#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_Algorithm	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_Gene_Freq	i_COSMIC_Site_Freq	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_NTotCov	i_NVarCov	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_Transcript_Id	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNPPopFreq	i_dbSNP_AF	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
ITPR1	3708	hgsc.bcm.edu	37	3	4693825	4693829	+	Frame_Shift_Del	DEL	TGTCG	TGTCG	-	rs377049416		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	TGTCG	TGTCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:4693825_4693829delTGTCG	ENST00000443694.2	+	9	874_878	c.874_878delTGTCG	c.(874-879)tgtcggfs	p.CR292fs	ITPR1_ENST00000302640.8_Frame_Shift_Del_p.CR292fs|ITPR1_ENST00000354582.6_Frame_Shift_Del_p.CR292fs|ITPR1_ENST00000544951.1_Frame_Shift_Del_p.CR292fs|ITPR1_ENST00000423119.2_Frame_Shift_Del_p.CR292fs|ITPR1_ENST00000456211.2_Frame_Shift_Del_p.CR292fs|ITPR1_ENST00000357086.4_Frame_Shift_Del_p.CR292fs			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	292					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GCATGACCCATGTCGGGGCGGAGCA	0.493																																					p.291_293del		.	.											.	ITPR1	.	.	0			c.873_877del						.																																			SO:0001589	frameshift_variant	3708	exon11			.	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.874_878delTGTCG	3.37:g.4693825_4693829delTGTCG	ENSP00000401671:p.Cys292fs	116.0	0.0		156.0	35.0	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Frame_Shift_Del	DEL	ENST00000443694.2	37	CCDS54551.1																																																																																			.	.		0.493	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
KIAA0040	9674	hgsc.bcm.edu	37	1	175129933	175129934	+	Frame_Shift_Ins	INS	-	-	C	rs150137790		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr1:175129933_175129934insC	ENST00000423313.1	-	4	752_753	c.216_217insG	c.(214-219)aagaagfs	p.K73fs	KIAA0040_ENST00000444639.1_Frame_Shift_Ins_p.K73fs|KIAA0040_ENST00000545251.2_Frame_Shift_Ins_p.K73fs|KIAA0040_ENST00000567124.1_5'Flank	NM_001162893.1|NM_001162895.1|NM_014656.2	NP_001156365.1|NP_001156367.1|NP_055471.2	Q15053	K0040_HUMAN	KIAA0040	0																	tccttcttcttcttcttcttct	0.5																																					p.K73fs		.	.											.	.	.	.	0			c.217_218insG						.																																			SO:0001589	frameshift_variant	9674	exon5			.	D25539		1q24-q25	2012-11-29			ENSG00000235750	ENSG00000235750			28950	protein-coding gene	gene with protein product							Standard	NM_014656		Approved		uc001gkn.3	Q15053	OTTHUMG00000034880	ENST00000423313.1:c.217dupG	1.37:g.175129934_175129934dupC	ENSP00000462172:p.Lys73fs	66.0	0.0		87.0	11.0	NM_001162893	A8K9H6|Q2NKQ0	Frame_Shift_Ins	INS	ENST00000423313.1	37																																																																																				.	.		0.500	KIAA0040-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000084420.3	NM_014656	
KRTAP5-7	440050	hgsc.bcm.edu	37	11	71238736	71238762	+	In_Frame_Del	DEL	CTGCTGTTCCTCAGGCTGTGGGTCATC	CTGCTGTTCCTCAGGCTGTGGGTCATC	-	rs533945918|rs79842834	byFrequency	TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	CTGCTGTTCCTCAGGCTGTGGGTCATC	CTGCTGTTCCTCAGGCTGTGGGTCATC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr11:71238736_71238762delCTGCTGTTCCTCAGGCTGTGGGTCATC	ENST00000398536.4	+	1	424_450	c.390_416delCTGCTGTTCCTCAGGCTGTGGGTCATC	c.(388-417)tgctgctgttcctcaggctgtgggtcatcc>tgc	p.CCSSGCGSS131del		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	131	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)		p.G137W(1)		breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						gtaagccctgctgctgttcctcaggctgtgggtcatcctgctgccag	0.604																																					p.130_139del		.	.											.	KRTAP5-7	.	.	1	Substitution - Missense(1)	lung(1)	c.389_415del						.																																			SO:0001651	inframe_deletion	440050	exon1			.	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.390_416delCTGCTGTTCCTCAGGCTGTGGGTCATC	11.37:g.71238736_71238762delCTGCTGTTCCTCAGGCTGTGGGTCATC	ENSP00000417330:p.Cys131_Ser139del	156.0	0.0		180.0	23.0	NM_001012503	B2RNM3|Q701N5	In_Frame_Del	DEL	ENST00000398536.4	37	CCDS41682.1																																																																																			.	.		0.604	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
