0					X																	13061295		2203	4300	6503	SO:0001583	missense	171484				CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.134A>G	X.37:g.13061295T>C	ENSP00000334430:p.Asp45Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B2R9G7|Q5HYJ6	Missense_Mutation	SNP	ENST00000333995.3	37	CCDS35203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.05|10.05	1.243495|1.243495	0.22796|0.22796	.|.	.|.	ENSG00000187268|ENSG00000187268	ENST00000542843;ENST00000380625;ENST00000333995|ENST00000438997	T;T;T|.	0.23754|.	1.89;1.89;1.89|.	0.118|0.118	0.118|0.118	0.14667|0.14667	.|.	.|.	.|.	.|.	.|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	1|1	D|.	0.57571|.	0.98|.	P|.	0.57009|.	0.811|.	T|T	0.27226|0.27226	-1.0080|-1.0080	8|4	0.72032|.	D|.	0.01|.	.|.	.|.	.|.	.|.	.|.	45|.	Q8IZT9|.	FAM9C_HUMAN|.	G|V	45|5	ENSP00000439185:D45G;ENSP00000369999:D45G;ENSP00000334430:D45G|.	ENSP00000334430:D45G|.	D|M	-|-	2|1	0|0	FAM9C|FAM9C	12971216|12971216	0.139000|0.139000	0.22563|0.22563	0.026000|0.026000	0.17262|0.17262	0.033000|0.033000	0.12548|0.12548	0.935000|0.935000	0.28924|0.28924	0.153000|0.153000	0.19213|0.19213	0.151000|0.151000	0.16131|0.16131	GAT|ATG		0.398	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901	
FBXW7	55294	mdanderson.org	37	4	153332484	153332484	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:153332484A>G	ENST00000281708.4	-	2	1701	c.472T>C	c.(472-474)Tcc>Ccc	p.S158P	FBXW7_ENST00000603841.1_Missense_Mutation_p.S158P|FBXW7_ENST00000603548.1_Missense_Mutation_p.S158P|FBXW7_ENST00000604872.1_Missense_Mutation_p.S158P	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	158					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATGGGGAGGAGAGTTGGTGA	0.348			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	.		Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	0													173.0	139.0	151.0					4																	153332484		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.472T>C	4.37:g.153332484A>G	ENSP00000281708:p.Ser158Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.900813	0.33535	.	.	ENSG00000109670	ENST00000281708	T	0.56941	0.43	5.54	5.54	0.83059	.	1.610430	0.02973	N	0.144619	T	0.47173	0.1431	N	0.19112	0.55	0.80722	D	1	B	0.34214	0.442	B	0.31869	0.137	T	0.10520	-1.0626	10	0.56958	D	0.05	-3.3189	15.6888	0.77434	1.0:0.0:0.0:0.0	.	158	Q969H0	FBXW7_HUMAN	P	158	ENSP00000281708:S158P	ENSP00000281708:S158P	S	-	1	0	FBXW7	153551934	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.572000	0.60886	2.114000	0.64651	0.528000	0.53228	TCC		0.348	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
FGF9	2254	mdanderson.org	37	13	22275358	22275358	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:22275358A>G	ENST00000382353.5	+	3	941	c.411A>G	c.(409-411)agA>agG	p.R137R	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	137					angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		GTGTATTCAGAGAACAGTTCG	0.383																																					Melanoma(195;1939 2127 12623 13963 52730)	.											0													66.0	60.0	62.0					13																	22275358		2203	4300	6503	SO:0001819	synonymous_variant	2254			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.411A>G	13.37:g.22275358A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K427|Q3SY32	Silent	SNP	ENST00000382353.5	37	CCDS9298.1																																																																																				0.383	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046002.2		
FIGNL2	401720	mdanderson.org	37	12	52215102	52215102	+	lincRNA	SNP	T	T	G	rs303819	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52215102T>G	ENST00000562343.2	+	0	4188				RP11-923I11.4_ENST00000567167.1_lincRNA																							CCTTTGGGAGTCTCCCCCGAC	0.726													G|||	4208	0.840256	0.8094	0.9049	5008	,	,		8567	0.9742		0.8748	False		,,,				2504	0.6626					.											0								G	PRO/THR	2253,337		971,311,13	2.0	2.0	2.0		1096	1.9	0.1	12	dbSNP_79	2	5286,618		2352,582,18	yes	missense	FIGNL2	NM_001013690.4	38	3323,893,31	GG,GT,TT		10.4675,13.0116,11.2432	benign	366/654	52215102	7539,955	1295	2952	4247			401720																															12.37:g.52215102T>G		Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000562343.2	37																																																																																					0.726	RP11-923I11.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000430848.2		
FLG2	388698	mdanderson.org	37	1	152325171	152325171	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:152325171T>C	ENST00000388718.5	-	3	5163	c.5091A>G	c.(5089-5091)ggA>ggG	p.G1697G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1697					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGTCTGTCCATGAGTAG	0.493																																						.											0													413.0	360.0	378.0					1																	152325171		2203	4300	6503	SO:0001819	synonymous_variant	388698			AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5091A>G	1.37:g.152325171T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H4U1	Silent	SNP	ENST00000388718.5	37	CCDS30861.1																																																																																				0.493	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
FLNA	2316	mdanderson.org	37	X	153578045	153578045	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:153578045C>T	ENST00000369850.3	-	46	7760	c.7524G>A	c.(7522-7524)ggG>ggA	p.G2508G	FLNA_ENST00000369856.3_Silent_p.G641G|FLNA_ENST00000360319.4_Silent_p.G2500G|FLNA_ENST00000422373.1_Silent_p.G2500G|FLNA_ENST00000498491.1_5'UTR|FLNA_ENST00000344736.4_Silent_p.G2468G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2508					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGGGCTGCCCCCAATGTGGT	0.627																																						.											0													26.0	30.0	29.0					X																	153578045		1989	4143	6132	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.7524G>A	X.37:g.153578045C>T		Somatic		WXS	Illumina HiSeq	Phase_I	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	ENST00000369850.3	37	CCDS48194.1																																																																																				0.627	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
FRG1B	284802	mdanderson.org	37	20	29624054	29624055	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	TC	TC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:29624054_29624055TC>AA	ENST00000278882.3	+	4	458_459	c.78_79TC>AA	c.(76-81)ccTCca>ccAAca	p.P27T	FRG1B_ENST00000439954.2_Missense_Mutation_p.P32T|FRG1B_ENST00000358464.4_Missense_Mutation_p.P27T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	27										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCCCTAGTCCTCCAGAGCAGTT	0.277																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	Exception_encountered	20.37:g.29624054_29624055delinsAA	ENSP00000278882:p.Pro27Thr	Somatic		WXS	Illumina HiSeq	Phase_I	C4AME5	RNA	DNP	ENST00000278882.3	37																																																																																					0.277	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
FRG1	2483	mdanderson.org	37	4	190883028	190883028	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:190883028C>T	ENST00000226798.4	+	8	903	c.681C>T	c.(679-681)gaC>gaT	p.D227D		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	227					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GTAAAGAAGACAGTAAAATTC	0.323																																						.											0													77.0	95.0	89.0					4																	190883028		2158	4226	6384	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.681C>T	4.37:g.190883028C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1																																																																																				0.323	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
FRG1	2483	mdanderson.org	37	4	190883051	190883051	+	Missense_Mutation	SNP	G	G	A	rs1803593		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:190883051G>A	ENST00000226798.4	+	8	926	c.704G>A	c.(703-705)cGg>cAg	p.R235Q		NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	235					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AAAAAGGCTCGGAAAGATGGA	0.328																																						.											0													81.0	99.0	93.0					4																	190883051		2158	4213	6371	SO:0001583	missense	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.704G>A	4.37:g.190883051G>A	ENSP00000226798:p.Arg235Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A8K775	Missense_Mutation	SNP	ENST00000226798.4	37	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904307	0.52333	.	.	ENSG00000109536	ENST00000226798	T	0.34472	1.36	4.07	3.23	0.37069	.	0.049801	0.85682	D	0.000000	T	0.27967	0.0689	.	.	.	0.58432	D	0.999998	B	0.30439	0.279	B	0.28385	0.089	T	0.07404	-1.0774	9	0.48119	T	0.1	1.7828	10.172	0.42915	0.1019:0.0:0.8981:0.0	rs1803593;rs3202757;rs17435102	235	Q14331	FRG1_HUMAN	Q	235	ENSP00000226798:R235Q	ENSP00000226798:R235Q	R	+	2	0	FRG1	191120045	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.403000	0.79983	0.849000	0.35215	-0.359000	0.07587	CGG		0.328	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477	
GALNT14	79623	mdanderson.org	37	2	31189098	31189098	+	Missense_Mutation	SNP	G	G	A	rs376894318		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:31189098G>A	ENST00000349752.5	-	3	1009	c.370C>T	c.(370-372)Cgc>Tgc	p.R124C	GALNT14_ENST00000324589.5_Missense_Mutation_p.R129C|GALNT14_ENST00000356174.3_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.R89C|GALNT14_ENST00000406653.1_Missense_Mutation_p.R104C	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	124	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AGCGTGGAGCGGGCCTCGTTG	0.592																																						.											0									CYS/ARG	0,4406		0,0,2203	249.0	195.0	213.0		370	2.7	1.0	2		213	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT14	NM_024572.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	124/553	31189098	1,13005	2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.370C>T	2.37:g.31189098G>A	ENSP00000288988:p.Arg124Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	g	18.67	3.673428	0.67928	0.0	1.16E-4	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000420311	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	4.85	2.73	0.32206	Glycosyl transferase, family 2 (1);	0.108216	0.56097	D	0.000027	T	0.76364	0.3977	M	0.89353	3.025	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.77213	-0.2670	10	0.38643	T	0.18	.	11.246	0.48998	0.0:0.0:0.5947:0.4053	.	89;89;129;124;104	F5H263;B7Z5C5;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	C	124;129;104;89	ENSP00000288988:R124C;ENSP00000314500:R129C;ENSP00000385435:R104C;ENSP00000415514:R89C	ENSP00000314500:R129C	R	-	1	0	GALNT14	31042602	1.000000	0.71417	0.999000	0.59377	0.867000	0.49689	1.856000	0.39389	0.990000	0.38787	0.480000	0.44947	CGC		0.592	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
GCC2	9648	mdanderson.org	37	2	109088337	109088337	+	Missense_Mutation	SNP	A	A	G	rs139623765		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:109088337A>G	ENST00000309863.6	+	6	3266	c.2552A>G	c.(2551-2553)cAg>cGg	p.Q851R		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	851					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAAGAAATACAGTCAGAAAAA	0.343																																						.											0													40.0	44.0	43.0					2																	109088337		2199	4298	6497	SO:0001583	missense	9648			BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.2552A>G	2.37:g.109088337A>G	ENSP00000307939:p.Gln851Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	A	11.51	1.661259	0.29515	.	.	ENSG00000135968	ENST00000309863;ENST00000409896;ENST00000393318	T	0.31510	1.49	5.45	0.302	0.15786	.	0.974151	0.08386	N	0.953701	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32481	-0.9905	10	0.18710	T	0.47	.	2.6103	0.04889	0.2759:0.0724:0.1179:0.5338	.	851	Q8IWJ2	GCC2_HUMAN	R	851;814;595	ENSP00000307939:Q851R	ENSP00000307939:Q851R	Q	+	2	0	GCC2	108454769	0.341000	0.24801	0.003000	0.11579	0.953000	0.61014	1.325000	0.33724	-0.102000	0.12197	0.528000	0.53228	CAG		0.343	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635	
GDPD2	54857	mdanderson.org	37	X	69645623	69645623	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:69645623C>T	ENST00000374382.3	+	4	471	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	GDPD2_ENST00000453994.2_Missense_Mutation_p.R74C|GDPD2_ENST00000538649.1_5'UTR|GDPD2_ENST00000536730.1_5'UTR	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	74					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					ATTCCTCTTCCGCCGCTGGGG	0.607																																						.											0													120.0	104.0	109.0					X																	69645623		2203	4300	6503	SO:0001583	missense	54857			AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.220C>T	X.37:g.69645623C>T	ENSP00000363503:p.Arg74Cys	Somatic		WXS	Illumina HiSeq	Phase_I	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469382	0.43839	.	.	ENSG00000130055	ENST00000453994;ENST00000374382	T;T	0.29917	1.55;1.55	5.19	4.32	0.51571	.	1.069260	0.07122	N	0.844137	T	0.29716	0.0742	L	0.44542	1.39	0.18873	N	0.999981	D;P	0.60575	0.988;0.946	B;B	0.41299	0.353;0.333	T	0.17289	-1.0374	9	.	.	.	-0.4479	11.4917	0.50385	0.3236:0.6764:0.0:0.0	.	74;74	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	C	74	ENSP00000414019:R74C;ENSP00000363503:R74C	.	R	+	1	0	GDPD2	69562348	0.135000	0.22499	0.242000	0.24170	0.624000	0.37722	0.680000	0.25306	1.149000	0.42402	0.594000	0.82650	CGC		0.607	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711	
GOLGA6B	55889	mdanderson.org	37	15	72954595	72954595	+	Missense_Mutation	SNP	A	A	G	rs200411442	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:72954595A>G	ENST00000421285.3	+	11	850	c.850A>G	c.(850-852)Aag>Gag	p.K284E	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	284						Golgi apparatus (GO:0005794)		p.K284E(2)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TTTCTCAGCTAAGCCCCCATC	0.522																																						.											2	Substitution - Missense(2)	prostate(2)											36.0	35.0	35.0					15																	72954595		1854	3747	5601	SO:0001583	missense	55889				CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.850A>G	15.37:g.72954595A>G	ENSP00000408132:p.Lys284Glu	Somatic		WXS	Illumina HiSeq	Phase_I	A8MYY7	Missense_Mutation	SNP	ENST00000421285.3	37	CCDS10245.2	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.289869	0.00248	.	.	ENSG00000215186	ENST00000421285	T	0.20598	2.06	0.69	-1.38	0.09027	.	.	.	.	.	T	0.03871	0.0109	N	0.00468	-1.46	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.33111	-0.9881	9	0.02654	T	1	.	6.2533	0.20859	0.2269:0.0:0.7731:0.0	.	284	A6NDN3	GOG6B_HUMAN	E	284	ENSP00000408132:K284E	ENSP00000408132:K284E	K	+	1	0	GOLGA6B	70741649	0.001000	0.12720	0.068000	0.19968	0.040000	0.13550	0.170000	0.16663	-1.260000	0.02465	-1.888000	0.00539	AAG		0.522	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652	
GPR173	54328	mdanderson.org	37	X	53106925	53106925	+	Nonstop_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:53106925A>G	ENST00000332582.4	+	2	1613	c.1122A>G	c.(1120-1122)tgA>tgG	p.*374W		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	0					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGTCATGTGAAGCAGGCTGG	0.612																																						.											0													19.0	19.0	19.0					X																	53106925		2195	4282	6477	SO:0001578	stop_lost	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.1122A>G	X.37:g.53106925A>G	ENSP00000331600:p.*374Trpext*16	Somatic		WXS	Illumina HiSeq	Phase_I	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	A	13.75	2.329990	0.41297	.	.	ENSG00000184194	ENST00000332582	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3254	0.55007	1.0:0.0:0.0:0.0	.	.	.	.	W	374	.	.	X	+	3	0	GPR173	53123650	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.519000	0.81809	1.815000	0.52974	0.425000	0.28330	TGA		0.612	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
GPR112	139378	mdanderson.org	37	X	135494443	135494443	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:135494443T>C	ENST00000394143.1	+	24	9246	c.8955T>C	c.(8953-8955)ttT>ttC	p.F2985F	GPR112_ENST00000287534.4_Intron|GPR112_ENST00000394141.1_Silent_p.F2780F|GPR112_ENST00000370652.1_Silent_p.F2985F|GPR112_ENST00000412101.1_Silent_p.F2780F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2985					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTTTTGTGTTTCACTGTGTGA	0.473																																						.											0													226.0	165.0	186.0					X																	135494443		2203	4300	6503	SO:0001819	synonymous_variant	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8955T>C	X.37:g.135494443T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Silent	SNP	ENST00000394143.1	37	CCDS35409.1																																																																																				0.473	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
GRIA2	2891	mdanderson.org	37	4	158257800	158257800	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:158257800A>G	ENST00000264426.9	+	11	2024	c.1745A>G	c.(1744-1746)gAa>gGa	p.E582G	GRIA2_ENST00000449365.1_Missense_Mutation_p.E535G|GRIA2_ENST00000507898.1_Missense_Mutation_p.E535G|GRIA2_ENST00000393815.2_Missense_Mutation_p.E535G|GRIA2_ENST00000296526.7_Missense_Mutation_p.E582G	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	582					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GATGGAAGAGAAACACAAAGT	0.423																																						.											0													151.0	147.0	148.0					4																	158257800		2203	4300	6503	SO:0001583	missense	2891				CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1745A>G	4.37:g.158257800A>G	ENSP00000264426:p.Glu582Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	A	14.19	2.460118	0.43736	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57	5.66	5.66	0.87406	Ionotropic glutamate receptor (2);	0.292159	0.34362	N	0.004035	T	0.42426	0.1202	N	0.25789	0.76	0.53688	D	0.999979	B;B;B	0.31193	0.312;0.141;0.094	B;B;B	0.28305	0.072;0.088;0.072	T	0.41520	-0.9504	10	0.62326	D	0.03	.	16.1819	0.81915	1.0:0.0:0.0:0.0	.	582;582;535	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	G	535;535;582;582;535	ENSP00000426845:E535G;ENSP00000377403:E535G;ENSP00000296526:E582G;ENSP00000264426:E582G;ENSP00000389837:E535G	ENSP00000264426:E582G	E	+	2	0	GRIA2	158477250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.928000	0.70088	2.279000	0.76181	0.533000	0.62120	GAA		0.423	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
GRIP1	23426	mdanderson.org	37	12	66786508	66786508	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:66786508A>G	ENST00000398016.3	-	17	2130	c.2062T>C	c.(2062-2064)Tta>Cta	p.L688L	GRIP1_ENST00000286445.7_Silent_p.L740L|GRIP1_ENST00000542021.1_5'Flank|GRIP1_ENST00000359742.4_Silent_p.L740L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCCATCTGTAACAAATGGATG	0.438																																						.											0													164.0	152.0	156.0					12																	66786508		1882	4113	5995	SO:0001819	synonymous_variant	23426			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.2062T>C	12.37:g.66786508A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Silent	SNP	ENST00000398016.3	37	CCDS41807.1																																																																																				0.438	GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
HCN2	610	mdanderson.org	37	19	605093	605093	+	Silent	SNP	G	G	A	rs55839339	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:605093G>A	ENST00000251287.2	+	3	1142	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	363					cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCAGCGCGGTGATGAGGA	0.642													g|||	35	0.00698882	0.003	0.0159	5008	,	,		9413	0.002		0.0139	False		,,,				2504	0.0041				Melanoma(145;1175 2427 8056 36306)	.											0								G		34,4372		0,34,2169	89.0	73.0	79.0		1089	-6.8	0.8	19	dbSNP_129	79	170,8424		3,164,4130	no	coding-synonymous	HCN2	NM_001194.3		3,198,6299	AA,AG,GG		1.9781,0.7717,1.5692		363/890	605093	204,12796	2203	4297	6500	SO:0001819	synonymous_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.1089G>A	19.37:g.605093G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O60742|O60743|O75267|Q9UBS2	Silent	SNP	ENST00000251287.2	37	CCDS12035.1																																																																																				0.642	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452100.1	NM_001194	
HDX	139324	mdanderson.org	37	X	83616516	83616516	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:83616516T>C	ENST00000297977.5	-	5	1521	c.1410A>G	c.(1408-1410)gaA>gaG	p.E470E	HDX_ENST00000373177.2_Silent_p.E470E|HDX_ENST00000506585.2_Silent_p.E412E	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	470						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTGCCACAGCTTCAATTTTCT	0.413																																					Pancreas(53;231 1169 36156 43751 51139)	.											0													73.0	60.0	65.0					X																	83616516		2203	4300	6503	SO:0001819	synonymous_variant	139324			BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.1410A>G	X.37:g.83616516T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Silent	SNP	ENST00000297977.5	37	CCDS35342.1																																																																																				0.413	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657	
HERC6	55008	mdanderson.org	37	4	89363472	89363472	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:89363472A>G	ENST00000264346.7	+	23	2988	c.2929A>G	c.(2929-2931)Aga>Gga	p.R977G	HERC6_ENST00000380265.5_Missense_Mutation_p.R941G	NM_017912.3	NP_060382.3	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	977	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				hematopoietic progenitor cell differentiation (GO:0002244)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTCAGTGAAAGAGATCACCC	0.388																																						.											0													85.0	81.0	82.0					4																	89363472		1914	4133	6047	SO:0001583	missense	55008			AF336798	CCDS47098.1, CCDS54777.1	4q22	2012-02-23	2012-02-23		ENSG00000138642	ENSG00000138642			26072	protein-coding gene	gene with protein product		609249	"""hect domain and RLD 6"""				Standard	NM_001165136		Approved	FLJ20637	uc011cdi.2	Q8IVU3	OTTHUMG00000160983	ENST00000264346.7:c.2929A>G	4.37:g.89363472A>G	ENSP00000264346:p.Arg977Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DIY5|Q5GC90|Q5GRH3|Q5HYM6|Q5JPB6|Q6PIF4|Q8NAN3|Q9NWS4	Missense_Mutation	SNP	ENST00000264346.7	37	CCDS47098.1	.	.	.	.	.	.	.	.	.	.	A	7.415	0.635509	0.14322	.	.	ENSG00000138642	ENST00000380265;ENST00000264346	T;T	0.40225	1.04;1.04	4.69	-0.658	0.11428	HECT (4);	2.080580	0.01635	N	0.023721	T	0.30166	0.0756	N	0.20401	0.57	0.39313	D	0.9651	B;B	0.30146	0.228;0.27	B;B	0.28385	0.053;0.089	T	0.07252	-1.0782	10	0.38643	T	0.18	.	9.0489	0.36363	0.5716:0.0:0.4284:0.0	.	941;977	Q8IVU3-2;Q8IVU3	.;HERC6_HUMAN	G	941;977	ENSP00000369617:R941G;ENSP00000264346:R977G	ENSP00000264346:R977G	R	+	1	2	HERC6	89582495	0.026000	0.19158	0.187000	0.23214	0.651000	0.38670	0.056000	0.14256	0.032000	0.15435	0.482000	0.46254	AGA		0.388	HERC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363259.2		
HIST1H2BK	85236	mdanderson.org	37	6	27114224	27114224	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:27114224G>A	ENST00000356950.1	-	1	353	c.354C>T	c.(352-354)gcC>gcT	p.A118A	HIST1H2AH_ENST00000377459.1_5'Flank|HIST1H2BK_ENST00000396891.4_Silent_p.A118A|MIR3143_ENST00000584253.1_RNA			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	118					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						ACTTGGTGACGGCCTTGGTGC	0.557																																						.											0													74.0	81.0	79.0					6																	27114224		2202	4297	6499	SO:0001819	synonymous_variant	85236			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.354C>T	6.37:g.27114224G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K7P7|Q2VPI7	Silent	SNP	ENST00000356950.1	37	CCDS4621.1																																																																																				0.557	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040141.1	NM_080593	
HLA-C	3107	mdanderson.org	37	6	31238942	31238942	+	Missense_Mutation	SNP	G	G	A	rs2308590	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31238942G>A	ENST00000376228.5	-	3	541	c.527C>T	c.(526-528)gCg>gTg	p.A176V	HLA-C_ENST00000383329.3_Missense_Mutation_p.A176V	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	176	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCTCCGCCGCACGGGCCGC	0.677													g|||	1486	0.296725	0.3631	0.3098	5008	,	,		10558	0.244		0.2763	False		,,,				2504	0.273					.											0													35.0	23.0	27.0					6																	31238942		2189	4271	6460	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.527C>T	6.37:g.31238942G>A	ENSP00000365402:p.Ala176Val	Somatic		WXS	Illumina HiSeq	Phase_I	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	ENST00000376228.5	37	CCDS34393.1	1225	0.5608974358974359	287	0.5833333333333334	201	0.5552486187845304	344	0.6013986013986014	393	0.5184696569920845	.	0.893	-0.724867	0.03158	.	.	ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307	T;T	0.00009	9.46;9.46	2.81	-5.62	0.02481	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	75.637500	0.00166	N	0.000000	T	0.00012	0.0000	N	0.00044	-2.455	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.10450	0.005;0.003;0.005;0.003	T	0.50110	-0.8866	10	0.25106	T	0.35	.	2.3839	0.04361	0.2515:0.0841:0.3977:0.2666	rs2308590;rs9264656;rs17839940	176;176;176;176	A2AEA4;A6H578;A2AEA2;P10321	.;.;.;1C07_HUMAN	V	176;176;176;213	ENSP00000365402:A176V;ENSP00000372819:A176V	ENSP00000365402:A176V	A	-	2	0	HLA-C	31346921	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-15.955000	0.00000	-4.565000	0.00042	-3.123000	0.00061	GCG		0.677	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117	
HLA-C	3107	mdanderson.org	37	6	31239518	31239518	+	Silent	SNP	C	C	T	rs1050420	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31239518C>T	ENST00000376228.5	-	2	215	c.201G>A	c.(199-201)ccG>ccA	p.P67P	HLA-C_ENST00000383329.3_Silent_p.P67P	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	67	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCTCCCCTCTCGGACTCGCGG	0.701													t|||	2230	0.445288	0.5363	0.513	5008	,	,		12078	0.2808		0.4314	False		,,,				2504	0.4581					.											0								T		1449,1571		354,741,415	38.0	40.0	39.0		201	-0.2	0.0	6	dbSNP_86	39	2233,3179		465,1303,938	no	coding-synonymous	HLA-C	NM_002117.5		819,2044,1353	TT,TC,CC		41.2602,47.9801,43.667		67/367	31239518	3682,4750	1510	2706	4216	SO:0001819	synonymous_variant	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.201G>A	6.37:g.31239518C>T		Somatic		WXS	Illumina HiSeq	Phase_I	O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	CCDS34393.1	910	0.4166666666666667	245	0.49796747967479676	195	0.5386740331491713	155	0.270979020979021	315	0.4155672823218997	-	6.921	0.539543	0.13250	0.479801	0.412602	ENSG00000204525	ENST00000415537	.	.	.	2.81	-0.177	0.13307	.	.	.	.	.	T	0.11793	0.0287	.	.	.	0.51233	P	8.699999999994823E-5	.	.	.	.	.	.	T	0.24476	-1.0159	3	.	.	.	.	3.289	0.06942	0.0:0.5067:0.2214:0.2719	rs1050420;rs2308551;rs3173347;rs16868214;rs17849592	.	.	.	K	67	.	.	E	-	1	0	HLA-C	31347497	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.011000	0.12721	-0.051000	0.13334	-0.679000	0.03777	GAG		0.701	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117	
HLA-C	3107	mdanderson.org	37	6	31239543	31239544	+	Missense_Mutation	DNP	CG	CG	TT	rs1050428|rs281860356	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	CG	CG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:31239543_31239544CG>TT	ENST00000376228.5	-	2	189_190	c.175_176CG>AA	c.(175-177)CGg>AAg	p.R59K	HLA-C_ENST00000383329.3_Missense_Mutation_p.R59K	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	59	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GCTGTCGAACCGCACGAACTGC	0.678																																						.											0																																										SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.175_176delinsTT	6.37:g.31239543_31239544delinsTT	ENSP00000365402:p.Arg59Lys	Somatic		WXS	Illumina HiSeq	Phase_I	O02864|O02958|Q29643|Q9MY30	Silent	DNP	ENST00000376228.5	37	CCDS34393.1																																																																																				0.678	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3	NM_002117	
HMGXB3	22993	mdanderson.org	37	5	149420404	149420404	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:149420404C>T	ENST00000502717.1	+	14	2971	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	HMGXB3_ENST00000503427.1_Missense_Mutation_p.S804F	NM_014983.2	NP_055798	Q12766	HMGX3_HUMAN	HMG box domain containing 3	1082					phosphorylation (GO:0016310)	nucleus (GO:0005634)	DNA binding (GO:0003677)|kinase activity (GO:0016301)			central_nervous_system(1)|endometrium(3)|kidney(3)|skin(2)	9						CCCAGAGTGTCCATCAATGTT	0.478																																						.											0													185.0	161.0	168.0					5																	149420404		692	1591	2283	SO:0001583	missense	22993			D83778	CCDS54935.1	5q33.1	2011-07-01		2009-01-05	ENSG00000113716	ENSG00000113716		"""High mobility group / Non-canonical"""	28982	protein-coding gene	gene with protein product				HMGX3		8724849	Standard	NM_014983		Approved	SMF, KIAA0194	uc003lrk.4	Q12766	OTTHUMG00000163493	ENST00000502717.1:c.2507C>T	5.37:g.149420404C>T	ENSP00000421917:p.Ser836Phe	Somatic		WXS	Illumina HiSeq	Phase_I	G5E9Y4|Q86UG3|Q9UMF4	Missense_Mutation	SNP	ENST00000502717.1	37	CCDS54935.1	.	.	.	.	.	.	.	.	.	.	C	13.75	2.331803	0.41297	.	.	ENSG00000113716	ENST00000503427;ENST00000502717	T;T	0.49720	0.77;0.77	6.07	4.25	0.50352	.	0.400153	0.30547	N	0.009384	T	0.34513	0.0900	L	0.28274	0.84	0.32679	N	0.515718	P	0.39903	0.694	B	0.37888	0.26	T	0.50389	-0.8834	10	0.87932	D	0	-6.3104	10.4373	0.44443	0.0:0.6792:0.2548:0.066	.	1082	Q12766	HMGX3_HUMAN	F	804;836	ENSP00000422231:S804F;ENSP00000421917:S836F	ENSP00000421917:S836F	S	+	2	0	HMGXB3	149400597	0.978000	0.34361	0.661000	0.29709	0.756000	0.42949	2.421000	0.44688	0.843000	0.35070	0.655000	0.94253	TCC		0.478	HMGXB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373771.1	XM_001717202	
HSD17B10	3028	mdanderson.org	37	X	53458523	53458523	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:53458523C>T	ENST00000168216.6	-	6	642	c.615G>A	c.(613-615)ctG>ctA	p.L205L	HSD17B10_ENST00000375304.5_Silent_p.L196L|HSD17B10_ENST00000375298.4_Missense_Mutation_p.C169Y|RP3-339A18.6_ENST00000418049.1_RNA|HSD17B10_ENST00000495986.1_5'Flank	NM_001037811.2|NM_004493.2	NP_001032900.1|NP_004484.1	Q99714	HCD2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 10	205					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxy-2-methylbutyryl-CoA dehydrogenase activity (GO:0047015)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|cholate 7-alpha-dehydrogenase activity (GO:0008709)|poly(A) RNA binding (GO:0044822)|testosterone dehydrogenase [NAD(P)] activity (GO:0030283)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	8						GGCTGGTCAGCAGTGGGGTGC	0.512																																						.											0													55.0	39.0	44.0					X																	53458523		2203	4297	6500	SO:0001819	synonymous_variant	3028			U96132	CCDS14354.1, CCDS35300.1	Xp11.2	2014-09-17	2006-11-22	2006-11-22	ENSG00000072506	ENSG00000072506	1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	4800	protein-coding gene	gene with protein product	"""type 10 17b-HSD"", ""type 10 17beta-hydroxysteroid dehydrogenase"", ""AB-binding alcohol dehydrogenase"", ""short chain dehydrogenase/reductase family 5C, member 1"", ""mitochondrial RNase P subunit 2"""	300256	"""hydroxyacyl-Coenzyme A dehydrogenase, type II, hydroxyacyl-Coenzyme A dehydrogenase, type II"", ""mental retardation, X-linked, syndromic 10"""	HADH2, MRXS10		9338779, 16899120, 19027726, 18984158, 17236142	Standard	NM_004493		Approved	ERAB, MHBD, 17b-HSD10, ABAD, SDR5C1, MRPP2, CAMR	uc004dsl.1	Q99714	OTTHUMG00000021612	ENST00000168216.6:c.615G>A	X.37:g.53458523C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5H927|Q6IBS9|Q8TCV9|Q96HD5	Silent	SNP	ENST00000168216.6	37	CCDS14354.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689585	0.29962	.	.	ENSG00000072506	ENST00000375298	T	0.80033	-1.33	5.88	5.0	0.66597	.	.	.	.	.	D	0.84401	0.5464	.	.	.	0.25606	N	0.986548	.	.	.	.	.	.	T	0.78748	-0.2083	6	0.87932	D	0	.	15.438	0.75162	0.0:0.8253:0.1747:0.0	.	.	.	.	Y	169	ENSP00000364447:C169Y	ENSP00000364447:C169Y	C	-	2	0	HSD17B10	53475248	0.993000	0.37304	0.998000	0.56505	0.850000	0.48378	0.317000	0.19487	2.489000	0.83994	0.600000	0.82982	TGC		0.512	HSD17B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056750.1	NM_004493	
HNRNPH2	3188	mdanderson.org	37	X	100668187	100668187	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:100668187A>G	ENST00000316594.5	+	2	1289	c.1211A>G	c.(1210-1212)aAc>aGc	p.N404S		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	404	2 X 16 AA Gly-rich approximate repeats.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCTTATCCAACCAGTCTAGT	0.488																																						.											0													202.0	191.0	195.0					X																	100668187		2203	4300	6503	SO:0001583	missense	3188			U01923	CCDS14485.1	Xq22	2013-02-12		2008-04-18	ENSG00000126945	ENSG00000126945		"""RNA binding motif (RRM) containing"""	5042	protein-coding gene	gene with protein product		300610		HNRPH2		7499401	Standard	NM_019597		Approved	hnRNPH', FTP3, HNRPH'	uc004ehn.3	P55795	OTTHUMG00000022029	ENST00000316594.5:c.1211A>G	X.37:g.100668187A>G	ENSP00000361927:p.Asn404Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A1L400|Q9HHA7	Missense_Mutation	SNP	ENST00000316594.5	37	CCDS14485.1	.	.	.	.	.	.	.	.	.	.	A	3.428	-0.116753	0.06838	.	.	ENSG00000126945	ENST00000457902;ENST00000316594	T	0.09817	2.94	4.62	4.62	0.57501	.	0.549745	0.18226	N	0.147723	T	0.06096	0.0158	N	0.22421	0.69	0.38861	D	0.956481	P	0.41673	0.759	B	0.36378	0.223	T	0.41980	-0.9478	10	0.23891	T	0.37	-6.5213	6.0861	0.19968	0.8865:0.0:0.1135:0.0	.	404	P55795	HNRH2_HUMAN	S	359;404	ENSP00000361927:N404S	ENSP00000361927:N404S	N	+	2	0	HNRNPH2	100554843	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.845000	0.55880	1.825000	0.53177	0.417000	0.27973	AAC		0.488	HNRNPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057556.1	NM_019597	
HSF2	3298	mdanderson.org	37	6	122743949	122743949	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:122743949A>G	ENST00000368455.4	+	9	1109	c.917A>G	c.(916-918)gAa>gGa	p.E306G	HSF2_ENST00000452194.1_Missense_Mutation_p.E306G	NM_004506.3	NP_004497.1	Q03933	HSF2_HUMAN	heat shock transcription factor 2	306					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stress (GO:0006950)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		GAGCAGAATGAACCAGCCAGA	0.468																																						.											0													108.0	94.0	99.0					6																	122743949		2203	4300	6503	SO:0001583	missense	3298			M65217	CCDS5124.1, CCDS47470.1	6q22	2008-08-29			ENSG00000025156	ENSG00000025156			5225	protein-coding gene	gene with protein product		140581				1871106	Standard	NM_004506		Approved		uc003pyu.2	Q03933	OTTHUMG00000016216	ENST00000368455.4:c.917A>G	6.37:g.122743949A>G	ENSP00000357440:p.Glu306Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DGJ4|Q0VAH9|Q2M1K4|Q9H445	Missense_Mutation	SNP	ENST00000368455.4	37	CCDS5124.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.002753	0.35320	.	.	ENSG00000025156	ENST00000368455;ENST00000452194	.	.	.	4.98	3.82	0.43975	Vertebrate heat shock transcription factor (1);	0.563006	0.18859	N	0.129191	T	0.33000	0.0848	L	0.47716	1.5	0.38855	D	0.956352	B;B	0.27068	0.167;0.109	B;B	0.30943	0.085;0.122	T	0.15521	-1.0434	9	0.33940	T	0.23	-6.8951	9.5176	0.39115	0.9198:0.0:0.0802:0.0	.	306;306	Q03933-2;Q03933	.;HSF2_HUMAN	G	306	.	ENSP00000357440:E306G	E	+	2	0	HSF2	122785648	0.998000	0.40836	0.967000	0.41034	0.855000	0.48748	2.539000	0.45718	1.031000	0.39867	0.533000	0.62120	GAA		0.468	HSF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043520.1	NM_004506	
IGSF10	285313	mdanderson.org	37	3	151165120	151165120	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:151165120T>C	ENST00000282466.3	-	4	2648	c.2649A>G	c.(2647-2649)caA>caG	p.Q883Q		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	883					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGGTTGTGCCTTGTATTTGGC	0.423																																						.											0													357.0	356.0	356.0					3																	151165120		2203	4300	6503	SO:0001819	synonymous_variant	285313			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2649A>G	3.37:g.151165120T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q86YJ9|Q8N772|Q8NA84	Silent	SNP	ENST00000282466.3	37	CCDS3160.1																																																																																				0.423	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822	
IKBKE	9641	mdanderson.org	37	1	206650108	206650108	+	Missense_Mutation	SNP	A	A	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:206650108A>T	ENST00000367120.3	+	7	1001	c.628A>T	c.(628-630)Acc>Tcc	p.T210S	IKBKE_ENST00000537984.1_Missense_Mutation_p.T125S	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	210	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CATTGGAGTGACCTTGTACCA	0.597																																						.											0													111.0	92.0	99.0					1																	206650108		2203	4300	6503	SO:0001583	missense	9641			AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.628A>T	1.37:g.206650108A>T	ENSP00000356087:p.Thr210Ser	Somatic		WXS	Illumina HiSeq	Phase_I	D3DT78|Q3B754|Q3KR43|Q5JTS6	Missense_Mutation	SNP	ENST00000367120.3	37	CCDS30996.1	.	.	.	.	.	.	.	.	.	.	A	29.2	4.986030	0.93044	.	.	ENSG00000143466	ENST00000367120;ENST00000537984	T;T	0.46819	0.86;1.71	5.13	5.13	0.70059	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.82923	2.615	0.53688	D	0.999976	P;D	0.63880	0.911;0.993	P;D	0.64595	0.605;0.927	T	0.75218	-0.3395	10	0.72032	D	0.01	3.0E-4	14.9434	0.71012	1.0:0.0:0.0:0.0	.	125;210	Q3B754;Q14164	.;IKKE_HUMAN	S	210;125	ENSP00000356087:T210S;ENSP00000444529:T125S	ENSP00000356087:T210S	T	+	1	0	IKBKE	204716731	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	8.942000	0.92970	1.928000	0.55862	0.454000	0.30748	ACC		0.597	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
ITGB4	3691	mdanderson.org	37	17	73752787	73752787	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:73752787T>C	ENST00000200181.3	+	37	5087	c.4900T>C	c.(4900-4902)Tcc>Ccc	p.S1634P	GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000579662.1_Missense_Mutation_p.S1564P|ITGB4_ENST00000339591.3_Missense_Mutation_p.S1617P|ITGB4_ENST00000449880.2_Missense_Mutation_p.S1617P|ITGB4_ENST00000450894.3_Missense_Mutation_p.S1564P	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1634					amelogenesis (GO:0097186)|autophagy (GO:0006914)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell motility (GO:0048870)|cell-matrix adhesion (GO:0007160)|digestive tract development (GO:0048565)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|mesodermal cell differentiation (GO:0048333)|nail development (GO:0035878)|renal system development (GO:0072001)|response to wounding (GO:0009611)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|hemidesmosome (GO:0030056)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor binding (GO:0001664)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCCCCAGGCTCCGCCTTCAC	0.682																																						.											0													55.0	55.0	55.0					17																	73752787		2203	4298	6501	SO:0001583	missense	3691				CCDS11727.1, CCDS32736.1, CCDS58599.1	17q25.1	2013-09-19			ENSG00000132470	ENSG00000132470		"""CD molecules"", ""Integrins"", ""Fibronectin type III domain containing"""	6158	protein-coding gene	gene with protein product		147557				2070796	Standard	XM_005257309		Approved	CD104	uc002jpg.3	P16144	OTTHUMG00000179814	ENST00000200181.3:c.4900T>C	17.37:g.73752787T>C	ENSP00000200181:p.Ser1634Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVL6|O14690|O14691|O15339|O15340|O15341|Q0VF97|Q9UIQ4	Missense_Mutation	SNP	ENST00000200181.3	37	CCDS11727.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140134	0.37825	.	.	ENSG00000132470	ENST00000200181;ENST00000339591;ENST00000449880	T;T;T	0.54071	0.59;0.59;0.59	5.04	5.04	0.67666	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.51422	1.61	0.80722	D	1	P;D;P	0.89917	0.709;1.0;0.905	P;D;P	0.85130	0.802;0.997;0.628	T	0.70788	-0.4777	10	0.87932	D	0	.	15.0763	0.72080	0.0:0.0:0.0:1.0	.	1617;1564;1634	P16144-3;A0AVL6;P16144	.;.;ITB4_HUMAN	P	1634;1617;1617	ENSP00000200181:S1634P;ENSP00000344079:S1617P;ENSP00000400217:S1617P	ENSP00000200181:S1634P	S	+	1	0	ITGB4	71264382	1.000000	0.71417	0.937000	0.37676	0.496000	0.33645	4.247000	0.58750	2.036000	0.60181	0.379000	0.24179	TCC		0.682	ITGB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000448334.1		
KDM1A	23028	mdanderson.org	37	1	23408744	23408744	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:23408744C>T	ENST00000356634.3	+	18	2407	c.2258C>T	c.(2257-2259)gCt>gTt	p.A753V	KDM1A_ENST00000542151.1_Missense_Mutation_p.A777V|KDM1A_ENST00000400181.4_Missense_Mutation_p.A777V|RP1-184J9.2_ENST00000427154.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	753	Demethylase activity.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CGTTGGCGTGCTGATCCCTGG	0.473																																						.											0													103.0	91.0	95.0					1																	23408744		2203	4300	6503	SO:0001583	missense	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.2258C>T	1.37:g.23408744C>T	ENSP00000349049:p.Ala753Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	ENST00000356634.3	37	CCDS30627.1	.	.	.	.	.	.	.	.	.	.	C	35	5.451613	0.96205	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.10382	2.88;2.88;2.88	5.93	5.01	0.66863	Amine oxidase (1);	0.000000	0.85682	D	0.000000	T	0.24044	0.0582	L	0.53561	1.675	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.59012	0.787;0.85	T	0.00054	-1.2182	10	0.59425	D	0.04	-18.7936	14.6427	0.68737	0.0:0.9295:0.0:0.0705	.	777;753	O60341-2;O60341	.;KDM1A_HUMAN	V	753;777;777	ENSP00000349049:A753V;ENSP00000383042:A777V;ENSP00000439072:A777V	ENSP00000349049:A753V	A	+	2	0	KDM1A	23281331	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCT		0.473	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008880.3	NM_015013	
KCNT2	343450	mdanderson.org	37	1	196227480	196227480	+	Silent	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:196227480G>T	ENST00000294725.9	-	26	3970	c.3055C>A	c.(3055-3057)Cga>Aga	p.R1019R	KCNT2_ENST00000367431.4_Silent_p.R953R|KCNT2_ENST00000609185.1_Silent_p.R952R|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Silent_p.R995R|KCNT2_ENST00000451324.2_3'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1019					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CTCAGTCTTCGGGCCCACTGC	0.517																																						.											0													152.0	131.0	138.0					1																	196227480		2203	4300	6503	SO:0001819	synonymous_variant	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3055C>A	1.37:g.196227480G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q3SY59|Q5VTN1|Q6ZMT3	Silent	SNP	ENST00000294725.9	37	CCDS1384.1																																																																																				0.517	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	
KIAA0319	9856	mdanderson.org	37	6	24588884	24588884	+	Missense_Mutation	SNP	C	C	T	rs4504469	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:24588884C>T	ENST00000378214.3	-	4	1455	c.931G>A	c.(931-933)Gca>Aca	p.A311T	KIAA0319_ENST00000537886.1_Missense_Mutation_p.A311T|KIAA0319_ENST00000430948.2_Missense_Mutation_p.A266T|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A302T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A311T	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	311			A -> T (may be associated with susceptibility to dyslexia; dbSNP:rs4504469). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:15717286}.		negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GAGGGGGCTGCGCTAGTGGGA	0.537													C|||	1031	0.205871	0.0371	0.2248	5008	,	,		16182	0.1121		0.4225	False		,,,				2504	0.2945					.											0			GRCh37	CM057333	KIAA0319	M	rs4504469	C	THR/ALA,THR/ALA,THR/ALA,THR/ALA,THR/ALA	423,3983	205.5+/-227.4	18,387,1798	153.0	134.0	140.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	904,931,796,931,931	-4.6	0.0	6	dbSNP_111	140	3471,5129	509.3+/-377.2	721,2029,1550	yes	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	58,58,58,58,58	739,2416,3348	TT,TC,CC		40.3605,9.6005,29.94	benign,benign,benign,benign,benign	302/1064,311/1073,266/1028,311/1012,311/1073	24588884	3894,9112	2203	4300	6503	SO:0001583	missense	9856			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.931G>A	6.37:g.24588884C>T	ENSP00000367459:p.Ala311Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	508	0.2326007326007326	20	0.04065040650406504	80	0.22099447513812154	71	0.12412587412587413	337	0.4445910290237467	C	3.297	-0.143640	0.06627	0.096005	0.403605	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06608	3.28;3.28;3.29;3.29;3.29	4.15	-4.6	0.03390	Fibronectin, type III (1);	0.966085	0.08434	N	0.946419	T	0.00440	0.0014	N	0.00500	-1.43	0.80722	P	0.0	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.47394	-0.9121	9	0.13470	T	0.59	0.5859	7.8238	0.29303	0.0:0.5077:0.1377:0.3546	rs4504469;rs52835077;rs4504469	311;302;311	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	T	311;302;266;311;311	ENSP00000439700:A311T;ENSP00000442403:A302T;ENSP00000401086:A266T;ENSP00000367459:A311T;ENSP00000437656:A311T	ENSP00000367459:A311T	A	-	1	0	KIAA0319	24696863	0.000000	0.05858	0.000000	0.03702	0.043000	0.13939	-1.525000	0.02231	-1.160000	0.02804	-0.483000	0.04790	GCA		0.537	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
KLHL13	90293	mdanderson.org	37	X	117053557	117053557	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:117053557T>C	ENST00000262820.3	-	4	1406	c.497A>G	c.(496-498)gAc>gGc	p.D166G	KLHL13_ENST00000545703.1_Missense_Mutation_p.D124G|KLHL13_ENST00000371878.1_Missense_Mutation_p.D115G|KLHL13_ENST00000371876.1_Missense_Mutation_p.D115G|KLHL13_ENST00000539496.1_Missense_Mutation_p.D169G|KLHL13_ENST00000541812.1_Missense_Mutation_p.D150G|KLHL13_ENST00000540167.1_Missense_Mutation_p.D150G|KLHL13_ENST00000371882.1_Missense_Mutation_p.D115G|KLHL13_ENST00000469946.1_Missense_Mutation_p.D115G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	166					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCCAGCGTGTCTTGAAGGTT	0.368																																						.											0													75.0	80.0	78.0					X																	117053557		2203	4300	6503	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.497A>G	X.37:g.117053557T>C	ENSP00000262820:p.Asp166Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	ENST00000262820.3	37	CCDS14571.1	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934356	0.52866	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52;-0.52	5.07	5.07	0.68467	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.76709	0.4025	L	0.58583	1.82	0.80722	D	1	P;D;P;P	0.58620	0.86;0.983;0.875;0.885	B;P;P;P	0.57101	0.43;0.813;0.614;0.665	T	0.75136	-0.3424	10	0.30854	T	0.27	.	13.9563	0.64150	0.0:0.0:0.0:1.0	.	150;169;160;166	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	G	115;115;115;115;150;150;169;166;124;115	ENSP00000360949:D115G;ENSP00000360943:D115G;ENSP00000360945:D115G;ENSP00000412640:D115G;ENSP00000444450:D150G;ENSP00000441029:D150G;ENSP00000443191:D169G;ENSP00000262820:D166G;ENSP00000440707:D124G;ENSP00000419803:D115G	ENSP00000262820:D166G	D	-	2	0	KLHL13	116937585	1.000000	0.71417	1.000000	0.80357	0.047000	0.14425	7.868000	0.87116	1.870000	0.54199	0.412000	0.27726	GAC		0.368	KLHL13-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_033495	
KLHL42	57542	mdanderson.org	37	12	27934040	27934040	+	Silent	SNP	C	C	T	rs538490560		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:27934040C>T	ENST00000381271.2	+	1	1088	c.777C>T	c.(775-777)ggC>ggT	p.G259G	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	259					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											TCATAGTGGGCGGGTACAGGA	0.582																																						.											0													71.0	60.0	63.0					12																	27934040		2203	4300	6503	SO:0001819	synonymous_variant	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.777C>T	12.37:g.27934040C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q2VPK1|Q8N334	Silent	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435082	0.25813	.	.	ENSG00000087448	ENST00000543254	.	.	.	4.73	-0.46	0.12175	.	.	.	.	.	T	0.40322	0.1112	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.24941	-1.0146	4	.	.	.	.	1.426	0.02323	0.2391:0.4129:0.1105:0.2374	.	.	.	.	W	81	.	.	R	+	1	2	KLHDC5	27825307	0.030000	0.19436	0.998000	0.56505	0.995000	0.86356	-0.824000	0.04438	0.065000	0.16485	0.586000	0.80456	CGG		0.582	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
KRT80	144501	mdanderson.org	37	12	52574312	52574312	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52574312T>C	ENST00000394815.2	-	4	748	c.651A>G	c.(649-651)aaA>aaG	p.K217K	KRT80_ENST00000313234.5_Silent_p.K217K	NM_182507.2	NP_872313.2	Q6KB66	K2C80_HUMAN	keratin 80	217	Coil 1B.|Rod.					cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		CATAGATGGTTTTCATCAACT	0.542																																					GBM(178;2309 2916 15678 35873)	.											0													156.0	159.0	158.0					12																	52574312		2203	4300	6503	SO:0001819	synonymous_variant	144501			BX537567	CCDS8821.2, CCDS41784.1	12q13.13	2013-01-16			ENSG00000167767	ENSG00000167767		"""-"", ""Intermediate filaments type II, keratins (basic)"""	27056	protein-coding gene	gene with protein product		611161				16831889	Standard	NM_001081492		Approved	KB20	uc001rzx.3	Q6KB66	OTTHUMG00000150193	ENST00000394815.2:c.651A>G	12.37:g.52574312T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6P1A5|Q7Z3Q0	Silent	SNP	ENST00000394815.2	37	CCDS8821.2																																																																																				0.542	KRT80-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316757.1	NM_182507	
KRT81	3887	mdanderson.org	37	12	52681460	52681460	+	Missense_Mutation	SNP	G	G	A	rs4761786	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:52681460G>A	ENST00000327741.5	-	6	1014	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	316	Coil 2.|Rod.		R -> C (in dbSNP:rs4761786).			extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGTGCGGCGCAGGGTCTCC	0.592													.|||	26	0.00519169	0.0	0.0043	5008	,	,		19481	0.0		0.0209	False		,,,				2504	0.002					.											0								G	CYS/ARG	7,4399	11.4+/-27.6	0,7,2196	89.0	75.0	80.0		946	3.8	1.0	12	dbSNP_111	80	72,8520	43.1+/-100.9	1,70,4225	no	missense	KRT81	NM_002281.3	180	1,77,6421	AA,AG,GG		0.838,0.1589,0.6078	probably-damaging	316/506	52681460	79,12919	2203	4296	6499	SO:0001583	missense	3887			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.946C>T	12.37:g.52681460G>A	ENSP00000369349:p.Arg316Cys	Somatic		WXS	Illumina HiSeq	Phase_I	Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	CCDS31805.1	19	0.0086996336996337	0	0.0	1	0.0027624309392265192	0	0.0	18	0.023746701846965697	G	17.75	3.466900	0.63625	0.001589	0.00838	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.90197	-2.63	4.7	3.79	0.43588	Filament (1);	0.000000	0.44688	U	0.000421	D	0.92404	0.7589	M	0.91663	3.23	0.46279	D	0.998961	D	0.89917	1.0	D	0.79108	0.992	D	0.92586	0.6079	10	0.66056	D	0.02	.	13.1775	0.59635	0.0794:0.0:0.9206:0.0	rs4761786	316	Q14533	KRT81_HUMAN	C	316	ENSP00000369349:R316C	ENSP00000369349:R316C	R	-	1	0	KRT81	50967727	0.001000	0.12720	1.000000	0.80357	0.997000	0.91878	0.975000	0.29449	2.139000	0.66308	0.561000	0.74099	CGC		0.592	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281	
KRTAP4-8	728224	mdanderson.org	37	17	39254124	39254124	+	Silent	SNP	C	C	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39254124C>G	ENST00000333822.4	-	1	269	c.213G>C	c.(211-213)gtG>gtC	p.V71V		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCAGCTGGACACACAGCAGC	0.667																																						.											0													5.0	8.0	7.0					17																	39254124		620	1442	2062	SO:0001819	synonymous_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.213G>C	17.37:g.39254124C>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
KRTAP4-8	728224	mdanderson.org	37	17	39254127	39254127	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39254127A>G	ENST00000333822.4	-	1	266	c.210T>C	c.(208-210)tgT>tgC	p.C70C		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	70	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						AGCTGGACACACAGCAGCTGG	0.667																																						.											0													5.0	8.0	7.0					17																	39254127		619	1439	2058	SO:0001819	synonymous_variant	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.210T>C	17.37:g.39254127A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8MSH3	Silent	SNP	ENST00000333822.4	37	CCDS45674.1																																																																																				0.667	KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
KRTAP4-5	85289	mdanderson.org	37	17	39305785	39305785	+	Missense_Mutation	SNP	A	A	T	rs411367		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:39305785A>T	ENST00000343246.4	-	1	269	c.235T>A	c.(235-237)Tgc>Agc	p.C79S		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	79	26 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggcagcagcaggggcggcag	0.657																																						.											0													12.0	18.0	16.0					17																	39305785		2089	4172	6261	SO:0001583	missense	85289			AJ406937	CCDS32650.1	17q21.2	2013-06-25			ENSG00000198271	ENSG00000198271		"""Keratin associated proteins"""	18899	protein-coding gene	gene with protein product						11279113	Standard	NM_033188		Approved	KAP4.5	uc002hwb.3	Q9BYR2	OTTHUMG00000133638	ENST00000343246.4:c.235T>A	17.37:g.39305785A>T	ENSP00000340546:p.Cys79Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000343246.4	37	CCDS32650.1	773	0.35393772893772896	210	0.4268292682926829	126	0.34806629834254144	175	0.30594405594405594	262	0.34564643799472294	.	0.010	-1.763522	0.00651	.	.	ENSG00000198271	ENST00000343246	T	0.00534	6.74	2.78	-5.56	0.02529	.	0.768893	0.10092	N	0.717076	T	0.00012	0.0000	N	0.01431	-0.87	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.23297	-1.0192	9	0.02654	T	1	.	5.4481	0.16548	0.6146:0.0:0.1542:0.2312	rs411367;rs6503604	79	Q9BYR2	KRA45_HUMAN	S	79	ENSP00000340546:C79S	ENSP00000340546:C79S	C	-	1	0	KRTAP4-5	36559311	0.977000	0.34250	0.000000	0.03702	0.000000	0.00434	-0.260000	0.08708	-1.272000	0.02427	-2.057000	0.00402	TGC		0.657	KRTAP4-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257783.1		
KRTAP5-4	387267	mdanderson.org	37	11	1642976	1642976	+	Silent	SNP	A	A	C	rs569029116	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1642976A>C	ENST00000399682.1	-	1	392	c.348T>G	c.(346-348)ggT>ggG	p.G116G		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G116G(3)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAACCCCCACAGG	0.662													a|||	27	0.00539137	0.0068	0.0	5008	,	,		10207	0.001		0.005	False		,,,				2504	0.0123					.											3	Substitution - coding silent(3)	endometrium(2)|prostate(1)											10.0	20.0	17.0					11																	1642976		677	1565	2242	SO:0001819	synonymous_variant	387267			AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.348T>G	11.37:g.1642976A>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000399682.1	37																																																																																					0.662	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709	
LACTB	114294	mdanderson.org	37	15	63419154	63419154	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:63419154T>C	ENST00000261893.4	+	3	593	c.521T>C	c.(520-522)cTt>cCt	p.L174P	RPS27L_ENST00000559763.1_Intron|LACTB_ENST00000413507.2_Missense_Mutation_p.L174P	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	174						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						ATGGTTGCTCTTGCCAAATTG	0.413																																					Melanoma(85;443 1381 6215 27308 35583)	.											0													115.0	99.0	104.0					15																	63419154		2203	4300	6503	SO:0001583	missense	114294			AK027808	CCDS10182.1, CCDS45275.1	15q22.1	2012-11-14	2001-12-12	2001-12-14	ENSG00000103642	ENSG00000103642		"""Mitochondrial ribosomal proteins / large subunits"""	16468	protein-coding gene	gene with protein product		608440	"""mitochondrial ribosomal protein L56"""	MRPL56		11707067	Standard	NM_032857		Approved	FLJ14902	uc002alw.3	P83111	OTTHUMG00000132807	ENST00000261893.4:c.521T>C	15.37:g.63419154T>C	ENSP00000261893:p.Leu174Pro	Somatic		WXS	Illumina HiSeq	Phase_I	P83096	Missense_Mutation	SNP	ENST00000261893.4	37	CCDS10182.1	.	.	.	.	.	.	.	.	.	.	T	17.88	3.496750	0.64186	.	.	ENSG00000103642	ENST00000261893;ENST00000413507	T;T	0.52526	0.66;0.66	5.58	5.58	0.84498	Beta-lactamase/transpeptidase-like (2);Beta-lactamase-related (1);	0.425264	0.26828	N	0.022291	T	0.67739	0.2925	M	0.76002	2.32	0.80722	D	1	D	0.63880	0.993	D	0.67725	0.953	T	0.71932	-0.4443	10	0.87932	D	0	-4.3201	14.9367	0.70960	0.0:0.0:0.0:1.0	.	174	P83111	LACTB_HUMAN	P	174	ENSP00000261893:L174P;ENSP00000392956:L174P	ENSP00000261893:L174P	L	+	2	0	LACTB	61206207	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.845000	0.62853	2.126000	0.65437	0.460000	0.39030	CTT		0.413	LACTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256224.1	NM_032857	
LCAT	3931	mdanderson.org	37	16	67974190	67974190	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:67974190C>T	ENST00000264005.5	-	6	969	c.940G>A	c.(940-942)Ggc>Agc	p.G314S		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	314					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ATGTACCAGCCTTCCTCAAAG	0.587																																						.											0													104.0	90.0	95.0					16																	67974190		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.940G>A	16.37:g.67974190C>T	ENSP00000264005:p.Gly314Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	C	34	5.408259	0.96051	.	.	ENSG00000213398	ENST00000264005	D	0.95788	-3.81	5.88	5.88	0.94601	.	0.000000	0.64402	U	0.000001	D	0.98570	0.9522	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	-25.9727	17.7309	0.88377	0.0:1.0:0.0:0.0	.	314	P04180	LCAT_HUMAN	S	314	ENSP00000264005:G314S	ENSP00000264005:G314S	G	-	1	0	LCAT	66531691	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.823000	0.62694	2.788000	0.95919	0.555000	0.69702	GGC		0.587	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		
LILRB3	11025	mdanderson.org	37	19	54725992	54725992	+	Silent	SNP	G	G	A	rs148339740	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:54725992G>A	ENST00000391750.1	-	5	502	c.366C>T	c.(364-366)agC>agT	p.S122S	LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Silent_p.S122S|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000424807.1_Silent_p.S122S|LILRB3_ENST00000245620.9_Silent_p.S122S|LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000346401.6_Silent_p.S122S|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000391735.3_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	122	Ig-like C2-type 2.		S -> N (in dbSNP:rs3826750). {ECO:0000269|PubMed:9278324}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGGGTTTGCTGTAGGCTC	0.592													.|||	959	0.191494	0.1029	0.1744	5008	,	,		13407	0.1071		0.2495	False		,,,				2504	0.3507					.											0													62.0	40.0	48.0					19																	54725992		2132	3919	6051	SO:0001819	synonymous_variant	11025			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.366C>T	19.37:g.54725992G>A		Somatic		WXS	Illumina HiSeq	Phase_I	C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	ENST00000391750.1	37	CCDS33105.1																																																																																				0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142844.5	NM_006864	
LILRB2	10288	mdanderson.org	37	19	54778570	54778570	+	Silent	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:54778570C>T	ENST00000391749.4	-	14	2035	c.1764G>A	c.(1762-1764)gaG>gaA	p.E588E	LILRB2_ENST00000391748.1_Silent_p.E587E|LILRB2_ENST00000314446.5_Silent_p.E587E|LILRB2_ENST00000434421.1_Silent_p.E472E|LILRB2_ENST00000391746.1_3'UTR	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	588					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AGATGCTGGGCTCAGCTGGAG	0.617																																						.											0													132.0	114.0	120.0					19																	54778570		2203	4300	6503	SO:0001819	synonymous_variant	10288			AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1764G>A	19.37:g.54778570C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	CCDS12886.1																																																																																				0.617	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1		