RANBP10	57610	hgsc.bcm.edu	37	16	67839340	67839340	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr16:67839340delC	ENST00000317506.3	-	2	453	c.338delG	c.(337-339)ggafs	p.G113fs	RANBP10_ENST00000602677.1_Frame_Shift_Del_p.G113fs|RANBP10_ENST00000411657.2_Intron|TSNAXIP1_ENST00000415766.3_5'Flank|TSNAXIP1_ENST00000388833.3_5'Flank|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000448631.2_Frame_Shift_Del_p.G113fs|RANBP10_ENST00000425512.2_5'UTR|TSNAXIP1_ENST00000561639.1_5'Flank	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	113	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CCCATCTCTTCCTTTGCTGAC	0.507																																					p.G113fs		.	.											.	RANBP10	.	.	0			c.339delA						.						74.0	69.0	71.0					16																	67839340		2198	4300	6498	SO:0001589	frameshift_variant	57610	exon2			.	AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.338delG	16.37:g.67839340delC	ENSP00000316589:p.Gly113fs	65.0	0.0		91.0	33.0	NM_020850	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Frame_Shift_Del	DEL	ENST00000317506.3	37	CCDS32469.1																																																																																			.	.		0.507	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467896.1	NM_020850	
UGT2B4	7363	hgsc.bcm.edu	37	4	70360887	70360889	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr4:70360887_70360889delCTT	ENST00000305107.6	-	1	737_739	c.691_693delAAG	c.(691-693)aagdel	p.K231del	UGT2B4_ENST00000381096.3_In_Frame_Del_p.K95del|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_In_Frame_Del_p.K231del	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	231					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACTGATCCCACTTCTTCATGTCA	0.32																																					p.231_232del		.	.											.	UGT2B4	.	.	0			c.692_694del						.																																			SO:0001651	inframe_deletion	7363	exon1			.	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.691_693delAAG	4.37:g.70360890_70360892delCTT	ENSP00000305221:p.Lys231del	102.0	0.0		99.0	15.0	NM_021139	A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	In_Frame_Del	DEL	ENST00000305107.6	37	CCDS43234.1																																																																																			.	.		0.320	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139	
GRIA1	2890	hgsc.bcm.edu	37	5	153085452	153085460	+	In_Frame_Del	DEL	GTGAGTGTT	GTGAGTGTT	-			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	GTGAGTGTT	GTGAGTGTT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:153085452_153085460delGTGAGTGTT	ENST00000285900.5	+	11	1991_1999	c.1648_1656delGTGAGTGTT	c.(1648-1656)gtgagtgttdel	p.VSV550del	GRIA1_ENST00000518142.1_In_Frame_Del_p.VSV470del|GRIA1_ENST00000518783.1_In_Frame_Del_p.VSV560del|GRIA1_ENST00000521843.2_In_Frame_Del_p.VSV481del|GRIA1_ENST00000340592.5_In_Frame_Del_p.VSV550del|GRIA1_ENST00000448073.4_In_Frame_Del_p.VSV560del	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	550					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CTACATTGGAGTGAGTGTTGTCCTCTTCC	0.469																																					p.559_562del		.	.											.	GRIA1	.	.	0			c.1677_1685del						.																																			SO:0001651	inframe_deletion	2890	exon11			.		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.1648_1656delGTGAGTGTT	5.37:g.153085452_153085460delGTGAGTGTT	ENSP00000285900:p.Val550_Val552del	271.0	0.0		378.0	34.0	NM_001258021	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	In_Frame_Del	DEL	ENST00000285900.5	37	CCDS4322.1																																																																																			.	.		0.469	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3		