LILRB1	10859	mdanderson.org	37	19	55148076	55148076	+	Silent	SNP	G	G	A	rs62133433	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:55148076G>A	ENST00000396331.1	+	15	2136	c.1779G>A	c.(1777-1779)gcG>gcA	p.A593A	LILRB1_ENST00000396321.2_Silent_p.A593A|LILRB1_ENST00000324602.7_Silent_p.A595A|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000427581.2_Silent_p.A644A|LILRB1_ENST00000396317.1_Silent_p.A577A|LILRB1_ENST00000434867.2_Silent_p.A593A|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000396332.4_Silent_p.A594A|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000418536.2_Silent_p.A577A|LILRB1_ENST00000396315.1_Silent_p.A595A|LILRB1_ENST00000396327.3_Silent_p.A594A	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	593					cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGACAGGCGGAAGAGGACA	0.602										HNSCC(37;0.09)																												.											0								G	,,,	84,4312	22.3+/-47.3	7,70,2121	98.0	83.0	88.0		1785,1782,1782,1779	-2.6	0.0	19	dbSNP_129	88	77,8511	6.4+/-24.3	3,71,4220	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	LILRB1	NM_001081637.1,NM_001081638.1,NM_001081639.1,NM_006669.3	,,,	10,141,6341	AA,AG,GG		0.8966,1.9108,1.24	,,,	595/653,594/652,594/652,593/651	55148076	161,12823	2198	4294	6492	SO:0001819	synonymous_variant	10859			AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.1779G>A	19.37:g.55148076G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Silent	SNP	ENST00000396331.1	37	CCDS42617.1																																																																																				0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
LILRB4	11006	mdanderson.org	37	19	55179145	55179145	+	Missense_Mutation	SNP	A	A	T	rs61738946	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:55179145A>T	ENST00000391736.1	+	13	1416	c.1101A>T	c.(1099-1101)agA>agT	p.R367S	LILRB4_ENST00000270452.2_Missense_Mutation_p.R367S|LILRB4_ENST00000391733.3_Missense_Mutation_p.R368S|LILRB4_ENST00000430952.2_Missense_Mutation_p.R366S|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	367					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AACACTCCAGACCTAGGAGAG	0.567																																						.											0													116.0	118.0	117.0					19																	55179145		2203	4300	6503	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1101A>T	19.37:g.55179145A>T	ENSP00000375616:p.Arg367Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	23	0.010531135531135532	16	0.032520325203252036	2	0.0055248618784530384	0	0.0	5	0.006596306068601583	A	6.892	0.534167	0.13188	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	T;T;T;T;T	0.00505	6.93;6.93;7.0;6.94;6.93	1.73	1.73	0.24493	.	.	.	.	.	T	0.00144	0.0004	L	0.41710	1.295	0.09310	N	1	B;B;B;B	0.23490	0.002;0.086;0.086;0.043	B;B;B;B	0.12837	0.0;0.008;0.008;0.007	T	0.40627	-0.9553	9	0.27785	T	0.31	.	5.5252	0.16955	1.0:0.0:0.0:0.0	rs61738946	366;368;366;367	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	S	367;367;366;368;366	ENSP00000375616:R367S;ENSP00000270452:R367S;ENSP00000408995:R366S;ENSP00000375613:R368S;ENSP00000401962:R366S	ENSP00000270452:R367S	R	+	3	2	LILRB4	59870957	0.002000	0.14202	0.018000	0.16275	0.021000	0.10359	0.274000	0.18680	1.054000	0.40438	0.459000	0.35465	AGA		0.567	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
LPA	4018	mdanderson.org	37	6	160952770	160952770	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:160952770T>C	ENST00000316300.5	-	39	6158	c.6114A>G	c.(6112-6114)agA>agG	p.R2038R	LPA_ENST00000447678.1_Silent_p.R2038R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	4546	Kringle 18. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTAATTATTTCTCATCATTC	0.438																																						.											0													144.0	132.0	136.0					6																	160952770		2203	4300	6503	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.6114A>G	6.37:g.160952770T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				0.438	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
LRFN5	145581	mdanderson.org	37	14	42356084	42356084	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:42356084A>G	ENST00000298119.4	+	3	1445	c.256A>G	c.(256-258)Aca>Gca	p.T86A	LRFN5_ENST00000554120.1_Missense_Mutation_p.T86A|LRFN5_ENST00000554171.1_Missense_Mutation_p.T86A	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	86						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ATCCAGGAATACAATAAGTTT	0.363										HNSCC(30;0.082)																												.											0													54.0	54.0	54.0					14																	42356084		2203	4300	6503	SO:0001583	missense	145581			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.256A>G	14.37:g.42356084A>G	ENSP00000298119:p.Thr86Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU78|Q86XL2	Missense_Mutation	SNP	ENST00000298119.4	37	CCDS9678.1	.	.	.	.	.	.	.	.	.	.	A	16.14	3.037406	0.54896	.	.	ENSG00000165379	ENST00000298119;ENST00000554120;ENST00000554171	D;D;D	0.91740	-2.9;-2.9;-2.9	5.56	5.56	0.83823	.	0.000000	0.64402	D	0.000018	D	0.87168	0.6110	N	0.03608	-0.345	0.58432	D	0.999995	B;P	0.47302	0.225;0.893	B;P	0.53689	0.169;0.732	D	0.87967	0.2734	10	0.33141	T	0.24	.	13.6661	0.62396	1.0:0.0:0.0:0.0	.	86;86	G3V364;Q96NI6	.;LRFN5_HUMAN	A	86	ENSP00000298119:T86A;ENSP00000451897:T86A;ENSP00000451067:T86A	ENSP00000298119:T86A	T	+	1	0	LRFN5	41425834	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.098000	0.63641	0.528000	0.53228	ACA		0.363	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276786.1	NM_152447	
MAB21L1	4081	mdanderson.org	37	13	36050525	36050525	+	5'UTR	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:36050525T>C	ENST00000379919.4	-	0	307				NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)						anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GCCCAGCCGTTCTTAAAGTGA	0.522																																						.											0																																										SO:0001623	5_prime_UTR_variant	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.-250A>G	13.37:g.36050525T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6I9T5	RNA	SNP	ENST00000379919.4	37	CCDS9353.1																																																																																				0.522	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584	
MADCAM1	8174	mdanderson.org	37	19	501767	501767	+	Missense_Mutation	SNP	C	C	T	rs78245161		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:501767C>T	ENST00000215637.3	+	4	812	c.766C>T	c.(766-768)Cct>Tct	p.P256S	MADCAM1_ENST00000346144.4_Intron|AC005775.2_ENST00000592413.1_RNA|MADCAM1_ENST00000587541.1_Missense_Mutation_p.P37S|MADCAM1_ENST00000382683.4_Intron	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	256	5.5 X 8 AA tandem repeats of [PS]-P-D-T- T-S-[QP]-E.|Mucin-like.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCAGGAGCCTCCCGACAC	0.726																																						.											0													31.0	35.0	33.0					19																	501767		2194	4286	6480	SO:0001583	missense	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.766C>T	19.37:g.501767C>T	ENSP00000215637:p.Pro256Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Missense_Mutation	SNP	ENST00000215637.3	37	CCDS12028.1	.	.	.	.	.	.	.	.	.	.	c	5.207	0.223693	0.09863	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637	T	0.09538	2.97	2.86	2.86	0.33363	.	.	.	.	.	T	0.06188	0.0160	N	0.12182	0.205	0.54753	D	0.999986	D	0.63046	0.992	P	0.45577	0.486	T	0.38045	-0.9679	9	0.08837	T	0.75	.	9.9622	0.41704	0.0:1.0:0.0:0.0	.	256	Q13477	MADCA_HUMAN	S	280;272;264;256	ENSP00000215637:P256S	ENSP00000215637:P256S	P	+	1	0	MADCAM1	452767	0.000000	0.05858	0.008000	0.14137	0.003000	0.03518	-0.228000	0.09114	1.548000	0.49413	0.638000	0.83543	CCT		0.726	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451884.1	NM_130760	
MAGEC1	9947	mdanderson.org	37	X	140993912	140993912	+	Missense_Mutation	SNP	C	C	T	rs12558365	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:140993912C>T	ENST00000285879.4	+	4	1008	c.722C>T	c.(721-723)tCc>tTc	p.S241F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	241										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTCCTCCTCCTCCACT	0.483										HNSCC(15;0.026)																												.											0													76.0	66.0	69.0					X																	140993912		2192	4219	6411	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.722C>T	X.37:g.140993912C>T	ENSP00000285879:p.Ser241Phe	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	318	0.19168173598553345	100	0.21008403361344538	65	0.19345238095238096	62	0.11272727272727273	94	0.12668463611859837	t	0.551	-0.849407	0.02651	.	.	ENSG00000155495	ENST00000285879;ENST00000370511;ENST00000370510	T;T	0.13420	4.3;2.59	.	.	.	.	.	.	.	.	T	0.00012	0.0000	N	0.08118	0	0.09310	P	0.99999999595708	B	0.06786	0.001	B	0.01281	0.0	T	0.45011	-0.9290	7	0.08179	T	0.78	.	2.6694	0.05063	0.0:0.5025:0.0:0.4974	.	241	O60732	MAGC1_HUMAN	F	241;43;42	ENSP00000285879:S241F;ENSP00000359542:S43F	ENSP00000285879:S241F	S	+	2	0	MAGEC1	140821578	0.000000	0.05858	0.116000	0.21606	0.116000	0.19942	-2.548000	0.00930	0.054000	0.16065	0.054000	0.15206	TCC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MCF2	4168	mdanderson.org	37	X	138695406	138695406	+	Intron	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:138695406A>G	ENST00000370576.4	-	10	1573				MCF2_ENST00000536274.1_Intron|MCF2_ENST00000370573.4_Intron|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000338585.6_Silent_p.S460S|MCF2_ENST00000519895.1_Silent_p.S520S|MCF2_ENST00000483690.1_5'UTR	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTTGAAAGAAAGAGTATCCAA	0.308																																						.											0																																										SO:0001627	intron_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1363+1633T>C	X.37:g.138695406A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	CCDS14667.1																																																																																				0.308	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369	
MAGEC1	9947	mdanderson.org	37	X	140994381	140994381	+	Missense_Mutation	SNP	C	C	G	rs76145360		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:140994381C>G	ENST00000285879.4	+	4	1477	c.1191C>G	c.(1189-1191)caC>caG	p.H397Q	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	397								p.H397Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGAACTCACAGTACTTTTG	0.483										HNSCC(15;0.026)																												.											1	Substitution - Missense(1)	pancreas(1)											109.0	121.0	117.0					X																	140994381		2203	4296	6499	SO:0001583	missense	9947			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1191C>G	X.37:g.140994381C>G	ENSP00000285879:p.His397Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.420945	0.00188	.	.	ENSG00000155495	ENST00000285879	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44143	-0.9347	8	0.09590	T	0.72	.	2.1541	0.03808	0.2516:0.2493:0.0:0.4992	.	397	O60732	MAGC1_HUMAN	Q	397	ENSP00000285879:H397Q	ENSP00000285879:H397Q	H	+	3	2	MAGEC1	140822047	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-4.426000	0.00236	-3.737000	0.00113	-3.811000	0.00019	CAC		0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462	
MICALL2	79778	mdanderson.org	37	7	1498910	1498910	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:1498910T>C	ENST00000297508.7	-	1	228	c.53A>G	c.(52-54)tAc>tGc	p.Y18C	MICALL2_ENST00000405088.4_Missense_Mutation_p.Y18C|AC102953.4_ENST00000445345.1_RNA	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	18	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.|Forms an intramolecular interaction with the C-terminal coiled coil domain keeping the protein in a closed conformation. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CACGTCGCGGTAGCCCTCGCA	0.692																																						.											0													62.0	54.0	57.0					7																	1498910		2198	4300	6498	SO:0001583	missense	79778			BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.53A>G	7.37:g.1498910T>C	ENSP00000297508:p.Tyr18Cys	Somatic		WXS	Illumina HiSeq	Phase_I	D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.712639	0.89112	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;D	0.95377	0.47;-3.69	3.76	3.76	0.43208	Calponin homology domain (5);	.	.	.	.	D	0.98651	0.9548	H	0.99357	4.53	0.36009	D	0.837893	D	0.89917	1.0	D	0.97110	1.0	D	0.99947	1.1482	9	0.87932	D	0	.	12.1034	0.53798	0.0:0.0:0.0:1.0	.	18	Q8IY33	MILK2_HUMAN	C	18	ENSP00000385928:Y18C;ENSP00000297508:Y18C	ENSP00000297508:Y18C	Y	-	2	0	MICALL2	1465436	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	5.802000	0.69122	1.339000	0.45563	0.260000	0.18958	TAC		0.692	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924	
ANKRD30BL	554226	mdanderson.org	37	2	133014612	133014612	+	Intron	SNP	A	A	C	rs199913868|rs74853538	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:133014612A>C	ENST00000470729.1	-	1	441				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						GGAGGGAGGTACCGCAGCGAC	0.716																																						.											0													27.0	46.0	40.0					2																	133014612		1553	3577	5130	SO:0001627	intron_variant	100313824					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.984+489T>G	2.37:g.133014612A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B8ZZL7	RNA	SNP	ENST00000470729.1	37																																																																																					0.716	ANKRD30BL-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000331354.1	NR_027019	
MUC16	94025	mdanderson.org	37	19	9002597	9002597	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9002597C>T	ENST00000397910.4	-	51	40422	c.40219G>A	c.(40219-40221)Gac>Aac	p.D13407N	MUC16_ENST00000380951.5_Missense_Mutation_p.D48N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13409	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CGCTCTCTGTCCAGTCCAGGG	0.592																																						.											0																																										SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40219G>A	19.37:g.9002597C>T	ENSP00000381008:p.Asp13407Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	11.51|11.51	1.659878|1.659878	0.29515|0.29515	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.45668|.	0.89;0.89|.	2.75|2.75	-0.839|-0.839	0.10759|0.10759	SEA (1);|.	.|.	.|.	.|.	.|.	T|.	0.43344|.	0.1243|.	L|L	0.52759|0.52759	1.655|1.655	.|.	.|.	.|.	B;D|.	0.60575|.	0.007;0.988|.	B;D|.	0.75020|.	0.014;0.985|.	T|.	0.51236|.	-0.8731|.	8|.	0.54805|.	T|.	0.06|.	-11.8857|-11.8857	6.8102|6.8102	0.23801|0.23801	0.0:0.8029:0.0:0.1971|0.0:0.8029:0.0:0.1971	.|.	21052;13407|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	N|X	13407;48|246	ENSP00000381008:D13407N;ENSP00000370338:D48N|.	ENSP00000370338:D48N|.	D|W	-|-	1|3	0|0	MUC16|MUC16	8863597|8863597	0.045000|0.045000	0.20229|0.20229	0.003000|0.003000	0.11579|0.11579	0.000000|0.000000	0.00434|0.00434	1.258000|1.258000	0.32944|0.32944	-0.029000|-0.029000	0.13827|0.13827	-3.921000|-3.921000	0.00016|0.00016	GAC|TGG		0.592	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	mdanderson.org	37	19	9012816	9012816	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9012816G>A	ENST00000397910.4	-	34	38831	c.38628C>T	c.(38626-38628)ggC>ggT	p.G12876G		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12878	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTTCCTGGAGCCTGGGTGAT	0.597																																						.											0													205.0	175.0	185.0					19																	9012816		2019	4181	6200	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38628C>T	19.37:g.9012816G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	mdanderson.org	37	19	9012819	9012819	+	Silent	SNP	T	T	A	rs4992694	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:9012819T>A	ENST00000397910.4	-	34	38828	c.38625A>T	c.(38623-38625)ccA>ccT	p.P12875P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12877	SEA 6. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCTGGAGCCTGGGTGATGCA	0.597																																						.											0																																										SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38625A>T	19.37:g.9012819T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC2	4583	mdanderson.org	37	11	1092618	1092618	+	Silent	SNP	T	T	A	rs201595190|rs201608750		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1092618T>A	ENST00000441003.2	+	30	4464	c.4437T>A	c.(4435-4437)ccT>ccA	p.P1479P	MUC2_ENST00000333592.6_5'Flank|MUC2_ENST00000359061.5_Silent_p.P1480P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4214	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)	ctcccagccctccaaccacca	0.637																																						.											0													143.0	258.0	218.0					11																	1092618		1502	2810	4312	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.4437T>A	11.37:g.1092618T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.637	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC2	4583	mdanderson.org	37	11	1093344	1093344	+	Silent	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1093344G>T	ENST00000441003.2	+	30	5190	c.5163G>T	c.(5161-5163)ccG>ccT	p.P1721P	MUC2_ENST00000333592.6_Silent_p.P9P|MUC2_ENST00000359061.5_Silent_p.P1688P|MUC2_ENST00000361558.6_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	0	Approximate repeats.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.P1688P(1)|p.P1721P(1)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ccccaaccccgacacccatct	0.642																																						.											2	Substitution - coding silent(2)	lung(2)											231.0	269.0	256.0					11																	1093344		1975	3757	5732	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.5163G>T	11.37:g.1093344G>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q14878	Silent	SNP	ENST00000441003.2	37																																																																																					0.642	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457	
MUC4	4585	mdanderson.org	37	3	195506655	195506655	+	Silent	SNP	T	T	A	rs200897653	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195506655T>A	ENST00000463781.3	-	2	12255	c.11796A>T	c.(11794-11796)ggA>ggT	p.G3932G	MUC4_ENST00000475231.1_Silent_p.G3932G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCATGTCCTGTGGATG	0.587													.|||	64	0.0127796	0.0182	0.0043	5008	,	,		11164	0.0159		0.0099	False		,,,				2504	0.0112					.											0													22.0	21.0	21.0					3																	195506655		498	1107	1605	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11796A>T	3.37:g.195506655T>A		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506746	195506746	+	Missense_Mutation	SNP	G	G	A	rs192522651		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195506746G>A	ENST00000463781.3	-	2	12164	c.11705C>T	c.(11704-11706)gCc>gTc	p.A3902V	MUC4_ENST00000475231.1_Missense_Mutation_p.A3902V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.A3902V(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGGGTGGCGTGACGTGT	0.597																																						.											2	Substitution - Missense(2)	kidney(2)											10.0	9.0	9.0					3																	195506746		528	1056	1584	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11705C>T	3.37:g.195506746G>A	ENSP00000417498:p.Ala3902Val	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	108	0.04945054945054945	8	0.016260162601626018	19	0.052486187845303865	56	0.0979020979020979	25	0.032981530343007916	g	7.407	0.633932	0.14322	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33216	1.45;1.42	.	.	.	.	.	.	.	.	T	0.00384	0.0012	N	0.19112	0.55	0.09310	N	1	B	0.22909	0.077	B	0.09377	0.004	T	0.24048	-1.0171	7	.	.	.	.	2.8356	0.05513	3.0E-4:2.0E-4:0.5012:0.4983	.	3774	E7ESK3	.	V	3902	ENSP00000417498:A3902V;ENSP00000420243:A3902V	.	A	-	2	0	MUC4	196991525	0.001000	0.12720	0.003000	0.11579	0.003000	0.03518	0.241000	0.18065	0.064000	0.16427	0.064000	0.15345	GCC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506826	195506826	+	Silent	SNP	A	A	G	rs369514019	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195506826A>G	ENST00000463781.3	-	2	12084	c.11625T>C	c.(11623-11625)gtT>gtC	p.V3875V	MUC4_ENST00000475231.1_Silent_p.V3875V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAAGGCCGGTAACAGGAAGAG	0.587													.|||	118	0.0235623	0.031	0.0072	5008	,	,		8709	0.0099		0.0169	False		,,,				2504	0.046					.											0													15.0	13.0	13.0					3																	195506826		574	1543	2117	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11625T>C	3.37:g.195506826A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506946	195506946	+	Silent	SNP	T	T	G	rs375329116	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195506946T>G	ENST00000463781.3	-	2	11964	c.11505A>C	c.(11503-11505)acA>acC	p.T3835T	MUC4_ENST00000475231.1_Silent_p.T3835T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGCGTGACCTGTGGATGCTG	0.587													.|||	118	0.0235623	0.0885	0.0	5008	,	,		9151	0.0		0.0	False		,,,				2504	0.001					.											0													7.0	7.0	7.0					3																	195506946		393	1152	1545	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11505A>C	3.37:g.195506946T>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195506955	195506955	+	Silent	SNP	T	T	C	rs201420433		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195506955T>C	ENST00000463781.3	-	2	11955	c.11496A>G	c.(11494-11496)tcA>tcG	p.S3832S	MUC4_ENST00000475231.1_Silent_p.S3832S|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGTGGATGCTGAGGAAGCGT	0.582																																						.											0													6.0	6.0	6.0					3																	195506955		399	1159	1558	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11496A>G	3.37:g.195506955T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195509127	195509127	+	Silent	SNP	A	A	G	rs71637183|rs200879287		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195509127A>G	ENST00000463781.3	-	2	9783	c.9324T>C	c.(9322-9324)acT>acC	p.T3108T	MUC4_ENST00000475231.1_Silent_p.T3108T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T3108T(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGGGCTAGTGACAGGAA	0.587																																						.											1	Substitution - coding silent(1)	kidney(1)											19.0	11.0	13.0					3																	195509127		669	1553	2222	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9324T>C	3.37:g.195509127A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195510710	195510710	+	Missense_Mutation	SNP	T	T	C	rs75657645	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195510710T>C	ENST00000463781.3	-	2	8200	c.7741A>G	c.(7741-7743)Agc>Ggc	p.S2581G	MUC4_ENST00000475231.1_Missense_Mutation_p.S2581G|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGTGCTGGTGACAGGA	0.602																																						.											0													28.0	23.0	25.0					3																	195510710		681	1579	2260	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7741A>G	3.37:g.195510710T>C	ENSP00000417498:p.Ser2581Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	4.536	0.099452	0.08681	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.33438	1.41;1.47	1.19	1.19	0.21007	.	.	.	.	.	T	0.13157	0.0319	N	0.19112	0.55	0.18873	N	0.999986	P	0.42584	0.784	B	0.28638	0.092	T	0.12760	-1.0535	8	.	.	.	.	6.326	0.21244	0.0:0.0:0.0:1.0	.	2581	E7ESK3	.	G	2581	ENSP00000417498:S2581G;ENSP00000420243:S2581G	.	S	-	1	0	MUC4	196995105	0.001000	0.12720	0.101000	0.21167	0.125000	0.20455	0.035000	0.13797	0.553000	0.29044	0.219000	0.17774	AGC		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	mdanderson.org	37	3	195515290	195515290	+	Missense_Mutation	SNP	C	C	G	rs78535324		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:195515290C>G	ENST00000463781.3	-	2	3620	c.3161G>C	c.(3160-3162)aGc>aCc	p.S1054T	MUC4_ENST00000475231.1_Missense_Mutation_p.S1054T|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	484					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S1054T(4)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AAGAGGGGTGCTGTCACCTGT	0.572																																						.											4	Substitution - Missense(4)	NS(2)|kidney(1)|endometrium(1)											16.0	11.0	13.0					3																	195515290		689	1583	2272	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3161G>C	3.37:g.195515290C>G	ENSP00000417498:p.Ser1054Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	1.980	-0.434268	0.04669	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30714	1.53;1.52	1.0	-2.01	0.07410	.	.	.	.	.	T	0.12433	0.0302	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.08055	0.003	T	0.20706	-1.0267	8	.	.	.	.	5.9202	0.19078	0.1903:0.2487:0.561:0.0	.	1054	E7ESK3	.	T	1054	ENSP00000417498:S1054T;ENSP00000420243:S1054T	.	S	-	2	0	MUC4	196999685	.	.	0.001000	0.08648	0.010000	0.07245	.	.	-2.658000	0.00420	-2.332000	0.00249	AGC		0.572	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC6	4588	mdanderson.org	37	11	1016243	1016243	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016243A>G	ENST00000421673.2	-	31	6608	c.6558T>C	c.(6556-6558)caT>caC	p.H2186H		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2186	Ser-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGTCGTGGGATGAGTGGACA	0.547																																						.											0													34.0	37.0	36.0					11																	1016243		2144	4233	6377	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6558T>C	11.37:g.1016243A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1016604	1016605	+	Missense_Mutation	DNP	AC	AC	GG	rs147913342|rs148590913		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	AC	AC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016604_1016605AC>GG	ENST00000421673.2	-	31	6246_6247	c.6196_6197GT>CC	c.(6196-6198)GTg>CCg	p.V2066P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2066	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGGTGGTCACTGTCATTGGT	0.579																																						.											0																																										SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6196_6197delinsGG	11.37:g.1016604_1016605delinsGG	ENSP00000406861:p.Val2066Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	DNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.579	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1016770	1016770	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1016770G>A	ENST00000421673.2	-	31	6081	c.6031C>T	c.(6031-6033)Cct>Tct	p.P2011S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2011	Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)	p.P2011S(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTGGAGAAAGGTGGAACGTGA	0.532																																						.											1	Substitution - Missense(1)	skin(1)																																								SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.6031C>T	11.37:g.1016770G>A	ENSP00000406861:p.Pro2011Ser	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.638370	0.00799	.	.	ENSG00000184956	ENST00000421673	T	0.17370	2.28	2.4	-4.79	0.03200	.	.	.	.	.	T	0.06735	0.0172	N	0.21194	0.64	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39014	-0.9634	9	0.07990	T	0.79	.	1.1636	0.01810	0.3722:0.1007:0.2914:0.2356	.	2011	Q6W4X9	MUC6_HUMAN	S	2011	ENSP00000406861:P2011S	ENSP00000406861:P2011S	P	-	1	0	MUC6	1006770	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.781000	0.00773	-2.945000	0.00295	-0.671000	0.03813	CCT		0.532	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1017088	1017088	+	Missense_Mutation	SNP	A	A	C	rs74990443		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1017088A>C	ENST00000421673.2	-	31	5763	c.5713T>G	c.(5713-5715)Tcc>Gcc	p.S1905A		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1905	Approximate repeats.|Thr-rich.			SP -> AA (in Ref. 5; AAA35866). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGCTTGGGGATTGGCTGGTC	0.547																																						.											0													644.0	677.0	666.0					11																	1017088		2200	4281	6481	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5713T>G	11.37:g.1017088A>C	ENSP00000406861:p.Ser1905Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	a	0.028	-1.355862	0.01245	.	.	ENSG00000184956	ENST00000421673	T	0.18174	2.23	3.01	-6.01	0.02199	.	.	.	.	.	T	0.02533	0.0077	N	0.00268	-1.735	0.09310	N	1	B	0.22851	0.076	B	0.30251	0.113	T	0.22487	-1.0215	9	0.07644	T	0.81	.	1.0607	0.01600	0.4226:0.139:0.111:0.3274	.	1905	Q6W4X9	MUC6_HUMAN	A	1905	ENSP00000406861:S1905A	ENSP00000406861:S1905A	S	-	1	0	MUC6	1007088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.715000	0.00385	-2.137000	0.00809	-0.672000	0.03802	TCC		0.547	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1017226	1017226	+	Missense_Mutation	SNP	T	T	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1017226T>G	ENST00000421673.2	-	31	5625	c.5575A>C	c.(5575-5577)Acc>Ccc	p.T1859P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1859	Approximate repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGTGTGGGTAGGGATGATG	0.562																																						.											0													303.0	303.0	303.0					11																	1017226		2191	4282	6473	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.5575A>C	11.37:g.1017226T>G	ENSP00000406861:p.Thr1859Pro	Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	T	12.56	1.975777	0.34848	.	.	ENSG00000184956	ENST00000421673	T	0.28255	1.62	2.55	2.55	0.30701	.	.	.	.	.	T	0.49253	0.1546	M	0.69358	2.11	0.23602	N	0.997314	D	0.89917	1.0	D	0.85130	0.997	T	0.18681	-1.0329	9	0.41790	T	0.15	.	8.9081	0.35537	0.0:0.0:0.0:1.0	.	1859	Q6W4X9	MUC6_HUMAN	P	1859	ENSP00000406861:T1859P	ENSP00000406861:T1859P	T	-	1	0	MUC6	1007226	0.044000	0.20184	0.026000	0.17262	0.023000	0.10783	-1.754000	0.01816	1.436000	0.47453	0.260000	0.18958	ACC		0.562	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	mdanderson.org	37	11	1018340	1018340	+	Silent	SNP	T	T	C	rs77556339		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:1018340T>C	ENST00000421673.2	-	31	4511	c.4461A>G	c.(4459-4461)ccA>ccG	p.P1487P		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1487	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGAGCGTTGTTGGTGGAGGAA	0.572																																						.											0													270.0	276.0	274.0					11																	1018340		2185	4270	6455	SO:0001819	synonymous_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4461A>G	11.37:g.1018340T>C		Somatic		WXS	Illumina HiSeq	Phase_I	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Silent	SNP	ENST00000421673.2	37	CCDS44513.1																																																																																				0.572	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MYBPC3	4607	mdanderson.org	37	11	47364266	47364266	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:47364266T>C	ENST00000545968.1	-	17	1541	c.1487A>G	c.(1486-1488)gAg>gGg	p.E496G	MYBPC3_ENST00000399249.2_Missense_Mutation_p.E496G|MYBPC3_ENST00000256993.4_Missense_Mutation_p.E495G	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	496	Ig-like C2-type 3.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGGTCTCCTCCCGGGTCAG	0.627																																						.											0													157.0	158.0	158.0					11																	47364266		2142	4252	6394	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.1487A>G	11.37:g.47364266T>C	ENSP00000442795:p.Glu496Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	ENST00000545968.1	37	CCDS53621.1	.	.	.	.	.	.	.	.	.	.	T	13.76	2.333648	0.41297	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.67345	-0.26;-0.26;-0.26	4.63	4.63	0.57726	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45054	0.1323	N	0.05199	-0.095	0.49213	D	0.999763	B	0.18310	0.027	B	0.26969	0.075	T	0.36841	-0.9731	9	0.11485	T	0.65	.	14.1729	0.65522	0.0:0.0:0.0:1.0	.	495	Q14896	MYPC3_HUMAN	G	496;496;495	ENSP00000442795:E496G;ENSP00000382193:E496G;ENSP00000256993:E495G	ENSP00000256993:E495G	E	-	2	0	MYBPC3	47320842	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.440000	0.80464	1.938000	0.56188	0.379000	0.24179	GAG		0.627	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392271.3		
NASP	4678	mdanderson.org	37	1	46073372	46073372	+	Missense_Mutation	SNP	G	G	C	rs202027114		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:46073372G>C	ENST00000350030.3	+	6	876	c.789G>C	c.(787-789)caG>caC	p.Q263H	NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.Q265H|NASP_ENST00000537798.1_Missense_Mutation_p.Q199H|NASP_ENST00000372052.4_Intron	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	263	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AGGAGAAGCAGGGAGAGGTAA	0.478																																						.											0													44.0	47.0	46.0					1																	46073372		2203	4300	6503	SO:0001583	missense	4678			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.789G>C	1.37:g.46073372G>C	ENSP00000255120:p.Gln263His	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	CCDS524.1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615555	0.28801	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94650	-3.48;-3.48;-3.48;-3.48	5.37	5.37	0.77165	.	0.433338	0.26122	N	0.026214	D	0.92113	0.7500	N	0.17082	0.46	0.32940	D	0.518256	D;D;D;D;D	0.69078	0.994;0.996;0.997;0.99;0.994	P;D;D;P;P	0.64321	0.861;0.924;0.924;0.73;0.861	D	0.90293	0.4324	9	.	.	.	-5.1147	6.1073	0.20081	0.113:0.0:0.6989:0.188	.	199;263;163;263;265	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	H	199;265;163;263;226	ENSP00000438871:Q199H;ENSP00000384529:Q265H;ENSP00000255120:Q263H;ENSP00000436924:Q226H	.	Q	+	3	2	NASP	45845959	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.932000	0.48940	2.902000	0.99343	0.650000	0.86243	CAG		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482	
NBEAL2	23218	mdanderson.org	37	3	47042507	47042507	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:47042507A>G	ENST00000450053.3	+	28	4501	c.4322A>G	c.(4321-4323)gAg>gGg	p.E1441G	NBEAL2_ENST00000292309.5_Missense_Mutation_p.E1257G|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1441					blood coagulation (GO:0007596)|megakaryocyte development (GO:0035855)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTGAGGAAGAGTTGTGCAAT	0.627																																						.											0													76.0	89.0	85.0					3																	47042507		2118	4226	6344	SO:0001583	missense	23218			AB011112	CCDS46817.1	3p21.31	2014-09-17			ENSG00000160796	ENSG00000160796		"""WD repeat domain containing"""	31928	protein-coding gene	gene with protein product		614169					Standard	NM_015175		Approved	KIAA0540	uc003cqp.3	Q6ZNJ1	OTTHUMG00000156497	ENST00000450053.3:c.4322A>G	3.37:g.47042507A>G	ENSP00000415034:p.Glu1441Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O60288|Q6P994|Q6UX91|Q8NAC9	Missense_Mutation	SNP	ENST00000450053.3	37	CCDS46817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	25.7|25.7	4.660380|4.660380	0.88154|0.88154	.|.	.|.	ENSG00000160796|ENSG00000160796	ENST00000292309;ENST00000450053|ENST00000416683	T;T|.	0.60672|.	0.22;0.17|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72415|0.72415	0.3457|0.3457	M|M	0.69823|0.69823	2.125|2.125	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.72593|0.72593	-0.4246|-0.4246	10|5	0.87932|.	D|.	0|.	.|.	13.502|13.502	0.61462|0.61462	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1441|.	Q6ZNJ1|.	NBEL2_HUMAN|.	G|G	1257;1441|729	ENSP00000292309:E1257G;ENSP00000415034:E1441G|.	ENSP00000292309:E1257G|.	E|S	+|+	2|1	0|0	NBEAL2|NBEAL2	47017511|47017511	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.980000|0.980000	0.70556|0.70556	9.064000|9.064000	0.93933|0.93933	2.288000|2.288000	0.76882|0.76882	0.533000|0.533000	0.62120|0.62120	GAG|AGT		0.627	NBEAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344363.3	XM_291064	
NBPF10	100132406	mdanderson.org	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	99						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473																																						.											1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.295G>T	1.37:g.145296373G>T	ENSP00000345684:p.Val99Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249076	0.22880	.	.	ENSG00000163386	ENST00000369339;ENST00000448873;ENST00000342960	T	0.03889	3.77	1.15	-0.158	0.13383	.	.	.	.	.	T	0.03220	0.0094	M	0.72479	2.2	0.09310	N	1	.	.	.	.	.	.	T	0.38757	-0.9646	7	0.87932	D	0	.	3.0726	0.06236	0.7069:0.0:0.2931:0.0	rs3969711;rs4996270	.	.	.	F	99;24;99	ENSP00000345684:V99F	ENSP00000345684:V99F	V	+	1	0	NBPF10	144007730	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.026000	0.13895	0.121000	0.15741	GTT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
NDUFS1	4719	mdanderson.org	37	2	206994915	206994915	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:206994915T>C	ENST00000233190.6	-	15	1871	c.1605A>G	c.(1603-1605)gaA>gaG	p.E535E	NDUFS1_ENST00000449699.1_Silent_p.E535E|NDUFS1_ENST00000457011.1_Silent_p.E419E|NDUFS1_ENST00000432169.1_Silent_p.E424E|NDUFS1_ENST00000423725.1_Silent_p.E478E|NDUFS1_ENST00000440274.1_Silent_p.E499E|NDUFS1_ENST00000455934.2_Silent_p.E549E	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	535					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCGAATTGCTTCCACCCCAG	0.433																																						.											0													82.0	77.0	78.0					2																	206994915		2203	4300	6503	SO:0001819	synonymous_variant	4719				CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1605A>G	2.37:g.206994915T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Silent	SNP	ENST00000233190.6	37	CCDS2366.1																																																																																				0.433	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006	
NIT2	56954	mdanderson.org	37	3	100073671	100073671	+	Splice_Site	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:100073671G>A	ENST00000394140.4	+	9	830	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2	247	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				asparagine metabolic process (GO:0006528)|glutamine metabolic process (GO:0006541)|oxaloacetate metabolic process (GO:0006107)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	omega-amidase activity (GO:0050152)			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						TTCAGACATAGGTAAGATTTT	0.483																																						.											0													160.0	151.0	154.0					3																	100073671		2203	4300	6503	SO:0001630	splice_region_variant	56954			AF284574	CCDS33806.1	3q12.3	2004-07-12			ENSG00000114021	ENSG00000114021			29878	protein-coding gene	gene with protein product						10959838	Standard	NM_020202		Approved		uc003dtv.3	Q9NQR4	OTTHUMG00000159066	ENST00000394140.4:c.739+1G>A	3.37:g.100073671G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R9A3|D3DN47|Q8WUF0	Missense_Mutation	SNP	ENST00000394140.4	37	CCDS33806.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102526	0.76983	.	.	ENSG00000114021	ENST00000394140	T	0.76316	-1.01	5.63	5.63	0.86233	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (3);	0.000000	0.85682	D	0.000000	T	0.74612	0.3739	L	0.58810	1.83	0.80722	D	1	P	0.39903	0.694	B	0.34452	0.183	T	0.75196	-0.3403	10	0.38643	T	0.18	-17.7733	19.2824	0.94057	0.0:0.0:1.0:0.0	.	247	Q9NQR4	NIT2_HUMAN	N	247	ENSP00000377696:D247N	ENSP00000377696:D247N	D	+	1	0	NIT2	101556361	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	8.499000	0.90494	2.664000	0.90586	0.591000	0.81541	GAC		0.483	NIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353142.2	NM_020202	Missense_Mutation
NLGN4X	57502	mdanderson.org	37	X	5810997	5810997	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:5810997A>G	ENST00000381095.3	-	6	2939	c.2312T>C	c.(2311-2313)aTc>aCc	p.I771T	NLGN4X_ENST00000381092.1_Missense_Mutation_p.I771T|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I771T|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I771T|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I791T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	771					adult behavior (GO:0030534)|brainstem development (GO:0003360)|cell-cell junction organization (GO:0045216)|cerebellum development (GO:0021549)|learning (GO:0007612)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|organ growth (GO:0035265)|presynaptic membrane assembly (GO:0097105)|social behavior (GO:0035176)|synapse organization (GO:0050808)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|chloride ion binding (GO:0031404)|neurexin family protein binding (GO:0042043)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						CATAAGTGGGATGTCATCTGG	0.552																																						.											0													289.0	236.0	254.0					X																	5810997		2203	4300	6503	SO:0001583	missense	57502			AB033086	CCDS14126.1	Xp22.33	2008-02-05	2004-05-21	2004-05-26	ENSG00000146938	ENSG00000146938			14287	protein-coding gene	gene with protein product		300427	"""neuroligin 4"""	NLGN4		10574462	Standard	XM_005274564		Approved	KIAA1260, NLGN, HLNX	uc004crr.3	Q8N0W4	OTTHUMG00000021093	ENST00000381095.3:c.2312T>C	X.37:g.5810997A>G	ENSP00000370485:p.Ile771Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6UX10|Q9ULG0	Missense_Mutation	SNP	ENST00000381095.3	37	CCDS14126.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.373663	0.24857	.	.	ENSG00000146938	ENST00000381095;ENST00000381093;ENST00000275857;ENST00000381092;ENST00000538097	T;T;T;T;T	0.16457	2.34;2.34;2.34;2.34;2.34	3.82	3.82	0.43975	.	0.737822	0.11161	N	0.593064	T	0.24122	0.0584	L	0.59436	1.845	0.50039	D	0.999846	P;P;P	0.44429	0.566;0.566;0.835	B;B;P	0.44673	0.196;0.206;0.457	T	0.02676	-1.1125	10	0.66056	D	0.02	.	11.2516	0.49028	1.0:0.0:0.0:0.0	.	828;771;791	A6NMU8;Q8N0W4;Q8N0W4-2	.;NLGNX_HUMAN;.	T	771;791;771;771;771	ENSP00000370485:I771T;ENSP00000370483:I791T;ENSP00000275857:I771T;ENSP00000370482:I771T;ENSP00000439203:I771T	ENSP00000275857:I771T	I	-	2	0	NLGN4X	5820997	1.000000	0.71417	0.637000	0.29366	0.043000	0.13939	7.992000	0.88273	1.222000	0.43521	0.417000	0.27973	ATC		0.552	NLGN4X-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055673.1	NM_020742	
NMD3	51068	mdanderson.org	37	3	160945096	160945096	+	Silent	SNP	T	T	C	rs138466882		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:160945096T>C	ENST00000460469.1	+	3	696	c.241T>C	c.(241-243)Ttg>Ctg	p.L81L	NMD3_ENST00000351193.2_Silent_p.L81L|NMD3_ENST00000472947.1_Silent_p.L81L|NMD3_ENST00000478160.1_3'UTR			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	81					protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			ACTTCTTGCTTTGTGCTTGAA	0.353																																						.											0								T		1,4405	2.1+/-5.4	0,1,2202	121.0	117.0	118.0		241	5.6	1.0	3	dbSNP_134	118	0,8600		0,0,4300	no	coding-synonymous	NMD3	NM_015938.3		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		81/504	160945096	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.241T>C	3.37:g.160945096T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D3DNM7|Q9Y2Z6	Silent	SNP	ENST00000460469.1	37	CCDS3194.1																																																																																				0.353	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353114.1	NM_015938	
NRIP1	8204	mdanderson.org	37	21	16338989	16338989	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:16338989T>C	ENST00000400202.1	-	3	2237	c.1525A>G	c.(1525-1527)Aat>Gat	p.N509D	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Missense_Mutation_p.N509D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N509D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	509	Repression domain 2.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTTCTTCATTCTTATGGCCA	0.368																																						.											0													196.0	189.0	191.0					21																	16338989		2203	4300	6503	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1525A>G	21.37:g.16338989T>C	ENSP00000383063:p.Asn509Asp	Somatic		WXS	Illumina HiSeq	Phase_I	Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149415	0.37923	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.18810	2.19;2.19;2.19	5.68	4.49	0.54785	.	0.381500	0.28203	N	0.016205	T	0.13927	0.0337	L	0.34521	1.04	0.30218	N	0.797058	P	0.39480	0.675	B	0.39258	0.295	T	0.05115	-1.0905	10	0.15066	T	0.55	-1.9487	7.4965	0.27492	0.0:0.0713:0.1435:0.7852	.	509	P48552	NRIP1_HUMAN	D	509	ENSP00000383060:N509D;ENSP00000383063:N509D;ENSP00000327213:N509D	ENSP00000327213:N509D	N	-	1	0	NRIP1	15260860	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.773000	0.62331	2.170000	0.68504	0.528000	0.53228	AAT		0.368	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489	
OR10A2	341276	mdanderson.org	37	11	6891395	6891395	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6891395T>C	ENST00000307322.4	+	1	472	c.410T>C	c.(409-411)tTc>tCc	p.F137S		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCCTCCTGGTTCCCAGGCTTT	0.532																																						.											0													141.0	134.0	136.0					11																	6891395		2201	4296	6497	SO:0001583	missense	341276			BK004293	CCDS31415.1	11p15.4	2012-08-09		2004-03-10	ENSG00000170790	ENSG00000170790		"""GPCR / Class A : Olfactory receptors"""	8161	protein-coding gene	gene with protein product				OR10A2P			Standard	NM_001004460		Approved	OST363	uc001meu.1	Q9H208	OTTHUMG00000165739	ENST00000307322.4:c.410T>C	11.37:g.6891395T>C	ENSP00000303862:p.Phe137Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2RNL9|Q6IFG9	Missense_Mutation	SNP	ENST00000307322.4	37	CCDS31415.1	.	.	.	.	.	.	.	.	.	.	t	13.19	2.162079	0.38217	.	.	ENSG00000170790	ENST00000307322	T	0.37584	1.19	3.99	2.86	0.33363	GPCR, rhodopsin-like superfamily (1);	0.110904	0.41001	D	0.000966	T	0.23410	0.0566	N	0.12663	0.25	0.33175	D	0.548826	B	0.26809	0.16	B	0.37239	0.244	T	0.27123	-1.0083	10	0.48119	T	0.1	.	7.5596	0.27843	0.0:0.1055:0.0:0.8945	.	137	Q9H208	O10A2_HUMAN	S	137	ENSP00000303862:F137S	ENSP00000303862:F137S	F	+	2	0	OR10A2	6847971	0.020000	0.18652	0.999000	0.59377	0.789000	0.44602	1.461000	0.35255	0.705000	0.31890	0.529000	0.55759	TTC		0.532	OR10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385984.1	NM_001004460	
NXPE1	120400	mdanderson.org	37	11	114392857	114392857	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:114392857A>G	ENST00000424269.1	-	5	1476	c.1477T>C	c.(1477-1479)Ttc>Ctc	p.F493L	NXPE1_ENST00000536271.1_Missense_Mutation_p.F209L|NXPE1_ENST00000251921.2_Missense_Mutation_p.F351L			Q8N323	NXPE1_HUMAN	neurexophilin and PC-esterase domain family, member 1	493						extracellular region (GO:0005576)											TAACCATGGAAGTCTCCAAAC	0.418																																						.											0													190.0	184.0	186.0					11																	114392857		2201	4296	6497	SO:0001583	missense	120400			BC029049	CCDS8372.1	11q23.2	2012-06-14	2012-06-11	2012-06-11	ENSG00000095110	ENSG00000095110			28527	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member A"""	FAM55A		12477932	Standard	NM_152315		Approved	MGC34290	uc001ppa.3	Q8N323	OTTHUMG00000168284	ENST00000424269.1:c.1477T>C	11.37:g.114392857A>G	ENSP00000411690:p.Phe493Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B0YJ13	Missense_Mutation	SNP	ENST00000424269.1	37		.	.	.	.	.	.	.	.	.	.	A	22.9	4.351641	0.82132	.	.	ENSG00000095110	ENST00000536271;ENST00000251921;ENST00000424269	T;T;T	0.27104	1.69;1.69;1.69	4.64	3.49	0.39957	.	0.000000	0.64402	D	0.000001	T	0.53706	0.1813	M	0.89534	3.04	0.33601	D	0.602277	D	0.71674	0.998	D	0.70935	0.971	T	0.69702	-0.5074	10	0.56958	D	0.05	.	10.2768	0.43515	0.8519:0.0:0.0:0.1481	.	493	Q8N323	FA55A_HUMAN	L	209;351;493	ENSP00000445200:F209L;ENSP00000251921:F351L;ENSP00000411690:F493L	ENSP00000251921:F351L	F	-	1	0	FAM55A	113898067	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	1.386000	0.34419	0.854000	0.35336	0.528000	0.53228	TTC		0.418	NXPE1-201	KNOWN	basic	protein_coding	protein_coding		NM_152315	
OR2A2	442361	mdanderson.org	37	7	143806681	143806681	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:143806681A>G	ENST00000408979.2	+	1	75	c.6A>G	c.(4-6)gaA>gaG	p.E2E		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AGAGCATGGAAGGCAACCAGA	0.502																																						.											0													103.0	100.0	101.0					7																	143806681		2004	4187	6191	SO:0001819	synonymous_variant	442361				CCDS43671.1	7q35	2013-09-20		2004-03-10	ENSG00000221989	ENSG00000221989		"""GPCR / Class A : Olfactory receptors"""	8230	protein-coding gene	gene with protein product				OR2A2P, OR2A17P			Standard	NM_001005480		Approved	OST008	uc011ktz.2	Q6IF42	OTTHUMG00000158001	ENST00000408979.2:c.6A>G	7.37:g.143806681A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RN85|Q8NGT6	Silent	SNP	ENST00000408979.2	37	CCDS43671.1																																																																																				0.502	OR2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349978.1		
OR2AG2	338755	mdanderson.org	37	11	6789972	6789972	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6789972A>G	ENST00000338569.2	-	1	314	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAGATGTGAACAGGAGGTCC	0.557																																						.											0													139.0	127.0	131.0					11																	6789972		2201	4293	6494	SO:0001583	missense	338755			AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.217T>C	11.37:g.6789972A>G	ENSP00000342697:p.Phe73Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000338569.2	37	CCDS31413.1	.	.	.	.	.	.	.	.	.	.	A	6.014	0.370903	0.11409	.	.	ENSG00000188124	ENST00000338569	T	0.14022	2.54	4.15	1.83	0.25207	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000087	T	0.07413	0.0187	L	0.31420	0.93	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.42258	-0.9462	10	0.06625	T	0.88	.	7.0855	0.25255	0.8036:0.0:0.1964:0.0	.	73	A6NM03	O2AG2_HUMAN	L	73	ENSP00000342697:F73L	ENSP00000342697:F73L	F	-	1	0	OR2AG2	6746548	0.117000	0.22190	0.399000	0.26333	0.994000	0.84299	4.445000	0.60007	0.400000	0.25396	0.459000	0.35465	TTC		0.557	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490	
OR4N2	390429	mdanderson.org	37	14	20296208	20296208	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:20296208T>C	ENST00000315947.1	+	1	601	c.601T>C	c.(601-603)Ttc>Ctc	p.F201L	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGATGGTCTTCAACAGTGG	0.507																																						.											0													145.0	144.0	144.0					14																	20296208		2203	4300	6503	SO:0001583	missense	390429				CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.601T>C	14.37:g.20296208T>C	ENSP00000319601:p.Phe201Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IEY9|Q6IFA2	Missense_Mutation	SNP	ENST00000315947.1	37	CCDS32022.1	.	.	.	.	.	.	.	.	.	.	.	13.47	2.246339	0.39697	.	.	ENSG00000176294	ENST00000315947	T	0.00123	8.7	4.52	3.28	0.37604	GPCR, rhodopsin-like superfamily (1);	0.125811	0.36703	N	0.002455	T	0.00073	0.0002	N	0.04148	-0.265	0.09310	N	1	B	0.10296	0.003	B	0.15052	0.012	T	0.39820	-0.9595	10	0.66056	D	0.02	-25.8079	3.5346	0.07789	0.1948:0.1049:0.0:0.7003	.	201	Q8NGD1	OR4N2_HUMAN	L	201	ENSP00000319601:F201L	ENSP00000319601:F201L	F	+	1	0	OR4N2	19366048	0.000000	0.05858	1.000000	0.80357	0.976000	0.68499	0.181000	0.16880	2.008000	0.58898	0.477000	0.44152	TTC		0.507	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
OR51B6	390058	mdanderson.org	37	11	5373489	5373489	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:5373489T>C	ENST00000380219.1	+	1	752	c.752T>C	c.(751-753)gTc>gCc	p.V251A	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	251					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCTTCTATGTCACTGTAGTT	0.443																																						.											0													243.0	214.0	224.0					11																	5373489		2201	4297	6498	SO:0001583	missense	390058				CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.752T>C	11.37:g.5373489T>C	ENSP00000369568:p.Val251Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000380219.1	37	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312400	0.40895	.	.	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.38240	1.15	4.89	3.76	0.43208	GPCR, rhodopsin-like superfamily (1);	0.423027	0.19753	N	0.106855	T	0.42720	0.1215	M	0.73217	2.22	0.25539	N	0.987191	B	0.34349	0.45	B	0.41917	0.37	T	0.41805	-0.9488	10	0.72032	D	0.01	.	8.6465	0.34009	0.0:0.0915:0.0:0.9085	.	251	Q9H340	O51B6_HUMAN	A	250;251	ENSP00000369568:V251A	ENSP00000369568:V251A	V	+	2	0	OR51B6	5330065	0.001000	0.12720	0.761000	0.31378	0.953000	0.61014	1.201000	0.32259	0.883000	0.36040	0.455000	0.32223	GTC		0.443	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750	
OR5H6	79295	mdanderson.org	37	3	97983656	97983656	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:97983656A>G	ENST00000383696.2	+	1	569	c.528A>G	c.(526-528)gaA>gaG	p.E176E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	176						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TAATCCATGAAGCTTTTTCAT	0.338																																						.											0													84.0	85.0	85.0					3																	97983656		2203	4297	6500	SO:0001819	synonymous_variant	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.528A>G	3.37:g.97983656A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF88	Silent	SNP	ENST00000383696.2	37	CCDS33800.1																																																																																				0.338	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
OR5L1	219437	mdanderson.org	37	11	55579068	55579068	+	Silent	SNP	C	C	T	rs575553149		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:55579068C>T	ENST00000333973.2	+	1	215	c.126C>T	c.(124-126)aaC>aaT	p.N42N		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGTTAGCCAACCTGGGCATGA	0.498																																						.											0													325.0	285.0	299.0					11																	55579068		2200	4296	6496	SO:0001819	synonymous_variant	219437			AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.126C>T	11.37:g.55579068C>T		Somatic		WXS	Illumina HiSeq	Phase_I	B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	CCDS31509.1																																																																																				0.498	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
OR8J3	81168	mdanderson.org	37	11	55905070	55905070	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:55905070T>C	ENST00000301529.1	-	1	124	c.125A>G	c.(124-126)aAc>aGc	p.N42S		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GATGCCCAGGTTCCCTGCCAT	0.488																																						.											0													140.0	135.0	137.0					11																	55905070		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.125A>G	11.37:g.55905070T>C	ENSP00000301529:p.Asn42Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6IFB6|Q96RC2	Missense_Mutation	SNP	ENST00000301529.1	37	CCDS31520.1	.	.	.	.	.	.	.	.	.	.	T	14.95	2.688331	0.48097	.	.	ENSG00000167822	ENST00000301529	T	0.75477	-0.94	3.26	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000002	D	0.88603	0.6481	H	0.94385	3.53	0.22435	N	0.999106	D	0.76494	0.999	D	0.87578	0.998	T	0.81086	-0.1092	10	0.87932	D	0	.	11.5522	0.50726	0.0:0.0:0.0:1.0	.	42	Q8NGG0	OR8J3_HUMAN	S	42	ENSP00000301529:N42S	ENSP00000301529:N42S	N	-	2	0	OR8J3	55661646	1.000000	0.71417	0.330000	0.25442	0.569000	0.35902	6.569000	0.73992	1.268000	0.44264	0.240000	0.17902	AAC		0.488	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391542.1	NM_001004064	
OR8U1	219417	mdanderson.org	37	11	56143256	56143256	+	Missense_Mutation	SNP	A	A	G	rs386753756|rs74825677		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:56143256A>G	ENST00000302270.1	+	1	157	c.157A>G	c.(157-159)Aca>Gca	p.T53A		NM_001005204.1	NP_001005204.1	Q8NH10	OR8U1_HUMAN	olfactory receptor, family 8, subfamily U, member 1	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TAGAGCGGATACAAGTCTCAA	0.418																																						.											0													327.0	294.0	304.0					11																	56143256		1956	4154	6110	SO:0001583	missense	219417			AB065603	CCDS41647.1	11q11	2012-08-09			ENSG00000172199	ENSG00000172199		"""GPCR / Class A : Olfactory receptors"""	19611	protein-coding gene	gene with protein product							Standard	NM_001005204		Approved			Q8NH10	OTTHUMG00000166860	ENST00000302270.1:c.157A>G	11.37:g.56143256A>G	ENSP00000304188:p.Thr53Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000302270.1	37	CCDS41647.1	.	.	.	.	.	.	.	.	.	.	A	4.189	0.033793	0.08101	.	.	ENSG00000172199	ENST00000302270	T	0.01059	5.39	5.78	-6.39	0.01951	GPCR, rhodopsin-like superfamily (1);	0.885835	0.09510	N	0.792369	T	0.00440	0.0014	N	0.00980	-1.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47433	-0.9118	10	0.46703	T	0.11	.	3.3504	0.07150	0.1348:0.1829:0.1579:0.5243	.	53	Q8NH10	OR8U1_HUMAN	A	53	ENSP00000304188:T53A	ENSP00000304188:T53A	T	+	1	0	OR8U1	55899832	0.000000	0.05858	0.037000	0.18230	0.000000	0.00434	-1.314000	0.02715	-0.777000	0.04572	-2.892000	0.00095	ACA		0.418	OR8U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391607.1	NM_001005204	
PABPC3	5042	mdanderson.org	37	13	25671967	25671967	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:25671967G>T	ENST00000281589.3	+	1	1668	c.1631G>T	c.(1630-1632)aGg>aTg	p.R544M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	544	PABC. {ECO:0000255|PROSITE- ProRule:PRU00641}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ACTGCCTCCAGGTTGGCATCT	0.473																																						.											0													103.0	96.0	98.0					13																	25671967		2203	4300	6503	SO:0001583	missense	5042			AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1631G>T	13.37:g.25671967G>T	ENSP00000281589:p.Arg544Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	0.001	-3.144124	0.00029	.	.	ENSG00000151846	ENST00000281589	T	0.39229	1.09	0.875	-0.617	0.11579	Polyadenylate-binding protein/Hyperplastic disc protein (4);	0.097289	0.41823	N	0.000817	T	0.04724	0.0128	N	0.00020	-2.765	0.22489	N	0.99906	B	0.02656	0.0	B	0.01281	0.0	T	0.44742	-0.9308	10	0.02654	T	1	.	5.0095	0.14304	0.0:0.0:0.3097:0.6903	.	544	Q9H361	PABP3_HUMAN	M	544	ENSP00000281589:R544M	ENSP00000281589:R544M	R	+	2	0	PABPC3	24569967	1.000000	0.71417	0.879000	0.34478	0.018000	0.09664	3.843000	0.55865	-0.179000	0.10654	-0.875000	0.02981	AGG		0.473	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979	
PCDHB10	56126	mdanderson.org	37	5	140572820	140572820	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:140572820T>C	ENST00000239446.4	+	1	879	c.695T>C	c.(694-696)gTc>gCc	p.V232A		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	232	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCATCGTTGTCTTGGACGTC	0.552																																						.											0													75.0	78.0	77.0					5																	140572820		2203	4300	6503	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.695T>C	5.37:g.140572820T>C	ENSP00000239446:p.Val232Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	T	13.41	2.229226	0.39399	.	.	ENSG00000120324	ENST00000239446	T	0.68181	-0.31	3.41	3.41	0.39046	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.87010	0.6071	H	0.98612	4.28	0.37600	D	0.920501	D	0.61697	0.99	D	0.65573	0.936	D	0.92125	0.5707	9	0.87932	D	0	.	12.0382	0.53438	0.0:0.0:0.0:1.0	.	232	Q9UN67	PCDBA_HUMAN	A	232	ENSP00000239446:V232A	ENSP00000239446:V232A	V	+	2	0	PCDHB10	140553004	1.000000	0.71417	0.004000	0.12327	0.178000	0.23041	6.028000	0.70889	1.572000	0.49736	0.454000	0.30748	GTC		0.552	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1	NM_018930	
PFDN4	5203	mdanderson.org	37	20	52830988	52830988	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:52830988A>G	ENST00000371419.2	+	2	377	c.123A>G	c.(121-123)gaA>gaG	p.E41E	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	41					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chaperone binding (GO:0051087)			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AAGAAATAGAAGTAAAAAAGG	0.284																																						.											0													20.0	19.0	20.0					20																	52830988		2202	4291	6493	SO:0001819	synonymous_variant	5203			U41816	CCDS13445.1	20q13.2	2008-07-02	2006-02-24		ENSG00000101132	ENSG00000101132			8868	protein-coding gene	gene with protein product		604898	"""prefoldin 4"""			9630229, 8744932	Standard	NM_002623		Approved	PFD4, C-1, C1	uc002xwx.3	Q9NQP4	OTTHUMG00000032775	ENST00000371419.2:c.123A>G	20.37:g.52830988A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5TD11|Q92779	Silent	SNP	ENST00000371419.2	37	CCDS13445.1																																																																																				0.284	PFDN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079771.2	NM_002623	
PLIN4	729359	mdanderson.org	37	19	4512514	4512514	+	Silent	SNP	G	G	C	rs7259625	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:4512514G>C	ENST00000301286.3	-	3	1415	c.1416C>G	c.(1414-1416)ggC>ggG	p.G472G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	472	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGTCCAGGCCGCCCTGGACGG	0.602													G|||	1797	0.358826	0.6657	0.2305	5008	,	,		22698	0.1032		0.33	False		,,,				2504	0.3282					.											0								C		2301,1611		711,879,366	102.0	114.0	110.0		1416	-10.5	0.0	19	dbSNP_116	110	2661,5623		420,1821,1901	no	coding-synonymous	PLIN4	NM_001080400.1		1131,2700,2267	CC,CG,GG		32.1222,41.181,40.6855		472/1358	4512514	4962,7234	1956	4142	6098	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.1416C>G	19.37:g.4512514G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6NEI2	Silent	SNP	ENST00000301286.3	37	CCDS45927.1																																																																																				0.602	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901	
PLXNC1	10154	mdanderson.org	37	12	94676121	94676121	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:94676121T>C	ENST00000258526.4	+	23	4072	c.3823T>C	c.(3823-3825)Tcc>Ccc	p.S1275P	RP11-1105G2.3_ENST00000551941.1_5'Flank|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Missense_Mutation_p.S14P|PLXNC1_ENST00000547057.1_Missense_Mutation_p.S322P	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1275					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CATCGACAGTTCCTCCGTGAT	0.438																																						.											0													141.0	131.0	134.0					12																	94676121		2203	4300	6503	SO:0001583	missense	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3823T>C	12.37:g.94676121T>C	ENSP00000258526:p.Ser1275Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.973270	0.74246	.	.	ENSG00000136040	ENST00000258526;ENST00000547057;ENST00000545312	T;T;T	0.11930	2.73;2.73;2.73	5.92	5.92	0.95590	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.103828	0.64402	D	0.000005	T	0.28566	0.0707	L	0.42245	1.32	0.43330	D	0.995366	D;D	0.76494	0.982;0.999	P;D	0.66847	0.584;0.947	T	0.00607	-1.1647	10	0.41790	T	0.15	.	14.9345	0.70944	0.0:0.0:0.0:1.0	.	322;1275	B4DHQ7;O60486	.;PLXC1_HUMAN	P	1275;322;14	ENSP00000258526:S1275P;ENSP00000446720:S322P;ENSP00000439225:S14P	ENSP00000258526:S1275P	S	+	1	0	PLXNC1	93200252	0.992000	0.36948	0.780000	0.31762	0.778000	0.44026	3.528000	0.53524	2.270000	0.75569	0.459000	0.35465	TCC		0.438	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2		