SGOL2	151246	hgsc.bcm.edu	37	2	201399836	201399838	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr2:201399836_201399838delAAG	ENST00000357799.4	+	3	349_351	c.251_253delAAG	c.(250-255)aaagaa>aaa	p.E85del	SGOL2_ENST00000409203.3_In_Frame_Del_p.E85del	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	85					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.E85Q(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTATTGCAAAAAGAAGTAGAGAA	0.3																																					p.84_84del		.	.											.	SGOL2	.	.	1	Substitution - Missense(1)	lung(1)	c.250_252del						.																																			SO:0001651	inframe_deletion	151246	exon3			.	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.251_253delAAG	2.37:g.201399839_201399841delAAG	ENSP00000350447:p.Glu85del	40.0	0.0		80.0	16.0	NM_152524	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	In_Frame_Del	DEL	ENST00000357799.4	37	CCDS42796.1																																																																																			.	.		0.300	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
RMDN1	51115	hgsc.bcm.edu	37	8	87492510	87492511	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:87492510_87492511insA	ENST00000406452.3	-	6	795_796	c.636_637insT	c.(634-639)ggtattfs	p.I213fs	RMDN1_ENST00000519966.1_Frame_Shift_Ins_p.I183fs|RMDN1_ENST00000430676.2_Frame_Shift_Ins_p.I183fs|RMDN1_ENST00000523911.1_Frame_Shift_Ins_p.I169fs	NM_016033.2	NP_057117.2	Q96DB5	RMD1_HUMAN	regulator of microtubule dynamics 1	213						microtubule (GO:0005874)|mitochondrion (GO:0005739)											TCTTACCAAATACCCATAAGGT	0.238																																					p.I213fs		.	.											.	.	.	.	0			c.637_638insT						.																																			SO:0001589	frameshift_variant	51115	exon6			.	AK000672	CCDS34918.1, CCDS69509.1, CCDS69510.1	8q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000176623	ENSG00000176623			24285	protein-coding gene	gene with protein product		611871	"""family with sequence similarity 82, member B"""	FAM82B		10810093	Standard	NM_016033		Approved	CGI-90, FLJ20665, RMD1	uc003ydu.3	Q96DB5	OTTHUMG00000163692	ENST00000406452.3:c.637dupT	8.37:g.87492511_87492511dupA	ENSP00000385927:p.Ile213fs	112.0	0.0		111.0	34.0	NM_016033	A9UMZ8|B4DNF5|B4DZW6|B5MC61|C9JSC6|E7EVI2|Q9Y398	Frame_Shift_Ins	INS	ENST00000406452.3	37	CCDS34918.1																																																																																			.	.		0.238	RMDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374770.2	NM_016033	
CUL9	23113	hgsc.bcm.edu	37	6	43181019	43181022	+	Frame_Shift_Del	DEL	TCAA	TCAA	-			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	TCAA	TCAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:43181019_43181022delTCAA	ENST00000252050.4	+	27	5429_5432	c.5345_5348delTCAA	c.(5344-5349)ttcaatfs	p.FN1782fs	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000354495.3_Frame_Shift_Del_p.FN1672fs|CUL9_ENST00000372647.2_Frame_Shift_Del_p.FN1782fs|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1782					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGCTGAAATTCAATCAGACAGAG	0.549																																					p.1782_1783del		.	.											.	CUL9-529	.	.	0			c.5344_5347del						.																																			SO:0001589	frameshift_variant	23113	exon27			.	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.5345_5348delTCAA	6.37:g.43181019_43181022delTCAA	ENSP00000252050:p.Phe1782fs	120.0	0.0		116.0	20.0	NM_015089	O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	ENST00000252050.4	37	CCDS4890.1																																																																																			.	.		0.549	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089	