POFUT1	23509	mdanderson.org	37	20	30804433	30804433	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:30804433T>C	ENST00000375749.3	+	4	513	c.451T>C	c.(451-453)Ttc>Ctc	p.F151L	POFUT1_ENST00000486717.1_3'UTR|POFUT1_ENST00000375730.3_Missense_Mutation_p.F151L|POFUT1_ENST00000539210.1_Intron	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	151					angiogenesis (GO:0001525)|embryo development (GO:0009790)|fucose metabolic process (GO:0006004)|heart development (GO:0007507)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|O-glycan processing (GO:0016266)|protein O-linked fucosylation (GO:0036066)|protein O-linked glycosylation (GO:0006493)|regulation of transcription, DNA-templated (GO:0006355)|somitogenesis (GO:0001756)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	fucosyltransferase activity (GO:0008417)|peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTTTGGCCCATTCTGGGATCA	0.507																																						.											0													117.0	112.0	114.0					20																	30804433		2203	4300	6503	SO:0001583	missense	23509			AF375884	CCDS13198.1, CCDS13199.1	20q11	2013-03-06			ENSG00000101346	ENSG00000101346	2.4.1.221	"""Fucosyltransferases"""	14988	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 1"""	607491				9023546, 9525914	Standard	NM_015352		Approved	O-FUT, O-Fuc-T, KIAA0180, FUT12	uc002wxp.3	Q9H488	OTTHUMG00000133268	ENST00000375749.3:c.451T>C	20.37:g.30804433T>C	ENSP00000364902:p.Phe151Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A8K4R8|E1P5M4|Q14685|Q5W185|Q9BW76	Missense_Mutation	SNP	ENST00000375749.3	37	CCDS13198.1	.	.	.	.	.	.	.	.	.	.	T	33	5.197325	0.94960	.	.	ENSG00000101346	ENST00000375749;ENST00000375730	T;T	0.31510	1.49;1.49	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.996	T	0.73975	-0.3813	10	0.87932	D	0	.	16.2041	0.82108	0.0:0.0:0.0:1.0	.	151;151	Q9H488;Q9H488-2	OFUT1_HUMAN;.	L	151	ENSP00000364902:F151L;ENSP00000364882:F151L	ENSP00000364882:F151L	F	+	1	0	POFUT1	30268094	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.444000	0.80532	2.219000	0.72066	0.533000	0.62120	TTC		0.507	POFUT1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078613.1	NM_015352	
POTEE	445582	mdanderson.org	37	2	131981279	131981279	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:131981279T>C	ENST00000356920.5	+	2	726	c.632T>C	c.(631-633)aTa>aCa	p.I211T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.I211T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	211					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.T208fs*21(1)|p.?(1)									ACAGCTCTGATAAAGGTATGC	0.388																																						.											2	Unknown(1)|Deletion - Frameshift(1)	prostate(2)											4.0	5.0	5.0					2																	131981279		1352	3035	4387	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.632T>C	2.37:g.131981279T>C	ENSP00000439189:p.Ile211Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	2.085	-0.409789	0.04799	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.64991	-0.13;1.56	1.16	-0.171	0.13331	Ankyrin repeat-containing domain (4);	1.226600	0.05905	N	0.630695	T	0.40815	0.1132	N	0.20445	0.575	0.21064	N	0.999798	B	0.17465	0.022	B	0.14023	0.01	T	0.14868	-1.0457	10	0.12766	T	0.61	.	4.0041	0.09593	0.0:0.2359:0.0:0.7641	.	211	Q6S8J3	POTEE_HUMAN	T	211	ENSP00000439189:I211T;ENSP00000443049:I211T	ENSP00000439189:I211T	I	+	2	0	AC131180.1	131697749	1.000000	0.71417	0.006000	0.13384	0.023000	0.10783	1.399000	0.34566	-0.227000	0.09884	-1.288000	0.01363	ATA		0.388	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
POTEE	445582	mdanderson.org	37	2	132021766	132021766	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:132021766A>C	ENST00000356920.5	+	15	2832	c.2738A>C	c.(2737-2739)aAa>aCa	p.K913T	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	913	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.K913T(1)									CGTGACATCAAAGAGAAGCTG	0.602																																						.											1	Substitution - Missense(1)	large_intestine(1)											73.0	77.0	75.0					2																	132021766		1926	3862	5788	SO:0001583	missense	445582			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2738A>C	2.37:g.132021766A>C	ENSP00000439189:p.Lys913Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	15.85	2.956333	0.53293	.	.	ENSG00000188219	ENST00000356920	D	0.97850	-4.57	.	.	.	.	.	.	.	.	D	0.99177	0.9715	H	0.99884	4.89	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96111	0.9077	8	0.87932	D	0	.	4.5487	0.12098	0.9994:0.0:6.0E-4:0.0	.	913	Q6S8J3	POTEE_HUMAN	T	913	ENSP00000439189:K913T	ENSP00000439189:K913T	K	+	2	0	AC131180.1	131738236	1.000000	0.71417	0.327000	0.25402	0.329000	0.28539	6.177000	0.71961	0.103000	0.17682	0.102000	0.15555	AAA		0.602	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538	
PPARGC1A	10891	mdanderson.org	37	4	23814445	23814445	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:23814445T>C	ENST00000264867.2	-	10	2063	c.1944A>G	c.(1942-1944)gaA>gaG	p.E648E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	648	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.E648D(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGCGATATTCTTCCCTCTTCA	0.463																																					Esophageal Squamous(29;694 744 13796 34866 44181)	.											1	Substitution - Missense(1)	lung(1)											192.0	178.0	183.0					4																	23814445		2203	4300	6503	SO:0001819	synonymous_variant	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1944A>G	4.37:g.23814445T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	CCDS3429.1																																																																																				0.463	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261	
PPP2R5C	5527	mdanderson.org	37	14	102252425	102252425	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:102252425T>C	ENST00000328724.5	+	3	173	c.164T>C	c.(163-165)gTc>gCc	p.V55A	PPP2R5C_ENST00000422945.2_Intron|PPP2R5C_ENST00000554442.1_Missense_Mutation_p.V55A|PPP2R5C_ENST00000556068.1_3'UTR	NM_001161726.1	NP_001155198.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	0					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AAAGTACCAGTCTCTCAGCCC	0.363																																						.											0													38.0	33.0	34.0					14																	102252425		1558	3569	5127	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000328724.5:c.164T>C	14.37:g.102252425T>C	ENSP00000329009:p.Val55Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	ENST00000328724.5	37	CCDS53911.1	.	.	.	.	.	.	.	.	.	.	T	7.738	0.700743	0.15172	.	.	ENSG00000078304	ENST00000554442;ENST00000328724	T	0.40476	1.03	5.25	-6.75	0.01738	.	2.481240	0.01619	N	0.022907	T	0.25754	0.0627	.	.	.	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.06405	0.001;0.002	T	0.47484	-0.9114	9	0.06891	T	0.86	7.2615	20.3963	0.98984	0.0:0.8656:0.0:0.1344	.	55;55	Q6ZN33;G3V292	.;.	A	55	ENSP00000329009:V55A	ENSP00000329009:V55A	V	+	2	0	PPP2R5C	101322178	0.000000	0.05858	0.000000	0.03702	0.870000	0.49936	-0.663000	0.05299	-1.772000	0.01292	0.459000	0.35465	GTC		0.363	PPP2R5C-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414362.1	NM_002719	
PRB2	653247	mdanderson.org	37	12	11546764	11546764	+	Missense_Mutation	SNP	G	G	T	rs201994479	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:11546764G>T	ENST00000389362.4	-	3	283	c.248C>A	c.(247-249)cCa>cAa	p.P83Q	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	83	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-P-Q-G-[GD]-[NKS]-[KSQ]- [PRS]-[QRS] [GPS]-[PSAR]-[PSR].					extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GCCTCCTTGTGGGGGTGGTCC	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18324	0.0		0.0	False		,,,				2504	0.0					.											0													126.0	144.0	138.0					12																	11546764		2136	4201	6337	SO:0001583	missense	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.248C>A	12.37:g.11546764G>T	ENSP00000374013:p.Pro83Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O00599|P02811|P04281	Missense_Mutation	SNP	ENST00000389362.4	37	CCDS41757.2	.	.	.	.	.	.	.	.	.	.	.	5.566	0.289209	0.10513	.	.	ENSG00000121335	ENST00000389362	T	0.05081	3.5	1.52	-3.05	0.05396	.	.	.	.	.	T	0.04182	0.0116	L	0.58810	1.83	0.24408	N	0.994672	P	0.39094	0.659	B	0.24394	0.053	T	0.28427	-1.0044	9	0.24483	T	0.36	.	3.2388	0.06773	0.1674:0.0:0.4493:0.3833	.	83	P02812	PRB2_HUMAN	Q	83	ENSP00000374013:P83Q	ENSP00000374013:P83Q	P	-	2	0	PRB2	11438031	0.077000	0.21312	0.033000	0.17914	0.073000	0.16967	-0.297000	0.08276	-1.559000	0.01688	-1.417000	0.01113	CCA		0.617	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346925.2	NM_006248	
PRDM9	56979	mdanderson.org	37	5	23527721	23527721	+	Missense_Mutation	SNP	C	C	A	rs201643800		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:23527721C>A	ENST00000296682.3	+	11	2706	c.2524C>A	c.(2524-2526)Cgc>Agc	p.R842S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	842					meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GCGGGGCTTTCGCAATAAGTC	0.587										HNSCC(3;0.000094)																												.											0													64.0	74.0	71.0					5																	23527721		2182	4295	6477	SO:0001583	missense	56979			AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.2524C>A	5.37:g.23527721C>A	ENSP00000296682:p.Arg842Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.150552	0.00029	.	.	ENSG00000164256	ENST00000296682	T	0.07567	3.18	2.67	1.45	0.22620	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01940	0.0061	N	0.01438	-0.865	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.44483	-0.9325	9	0.02654	T	1	0.1175	0.5976	0.00739	0.4516:0.2128:0.1287:0.207	.	842	Q9NQV7	PRDM9_HUMAN	S	842	ENSP00000296682:R842S	ENSP00000296682:R842S	R	+	1	0	PRDM9	23563478	0.000000	0.05858	0.005000	0.12908	0.001000	0.01503	-0.822000	0.04448	0.037000	0.15575	-0.566000	0.04163	CGC		0.587	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
PRDX2	7001	mdanderson.org	37	19	12911040	12911040	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:12911040A>G	ENST00000301522.2	-	4	459	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	PRDX2_ENST00000334482.5_Silent_p.L111L|CTD-2659N19.10_ENST00000585496.1_RNA	NM_005809.4	NP_005800.3	P32119	PRDX2_HUMAN	peroxiredoxin 2	111	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to oxidative stress (GO:0034599)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of apoptotic process (GO:0042981)|removal of superoxide radicals (GO:0019430)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	antioxidant activity (GO:0016209)|thioredoxin peroxidase activity (GO:0008379)			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCTCAGACAAGCGTCTGGTC	0.622																																						.											0													71.0	74.0	73.0					19																	12911040		2203	4300	6503	SO:0001819	synonymous_variant	7001				CCDS12281.1	19p13.2	2008-07-17			ENSG00000167815	ENSG00000167815			9353	protein-coding gene	gene with protein product	"""thioredoxin-dependent peroxide reductase 1"", ""thiol-specific antioxidant 1"", ""natural killer-enhancing factor B"", ""thioredoxin peroxidase 1"", ""torin"""	600538		TDPX1		7607688	Standard	NM_005809		Approved	PRP, NKEFB, TSA, PRXII, PRX2, MGC4104	uc002mvd.4	P32119	OTTHUMG00000134285	ENST00000301522.2:c.331T>C	19.37:g.12911040A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K0C0|P31945|P32118|P35701|Q6FHG4|Q92763|Q9UC23	Missense_Mutation	SNP	ENST00000301522.2	37	CCDS12281.1																																																																																				0.622	PRDX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258950.2	NM_005809	
PRSS1	5644	mdanderson.org	37	7	142458526	142458526	+	Missense_Mutation	SNP	A	A	G	rs144422014		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:142458526A>G	ENST00000311737.7	+	2	167	c.161A>G	c.(160-162)aAc>aGc	p.N54S	PRSS1_ENST00000486171.1_Missense_Mutation_p.N54S	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	54	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		N -> S (in PCTT; associated with Ile-29; the double mutant shows increased autocatalytic activation which is solely due to the Ile-29 mutation). {ECO:0000269|PubMed:15776435}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	TCCCTCATCAACGAACAGTGG	0.572																																						.											0													88.0	91.0	90.0					7																	142458526		2203	4300	6503	SO:0001583	missense	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.161A>G	7.37:g.142458526A>G	ENSP00000308720:p.Asn54Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Missense_Mutation	SNP	ENST00000311737.7	37	CCDS5872.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.848646	0.00563	.	.	ENSG00000204983	ENST00000486171;ENST00000311737;ENST00000529243;ENST00000492062	D;D;T	0.91577	-2.87;-2.87;-1.25	3.49	-6.32	0.01995	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.304664	0.39083	N	0.001478	T	0.62938	0.2469	N	0.00765	-1.205	0.09310	A	6.371e-07	B	0.02656	0.0	B	0.04013	0.001	T	0.62258	-0.6892	9	0.16896	T	0.51	.	6.9591	0.24587	0.4768:0.1255:0.3977:0.0	.	54	P07477	TRY1_HUMAN	S	54;54;54;4	ENSP00000417854:N54S;ENSP00000308720:N54S;ENSP00000419912:N4S	ENSP00000308720:N54S	N	+	2	0	PRSS1	142138100	0.000000	0.05858	0.248000	0.24265	0.005000	0.04900	-1.543000	0.02194	-1.143000	0.02866	-0.874000	0.02982	AAC		0.572	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352538.2		
PRSS3	5646	mdanderson.org	37	9	33796672	33796673	+	Missense_Mutation	DNP	TG	TG	CA	rs77765166|rs76740888		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	TG	TG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr9:33796672_33796673TG>CA	ENST00000361005.5	+	2	243_244	c.243_244TG>CA	c.(241-246)atTGtt>atCAtt	p.V82I	PRSS3_ENST00000429677.3_Missense_Mutation_p.V18I|PRSS3_ENST00000342836.4_Missense_Mutation_p.V39I|RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000379405.3_Missense_Mutation_p.V25I	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	82	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			ATGACAAGATTGTTGGGGGCTA	0.554																																						.											0																																										SO:0001583	missense	5646				CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	Exception_encountered	9.37:g.33796672_33796673delinsCA	ENSP00000354280:p.Val82Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Missense_Mutation	DNP	ENST00000361005.5	37	CCDS47958.1																																																																																				0.554	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
PSMC6	5706	mdanderson.org	37	14	53178163	53178163	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:53178163A>G	ENST00000606149.1	+	6	378	c.362A>G	c.(361-363)aAc>aGc	p.N121S	PSMC6_ENST00000445930.2_Missense_Mutation_p.N135S	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	121					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					CTGGTTTATAACATGTCTCAT	0.393																																						.											0													144.0	147.0	146.0					14																	53178163		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.362A>G	14.37:g.53178163A>G	ENSP00000475721:p.Asn121Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	ENST00000606149.1	37		.	.	.	.	.	.	.	.	.	.	A	18.00	3.525329	0.64747	.	.	ENSG00000100519	ENST00000445930	D	0.93604	-3.25	4.84	4.84	0.62591	.	0.270730	0.45867	D	0.000331	D	0.91432	0.7296	M	0.73962	2.25	0.80722	D	1	B;B	0.17852	0.001;0.024	B;B	0.16722	0.007;0.016	D	0.87424	0.2384	10	0.07990	T	0.79	.	14.7652	0.69634	1.0:0.0:0.0:0.0	.	121;101	P62333;B4DR91	PRS10_HUMAN;.	S	135	ENSP00000401802:N135S	ENSP00000401802:N135S	N	+	2	0	PSMC6	52247913	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.847000	0.92166	1.960000	0.56953	0.529000	0.55759	AAC		0.393	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000470741.1	NM_002806	
PTGDR2	11251	mdanderson.org	37	11	60621139	60621139	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:60621139A>G	ENST00000332539.4	-	2	168	c.57T>C	c.(55-57)cgT>cgC	p.R19R	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	19					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	GGCTCTGGAGACGGCTCATCT	0.642																																						.											0													50.0	39.0	43.0					11																	60621139		2185	4271	6456	SO:0001819	synonymous_variant	11251			AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.57T>C	11.37:g.60621139A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O94765|Q4QRI6	Silent	SNP	ENST00000332539.4	37	CCDS7994.1																																																																																				0.642	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778	
PVRL2	5819	mdanderson.org	37	19	45391603	45391603	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:45391603A>G	ENST00000252483.5	+	9	1584	c.1584A>G	c.(1582-1584)aaA>aaG	p.K528K	TOMM40_ENST00000592434.1_5'Flank|CTB-129P6.4_ENST00000585408.1_RNA|TOMM40_ENST00000252487.5_5'Flank|TOMM40_ENST00000426677.2_5'Flank|TOMM40_ENST00000405636.2_5'Flank	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	528					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		ACCAGGGCAAAGGCTTTGTCA	0.532																																						.											0													90.0	85.0	87.0					19																	45391603		1982	4161	6143	SO:0001819	synonymous_variant	5819			X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1584A>G	19.37:g.45391603A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K5L5|O75455|Q6IBI6|Q96J29	Silent	SNP	ENST00000252483.5	37	CCDS42576.1																																																																																				0.532	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856	
RAI14	26064	mdanderson.org	37	5	34824215	34824215	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:34824215A>G	ENST00000265109.3	+	15	2555	c.2268A>G	c.(2266-2268)gaA>gaG	p.E756E	RAI14_ENST00000397449.1_Silent_p.E749E|RAI14_ENST00000428746.2_Silent_p.E756E|RAI14_ENST00000515799.1_Silent_p.E759E|RAI14_ENST00000512629.1_Silent_p.E727E|RAI14_ENST00000506376.1_Silent_p.E748E|RAI14_ENST00000503673.1_Silent_p.E756E	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	756						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ATCTTAAGGAACACCTTGCAA	0.423																																						.											0													80.0	77.0	78.0					5																	34824215		2203	4300	6503	SO:0001819	synonymous_variant	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.2268A>G	5.37:g.34824215A>G		Somatic		WXS	Illumina HiSeq	Phase_I	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Silent	SNP	ENST00000265109.3	37	CCDS34142.1																																																																																				0.423	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366786.1	NM_015577	
RER1	11079	mdanderson.org	37	1	2333768	2333768	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:2333768A>G	ENST00000605895.1	+	6	621	c.488A>G	c.(487-489)aAg>aGg	p.K163R	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.K163R	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	163				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940). {ECO:0000305}.	positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)	cell surface (GO:0009986)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		ATCACGATGAAGAGGCAAATC	0.557																																						.											0													114.0	117.0	116.0					1																	2333768		2096	4224	6320	SO:0001583	missense	11079			AF157324	CCDS41232.1	1p36	2013-10-18	2013-10-18		ENSG00000157916	ENSG00000157916			30309	protein-coding gene	gene with protein product			"""RER1 retention in endoplasmic reticulum 1 homolog (S. cerevisiae)"""			9309388, 17668005	Standard	NM_007033		Approved		uc001aje.2	O15258	OTTHUMG00000001403	ENST00000605895.1:c.488A>G	1.37:g.2333768A>G	ENSP00000475168:p.Lys163Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O95322	Missense_Mutation	SNP	ENST00000605895.1	37	CCDS41232.1	.	.	.	.	.	.	.	.	.	.	A	13.12	2.142674	0.37825	.	.	ENSG00000157916	ENST00000306256;ENST00000434662	.	.	.	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.47358	0.1441	L	0.33668	1.02	0.80722	D	1	B	0.33857	0.429	B	0.39531	0.302	T	0.37731	-0.9693	9	0.06757	T	0.87	.	14.2383	0.65941	1.0:0.0:0.0:0.0	.	163	O15258	RER1_HUMAN	R	163	.	ENSP00000302088:K163R	K	+	2	0	RER1	2323628	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	8.127000	0.89593	1.979000	0.57680	0.383000	0.25322	AAG		0.557	RER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004061.2		
RFPL1	5988	mdanderson.org	37	22	29837976	29837976	+	Silent	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:29837976C>A	ENST00000354373.2	+	2	1028	c.819C>A	c.(817-819)gtC>gtA	p.V273V	RFPL1S_ENST00000539579.1_RNA|RFPL1S_ENST00000461286.3_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	273	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.V273V(2)		endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TCAGGAGTGTCTCTGCTGAGG	0.468																																						.											2	Substitution - coding silent(2)	lung(1)|endometrium(1)											116.0	96.0	103.0					22																	29837976		2203	4300	6503	SO:0001819	synonymous_variant	5988			AJ010228	CCDS13857.2	22q12	2006-04-25			ENSG00000128250	ENSG00000128250		"""RING-type (C3HC4) zinc fingers"""	9977	protein-coding gene	gene with protein product		605968				10508838	Standard	NM_021026		Approved	RNF78	uc003afn.3	O75677	OTTHUMG00000150516	ENST00000354373.2:c.819C>A	22.37:g.29837976C>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IC06|Q9UJ97	Silent	SNP	ENST00000354373.2	37	CCDS13857.2																																																																																				0.468	RFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318719.1	NM_021026	
RFPL3	10738	mdanderson.org	37	22	32756535	32756535	+	Missense_Mutation	SNP	A	A	G	rs61729167		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:32756535A>G	ENST00000249007.4	+	2	875	c.670A>G	c.(670-672)Agc>Ggc	p.S224G	RFPL3S_ENST00000461833.1_5'Flank|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000382088.3_Missense_Mutation_p.S195G|RFPL3_ENST00000397468.1_Missense_Mutation_p.S195G|RFPL3S_ENST00000400234.1_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	224	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAGGGATGGAAGCCGCCTCTC	0.527																																						.											0													91.0	90.0	91.0					22																	32756535		2203	4300	6503	SO:0001583	missense	10738			AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.670A>G	22.37:g.32756535A>G	ENSP00000249007:p.Ser224Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	A	0.021	-1.428982	0.01117	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.70749	-0.51;-0.51;-0.51	1.36	-2.73	0.05950	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.39226	0.1070	N	0.03253	-0.375	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18840	-1.0324	9	0.15952	T	0.53	.	6.1058	0.20073	0.6245:0.0:0.3755:0.0	rs61729167	224	O75679	RFPL3_HUMAN	G	195;224;195	ENSP00000380609:S195G;ENSP00000249007:S224G;ENSP00000371520:S195G	ENSP00000249007:S224G	S	+	1	0	RFPL3	31086535	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.244000	0.18124	-1.231000	0.02557	-1.194000	0.01681	AGC		0.527	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604	
RIIAD1	284485	mdanderson.org	37	1	151701255	151701255	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:151701255T>C	ENST00000479191.1	+	4	222	c.222T>C	c.(220-222)gaT>gaC	p.D74D	RIIAD1_ENST00000326413.3_Silent_p.D84D|RIIAD1_ENST00000426175.1_3'UTR|AL589765.1_ENST00000442233.2_3'UTR	NM_001144956.1	NP_001138428.1	A6NNX1	RIAD1_HUMAN	regulatory subunit of type II PKA R-subunit (RIIa) domain containing 1	74	RIIa.									endometrium(1)	1						ACTTCACGGATCCAAGACTTC	0.413																																						.											0													254.0	190.0	209.0					1																	151701255		692	1591	2283	SO:0001819	synonymous_variant	284485				CCDS53368.1	1q21.3	2011-01-11	2011-01-11	2011-01-11	ENSG00000178796	ENSG00000178796			26686	protein-coding gene	gene with protein product			"""non-protein coding RNA 166"", ""chromosome 1 open reading frame 230"""	NCRNA00166, C1orf230			Standard	NM_001144956		Approved	FLJ36032	uc010pdj.1	A6NNX1	OTTHUMG00000013055	ENST00000479191.1:c.222T>C	1.37:g.151701255T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000479191.1	37	CCDS53368.1																																																																																				0.413	RIIAD1-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036631.2	NM_001144956	
RRP7A	27341	mdanderson.org	37	22	42910784	42910784	+	Splice_Site	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:42910784C>T	ENST00000323013.6	-	5	477	c.462G>A	c.(460-462)aaG>aaA	p.K154K	SERHL_ENST00000359906.2_RNA	NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	154							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602																																						.											1	Substitution - coding silent(1)	prostate(1)											46.0	50.0	49.0					22																	42910784		2189	4299	6488	SO:0001630	splice_region_variant	27341			BC035992	CCDS14036.1	22q13.2	2008-08-08			ENSG00000189306	ENSG00000189306			24286	protein-coding gene	gene with protein product						10810093, 12087473	Standard	NM_015703		Approved	CGI-96	uc003bcq.3	Q9Y3A4	OTTHUMG00000150891	ENST00000323013.6:c.461-1G>A	22.37:g.42910784C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4FTX2|B2RBG4|Q0VAD0|Q5JZ94|Q6P4B5|Q8IVR9|Q8IVY0|Q8N5Q3|Q8NEY6|Q9Y3H5	Silent	SNP	ENST00000323013.6	37	CCDS14036.1																																																																																				0.602	RRP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320451.1	NM_015703	Silent
RRP8	23378	mdanderson.org	37	11	6623149	6623149	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:6623149T>C	ENST00000254605.6	-	2	513	c.396A>G	c.(394-396)agA>agG	p.R132R	ILK_ENST00000299421.4_5'Flank|ILK_ENST00000396751.2_5'Flank|ILK_ENST00000537806.1_5'Flank|RRP8_ENST00000534343.1_Intron|ILK_ENST00000420936.2_5'Flank|RP11-732A19.8_ENST00000527191.1_RNA|ILK_ENST00000528995.1_5'Flank	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	132					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						ATTTCCTCTTTCTTTTCTCAT	0.463																																						.											0													165.0	149.0	155.0					11																	6623149		2201	4296	6497	SO:0001819	synonymous_variant	23378			AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.396A>G	11.37:g.6623149T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q7KZ78|Q9BVM6	Silent	SNP	ENST00000254605.6	37	CCDS31411.1																																																																																				0.463	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1	NM_015324	
SBF2	81846	mdanderson.org	37	11	9809226	9809226	+	Nonsense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:9809226C>T	ENST00000256190.8	-	36	5129	c.4992G>A	c.(4990-4992)tgG>tgA	p.W1664*	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1664	Interaction with MTMR2.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		TTACCCTTTCCCACAGCTGCT	0.443																																						.											0													125.0	116.0	119.0					11																	9809226		2201	4294	6495	SO:0001587	stop_gained	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.4992G>A	11.37:g.9809226C>T	ENSP00000256190:p.Trp1664*	Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Nonsense_Mutation	SNP	ENST00000256190.8	37	CCDS31427.1	.	.	.	.	.	.	.	.	.	.	C	47	13.366877	0.99737	.	.	ENSG00000133812	ENST00000256190;ENST00000532095	.	.	.	6.17	6.17	0.99709	.	0.142478	0.56097	D	0.000023	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	1664;52	.	ENSP00000256190:W1664X	W	-	3	0	SBF2	9765802	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.435000	0.80391	2.941000	0.99782	0.655000	0.94253	TGG		0.443	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386911.2	NM_030962	
SCN11A	11280	mdanderson.org	37	3	38912235	38912235	+	Splice_Site	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:38912235C>T	ENST00000302328.3	-	22	3958	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	SCN11A_ENST00000450244.1_Splice_Site_p.A1254T|SCN11A_ENST00000444237.2_Splice_Site_p.A1254T|SCN11A_ENST00000456224.3_Splice_Site_p.A1216T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1254					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A1254S(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TTAAATGTTGCCTGCAACAAA	0.418																																						.											1	Substitution - Missense(1)	lung(1)											92.0	83.0	86.0					3																	38912235		2203	4300	6503	SO:0001630	splice_region_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.3760-1G>A	3.37:g.38912235C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	30	5.056134	0.93793	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02	4.55	4.55	0.56014	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98927	0.9636	M	0.83312	2.635	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99835	1.1057	10	0.87932	D	0	.	17.2484	0.87034	0.0:1.0:0.0:0.0	.	1254	Q9UI33	SCNBA_HUMAN	T	1254;1254;1216;1254	ENSP00000307599:A1254T;ENSP00000400945:A1254T;ENSP00000416757:A1216T;ENSP00000408028:A1254T	ENSP00000307599:A1254T	A	-	1	0	SCN11A	38887239	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	5.915000	0.69973	2.219000	0.72066	0.491000	0.48974	GCA		0.418	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Missense_Mutation
SEC31A	22872	mdanderson.org	37	4	83774804	83774804	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:83774804G>A	ENST00000395310.2	-	18	2255	c.2073C>T	c.(2071-2073)tgC>tgT	p.C691C	SEC31A_ENST00000505472.1_Silent_p.C691C|SEC31A_ENST00000264405.5_Silent_p.C424C|SEC31A_ENST00000348405.4_Silent_p.C652C|SEC31A_ENST00000311785.7_Silent_p.C691C|SEC31A_ENST00000508479.1_Silent_p.C691C|SEC31A_ENST00000443462.2_Silent_p.C686C|SEC31A_ENST00000500777.2_Silent_p.C652C|SEC31A_ENST00000509142.1_Silent_p.C691C|SEC31A_ENST00000513858.1_Silent_p.C652C|SEC31A_ENST00000505984.1_Silent_p.C652C|SEC31A_ENST00000355196.2_Silent_p.C691C|SEC31A_ENST00000432794.1_Silent_p.C691C|SEC31A_ENST00000326950.5_Silent_p.C652C|SEC31A_ENST00000508502.1_Silent_p.C691C|SEC31A_ENST00000448323.1_Silent_p.C691C	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	691					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				CACAAATATAGCAGAGACATG	0.393																																						.											0													115.0	112.0	113.0					4																	83774804		2203	4300	6503	SO:0001819	synonymous_variant	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.2073C>T	4.37:g.83774804G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Silent	SNP	ENST00000395310.2	37	CCDS3596.1																																																																																				0.393	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	NM_016211	
SELL	6402	mdanderson.org	37	1	169673838	169673838	+	Missense_Mutation	SNP	G	G	A	rs2229569	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:169673838G>A	ENST00000236147.4	-	5	836	c.676C>T	c.(676-678)Cct>Tct	p.P226S	C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	213	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TTTCCCAAAGGGTGAGTACAG	0.478													G|||	1222	0.24401	0.27	0.2752	5008	,	,		19408	0.254		0.175	False		,,,				2504	0.2474					.											0								G	SER/PRO	809,2909		85,639,1135	47.0	47.0	47.0		676	5.3	0.9	1	dbSNP_98	47	1076,7044		73,930,3057	yes	missense	SELL	NM_000655.4	74	158,1569,4192	AA,AG,GG		13.2512,21.759,15.9233	probably-damaging	226/386	169673838	1885,9953	1859	4060	5919	SO:0001583	missense	6402			M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.676C>T	1.37:g.169673838G>A	ENSP00000236147:p.Pro226Ser	Somatic		WXS	Illumina HiSeq	Phase_I	B2R6Q8|P15023|Q9UJ43	Missense_Mutation	SNP	ENST00000236147.4	37	CCDS53427.1	523	0.23946886446886448	139	0.28252032520325204	91	0.2513812154696133	163	0.28496503496503495	130	0.17150395778364116	G	18.76	3.692950	0.68271	0.21759	0.132512	ENSG00000188404	ENST00000236147	T	0.48201	0.82	5.31	5.31	0.75309	Complement control module (2);Sushi/SCR/CCP (3);	0.117810	0.38326	N	0.001734	T	0.56717	0.2004	M	0.63843	1.955	0.23533	P	0.99747012	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.61033	-0.7144	9	0.56958	D	0.05	-9.9883	12.5565	0.56257	0.0:0.1674:0.8325:0.0	rs2229569;rs4987310;rs52812496;rs58249723;rs4987310	226;213	Q8WW79;P14151	.;LYAM1_HUMAN	S	226	ENSP00000236147:P226S	ENSP00000236147:P226S	P	-	1	0	SELL	167940462	0.994000	0.37717	0.872000	0.34217	0.870000	0.49936	2.131000	0.42074	2.631000	0.89168	0.655000	0.94253	CCT		0.478	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	NM_000655	
SETD6	79918	mdanderson.org	37	16	58549932	58549932	+	Silent	SNP	T	T	C	rs4784046	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:58549932T>C	ENST00000219315.4	+	2	315	c.265T>C	c.(265-267)Ttg>Ctg	p.L89L	SETD6_ENST00000394266.4_Silent_p.L65L|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000310682.2_Silent_p.L65L			Q8TBK2	SETD6_HUMAN	SET domain containing 6	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CGGAGAGCTGTTGTTCGTGGT	0.746													C|||	3856	0.769968	0.8041	0.7104	5008	,	,		7610	0.9544		0.5626	False		,,,				2504	0.7894					.											0								C	,	3001,969		1210,581,194	4.0	6.0	5.0		265,193	5.3	1.0	16	dbSNP_111	5	4379,3507		1344,1691,908	no	coding-synonymous,coding-synonymous	SETD6	NM_001160305.1,NM_024860.2	,	2554,2272,1102	CC,CT,TT		44.4712,24.4081,37.753	,	89/474,65/450	58549932	7380,4476	1985	3943	5928	SO:0001819	synonymous_variant	79918			AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.265T>C	16.37:g.58549932T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K380|B5ME38|Q9H787	Silent	SNP	ENST00000219315.4	37	CCDS54013.1																																																																																				0.746	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860	
SFTPA1	653509	mdanderson.org	37	10	81371398	81371398	+	Intron	SNP	G	G	A	rs3997773	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:81371398G>A	ENST00000398636.3	+	3	115				SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Splice_Site|SFTPA1_ENST00000419470.2_Splice_Site|SFTPA1_ENST00000428376.2_Intron	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1						lipid transport (GO:0006869)|respiratory gaseous exchange (GO:0007585)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|lipid transporter activity (GO:0005319)			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CAGGTGCCAGGTGATGCTGGG	0.642													g|||	11	0.00219649	0.0053	0.0043	5008	,	,		17545	0.0		0.0	False		,,,				2504	0.001					.											0													28.0	34.0	32.0					10																	81371398		692	1591	2283	SO:0001627	intron_variant	653509			BC026229	CCDS44444.1, CCDS44445.1, CCDS44444.2	10q22.3	2012-11-02	2008-08-26			ENSG00000122852		"""Collectins"""	10798	protein-coding gene	gene with protein product	"""surfactant, pulmonary-associated protein A1A"""	178630	"""surfactant, pulmonary-associated protein A1"""	SFTP1			Standard	NM_001093770		Approved	SP-A, SP-A1, COLEC4	uc009xry.3	Q8IWL2		ENST00000398636.3:c.-23-161G>A	10.37:g.81371398G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8K3T8|B7ZW50|E3VLD8|E3VLD9|E3VLE0|E3VLE1|G5E9J3|P07714|Q14DV4|Q5RIR5|Q5RIR7|Q6PIT0|Q8TC19	Splice_Site	SNP	ENST00000398636.3	37	CCDS44445.1	95	0.043498168498168496	15	0.03048780487804878	10	0.027624309392265192	22	0.038461538461538464	48	0.0633245382585752	g	5.406	0.260129	0.10239	.	.	ENSG00000122852	ENST00000419470	.	.	.	2.71	0.308	0.15815	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.9149	0.13840	0.7088:0.0:0.2912:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SFTPA1	81041404	0.001000	0.12720	0.002000	0.10522	0.161000	0.22273	0.952000	0.29149	0.022000	0.15160	-0.832000	0.03076	.		0.642	SFTPA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_005411	
SGSM3	27352	mdanderson.org	37	22	40802191	40802191	+	Silent	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:40802191G>T	ENST00000248929.9	+	9	1113	c.924G>T	c.(922-924)gtG>gtT	p.V308V	SGSM3_ENST00000454798.2_Silent_p.V241V	NM_015705.4	NP_056520.2			small G protein signaling modulator 3											cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTCCCGGGTGCTGTTCCAGC	0.627																																						.											0													73.0	64.0	67.0					22																	40802191		2203	4300	6503	SO:0001819	synonymous_variant	27352			AL022238	CCDS14002.1	22q13.1-q13.2	2013-07-09	2007-08-14	2007-08-14	ENSG00000100359	ENSG00000100359		"""Small G protein signaling modulators"""	25228	protein-coding gene	gene with protein product	"""RUN and SH3 containing 3"""	610440	"""RUN and TBC1 domain containing 3"""	RUTBC3		11214971, 17509819	Standard	XM_005261572		Approved	DJ1042K10.2, RUSC3, RabGAP-5, RABGAP5	uc003ayu.1	Q96HU1	OTTHUMG00000151141	ENST00000248929.9:c.924G>T	22.37:g.40802191G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000248929.9	37	CCDS14002.1																																																																																				0.627	SGSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321504.2	NM_015705	
SLC17A4	10050	mdanderson.org	37	6	25776845	25776845	+	Missense_Mutation	SNP	C	C	T	rs368361659		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:25776845C>T	ENST00000377905.4	+	9	1129	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	SLC17A4_ENST00000439485.2_Missense_Mutation_p.P107L|SLC17A4_ENST00000397076.2_Missense_Mutation_p.P107L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	337					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)	p.P337R(1)|p.P337Q(1)		breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTGCCTTGCCGTTTGTTGTT	0.507																																						.											2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|lung(1)						C	LEU/PRO	0,4406		0,0,2203	281.0	264.0	270.0		1010	3.8	0.6	6		270	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC17A4	NM_005495.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	337/498	25776845	1,13005	2203	4300	6503	SO:0001583	missense	10050			AB020527	CCDS4564.1, CCDS75411.1	6p22.2	2013-07-18	2013-07-18		ENSG00000146039	ENSG00000146039		"""Solute carriers"""	10932	protein-coding gene	gene with protein product		604216	"""solute carrier family 17 (sodium phosphate), member 4"""			10319585	Standard	NM_005495		Approved	KIAA2138	uc003nfe.3	Q9Y2C5	OTTHUMG00000014410	ENST00000377905.4:c.1010C>T	6.37:g.25776845C>T	ENSP00000367137:p.Pro337Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DDV9|E7EPE8|E7EU17|Q32MB7|Q32MB8	Missense_Mutation	SNP	ENST00000377905.4	37	CCDS4564.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912191	0.72983	0.0	1.16E-4	ENSG00000146039	ENST00000377905;ENST00000439485;ENST00000397076	T;T;T	0.57907	0.41;0.44;0.37	5.63	3.75	0.43078	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.405156	0.21226	N	0.078063	T	0.64103	0.2568	M	0.89658	3.05	0.54753	D	0.999988	P;D;D	0.71674	0.895;0.998;0.973	B;P;D	0.63113	0.299;0.867;0.911	T	0.69243	-0.5196	10	0.66056	D	0.02	.	8.5883	0.33670	0.0:0.8318:0.0:0.1682	.	107;107;337	E7EPE8;E7EU17;Q9Y2C5	.;.;S17A4_HUMAN	L	337;107;107	ENSP00000367137:P337L;ENSP00000391345:P107L;ENSP00000380266:P107L	ENSP00000367137:P337L	P	+	2	0	SLC17A4	25884824	0.985000	0.35326	0.579000	0.28588	0.949000	0.60115	2.671000	0.46842	0.761000	0.33130	0.655000	0.94253	CCG		0.507	SLC17A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040068.1		
SLC25A13	10165	mdanderson.org	37	7	95813628	95813628	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:95813628T>C	ENST00000265631.5	-	11	1274	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	SLC25A13_ENST00000542654.1_Missense_Mutation_p.K272E|SLC25A13_ENST00000416240.2_Missense_Mutation_p.K381E			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	380					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CGTAGCACTTTCTTAAAACAG	0.393																																						.											0													103.0	98.0	100.0					7																	95813628		2203	4300	6503	SO:0001583	missense	10165			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1138A>G	7.37:g.95813628T>C	ENSP00000265631:p.Lys380Glu	Somatic		WXS	Illumina HiSeq	Phase_I	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945440	0.92593	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79845	-1.31;-1.31;-1.31	4.86	4.86	0.63082	Mitochondrial carrier domain (2);	0.110120	0.64402	D	0.000016	D	0.86543	0.5958	L	0.49778	1.585	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.987;0.992;0.992	D	0.88017	0.2766	10	0.87932	D	0	-16.5103	14.9278	0.70893	0.0:0.0:0.0:1.0	.	272;381;380	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	E	380;381;272	ENSP00000265631:K380E;ENSP00000400101:K381E;ENSP00000440484:K272E	ENSP00000265631:K380E	K	-	1	0	SLC25A13	95651564	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.868000	0.87116	2.172000	0.68678	0.533000	0.62120	AAA		0.393	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
SLC45A3	85414	mdanderson.org	37	1	205628616	205628616	+	Missense_Mutation	SNP	C	C	T	rs137949511	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:205628616C>T	ENST00000367145.3	-	5	1703	c.1408G>A	c.(1408-1410)Gta>Ata	p.V470I	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	470					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			ACCACACGTACGGAGACATCA	0.677			T	"""ETV1, ETV5, ELK4, ERG"""	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	21	0.00419329	0.0	0.0043	5008	,	,		18353	0.0		0.0119	False		,,,				2504	0.0061					.		Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	0								C	ILE/VAL	8,4396	14.3+/-33.2	0,8,2194	38.0	38.0	38.0		1408	-1.4	0.4	1	dbSNP_134	38	78,8520	44.5+/-102.8	0,78,4221	yes	missense	SLC45A3	NM_033102.2	29	0,86,6415	TT,TC,CC		0.9072,0.1817,0.6614	benign	470/554	205628616	86,12916	2202	4299	6501	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.1408G>A	1.37:g.205628616C>T	ENSP00000356113:p.Val470Ile	Somatic	2153	WXS	Illumina HiSeq	Phase_I	A8K2U9	Missense_Mutation	SNP	ENST00000367145.3	37	CCDS1458.1	8	0.003663003663003663	0	0.0	1	0.0027624309392265192	0	0.0	7	0.009234828496042216	C	2.983	-0.209897	0.06140	0.001817	0.009072	ENSG00000158715	ENST00000367145	T	0.44482	0.92	5.48	-1.36	0.09085	.	0.387498	0.26341	N	0.024935	T	0.13072	0.0317	N	0.14661	0.345	0.09310	N	1	B	0.22211	0.066	B	0.13407	0.009	T	0.20538	-1.0272	10	0.14656	T	0.56	-17.1135	7.4464	0.27213	0.0:0.4405:0.1634:0.3962	.	470	Q96JT2	S45A3_HUMAN	I	470	ENSP00000356113:V470I	ENSP00000356113:V470I	V	-	1	0	SLC45A3	203895239	0.023000	0.18921	0.369000	0.25952	0.167000	0.22549	-0.027000	0.12371	-0.144000	0.11314	-0.339000	0.08088	GTA		0.677	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090619.1	NM_033102	
SLC7A3	84889	mdanderson.org	37	X	70147758	70147758	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:70147758A>G	ENST00000374299.3	-	6	1077	c.933T>C	c.(931-933)ccT>ccC	p.P311P	SLC7A3_ENST00000298085.4_Silent_p.P311P			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	311					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	arginine transmembrane transporter activity (GO:0015181)|L-lysine transmembrane transporter activity (GO:0015189)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGTAGTAAGGCATCATCA	0.532																																						.											0													118.0	93.0	101.0					X																	70147758		2203	4300	6503	SO:0001819	synonymous_variant	84889			AF320612	CCDS14404.1	Xq12	2013-05-22			ENSG00000165349	ENSG00000165349		"""Solute carriers"""	11061	protein-coding gene	gene with protein product		300443				11591158	Standard	NM_001048164		Approved	CAT-3, ATRC3, FLJ14541	uc004dyn.3	Q8WY07	OTTHUMG00000021780	ENST00000374299.3:c.933T>C	X.37:g.70147758A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DVU7|Q5JQR2|Q8N185|Q8NCA7|Q96SZ7	Silent	SNP	ENST00000374299.3	37	CCDS14404.1																																																																																				0.532	SLC7A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057080.1	NM_032803	
SLC7A7	9056	mdanderson.org	37	14	23243680	23243680	+	Silent	SNP	T	T	C	rs139619724	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:23243680T>C	ENST00000397532.3	-	8	1653	c.1128A>G	c.(1126-1128)gaA>gaG	p.E376E	SLC7A7_ENST00000285850.7_Silent_p.E376E|SLC7A7_ENST00000554517.1_Silent_p.E110E|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397528.4_Silent_p.E376E|SLC7A7_ENST00000397529.2_Silent_p.E376E|SLC7A7_ENST00000555702.1_Silent_p.E376E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	376					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|leukocyte migration (GO:0050900)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GGAAGATGTCTTCCACGCACA	0.473																																						.											0													213.0	201.0	205.0					14																	23243680		2203	4300	6503	SO:0001819	synonymous_variant	9056			AF092032	CCDS9574.1	14q11.2	2014-09-17	2011-07-12		ENSG00000155465	ENSG00000155465		"""Solute carriers"""	11065	protein-coding gene	gene with protein product		603593		LPI		9829974	Standard	NM_001126106		Approved	y+LAT-1	uc001wgs.4	Q9UM01	OTTHUMG00000028692	ENST00000397532.3:c.1128A>G	14.37:g.23243680T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RAU0|D3DS26|O95984|Q53XC1|Q86U07|Q9P2V5	Silent	SNP	ENST00000397532.3	37	CCDS9574.1																																																																																				0.473	SLC7A7-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071636.3		
SLC9A7	84679	mdanderson.org	37	X	46529082	46529082	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:46529082A>G	ENST00000328306.4	-	5	778	c.753T>C	c.(751-753)gaT>gaC	p.D251D		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	251					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AAAAGAGACAATCTGTGTAGT	0.338																																					Pancreas(118;454 1696 1930 13865 39976)	.											0													97.0	84.0	89.0					X																	46529082		2203	4300	6503	SO:0001819	synonymous_variant	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.753T>C	X.37:g.46529082A>G		Somatic		WXS	Illumina HiSeq	Phase_I	O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	CCDS14269.1																																																																																				0.338	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
SLC9B1	150159	mdanderson.org	37	4	103826769	103826769	+	Nonsense_Mutation	SNP	G	G	A	rs200075071		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:103826769G>A	ENST00000296422.7	-	11	1375	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	SLC9B1_ENST00000394789.3_Nonsense_Mutation_p.R412*|SLC9B1_ENST00000512651.2_Intron	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	412					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										GTTAAAATTCGAACACATAAT	0.343																																						.											0													46.0	48.0	48.0					4																	103826769		2200	4294	6494	SO:0001587	stop_gained	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.1234C>T	4.37:g.103826769G>A	ENSP00000296422:p.Arg412*	Somatic		WXS	Illumina HiSeq	Phase_I	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Nonsense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313112	0.81358	.	.	ENSG00000164037	ENST00000394789;ENST00000296422	.	.	.	3.47	2.61	0.31194	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-27.7024	9.543	0.39264	0.0:0.0:0.62:0.38	.	.	.	.	X	412	.	ENSP00000296422:R412X	R	-	1	2	SLC9B1	104046218	0.997000	0.39634	0.506000	0.27664	0.716000	0.41182	2.574000	0.46016	0.760000	0.33108	0.484000	0.47621	CGA		0.343	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
SLC9B1	150159	mdanderson.org	37	4	103870560	103870560	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr4:103870560C>T	ENST00000296422.7	-	4	377	c.236G>A	c.(235-237)tGt>tAt	p.C79Y	SLC9B1_ENST00000394789.3_Missense_Mutation_p.C79Y	NM_139173.3	NP_631912	Q4ZJI4	SL9B1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1	79					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	solute:proton antiporter activity (GO:0015299)										CCAGGTCATACACCATATCAC	0.328																																						.											0													52.0	52.0	52.0					4																	103870560		2173	4291	6464	SO:0001583	missense	150159			AF447585	CCDS34041.1, CCDS47119.1	4q24	2013-05-22	2012-03-22	2011-07-26	ENSG00000164037	ENSG00000164037		"""Solute carriers"""	24244	protein-coding gene	gene with protein product		611527	"""Na+/H+ exchanger domain containing 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1"""	NHEDC1		16850186	Standard	NM_139173		Approved	NHA1	uc003hww.3	Q4ZJI4	OTTHUMG00000161114	ENST00000296422.7:c.236G>A	4.37:g.103870560C>T	ENSP00000296422:p.Cys79Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A1KXV1|B9EH04|C9JBP7|Q49A30|Q8NCV2|Q8WVZ0	Missense_Mutation	SNP	ENST00000296422.7	37	CCDS34041.1	.	.	.	.	.	.	.	.	.	.	C	12.97	2.096865	0.37048	.	.	ENSG00000164037	ENST00000394789;ENST00000296422;ENST00000452285	T;T	0.18338	2.22;2.24	3.71	1.9	0.25705	.	0.621647	0.13757	N	0.364841	T	0.28995	0.0720	M	0.61703	1.905	0.25139	N	0.990519	P;P	0.44627	0.839;0.806	P;P	0.53760	0.734;0.536	T	0.07731	-1.0757	10	0.72032	D	0.01	-2.2718	8.5852	0.33653	0.1443:0.3519:0.5038:0.0	.	79;79	Q4ZJI4;Q4ZJI4-3	SL9B1_HUMAN;.	Y	79	ENSP00000378269:C79Y;ENSP00000296422:C79Y	ENSP00000296422:C79Y	C	-	2	0	SLC9B1	104090009	0.820000	0.29190	0.417000	0.26559	0.034000	0.12701	0.289000	0.18957	0.328000	0.23435	0.555000	0.69702	TGT		0.328	SLC9B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363841.1	NM_139173	
SLITRK4	139065	mdanderson.org	37	X	142716870	142716870	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:142716870A>G	ENST00000381779.4	-	2	2280	c.2055T>C	c.(2053-2055)gcT>gcC	p.A685A	SLITRK4_ENST00000338017.4_Silent_p.A685A|SLITRK4_ENST00000356928.1_Silent_p.A685A	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	685						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAATGAAAGCTTCTGTGC	0.468																																						.											0													120.0	120.0	120.0					X																	142716870		2203	4300	6503	SO:0001819	synonymous_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.2055T>C	X.37:g.142716870A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JXG3|Q8TCM8|Q96DL3	Silent	SNP	ENST00000381779.4	37	CCDS14679.1																																																																																				0.468	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1	NM_173078	
SNRPA	6626	mdanderson.org	37	19	41269564	41269564	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:41269564T>C	ENST00000243563.3	+	5	1223	c.673T>C	c.(673-675)Tcc>Ccc	p.S225P		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	225	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTCATGCTGTCCATGCTTTT	0.567																																						.											0													179.0	155.0	163.0					19																	41269564		2203	4300	6503	SO:0001583	missense	6626			X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.673T>C	19.37:g.41269564T>C	ENSP00000243563:p.Ser225Pro	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000243563.3	37	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798304	0.90538	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.17054	2.3	5.73	5.73	0.89815	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.120404	0.56097	D	0.000023	T	0.50667	0.1629	M	0.91972	3.26	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.60959	-0.7159	10	0.59425	D	0.04	-28.1748	15.0072	0.71522	0.0:0.0:0.0:1.0	.	225	P09012	SNRPA_HUMAN	P	225;146	ENSP00000243563:S225P	ENSP00000243563:S225P	S	+	1	0	SNRPA	45961404	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.644000	0.67902	2.184000	0.69523	0.482000	0.46254	TCC		0.567	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596	
SON	6651	mdanderson.org	37	21	34924913	34924913	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:34924913T>C	ENST00000356577.4	+	3	3851	c.3376T>C	c.(3376-3378)Tct>Cct	p.S1126P	SON_ENST00000300278.4_Missense_Mutation_p.S1126P|SON_ENST00000290239.6_Missense_Mutation_p.S1126P|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.S1126P	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1126	14 X 6 AA repeats of [ED]-R-S-M-M-S.				cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTCAATGATGTCTATGGCTGC	0.473																																						.											0													205.0	167.0	180.0					21																	34924913		2203	4300	6503	SO:0001583	missense	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3376T>C	21.37:g.34924913T>C	ENSP00000348984:p.Ser1126Pro	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869029	0.51588	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.19669	2.29;2.28;2.26;2.13	5.79	5.79	0.91817	.	0.000000	0.50627	D	0.000115	T	0.40595	0.1123	L	0.54323	1.7	0.38795	D	0.955079	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.993;0.997;0.997;0.997	T	0.26087	-1.0113	10	0.45353	T	0.12	.	12.5272	0.56093	0.0:0.0:0.0:1.0	.	1126;1126;807;1126;1126	P18583-10;P18583;P18583-2;P18583-3;P18583-6	.;SON_HUMAN;.;.;.	P	1126	ENSP00000348984:S1126P;ENSP00000290239:S1126P;ENSP00000300278:S1126P;ENSP00000371095:S1126P	ENSP00000290239:S1126P	S	+	1	0	SON	33846783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.046000	0.57376	2.207000	0.71202	0.533000	0.62120	TCT		0.473	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
SOS2	6655	mdanderson.org	37	14	50597336	50597336	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:50597336T>C	ENST00000216373.5	-	20	3494	c.3220A>G	c.(3220-3222)Act>Gct	p.T1074A	SOS2_ENST00000543680.1_Missense_Mutation_p.T1041A	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1074					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCCAGCTCAGTTTCAGCAATC	0.438																																						.											0													198.0	170.0	180.0					14																	50597336		2203	4300	6503	SO:0001583	missense	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3220A>G	14.37:g.50597336T>C	ENSP00000216373:p.Thr1074Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	T	11.81	1.749831	0.30955	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.78364	-1.17;-1.04	5.62	3.28	0.37604	.	0.205916	0.52532	N	0.000080	T	0.52141	0.1716	N	0.14661	0.345	0.36905	D	0.890584	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38735	-0.9647	10	0.12103	T	0.63	.	2.0393	0.03546	0.2436:0.3181:0.0:0.4383	.	1041;1074	B7ZKT6;Q07890	.;SOS2_HUMAN	A	1074;1041	ENSP00000216373:T1074A;ENSP00000445328:T1041A	ENSP00000216373:T1074A	T	-	1	0	SOS2	49667086	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	1.618000	0.36954	0.974000	0.38366	0.397000	0.26171	ACT		0.438	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2		
ST18	9705	mdanderson.org	37	8	53025806	53025806	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr8:53025806T>C	ENST00000276480.7	-	26	3779	c.3096A>G	c.(3094-3096)aaA>aaG	p.K1032K		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	1032					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CCAGTAGAGCTTTGCATTCCG	0.453																																						.											0													173.0	150.0	158.0					8																	53025806		2203	4300	6503	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.3096A>G	8.37:g.53025806T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q17RY1	Silent	SNP	ENST00000276480.7	37	CCDS6149.1																																																																																				0.453	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ST20	400410	mdanderson.org	37	15	80191332	80191332	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:80191332T>C	ENST00000478497.1	-	3	860	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	ST20-MTHFS_ENST00000494999.1_Intron|ST20_ENST00000485386.1_Missense_Mutation_p.T61A|ST20_ENST00000562759.1_Missense_Mutation_p.T61A|MTHFS_ENST00000559722.1_5'Flank|MTHFS_ENST00000258874.3_5'Flank|ST20-MTHFS_ENST00000479961.1_Intron	NM_001100879.1	NP_001094349.1	Q9HBF5	ST20_HUMAN	suppressor of tumorigenicity 20	61					extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)	mitochondrial outer membrane (GO:0005741)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			kidney(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATTAGGCCGGTTTCACAATAT	0.383																																						.											0													117.0	116.0	116.0					15																	80191332		2202	4300	6502	SO:0001583	missense	400410			AF249277	CCDS42067.1	15q25.1	2007-07-16				ENSG00000180953			33520	protein-coding gene	gene with protein product							Standard	NM_001100879		Approved	HCCS-1		Q9HBF5		ENST00000478497.1:c.181A>G	15.37:g.80191332T>C	ENSP00000453502:p.Thr61Ala	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000478497.1	37	CCDS42067.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.997085	0.35226	.	.	ENSG00000180953	ENST00000322484;ENST00000417278	.	.	.	2.09	2.09	0.27110	.	.	.	.	.	T	0.22513	0.0543	.	.	.	0.09310	N	1	P	0.35714	0.517	B	0.27500	0.08	T	0.16335	-1.0406	7	0.87932	D	0	.	6.0481	0.19772	0.0:0.0:0.0:1.0	.	61	Q9HBF5	ST20_HUMAN	A	61	.	ENSP00000319125:T61A	T	-	1	0	ST20	77978387	0.726000	0.28059	0.068000	0.19968	0.711000	0.40976	1.510000	0.35790	0.966000	0.38159	0.172000	0.16884	ACC		0.383	ST20-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416728.2		
STAG3	10734	mdanderson.org	37	7	99783860	99783860	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:99783860A>G	ENST00000426455.1	+	5	781	c.374A>G	c.(373-375)gAc>gGc	p.D125G	STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Missense_Mutation_p.D125G	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	125					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TACAAGCAAGACCAGGATGCA	0.408																																						.											0													197.0	197.0	197.0					7																	99783860		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.374A>G	7.37:g.99783860A>G	ENSP00000400359:p.Asp125Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	ENST00000426455.1	37	CCDS34703.1	.	.	.	.	.	.	.	.	.	.	.	19.08	3.757822	0.69648	.	.	ENSG00000066923	ENST00000426455;ENST00000416412;ENST00000339784;ENST00000317296	T;T	0.29397	1.57;1.57	5.65	5.65	0.86999	.	0.242716	0.28766	N	0.014204	T	0.44435	0.1293	M	0.84219	2.685	0.42783	D	0.993871	B	0.26809	0.16	B	0.35114	0.196	T	0.48647	-0.9017	10	0.72032	D	0.01	-8.7402	13.8254	0.63348	1.0:0.0:0.0:0.0	.	125	Q9UJ98	STAG3_HUMAN	G	125	ENSP00000400359:D125G;ENSP00000319318:D125G	ENSP00000319318:D125G	D	+	2	0	STAG3	99621796	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.284000	0.78650	2.149000	0.67028	0.454000	0.30748	GAC		0.408	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338734.2	NM_012447	
STAT4	6775	mdanderson.org	37	2	191937868	191937868	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:191937868T>C	ENST00000392320.2	-	5	735	c.421A>G	c.(421-423)Agg>Ggg	p.R141G	STAT4_ENST00000358470.4_Missense_Mutation_p.R141G	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	141					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TCCACATTCCTCTGTCTTTCT	0.383																																						.											0													144.0	153.0	150.0					2																	191937868		2203	4300	6503	SO:0001583	missense	6775				CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.421A>G	2.37:g.191937868T>C	ENSP00000376134:p.Arg141Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.967615	0.74131	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.59772	0.24;0.24	5.92	3.43	0.39272	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	0.115942	0.56097	D	0.000033	T	0.58793	0.2147	L	0.53249	1.67	0.80722	D	1	P;P	0.49185	0.92;0.92	P;P	0.47603	0.551;0.551	T	0.60697	-0.7212	10	0.72032	D	0.01	-5.4751	12.9112	0.58181	0.0:0.0:0.2551:0.7449	.	141;141	B4DV04;Q14765	.;STAT4_HUMAN	G	141	ENSP00000351255:R141G;ENSP00000376134:R141G	ENSP00000351255:R141G	R	-	1	2	STAT4	191646113	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	3.428000	0.52792	0.423000	0.26033	0.455000	0.32223	AGG		0.383	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	
STK31	56164	mdanderson.org	37	7	23792342	23792342	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:23792342A>G	ENST00000355870.3	+	9	1143	c.1024A>G	c.(1024-1026)Aag>Gag	p.K342E	STK31_ENST00000354639.3_Missense_Mutation_p.K319E|STK31_ENST00000428484.1_Missense_Mutation_p.K319E|STK31_ENST00000433467.2_Missense_Mutation_p.K342E|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	342						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAGCAAGAGAAGGCAGCTGC	0.378																																						.											0													90.0	87.0	88.0					7																	23792342		2203	4300	6503	SO:0001583	missense	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.1024A>G	7.37:g.23792342A>G	ENSP00000348132:p.Lys342Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Missense_Mutation	SNP	ENST00000355870.3	37	CCDS5386.1	.	.	.	.	.	.	.	.	.	.	A	17.45	3.392194	0.62066	.	.	ENSG00000196335	ENST00000355870;ENST00000433467;ENST00000354639;ENST00000428484	T;T;T;T	0.20598	2.06;2.06;2.06;2.06	4.94	4.94	0.65067	.	0.119862	0.56097	D	0.000027	T	0.42653	0.1212	M	0.66939	2.045	0.39708	D	0.971297	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.43972	-0.9358	10	0.87932	D	0	-18.8545	11.259	0.49071	1.0:0.0:0.0:0.0	.	342;342	B4DZ06;Q9BXU1	.;STK31_HUMAN	E	342;342;319;319	ENSP00000348132:K342E;ENSP00000411852:K342E;ENSP00000346660:K319E;ENSP00000406146:K319E	ENSP00000346660:K319E	K	+	1	0	STK31	23758867	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	4.759000	0.62227	1.983000	0.57843	0.482000	0.46254	AAG		0.378	STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