SLC7A13	157724	hgsc.bcm.edu	37	8	87235302	87235302	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:87235302G>A	ENST00000297524.3	-	2	819	c.716C>T	c.(715-717)cCc>cTc	p.P239L	SLC7A13_ENST00000419776.2_Missense_Mutation_p.P230L|SLC7A13_ENST00000520624.1_5'UTR	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	239						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TATGCATTTGGGAATTGTTGT	0.353																																					p.P239L		.	.											.	SLC7A13	.	.	0			c.C716T						.						144.0	149.0	147.0					8																	87235302		2203	4300	6503	SO:0001583	missense	157724	exon2			CATTTGGGAATTG	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.716C>T	8.37:g.87235302G>A	ENSP00000297524:p.Pro239Leu	63.0	0.0		87.0	22.0	NM_138817	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	ENST00000297524.3	37	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109520	0.56398	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.91740	-2.9;-2.9	4.23	0.0393	0.14204	Amino acid permease domain (1);	0.337202	0.25596	N	0.029592	D	0.94706	0.8292	M	0.86178	2.8	0.22728	N	0.998808	P;D	0.67145	0.808;0.996	P;D	0.67382	0.517;0.951	D	0.88177	0.2868	10	0.66056	D	0.02	.	8.1044	0.30877	0.3936:0.0:0.6064:0.0	.	230;239	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	L	239;230	ENSP00000297524:P239L;ENSP00000410982:P230L	ENSP00000297524:P239L	P	-	2	0	SLC7A13	87304418	0.868000	0.29978	0.003000	0.11579	0.501000	0.33797	1.038000	0.30254	0.053000	0.16036	0.557000	0.71058	CCC	.	.		0.353	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	
CDK5RAP2	55755	hgsc.bcm.edu	37	9	123298712	123298712	+	Silent	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr9:123298712T>C	ENST00000349780.4	-	7	779	c.600A>G	c.(598-600)tcA>tcG	p.S200S	CDK5RAP2_ENST00000360190.4_Silent_p.S200S|CDK5RAP2_ENST00000359309.3_Silent_p.S200S|CDK5RAP2_ENST00000360822.3_Silent_p.S200S	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	200					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTTCATCTCTGAAAGCTTGC	0.537																																					p.S200S		.	.											.	CDK5RAP2	.	.	0			c.A600G						.						140.0	119.0	126.0					9																	123298712		2203	4300	6503	SO:0001819	synonymous_variant	55755	exon7			CATCTCTGAAAGC	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.600A>G	9.37:g.123298712T>C		72.0	0.0		82.0	29.0	NM_018249	Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Silent	SNP	ENST00000349780.4	37	CCDS6823.1																																																																																			.	.		0.537	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249	
PLEC	5339	hgsc.bcm.edu	37	8	144995161	144995161	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:144995161C>T	ENST00000322810.4	-	32	9408	c.9239G>A	c.(9238-9240)cGg>cAg	p.R3080Q	PLEC_ENST00000527096.1_Missense_Mutation_p.R2966Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R2947Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R2943Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R2929Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R2943Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R2921Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R2911Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R2970Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3080	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGGAACTGCCGCAGCAGGTC	0.597																																					p.R3080Q		.	.											.	PLEC	.	.	0			c.G9239A						.						39.0	46.0	43.0					8																	144995161		2152	4248	6400	SO:0001583	missense	5339	exon32			AACTGCCGCAGCA	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9239G>A	8.37:g.144995161C>T	ENSP00000323856:p.Arg3080Gln	49.0	0.0		39.0	4.0	NM_201380	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279686	0.40294	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.75821	-0.93;-0.93;-0.97;-0.97;-0.95;-0.93;-0.93;-0.94;-0.93	4.82	2.99	0.34606	.	0.092502	0.43416	N	0.000564	T	0.67097	0.2857	M	0.65320	2	0.40794	D	0.983284	B;B;B;B;B;B;B;B	0.11235	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	B;B;B;B;B;B;B;B	0.09377	0.004;0.004;0.004;0.002;0.004;0.004;0.004;0.004	T	0.58825	-0.7568	10	0.16896	T	0.51	.	10.7299	0.46089	0.0:0.836:0.0:0.164	.	2970;2929;2921;3080;2911;2943;2947;2943	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	Q	2943;2947;2943;2911;3080;2921;2929;2970;2966	ENSP00000344848:R2943Q;ENSP00000350277:R2947Q;ENSP00000346602:R2943Q;ENSP00000381756:R2911Q;ENSP00000323856:R3080Q;ENSP00000347044:R2921Q;ENSP00000348702:R2929Q;ENSP00000388180:R2970Q;ENSP00000434583:R2966Q	ENSP00000323856:R3080Q	R	-	2	0	PLEC	145067149	0.970000	0.33590	1.000000	0.80357	0.975000	0.68041	2.446000	0.44908	0.546000	0.28920	0.448000	0.29417	CGG	.	.		0.597	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