STON2	85439	mdanderson.org	37	14	81744579	81744579	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:81744579A>G	ENST00000267540.2	-	4	1276	c.1076T>C	c.(1075-1077)cTc>cCc	p.L359P	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.L359P	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	359					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GATGACAATGAGGGAATCTCT	0.453																																						.											0													115.0	119.0	118.0					14																	81744579		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.1076T>C	14.37:g.81744579A>G	ENSP00000267540:p.Leu359Pro	Somatic		WXS	Illumina HiSeq	Phase_I	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	ENST00000267540.2	37	CCDS9875.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.543448	0.45280	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.14640	2.49;2.49	6.17	6.17	0.99709	.	0.247806	0.36815	N	0.002383	T	0.31104	0.0786	L	0.57536	1.79	0.58432	D	0.999996	D;D	0.76494	0.998;0.999	D;D	0.68943	0.915;0.961	T	0.01762	-1.1279	10	0.59425	D	0.04	-25.5864	11.0511	0.47889	0.9315:0.0:0.0685:0.0	.	359;359	Q8WXE9;G3V2T7	STON2_HUMAN;.	P	359;371;359	ENSP00000450857:L359P;ENSP00000267540:L359P	ENSP00000267540:L359P	L	-	2	0	STON2	80814332	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.298000	0.65710	2.371000	0.80710	0.533000	0.62120	CTC		0.453	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
STRADB	55437	mdanderson.org	37	2	202343187	202343187	+	Silent	SNP	G	G	A	rs200083822		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:202343187G>A	ENST00000194530.3	+	10	1298	c.933G>A	c.(931-933)ggG>ggA	p.G311G	STRADB_ENST00000392249.2_Silent_p.G311G	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	311	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|cell morphogenesis (GO:0000902)|insulin receptor signaling pathway (GO:0008286)|JNK cascade (GO:0007254)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TAGACTCTGGGATTGGAGAAA	0.423																																						.											0													76.0	72.0	73.0					2																	202343187		2203	4300	6503	SO:0001819	synonymous_variant	55437			AB038950	CCDS2348.1, CCDS56161.1	2q33.1	2010-09-30	2008-09-15	2008-09-15	ENSG00000082146	ENSG00000082146			13205	protein-coding gene	gene with protein product		607333	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 2"""	ALS2CR2		11161814, 14511394	Standard	NM_018571		Approved	CALS-21, PAPK, ILPIPA, ILPIP	uc002uyd.4	Q9C0K7	OTTHUMG00000132831	ENST00000194530.3:c.933G>A	2.37:g.202343187G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q5BKY7|Q9P1L0	Silent	SNP	ENST00000194530.3	37	CCDS2348.1																																																																																				0.423	STRADB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256297.1	NM_018571	
TAS2R43	259289	mdanderson.org	37	12	11244166	11244166	+	Silent	SNP	G	G	C	rs35720106	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:11244166G>C	ENST00000531678.1	-	1	746	c.663C>G	c.(661-663)acC>acG	p.T221T	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	221					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)	p.T221T(1)		endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTGGACCTTGGTGCTGGGAT	0.398													.|||	3199	0.638778	0.1218	0.7205	5008	,	,		13366	0.9405		0.7793	False		,,,				2504	0.8241					.											1	Substitution - coding silent(1)	prostate(1)											130.0	112.0	118.0					12																	11244166		2176	4249	6425	SO:0001819	synonymous_variant	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.663C>G	12.37:g.11244166G>C		Somatic		WXS	Illumina HiSeq	Phase_I	P59546|Q645X4	Silent	SNP	ENST00000531678.1	37	CCDS53749.1																																																																																				0.398	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884	
TAS2R43	259289	mdanderson.org	37	12	11244194	11244194	+	Missense_Mutation	SNP	T	T	C	rs71443637	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:11244194T>C	ENST00000531678.1	-	1	718	c.635A>G	c.(634-636)cAt>cGt	p.H212R	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	212				H -> R (in Ref. 1; AAM19328, 3; AAU21145 and 5; AAI17424). {ECO:0000305}.	detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCCTTTACCATGGAGCTGCAT	0.408													.|||	3114	0.621805	0.0998	0.7104	5008	,	,		13446	0.9425		0.7525	False		,,,				2504	0.7996					.											0													123.0	99.0	107.0					12																	11244194		2155	4165	6320	SO:0001583	missense	259289			AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.635A>G	12.37:g.11244194T>C	ENSP00000431719:p.His212Arg	Somatic		WXS	Illumina HiSeq	Phase_I	P59546|Q645X4	Missense_Mutation	SNP	ENST00000531678.1	37	CCDS53749.1	949	0.43452380952380953	28	0.056910569105691054	163	0.45027624309392267	439	0.7674825174825175	319	0.420844327176781	-	2.129	-0.399500	0.04865	.	.	ENSG00000255374	ENST00000531678	T	0.00737	5.76	1.45	-1.32	0.09201	.	.	.	.	.	T	0.00012	0.0000	M	0.86178	2.8	0.80722	P	0.0	.	.	.	.	.	.	T	0.07028	-1.0794	6	0.52906	T	0.07	.	4.3248	0.11034	0.0:0.4339:0.0:0.5661	.	.	.	.	R	212	ENSP00000431719:H212R	ENSP00000431719:H212R	H	-	2	0	TAS2R43	11135461	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.381000	0.07417	-0.374000	0.07967	-1.273000	0.01405	CAT		0.408	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	NM_176884	
TAS2R4	50832	mdanderson.org	37	7	141478814	141478814	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:141478814T>C	ENST00000247881.2	+	1	573	c.526T>C	c.(526-528)Tct>Cct	p.S176P	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	176					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		GGGCATCTTGTCTTTAGTGGT	0.418																																						.											0													255.0	250.0	252.0					7																	141478814		2203	4300	6503	SO:0001583	missense	50832			AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.526T>C	7.37:g.141478814T>C	ENSP00000247881:p.Ser176Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	t	4.845	0.157147	0.09236	.	.	ENSG00000127364	ENST00000247881	T	0.37584	1.19	5.31	-2.53	0.06326	.	0.838765	0.10689	N	0.645469	T	0.31544	0.0800	M	0.64997	1.995	0.09310	N	1	B	0.18013	0.025	B	0.28139	0.086	T	0.45056	-0.9287	10	0.62326	D	0.03	.	4.0257	0.09687	0.2579:0.3855:0.0:0.3567	.	176	Q9NYW5	TA2R4_HUMAN	P	176	ENSP00000247881:S176P	ENSP00000247881:S176P	S	+	1	0	TAS2R4	141125283	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.350000	0.07721	-0.263000	0.09378	-0.282000	0.10007	TCT		0.418	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1		
TBC1D26	353149	mdanderson.org	37	17	15642054	15642054	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr17:15642054A>G	ENST00000437605.2	+	8	657	c.407A>G	c.(406-408)aAg>aGg	p.K136R	ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.K136R|AC005324.6_ENST00000580194.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	136	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		GAGAAGGGCAAGAGGTCCTCC	0.522																																						.											0													118.0	116.0	117.0					17																	15642054		2201	4295	6496	SO:0001583	missense	353149				CCDS42265.1	17p11.2	2008-11-04			ENSG00000214946	ENSG00000214946			28745	protein-coding gene	gene with protein product						11347906	Standard	NM_178571		Approved	MGC51025	uc010cov.3	Q86UD7	OTTHUMG00000059071	ENST00000437605.2:c.407A>G	17.37:g.15642054A>G	ENSP00000410111:p.Lys136Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A8K929|Q4G172	Missense_Mutation	SNP	ENST00000437605.2	37	CCDS42265.1	.	.	.	.	.	.	.	.	.	.	a	0.124	-1.122408	0.01785	.	.	ENSG00000214946	ENST00000437605	T	0.33216	1.42	1.44	-1.49	0.08718	Rab-GAP/TBC domain (4);	0.556946	0.16549	N	0.209565	T	0.33265	0.0857	L	0.46614	1.455	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.78314	0.988;0.991	T	0.35525	-0.9785	10	0.07030	T	0.85	.	4.0277	0.09695	0.5255:0.0:0.4745:0.0	.	136;136	Q86UD7;Q86UD7-2	TBC26_HUMAN;.	R	136	ENSP00000410111:K136R	ENSP00000410111:K136R	K	+	2	0	TBC1D26	15582779	0.056000	0.20664	0.002000	0.10522	0.010000	0.07245	0.671000	0.25172	-0.101000	0.12219	-0.526000	0.04340	AAG		0.522	TBC1D26-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178571	
TCEAL2	140597	mdanderson.org	37	X	101382406	101382406	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:101382406T>C	ENST00000372780.1	+	3	823	c.604T>C	c.(604-606)Ttc>Ctc	p.F202L	TCEAL2_ENST00000329035.2_Missense_Mutation_p.F202L	NM_080390.3	NP_525129.1	Q9H3H9	TCAL2_HUMAN	transcription elongation factor A (SII)-like 2	202					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						ACAGGACCCCTTCTATCCTAG	0.483																																						.											0													85.0	90.0	88.0					X																	101382406		2200	4288	6488	SO:0001583	missense	140597			AF325115	CCDS14496.1	Xq22.1-q22.3	2014-03-21			ENSG00000184905	ENSG00000184905			29818	protein-coding gene	gene with protein product						16221301	Standard	NM_080390		Approved	my048, MY0876G05, WEX1	uc004eip.3	Q9H3H9	OTTHUMG00000022048	ENST00000372780.1:c.604T>C	X.37:g.101382406T>C	ENSP00000361866:p.Phe202Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5C7	Missense_Mutation	SNP	ENST00000372780.1	37	CCDS14496.1	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894753	0.72639	.	.	ENSG00000184905	ENST00000372780;ENST00000329035	T;T	0.08458	3.09;3.09	3.32	3.32	0.38043	.	0.148040	0.31772	N	0.007093	T	0.08802	0.0218	L	0.52011	1.625	0.09310	N	1	B	0.28291	0.206	B	0.32724	0.151	T	0.19712	-1.0297	10	0.33141	T	0.24	.	7.3385	0.26623	0.0:0.0:0.0:1.0	.	202	Q9H3H9	TCAL2_HUMAN	L	202	ENSP00000361866:F202L;ENSP00000332359:F202L	ENSP00000332359:F202L	F	+	1	0	TCEAL2	101269062	0.009000	0.17119	0.004000	0.12327	0.920000	0.55202	2.184000	0.42575	1.544000	0.49359	0.481000	0.45027	TTC		0.483	TCEAL2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057605.1	NM_080390	
TECPR2	9895	mdanderson.org;bcgsc.ca	37	14	102910140	102910140	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:102910140A>G	ENST00000359520.7	+	12	3135	c.2909A>G	c.(2908-2910)gAg>gGg	p.E970G	TECPR2_ENST00000558678.1_Missense_Mutation_p.E970G	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	970					autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CCGGAAGGCGAGCAGTGGAAG	0.592																																						.											0													77.0	65.0	69.0					14																	102910140		2203	4300	6503	SO:0001583	missense	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.2909A>G	14.37:g.102910140A>G	ENSP00000352510:p.Glu970Gly	Somatic		WXS	Illumina HiSeq	Phase_I	A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	Missense_Mutation	SNP	ENST00000359520.7	37	CCDS32162.1	.	.	.	.	.	.	.	.	.	.	A	33	5.289755	0.95546	.	.	ENSG00000196663	ENST00000359520	T	0.80304	-1.36	5.61	5.61	0.85477	.	0.106561	0.64402	D	0.000007	D	0.82926	0.5143	N	0.19112	0.55	0.58432	D	0.999995	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.81914	0.962;0.994;0.995	D	0.85590	0.1245	10	0.66056	D	0.02	.	16.1025	0.81194	1.0:0.0:0.0:0.0	.	153;970;970	B4DSD3;A5PKY3;O15040	.;.;TCPR2_HUMAN	G	970	ENSP00000352510:E970G	ENSP00000352510:E970G	E	+	2	0	TECPR2	101979893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.287000	0.95975	2.254000	0.74563	0.533000	0.62120	GAG		0.592	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415056.2	NM_014844	
TLR7	51284	mdanderson.org	37	X	12905178	12905178	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:12905178T>C	ENST00000380659.3	+	3	1690	c.1551T>C	c.(1549-1551)tcT>tcC	p.S517S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	517					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	AGCATCTTTCTTTCCTCAAAT	0.378																																						.											0													123.0	131.0	128.0					X																	12905178		2203	4300	6503	SO:0001819	synonymous_variant	51284			AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1551T>C	X.37:g.12905178T>C		Somatic		WXS	Illumina HiSeq	Phase_I	D1CS69|Q9NR98	Silent	SNP	ENST00000380659.3	37	CCDS14151.1																																																																																				0.378	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
TMEM117	84216	mdanderson.org	37	12	44338122	44338122	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:44338122T>C	ENST00000266534.3	+	3	514	c.387T>C	c.(385-387)atT>atC	p.I129I	TMEM117_ENST00000536799.1_Missense_Mutation_p.S59P|TMEM117_ENST00000551577.1_Silent_p.I129I	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	129						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		ACAACACGATTCTTCTAATGG	0.363																																						.											0													220.0	204.0	209.0					12																	44338122		2203	4300	6503	SO:0001819	synonymous_variant	84216			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.387T>C	12.37:g.44338122T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000266534.3	37	CCDS8745.1	.	.	.	.	.	.	.	.	.	.	T	14.60	2.583223	0.46006	.	.	ENSG00000139173	ENST00000536799	.	.	.	5.51	4.38	0.52667	.	.	.	.	.	T	0.31949	0.0813	.	.	.	0.25650	N	0.986101	B	0.02656	0.0	B	0.01281	0.0	T	0.27872	-1.0061	7	0.87932	D	0	-9.6711	6.1317	0.20209	0.0:0.2452:0.0:0.7548	.	59	F5H3Q2	.	P	59	.	ENSP00000445243:S59P	S	+	1	0	TMEM117	42624389	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	1.286000	0.33273	1.041000	0.40125	0.482000	0.46254	TCT		0.363	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403969.1	NM_032256	
TMPRSS15	5651	mdanderson.org	37	21	19726118	19726118	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:19726118A>G	ENST00000284885.3	-	9	976	c.943T>C	c.(943-945)Ttt>Ctt	p.F315L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	315	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCTATAAGAAAGGTGGCAGTA	0.294																																						.											0													68.0	73.0	71.0					21																	19726118		2203	4289	6492	SO:0001583	missense	5651				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.943T>C	21.37:g.19726118A>G	ENSP00000284885:p.Phe315Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.226273	0.79576	.	.	ENSG00000154646	ENST00000284885	T	0.33654	1.4	4.46	4.46	0.54185	CUB (5);	0.000000	0.64402	D	0.000001	T	0.45597	0.1350	L	0.55103	1.725	0.47341	D	0.999396	P	0.52692	0.955	P	0.54060	0.741	T	0.36359	-0.9751	9	.	.	.	.	12.7079	0.57073	1.0:0.0:0.0:0.0	.	315	P98073	ENTK_HUMAN	L	315	ENSP00000284885:F315L	.	F	-	1	0	TMPRSS15	18647989	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	5.657000	0.67996	1.878000	0.54408	0.454000	0.30748	TTT		0.294	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
TPTE2	93492	mdanderson.org	37	13	20056686	20056686	+	Splice_Site	SNP	T	T	C	rs201542496		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313																																						.											0													47.0	46.0	47.0					13																	20056686		2202	4298	6500	SO:0001630	splice_region_variant	93492			AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.120-1A>G	13.37:g.20056686T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Missense_Mutation	SNP	ENST00000400230.2	37	CCDS45014.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.805163	0.00075	.	.	ENSG00000132958	ENST00000382978;ENST00000400103;ENST00000400230;ENST00000382977;ENST00000382975;ENST00000457266;ENST00000343548	D;D;D;D;D;D	0.94376	-3.41;-3.33;-3.28;-3.28;-3.41;-3.33	2.06	0.838	0.18902	.	0.589765	0.15086	U	0.281346	D	0.83399	0.5246	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.68424	-0.5412	9	.	.	.	0.2742	3.9369	0.09310	0.0:0.1886:0.0:0.8114	.	41;41	A8MX64;Q6XPS3	.;TPTE2_HUMAN	V	41	ENSP00000372438:M41V;ENSP00000382974:M41V;ENSP00000383089:M41V;ENSP00000372437:M41V;ENSP00000372435:M41V;ENSP00000442218:M41V	.	M	-	1	0	TPTE2	18954686	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.105000	0.10907	0.235000	0.21160	0.383000	0.25322	ATG		0.313	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254	Missense_Mutation
TRIM34	53840	mdanderson.org	37	11	5662452	5662452	+	Intron	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:5662452A>G	ENST00000514226.1	+	5	1110				TRIM34_ENST00000429814.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Intron|TRIM34_ENST00000495668.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Intron	NM_001003827.1	NP_001003827.1	Q9BYJ4	TRI34_HUMAN	tripartite motif containing 34						positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	17		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;5.72e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTGCTTGTGAGTTATAAAGA	0.363																																						.											0													157.0	149.0	152.0					11																	5662452		2201	4297	6498	SO:0001627	intron_variant	53840			AB039902	CCDS31391.1	11p15	2013-01-09	2011-01-25	2001-11-23		ENSG00000258659		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10063	protein-coding gene	gene with protein product		605684	"""tripartite motif-containing 34"""	RNF21			Standard	NM_130390		Approved			Q9BYJ4	OTTHUMG00000066892	ENST00000514226.1:c.773+33A>G	11.37:g.5662452A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DQS7|Q9C016|Q9HCR0|Q9HCR1|Q9HCR2	Missense_Mutation	SNP	ENST00000514226.1	37	CCDS31391.1																																																																																				0.363	TRIM34-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143357.2	NM_001003827	
TRIOBP	11078	mdanderson.org	37	22	38120196	38120196	+	Missense_Mutation	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr22:38120196G>A	ENST00000406386.3	+	7	1888	c.1633G>A	c.(1633-1635)Gca>Aca	p.A545T		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	545					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CAATAGAGCTGCACGAGACAA	0.587																																						.											0													128.0	190.0	170.0					22																	38120196		1980	4183	6163	SO:0001583	missense	11078			AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1633G>A	22.37:g.38120196G>A	ENSP00000384312:p.Ala545Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	2.684	-0.274763	0.05679	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19669	2.13	1.99	-0.779	0.10973	.	.	.	.	.	T	0.04272	0.0118	N	0.00926	-1.1	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30851	-0.9964	9	0.02654	T	1	.	2.2642	0.04075	0.4294:0.0:0.3343:0.2363	.	545	Q9H2D6	TARA_HUMAN	T	545	ENSP00000384312:A545T	ENSP00000384312:A545T	A	+	1	0	TRIOBP	36450142	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.355000	0.07671	-1.084000	0.03092	-1.958000	0.00481	GCA		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
TRIP11	9321	mdanderson.org	37	14	92470021	92470021	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:92470021T>C	ENST00000267622.4	-	11	4672	c.4299A>G	c.(4297-4299)aaA>aaG	p.K1433K		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1433					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTTCATTTACTTTGTTAGTGA	0.323			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													101.0	99.0	99.0					14																	92470021		2202	4298	6500	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.4299A>G	14.37:g.92470021T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RUT2|O14689|O15154|O95949	Silent	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	T	2.653	-0.281497	0.05642	.	.	ENSG00000100815	ENST00000554357	.	.	.	5.39	-1.36	0.09085	.	.	.	.	.	T	0.58278	0.2111	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53697	-0.8402	4	.	.	.	.	11.8569	0.52441	0.0:0.1665:0.0:0.8335	.	.	.	.	G	1149	.	.	S	-	1	0	TRIP11	91539774	0.994000	0.37717	0.056000	0.19401	0.516000	0.34256	0.221000	0.17680	-0.510000	0.06523	0.379000	0.24179	AGT		0.323	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
TRO	7216	mdanderson.org	37	X	54955088	54955088	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:54955088A>G	ENST00000173898.7	+	12	2043	c.1931A>G	c.(1930-1932)gAg>gGg	p.E644G	TRO_ENST00000375041.2_Missense_Mutation_p.E247G|TRO_ENST00000319167.8_Missense_Mutation_p.E644G|TRO_ENST00000399736.1_Missense_Mutation_p.E247G|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000375022.4_Missense_Mutation_p.E644G|TRO_ENST00000420798.2_Missense_Mutation_p.E175G	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	644					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GAGGCAGTGGAGATGGAAGTC	0.542																																						.											0													45.0	51.0	49.0					X																	54955088		2132	4239	6371	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1931A>G	X.37:g.54955088A>G	ENSP00000173898:p.Glu644Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	A	13.22	2.172525	0.38315	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.08546	3.8;3.57;3.57;3.43;3.08;3.44	2.99	2.99	0.34606	.	.	.	.	.	T	0.16896	0.0406	L	0.46157	1.445	0.36622	D	0.875822	B;D;D;B	0.71674	0.259;0.998;0.998;0.259	B;D;D;B	0.75484	0.047;0.968;0.986;0.143	T	0.10222	-1.0639	9	0.72032	D	0.01	.	4.2402	0.10645	0.8402:0.0:0.1597:0.0	.	247;247;644;644	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	G	644;644;644;247;247;175;247	ENSP00000173898:E644G;ENSP00000318278:E644G;ENSP00000364162:E644G;ENSP00000382641:E247G;ENSP00000405126:E175G;ENSP00000364181:E247G	ENSP00000173898:E644G	E	+	2	0	TRO	54971813	1.000000	0.71417	1.000000	0.80357	0.848000	0.48234	4.303000	0.59098	1.422000	0.47177	0.441000	0.28932	GAG		0.542	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157	
UBN2	254048	mdanderson.org	37	7	138960858	138960858	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr7:138960858A>G	ENST00000473989.3	+	12	1989	c.1989A>G	c.(1987-1989)gaA>gaG	p.E663E	UBN2_ENST00000288561.8_Silent_p.E580E	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	663						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TTTTTAAGGAAAGCCGGAGTG	0.279																																						.											0													84.0	78.0	80.0					7																	138960858		1810	4069	5879	SO:0001819	synonymous_variant	254048			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.1989A>G	7.37:g.138960858A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Silent	SNP	ENST00000473989.3	37	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	A	9.378	1.072307	0.20147	.	.	ENSG00000157741	ENST00000483726	.	.	.	5.77	5.77	0.91146	.	.	.	.	.	T	0.62938	0.2469	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62324	-0.6878	4	.	.	.	-19.1931	10.4303	0.44403	0.9274:0.0:0.0726:0.0	.	.	.	.	R	432	.	.	K	+	2	0	UBN2	138611398	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.712000	0.37940	2.196000	0.70406	0.528000	0.53228	AAA		0.279	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3	NM_173569	
UGT1A9	54600	mdanderson.org	37	2	234581157	234581157	+	Missense_Mutation	SNP	A	A	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:234581157A>C	ENST00000354728.4	+	1	659	c.577A>C	c.(577-579)Att>Ctt	p.I193L	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.I193L|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron			O60656	UD19_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A9	193					cellular glucuronidation (GO:0052695)|cellular lipid metabolic process (GO:0044255)|drug metabolic process (GO:0017144)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|small molecule metabolic process (GO:0044281)|xenobiotic glucuronidation (GO:0052697)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)			breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)	Acetaminophen(DB00316)|Buprenorphine(DB00921)|Canagliflozin(DB08907)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Entacapone(DB00494)|Etodolac(DB00749)|Ezogabine(DB04953)|Flurbiprofen(DB00712)|Haloperidol(DB00502)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ketobemidone(DB06738)|Lumiracoxib(DB01283)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Nateglinide(DB00731)|Niflumic Acid(DB04552)|Oxazepam(DB00842)|Propofol(DB00818)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sulfamethoxazole(DB01015)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zileuton(DB00744)	TGTCCCCAGAATTCTCTTAGG	0.468																																						.											0													156.0	165.0	162.0					2																	234581157		2203	4297	6500	SO:0001583	missense	54600			AF056188	CCDS2505.1	2q37	2010-03-05	2005-07-20		ENSG00000241119	ENSG00000241119		"""UDP glucuronosyltransferases"""	12541	other	complex locus constituent		606434	"""UDP glycosyltransferase 1 family, polypeptide A9"""			9295054, 1910331	Standard	NM_021027		Approved	HLUGP4, LUGP4, UGT1AI		O60656	OTTHUMG00000059124	ENST00000354728.4:c.577A>C	2.37:g.234581157A>C	ENSP00000346768:p.Ile193Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B8K285|P36509|Q9HAX0	Missense_Mutation	SNP	ENST00000354728.4	37	CCDS2505.1	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.771680	0.00645	.	.	ENSG00000241119	ENST00000354728	T	0.59224	0.28	3.41	-6.83	0.01693	.	.	.	.	.	T	0.22936	0.0554	N	0.02960	-0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.13629	-1.0502	9	0.13470	T	0.59	.	5.5972	0.17333	0.4182:0.4051:0.0932:0.0834	.	193;193	Q5DSZ5;O60656	.;UD19_HUMAN	L	193	ENSP00000346768:I193L	ENSP00000346768:I193L	I	+	1	0	UGT1A9	234245896	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-10.910000	0.00005	-3.181000	0.00222	-0.690000	0.03725	ATT		0.468	UGT1A9-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130995.1	NM_021027	
UNC79	57578	mdanderson.org	37	14	94160698	94160698	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr14:94160698T>C	ENST00000393151.2	+	48	7605	c.7605T>C	c.(7603-7605)tgT>tgC	p.C2535C	UNC79_ENST00000256339.4_Silent_p.C2358C|UNC79_ENST00000555664.1_Silent_p.C2496C|UNC79_ENST00000553484.1_Silent_p.C2557C			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2535					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAATGGTGTGTCTCCATGTGA	0.373																																						.											0													179.0	167.0	171.0					14																	94160698		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.7605T>C	14.37:g.94160698T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.373	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
UNC93A	54346	mdanderson.org	37	6	167728774	167728774	+	Missense_Mutation	SNP	T	T	C	rs663606|rs71545154	byFrequency	TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:167728774T>C	ENST00000230256.3	+	8	1383	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	UNC93A_ENST00000366829.2_Missense_Mutation_p.M361T	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	403			M -> I (in dbSNP:rs9459921).|M -> T (in dbSNP:rs663606). {ECO:0000269|PubMed:12381271}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGTACAGCATGTTTTTGTGC	0.577													C|||	3911	0.78095	0.9599	0.5865	5008	,	,		16443	0.8085		0.6252	False		,,,				2504	0.8088					.											0													85.0	139.0	121.0					6																	167728774		2203	4293	6496	SO:0001583	missense	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1208T>C	6.37:g.167728774T>C	ENSP00000230256:p.Met403Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRP5|Q4QQJ4|Q5JZD6	Missense_Mutation	SNP	ENST00000230256.3	37	CCDS5300.1	1388	0.6355311355311355	393	0.7987804878048781	189	0.5220994475138122	411	0.7185314685314685	395	0.521108179419525	C	0	-2.720806	0.00092	.	.	ENSG00000112494	ENST00000230256;ENST00000366829	T;T	0.79940	-1.32;-1.32	3.86	2.97	0.34412	Major facilitator superfamily domain, general substrate transporter (1);	0.177325	0.48286	N	0.000189	T	0.13756	0.0333	N	0.00026	-2.67	0.80722	P	0.0	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12167	-1.0558	9	0.08837	T	0.75	-2.8542	9.2044	0.37280	0.0:0.814:0.0:0.186	rs663606;rs7759897;rs58365775	361;403	Q4QQJ4;Q86WB7	.;UN93A_HUMAN	T	403;361	ENSP00000230256:M403T;ENSP00000355794:M361T	ENSP00000230256:M403T	M	+	2	0	UNC93A	167648764	0.266000	0.24112	0.055000	0.19348	0.010000	0.07245	0.526000	0.22971	0.255000	0.21593	-0.355000	0.07637	ATG		0.577	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043125.2	NM_018974	
UQCRFS1	7386	mdanderson.org	37	19	29699033	29699033	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:29699033T>C	ENST00000304863.4	-	2	669	c.247A>G	c.(247-249)Atc>Gtc	p.I83V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	83					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.I83V(4)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GGCACCTTGATGTCTGTGTGG	0.423																																						.											4	Substitution - Missense(4)	endometrium(2)|kidney(2)											53.0	59.0	57.0					19																	29699033		2203	4299	6502	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.247A>G	19.37:g.29699033T>C	ENSP00000306397:p.Ile83Val	Somatic		WXS	Illumina HiSeq	Phase_I	A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	ENST00000304863.4	37	CCDS12415.1	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.596233	0.00857	.	.	ENSG00000169021	ENST00000304863	T	0.42131	0.98	5.42	-4.98	0.03019	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.618499	0.17385	N	0.176150	T	0.22360	0.0539	N	0.16862	0.45	0.20764	N	0.999851	B	0.02656	0.0	B	0.14578	0.011	T	0.23976	-1.0173	10	0.08837	T	0.75	.	17.2071	0.86921	0.0:0.6778:0.0:0.3222	.	83	P47985	UCRI_HUMAN	V	83	ENSP00000306397:I83V	ENSP00000306397:I83V	I	-	1	0	UQCRFS1	34390873	0.987000	0.35691	0.084000	0.20598	0.009000	0.06853	0.184000	0.16939	-1.243000	0.02519	-3.117000	0.00062	ATC		0.423	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458563.1	NM_006003	
USP33	23032	mdanderson.org	37	1	78177501	78177501	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:78177501A>G	ENST00000370793.1	-	22	2776	c.2430T>C	c.(2428-2430)tgT>tgC	p.C810C	USP33_ENST00000370792.3_Silent_p.C802C|USP33_ENST00000357428.1_Silent_p.C810C|USP33_ENST00000370794.3_Silent_p.C779C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	810	DUSP 1. {ECO:0000255|PROSITE- ProRule:PRU00613}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|centrosome duplication (GO:0051298)|endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell body (GO:0044297)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|VCB complex (GO:0030891)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GGCAAGTATGACAAATGTACA	0.318																																					Melanoma(152;72 1870 11110 26780 42647)	.											0													39.0	42.0	41.0					1																	78177501		2203	4299	6502	SO:0001819	synonymous_variant	23032			AF383173	CCDS678.1, CCDS679.1, CCDS680.1	1p31	2008-02-05	2005-08-08		ENSG00000077254	ENSG00000077254		"""Ubiquitin-specific peptidases"""	20059	protein-coding gene	gene with protein product		615146	"""ubiquitin specific protease 33"""			12838346	Standard	NM_015017		Approved	KIAA1097, VDU1	uc001dht.4	Q8TEY7	OTTHUMG00000009651	ENST00000370793.1:c.2430T>C	1.37:g.78177501A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8TEY6|Q96AV6|Q9H9F0|Q9UPQ5	Silent	SNP	ENST00000370793.1	37	CCDS678.1	.	.	.	.	.	.	.	.	.	.	A	9.652	1.141738	0.21205	.	.	ENSG00000077254	ENST00000481579	.	.	.	5.37	1.67	0.24075	.	.	.	.	.	T	0.43299	0.1241	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33007	-0.9885	4	.	.	.	.	8.8392	0.35131	0.6413:0.0:0.3587:0.0	.	.	.	.	A	415	.	.	V	-	2	0	USP33	77950089	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.248000	0.43160	0.392000	0.25172	0.533000	0.62120	GTC		0.318	USP33-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000026923.2	NM_015017	
VPS35	55737	mdanderson.org	37	16	46702912	46702912	+	Missense_Mutation	SNP	C	C	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr16:46702912C>T	ENST00000299138.7	-	13	1635	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H		NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	526				R -> G (in Ref. 5; BAA91790). {ECO:0000305}.	cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CAGTGTGAAGCGAATCCGCTG	0.363																																						.											0													89.0	98.0	95.0					16																	46702912		2203	4300	6503	SO:0001583	missense	55737			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.1577G>A	16.37:g.46702912C>T	ENSP00000299138:p.Arg526His	Somatic		WXS	Illumina HiSeq	Phase_I	Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	ENST00000299138.7	37	CCDS10721.1	.	.	.	.	.	.	.	.	.	.	.	35	5.579135	0.96565	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.45668	0.89	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.59500	0.2198	M	0.83603	2.65	0.80722	D	1	D;D	0.63046	0.987;0.992	P;P	0.50490	0.642;0.476	T	0.63681	-0.6582	10	0.44086	T	0.13	-10.298	19.5023	0.95100	0.0:1.0:0.0:0.0	.	526;391	Q96QK1;F5GYF5	VPS35_HUMAN;.	H	526;391	ENSP00000299138:R526H	ENSP00000299138:R526H	R	-	2	0	VPS35	45260413	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.786000	0.85741	2.605000	0.88082	0.591000	0.81541	CGC		0.363	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255742.3		
WBP11	51729	mdanderson.org	37	12	14940061	14940061	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr12:14940061A>G	ENST00000261167.2	-	12	2097	c.1864T>C	c.(1864-1866)Tca>Cca	p.S622P		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	622					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein phosphatase type 1 regulator activity (GO:0008599)|single-stranded DNA binding (GO:0003697)|WW domain binding (GO:0050699)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						GTTTGTACTGAGACAGGAACA	0.468																																						.											0													61.0	60.0	60.0					12																	14940061		2203	4298	6501	SO:0001583	missense	51729			AB029309	CCDS8666.1	12p12.3	2014-06-13			ENSG00000084463	ENSG00000084463			16461	protein-coding gene	gene with protein product	"""splicing factor, PQBP1 and PP1 interacting"", ""protein phosphatase 1, regulatory subunit 165"""					10593949	Standard	NM_016312		Approved	NPWBP, SIPP1, PPP1R165	uc001rci.3	Q9Y2W2	OTTHUMG00000168737	ENST00000261167.2:c.1864T>C	12.37:g.14940061A>G	ENSP00000261167:p.Ser622Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q96AY8	Missense_Mutation	SNP	ENST00000261167.2	37	CCDS8666.1	.	.	.	.	.	.	.	.	.	.	A	11.77	1.737614	0.30774	.	.	ENSG00000084463	ENST00000261167;ENST00000537574	.	.	.	5.1	3.95	0.45737	.	0.357152	0.25478	N	0.030384	T	0.39545	0.1082	L	0.38838	1.175	0.32352	N	0.558285	B	0.30824	0.296	B	0.38156	0.266	T	0.51108	-0.8747	9	0.52906	T	0.07	-15.5057	6.5889	0.22636	0.8174:0.0:0.1826:0.0	.	622	Q9Y2W2	WBP11_HUMAN	P	622;588	.	ENSP00000261167:S622P	S	-	1	0	WBP11	14831328	0.999000	0.42202	0.863000	0.33907	0.986000	0.74619	2.169000	0.42434	0.971000	0.38288	-0.290000	0.09829	TCA		0.468	WBP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400850.1	NM_016312	
ZBTB21	49854	mdanderson.org	37	21	43411206	43411206	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr21:43411206T>C	ENST00000310826.5	-	3	3182	c.2999A>G	c.(2998-3000)gAg>gGg	p.E1000G	ZBTB21_ENST00000398505.3_Missense_Mutation_p.E799G|ZBTB21_ENST00000465968.1_5'Flank|ZBTB21_ENST00000398499.1_Missense_Mutation_p.E1000G|ZBTB21_ENST00000398511.3_Missense_Mutation_p.E1000G	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	1000					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)										GCTGTCAGGCTCCAGAGGCTG	0.572																																						.											0													78.0	86.0	83.0					21																	43411206		2203	4300	6503	SO:0001583	missense	49854			AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.2999A>G	21.37:g.43411206T>C	ENSP00000308759:p.Glu1000Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5R2W1|Q5R2W2|Q6P4R0	Missense_Mutation	SNP	ENST00000310826.5	37	CCDS13678.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212603	0.58452	.	.	ENSG00000173276	ENST00000398505;ENST00000310826;ENST00000398499;ENST00000398511	T;T;T;T	0.08370	3.42;3.1;3.1;3.1	5.5	5.5	0.81552	.	0.531808	0.18360	N	0.143585	T	0.06188	0.0160	N	0.19112	0.55	0.58432	D	0.999996	B;P	0.35328	0.112;0.495	B;B	0.28465	0.02;0.09	T	0.49707	-0.8911	10	0.25106	T	0.35	-19.2238	15.6171	0.76775	0.0:0.0:0.0:1.0	.	799;1000	Q9ULJ3-2;Q9ULJ3	.;ZN295_HUMAN	G	799;1000;1000;1000	ENSP00000381517:E799G;ENSP00000308759:E1000G;ENSP00000381512:E1000G;ENSP00000381523:E1000G	ENSP00000308759:E1000G	E	-	2	0	ZNF295	42284275	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.552000	0.45828	2.096000	0.63516	0.533000	0.62120	GAG		0.572	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727	
ZNF208	7757	mdanderson.org	37	19	22155691	22155691	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155691A>G	ENST00000397126.4	-	4	2293	c.2145T>C	c.(2143-2145)caT>caC	p.H715H	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	715					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCTCTCCAGTATGAATTCTCT	0.373																																						.											0													35.0	37.0	37.0					19																	22155691		1993	4170	6163	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2145T>C	19.37:g.22155691A>G		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.373	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	mdanderson.org	37	19	22155696	22155696	+	Missense_Mutation	SNP	T	T	C	rs201427226		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155696T>C	ENST00000397126.4	-	4	2288	c.2140A>G	c.(2140-2142)Att>Gtt	p.I714V	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	714					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCAGTATGAATTCTCTTATGT	0.363																																						.											0													34.0	36.0	35.0					19																	22155696		1994	4182	6176	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2140A>G	19.37:g.22155696T>C	ENSP00000380315:p.Ile714Val	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000397126.4	37	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.273186	0.23221	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.00986	5.47	1.9	-0.727	0.11166	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02119	0.0066	.	.	.	0.22001	N	0.999425	D	0.67145	0.996	D	0.63877	0.919	T	0.45673	-0.9245	8	0.36615	T	0.2	.	2.6811	0.05094	0.3914:0.1391:0.0:0.4695	.	614	O43345	ZN208_HUMAN	V	714;614	ENSP00000380315:I714V	ENSP00000380315:I714V	I	-	1	0	ZNF208	21947536	0.000000	0.05858	0.002000	0.10522	0.258000	0.26162	0.170000	0.16663	-0.730000	0.04869	0.232000	0.17820	ATT		0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF208	7757	mdanderson.org	37	19	22155715	22155715	+	Silent	SNP	G	G	A	rs201994264		TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22155715G>A	ENST00000397126.4	-	4	2269	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	707					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GTTCCATAAGGTTTGAGGACC	0.363																																						.											0													34.0	35.0	35.0					19																	22155715		1989	4185	6174	SO:0001819	synonymous_variant	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2121C>T	19.37:g.22155715G>A		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000397126.4	37	CCDS54240.1																																																																																				0.363	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153	
ZNF17	7565	mdanderson.org	37	19	57931172	57931172	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:57931172A>G	ENST00000601808.1	+	3	525	c.312A>G	c.(310-312)ggA>ggG	p.G104G	ZNF17_ENST00000307658.7_Silent_p.G106G|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000596400.1_Silent_p.G116G|ZNF17_ENST00000595206.1_3'UTR	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	104					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGCATGACGGAACACACCCCA	0.507																																					Melanoma(149;1637 1853 29914 42869 44988)	.											0													132.0	129.0	130.0					19																	57931172		2203	4300	6503	SO:0001819	synonymous_variant	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.312A>G	19.37:g.57931172A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Silent	SNP	ENST00000601808.1	37	CCDS42636.1																																																																																				0.507	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1	NM_006959	
ZNF334	55713	mdanderson.org	37	20	45131515	45131515	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:45131515T>C	ENST00000347606.4	-	5	645	c.463A>G	c.(463-465)Agc>Ggc	p.S155G	ZNF334_ENST00000593880.1_Missense_Mutation_p.S178G|ZNF334_ENST00000457685.2_Missense_Mutation_p.S117G	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	155					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTTCTTTGCTTTTCTTTGCA	0.353																																						.											0													116.0	103.0	107.0					20																	45131515		2202	4300	6502	SO:0001583	missense	55713			AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.463A>G	20.37:g.45131515T>C	ENSP00000255129:p.Ser155Gly	Somatic		WXS	Illumina HiSeq	Phase_I	Q5T6U2|Q9NVW4	Missense_Mutation	SNP	ENST00000347606.4	37	CCDS33480.1	.	.	.	.	.	.	.	.	.	.	T	13.26	2.184182	0.38609	.	.	ENSG00000198185	ENST00000457685;ENST00000347606	T;T	0.08896	3.27;3.04	2.96	2.96	0.34315	.	.	.	.	.	T	0.07458	0.0188	L	0.39467	1.215	0.22127	N	0.99934	B;B;B	0.20887	0.049;0.027;0.049	B;B;B	0.22386	0.027;0.027;0.039	T	0.28681	-1.0036	9	0.34782	T	0.22	.	6.2248	0.20701	0.0:0.0:0.2596:0.7404	.	117;155;178	B3KQ93;Q9HCZ1;Q8N3P8	.;ZN334_HUMAN;.	G	117;155	ENSP00000402582:S117G;ENSP00000255129:S155G	ENSP00000255129:S155G	S	-	1	0	ZNF334	44564922	0.149000	0.22717	0.692000	0.30179	0.677000	0.39632	0.787000	0.26858	1.360000	0.45960	0.260000	0.18958	AGC		0.353	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1		
ZNF445	353274	mdanderson.org	37	3	44492834	44492834	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr3:44492834T>C	ENST00000396077.2	-	4	917	c.570A>G	c.(568-570)gaA>gaG	p.E190E	ZNF445_ENST00000425708.2_Silent_p.E190E	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	190					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		AGTCACGTGCTTCTATTTCAT	0.552																																						.											0													131.0	134.0	133.0					3																	44492834		2203	4300	6503	SO:0001819	synonymous_variant	353274			AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.570A>G	3.37:g.44492834T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q3MJD1	Silent	SNP	ENST00000396077.2	37	CCDS2713.1																																																																																				0.552	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
ZNF493	284443	mdanderson.org	37	19	21606001	21606001	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:21606001A>G	ENST00000355504.4	+	2	422	c.156A>G	c.(154-156)aaA>aaG	p.K52K	ZNF493_ENST00000392288.2_Silent_p.K180K|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	52					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CTGGAAAGAAACCTTTCAAAT	0.294																																						.											0													43.0	48.0	46.0					19																	21606001		2199	4290	6489	SO:0001819	synonymous_variant	284443			AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.156A>G	19.37:g.21606001A>G		Somatic		WXS	Illumina HiSeq	Phase_I	G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Silent	SNP	ENST00000355504.4	37	CCDS12412.1																																																																																				0.294	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910	
ZNF676	163223	mdanderson.org	37	19	22363172	22363172	+	Silent	SNP	G	G	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:22363172G>A	ENST00000397121.2	-	3	1664	c.1347C>T	c.(1345-1347)taC>taT	p.Y449Y		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CTTCACATTTGTAGGGTTTCT	0.438																																						.											0																																										SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1347C>T	19.37:g.22363172G>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MVX5	Silent	SNP	ENST00000397121.2	37	CCDS42539.1																																																																																				0.438	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
ZNF536	9745	mdanderson.org	37	19	30936335	30936335	+	Silent	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:30936335T>C	ENST00000355537.3	+	2	2013	c.1866T>C	c.(1864-1866)ggT>ggC	p.G622G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	622					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCTGCAGGGTCCTGGGAACA	0.592																																						.											0													95.0	106.0	102.0					19																	30936335		2203	4300	6503	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.1866T>C	19.37:g.30936335T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				0.592	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF81	347344	mdanderson.org	37	X	47774692	47774692	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:47774692A>G	ENST00000376954.1	+	6	1015	c.647A>G	c.(646-648)aAc>aGc	p.N216S	ZNF81_ENST00000338637.7_Missense_Mutation_p.N216S			P51508	ZNF81_HUMAN	zinc finger protein 81	216					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GCAGCAAAGAACCTGGATAAA	0.348																																						.											0													63.0	61.0	61.0					X																	47774692		1844	4081	5925	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.647A>G	X.37:g.47774692A>G	ENSP00000366153:p.Asn216Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q6RX22|Q96QH6	Missense_Mutation	SNP	ENST00000376954.1	37	CCDS43933.1	.	.	.	.	.	.	.	.	.	.	A	9.121	1.008947	0.19199	.	.	ENSG00000197779	ENST00000376954;ENST00000338637	T;T	0.05382	3.45;3.45	3.95	-0.0534	0.13818	.	0.149824	0.31370	N	0.007772	T	0.03871	0.0109	L	0.31752	0.955	0.22017	N	0.999417	B	0.15141	0.012	B	0.11329	0.006	T	0.36237	-0.9756	10	0.72032	D	0.01	.	1.2929	0.02064	0.3318:0.371:0.1138:0.1835	.	216	P51508	ZNF81_HUMAN	S	216	ENSP00000366153:N216S;ENSP00000341151:N216S	ENSP00000341151:N216S	N	+	2	0	ZNF81	47659636	0.000000	0.05858	0.005000	0.12908	0.380000	0.30137	0.093000	0.15086	-0.098000	0.12285	0.441000	0.28932	AAC		0.348	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ZNF81	347344	mdanderson.org	37	X	47774819	47774819	+	Silent	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:47774819A>G	ENST00000376954.1	+	6	1142	c.774A>G	c.(772-774)aaA>aaG	p.K258K	ZNF81_ENST00000338637.7_Silent_p.K258K			P51508	ZNF81_HUMAN	zinc finger protein 81	258					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TCAGCCTCAAACACTCACTCA	0.398																																						.											0													58.0	54.0	55.0					X																	47774819		1934	4113	6047	SO:0001819	synonymous_variant	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.774A>G	X.37:g.47774819A>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q6RX22|Q96QH6	Silent	SNP	ENST00000376954.1	37	CCDS43933.1																																																																																				0.398	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056455.2	NM_007137	
ZNHIT2	741	mdanderson.org	37	11	64884065	64884065	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr11:64884065A>G	ENST00000310597.4	-	1	1105	c.1061T>C	c.(1060-1062)cTc>cCc	p.L354P	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	354							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CAGGGGTGTGAGGGCCGCCTC	0.637																																						.											0													42.0	43.0	43.0					11																	64884065		2201	4297	6498	SO:0001583	missense	741				CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.1061T>C	11.37:g.64884065A>G	ENSP00000308548:p.Leu354Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q3SY14|Q8IUV0	Missense_Mutation	SNP	ENST00000310597.4	37	CCDS8094.1	.	.	.	.	.	.	.	.	.	.	A	18.34	3.603235	0.66445	.	.	ENSG00000174276	ENST00000310597	T	0.36520	1.25	4.79	4.79	0.61399	.	0.199408	0.31809	U	0.007023	T	0.47838	0.1467	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.50048	-0.8873	10	0.87932	D	0	-18.6649	12.3124	0.54935	1.0:0.0:0.0:0.0	.	354	Q9UHR6	ZNHI2_HUMAN	P	354	ENSP00000308548:L354P	ENSP00000308548:L354P	L	-	2	0	ZNHIT2	64640641	0.893000	0.30496	0.934000	0.37439	0.758000	0.43043	4.025000	0.57225	2.008000	0.58898	0.459000	0.35465	CTC		0.637	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385260.1	NM_014205	
ZSCAN31	64288	mdanderson.org;bcgsc.ca	37	6	28294148	28294148	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr6:28294148A>G	ENST00000414429.1	-	8	1919	c.1016T>C	c.(1015-1017)gTt>gCt	p.V339A	ZSCAN31_ENST00000344279.6_Missense_Mutation_p.V339A|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.V339A|ZSCAN31_ENST00000446474.1_Missense_Mutation_p.V180A|ZSCAN31_ENST00000481934.1_5'UTR|ZSCAN31_ENST00000439158.1_Missense_Mutation_p.V339A			Q96LW9	ZSC31_HUMAN	zinc finger and SCAN domain containing 31	339					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CTGATGCTGAACAAGGCATGA	0.507																																						.											0													204.0	187.0	193.0					6																	28294148		2203	4300	6503	SO:0001583	missense	64288				CCDS4649.1, CCDS59001.1	6p	2013-01-09	2013-01-08	2013-01-08	ENSG00000235109	ENSG00000235109		"""-"", ""Zinc fingers, C2H2-type"""	14097	protein-coding gene	gene with protein product		610794	"""zinc finger protein 310 pseudogene"", ""zinc finger protein 323"""	ZNF310P, ZNF323			Standard	NM_001135216		Approved		uc003nla.3	Q96LW9	OTTHUMG00000014518	ENST00000414429.1:c.1016T>C	6.37:g.28294148A>G	ENSP00000390076:p.Val339Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P178|Q8WWS5	Missense_Mutation	SNP	ENST00000414429.1	37	CCDS4649.1	.	.	.	.	.	.	.	.	.	.	A	12.27	1.888102	0.33348	.	.	ENSG00000235109	ENST00000396838;ENST00000439158;ENST00000414429;ENST00000446474;ENST00000344279;ENST00000435857	T;T;T;T;T;T	0.07021	3.27;3.27;3.27;3.27;3.27;3.23	5.06	2.58	0.30949	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01627	0.0052	N	0.13299	0.325	0.09310	N	1	B	0.13594	0.008	B	0.28849	0.095	T	0.48317	-0.9046	9	0.40728	T	0.16	.	4.9539	0.14029	0.6774:0.1578:0.1649:0.0	.	339	Q96LW9	ZN323_HUMAN	A	339;339;339;180;339;180	ENSP00000380050:V339A;ENSP00000413705:V339A;ENSP00000390076:V339A;ENSP00000402937:V180A;ENSP00000345339:V339A;ENSP00000391235:V180A	ENSP00000345339:V339A	V	-	2	0	ZNF323	28402127	0.000000	0.05858	0.088000	0.20740	0.868000	0.49771	-0.372000	0.07504	0.314000	0.23086	0.528000	0.53228	GTT		0.507	ZSCAN31-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346804.1	NM_030899	
ZSCAN5A	79149	mdanderson.org	37	19	56734014	56734014	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr19:56734014T>C	ENST00000587340.1	-	6	1380	c.685A>G	c.(685-687)Agg>Ggg	p.R229G	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R229G|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R112G|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R83G|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R229G			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	229					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCTCTTCCCTGTTTTCCTTC	0.507																																						.											0													210.0	180.0	190.0					19																	56734014		2203	4300	6503	SO:0001583	missense	79149			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.685A>G	19.37:g.56734014T>C	ENSP00000467631:p.Arg229Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	ENST00000587340.1	37	CCDS12941.1	.	.	.	.	.	.	.	.	.	.	T	7.264	0.605783	0.14002	.	.	ENSG00000131848	ENST00000391713;ENST00000254165	T;T	0.06608	3.28;3.28	2.27	-3.83	0.04269	.	.	.	.	.	T	0.06554	0.0168	M	0.69823	2.125	0.09310	N	1	B;B	0.27229	0.172;0.104	B;B	0.25140	0.058;0.058	T	0.39860	-0.9593	9	0.72032	D	0.01	.	0.4792	0.00545	0.1989:0.3173:0.2012:0.2827	.	112;229	B4DX98;Q9BUG6	.;ZSA5A_HUMAN	G	229;112	ENSP00000375593:R229G;ENSP00000254165:R112G	ENSP00000254165:R112G	R	-	1	2	ZSCAN5A	61425826	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.540000	0.06106	-1.082000	0.03101	-0.366000	0.07423	AGG		0.507	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458110.1	NM_024303	
ZXDB	158586	mdanderson.org	37	X	57620759	57620759	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chrX:57620759A>G	ENST00000374888.1	+	1	2491	c.2278A>G	c.(2278-2280)Aac>Gac	p.N760D		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	760			N -> S (in dbSNP:rs1057340).		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						AGCGGAGTGGAACGTACATCC	0.483																																						.											0													172.0	131.0	145.0					X																	57620759		2203	4300	6503	SO:0001583	missense	158586			L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.2278A>G	X.37:g.57620759A>G	ENSP00000364023:p.Asn760Asp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	0.009	-1.853565	0.00558	.	.	ENSG00000198455	ENST00000374888	T	0.09350	2.99	3.91	1.57	0.23409	.	0.492036	0.23457	N	0.047972	T	0.04227	0.0117	N	0.16166	0.38	0.09310	N	0.999999	B	0.02656	0.0	B	0.06405	0.002	T	0.44726	-0.9309	10	0.02654	T	1	.	6.0158	0.19603	0.7572:0.0:0.2428:0.0	.	760	P98169	ZXDB_HUMAN	D	760	ENSP00000364023:N760D	ENSP00000364023:N760D	N	+	1	0	ZXDB	57637484	0.543000	0.26434	0.166000	0.22797	0.698000	0.40448	1.055000	0.30467	0.527000	0.28560	0.430000	0.28490	AAC		0.483	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157	
ZZZ3	26009	mdanderson.org	37	1	78097667	78097667	+	Missense_Mutation	SNP	T	T	C			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr1:78097667T>C	ENST00000370801.3	-	5	1848	c.1373A>G	c.(1372-1374)gAg>gGg	p.E458G	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	458					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GAGTCTTGCCTCTGAGGGTGG	0.388																																						.											0													177.0	163.0	168.0					1																	78097667		2203	4300	6503	SO:0001583	missense	26009			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1373A>G	1.37:g.78097667T>C	ENSP00000359837:p.Glu458Gly	Somatic		WXS	Illumina HiSeq	Phase_I	B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Missense_Mutation	SNP	ENST00000370801.3	37	CCDS677.1	.	.	.	.	.	.	.	.	.	.	T	12.74	2.029389	0.35797	.	.	ENSG00000036549	ENST00000370801	.	.	.	5.74	5.74	0.90152	.	0.136480	0.56097	D	0.000039	T	0.70159	0.3192	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.76575	0.988;0.922;0.964	T	0.69903	-0.5019	8	.	.	.	.	16.3545	0.83230	0.0:0.0:0.0:1.0	.	458;458;458	Q8IYH5-4;Q8IYH5;Q8IYH5-2	.;ZZZ3_HUMAN;.	G	458	.	.	E	-	2	0	ZZZ3	77870255	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	6.785000	0.75089	2.326000	0.78906	0.533000	0.62120	GAG		0.388	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1	NM_015534	
SLC12A1	6557	bcgsc.ca	37	15	48512846	48512846	+	Missense_Mutation	SNP	C	C	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr15:48512846C>A	ENST00000558405.1	+	2	450	c.436C>A	c.(436-438)Cca>Aca	p.P146T	SLC12A1_ENST00000330289.6_Missense_Mutation_p.P146T|SLC12A1_ENST00000561031.1_Missense_Mutation_p.P146T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.P146T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.P146T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	146					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GGCAGTCACCCCAAGTTCAGC	0.398																																						.											0													100.0	90.0	93.0					15																	48512846		2198	4297	6495	SO:0001583	missense	6557				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.436C>A	15.37:g.48512846C>A	ENSP00000453409:p.Pro146Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	CCDS10129.2	.	.	.	.	.	.	.	.	.	.	C	5.880	0.346511	0.11126	.	.	ENSG00000074803	ENST00000380993;ENST00000396577;ENST00000330289	D;D;D	0.96522	-4.04;-4.04;-4.04	6.17	6.17	0.99709	Amino acid permease, N-terminal (1);	0.322058	0.37809	N	0.001923	D	0.92335	0.7568	L	0.36672	1.1	0.23657	N	0.997188	B;B	0.17038	0.02;0.001	B;B	0.17433	0.018;0.004	T	0.79902	-0.1607	10	0.21014	T	0.42	.	10.289	0.43584	0.1452:0.7849:0.0:0.07	.	146;146	Q8IUN5;Q13621	.;S12A1_HUMAN	T	146	ENSP00000370381:P146T;ENSP00000379822:P146T;ENSP00000331550:P146T	ENSP00000331550:P146T	P	+	1	0	SLC12A1	46300138	0.894000	0.30519	0.292000	0.24919	0.238000	0.25445	2.190000	0.42630	2.941000	0.99782	0.655000	0.94253	CCA		0.398	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
STK16	8576	bcgsc.ca	37	2	220111919	220111919	+	Missense_Mutation	SNP	G	G	T			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr2:220111919G>T	ENST00000409638.3	+	4	563	c.391G>T	c.(391-393)Ggg>Tgg	p.G131W	STK16_ENST00000409743.1_Missense_Mutation_p.G131W|GLB1L_ENST00000392089.2_5'Flank|GLB1L_ENST00000295759.7_5'Flank|STK16_ENST00000409516.3_Intron|STK16_ENST00000396738.2_Missense_Mutation_p.G131W|STK16_ENST00000409260.1_Missense_Mutation_p.G176W|GLB1L_ENST00000356283.3_5'Flank|STK16_ENST00000486813.1_3'UTR	NM_001008910.2	NP_001008910.1	O75716	STK16_HUMAN	serine/threonine kinase 16	131	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to transforming growth factor beta stimulus (GO:0071560)|protein autophosphorylation (GO:0046777)	Golgi-associated vesicle (GO:0005798)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGCTGGGGATCTGCAG	0.552																																					Pancreas(34;887 922 17165 36961 39622)	.											0													74.0	75.0	75.0					2																	220111919		1941	4146	6087	SO:0001583	missense	8576			AF060798	CCDS42822.1	2q35	2010-04-16			ENSG00000115661	ENSG00000115661			11394	protein-coding gene	gene with protein product		604719				9712705	Standard	NM_001008910		Approved	PKL12, MPSK	uc002vko.2	O75716	OTTHUMG00000154520	ENST00000409638.3:c.391G>T	2.37:g.220111919G>T	ENSP00000386928:p.Gly131Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A8K9H9|Q5U0F8|Q96KI2|Q9BUH4|Q9UEN3|Q9UP78	Missense_Mutation	SNP	ENST00000409638.3	37	CCDS42822.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791769	0.70452	.	.	ENSG00000115661	ENST00000409638;ENST00000396738;ENST00000409260;ENST00000409743	T;T;T;T	0.75050	1.97;1.97;-0.9;1.97	5.69	4.82	0.62117	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88373	0.6419	M	0.90595	3.13	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;0.996;0.998;1.0	D	0.90803	0.4695	10	0.87932	D	0	-5.5489	14.9395	0.70983	0.0688:0.0:0.9312:0.0	.	131;131;176;131	B4DXY6;B8ZZI5;B8ZZN3;O75716	.;.;.;STK16_HUMAN	W	131;131;176;131	ENSP00000386928:G131W;ENSP00000379964:G131W;ENSP00000387156:G176W;ENSP00000386553:G131W	ENSP00000379964:G131W	G	+	1	0	STK16	219820163	1.000000	0.71417	0.998000	0.56505	0.955000	0.61496	7.688000	0.84153	1.401000	0.46761	0.655000	0.94253	GGG		0.552	STK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335679.1		
FRG1B	284802	bcgsc.ca	37	20	29628233	29628233	+	Missense_Mutation	SNP	A	A	G			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr20:29628233A>G	ENST00000278882.3	+	6	615	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V|FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	79										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAGGGGAAAATGGCTTTGTT	0.363																																						.											0																																										SO:0001583	missense	284802					20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235A>G	20.37:g.29628233A>G	ENSP00000278882:p.Met79Val	Somatic		WXS	Illumina HiSeq	Phase_I	C4AME5	RNA	SNP	ENST00000278882.3	37		.	.	.	.	.	.	.	.	.	.	a	3.138	-0.176853	0.06380	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.41065	1.01	2.08	2.08	0.27032	Actin cross-linking (1);	0.040228	0.85682	D	0.000000	T	0.23370	0.0565	.	.	.	0.41063	D	0.985397	B;B	0.17852	0.002;0.024	B;B	0.25140	0.03;0.058	T	0.04593	-1.0940	9	0.11794	T	0.64	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	84;79	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	79;84;79	ENSP00000408863:M84V	ENSP00000278882:M79V	M	+	1	0	FRG1B	28241894	1.000000	0.71417	1.000000	0.80357	0.277000	0.26821	4.813000	0.62620	1.208000	0.43306	0.347000	0.21830	ATG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
SLK	9748	bcgsc.ca	37	10	105762030	105762031	+	Frame_Shift_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr10:105762030_105762031insA	ENST00000369755.3	+	9	1639_1640	c.1094_1095insA	c.(1093-1098)gaaaaafs	p.EK365fs	SLK_ENST00000335753.4_Frame_Shift_Ins_p.EK365fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	365	Glu-rich.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTGTCTCAGAAAAAACAGAAC	0.386																																					NSCLC(111;540 1651 1927 4474 17706)	.											0																																										SO:0001589	frameshift_variant	9748				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.1099dupA	10.37:g.105762035_105762035dupA	ENSP00000358770:p.Glu365fs	Somatic		WXS	Illumina HiSeq	Phase_I	D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	Frame_Shift_Ins	INS	ENST00000369755.3	37	CCDS7553.1																																																																																				0.386	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050188.1	NM_014720	
HCN1	348980	bcgsc.ca	37	5	45262025	45262026	+	Stop_Codon_Ins	INS	-	-	A			TCGA-KN-8433-01A-11D-2310-10	TCGA-KN-8433-11A-01D-2311-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	b6e97d6b-3b11-4cee-a4a9-2b59d6e88a3d	f16bdd65-b3fd-46c9-b27f-ad59ee5a9916	g.chr5:45262025_45262026insA	ENST00000303230.4	-	0	2727_2728					NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1						apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCAGGGATCATAAATTTGAAG	0.431																																						.											0																																										SO:0001567	stop_retained_variant	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.2670dupT	5.37:g.45262025_45262025dupA	ENSP00000307342:p.*891Leuext*35	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	INS	ENST00000303230.4	37	CCDS3952.1																																																																																				0.431	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