USP42	84132	hgsc.bcm.edu	37	7	6194392	6194392	+	Silent	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr7:6194392C>T	ENST00000306177.5	+	15	3365	c.3207C>T	c.(3205-3207)taC>taT	p.Y1069Y		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	1069	Arg-rich.				cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		ACGCCCTGTACGCTGCCCGGG	0.711																																					p.Y1069Y		.	.											.	USP42	.	.	0			c.C3207T						.						7.0	9.0	9.0					7																	6194392		1986	4093	6079	SO:0001819	synonymous_variant	84132	exon15			CCTGTACGCTGCC	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.3207C>T	7.37:g.6194392C>T		21.0	0.0		14.0	4.0	NM_032172	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																			.	.		0.711	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
BRIX1	55299	hgsc.bcm.edu	37	5	34925045	34925045	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:34925045T>G	ENST00000336767.5	+	9	1120	c.757T>G	c.(757-759)Tta>Gta	p.L253V	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	253					ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AGGACCAACTTTATATGAAAA	0.383																																					p.L253V		.	.											.	BRIX1	.	.	0			c.T757G						.						63.0	62.0	62.0					5																	34925045		2203	4300	6503	SO:0001583	missense	55299	exon9			CCAACTTTATATG		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.757T>G	5.37:g.34925045T>G	ENSP00000338862:p.Leu253Val	24.0	0.0		33.0	7.0	NM_018321	A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.995448	0.74703	.	.	ENSG00000113460	ENST00000336767	T	0.57107	0.42	5.82	3.47	0.39725	.	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	L	0.56396	1.775	0.50813	D	0.999896	D	0.65815	0.995	P	0.61722	0.893	T	0.60031	-0.7342	10	0.46703	T	0.11	-10.5824	8.4913	0.33102	0.0:0.2767:0.0:0.7233	.	253	Q8TDN6	BRX1_HUMAN	V	253	ENSP00000338862:L253V	ENSP00000338862:L253V	L	+	1	2	BRIX1	34960802	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.744000	0.47450	1.035000	0.39972	0.533000	0.62120	TTA	.	.		0.383	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321	
ZIC1	7545	hgsc.bcm.edu	37	3	147128637	147128637	+	Silent	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:147128637C>T	ENST00000282928.4	+	1	1467	c.738C>T	c.(736-738)ttC>ttT	p.F246F		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	246					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						ACAAAACTTTCAGCACCATGC	0.572																																					p.F246F		.	.											.	ZIC1	.	.	0			c.C738T						.						93.0	86.0	89.0					3																	147128637		2203	4300	6503	SO:0001819	synonymous_variant	7545	exon1			AACTTTCAGCACC	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.738C>T	3.37:g.147128637C>T		153.0	0.0		184.0	46.0	NM_003412	Q2M3N1	Silent	SNP	ENST00000282928.4	37	CCDS3136.1																																																																																			.	.		0.572	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412	
KRT79	338785	hgsc.bcm.edu	37	12	53225247	53225247	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr12:53225247C>T	ENST00000330553.5	-	2	675	c.641G>A	c.(640-642)gGg>gAg	p.G214E		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	214	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCCAGCCTCCCCCGCTCGCT	0.617																																					p.G214E		.	.											.	KRT79	.	.	0			c.G641A						.						114.0	114.0	114.0					12																	53225247		2203	4300	6503	SO:0001583	missense	338785	exon2			AGCCTCCCCCGCT	AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.641G>A	12.37:g.53225247C>T	ENSP00000328358:p.Gly214Glu	96.0	0.0		105.0	7.0	NM_175834	Q6P465|Q7Z793	Missense_Mutation	SNP	ENST00000330553.5	37	CCDS8839.1	.	.	.	.	.	.	.	.	.	.	C	7.898	0.733846	0.15574	.	.	ENSG00000185640	ENST00000330553	T	0.73789	-0.78	4.29	3.4	0.38934	Filament (1);	0.000000	0.50627	D	0.000117	T	0.67581	0.2908	M	0.64404	1.975	0.23010	N	0.99843	B	0.25007	0.116	B	0.30572	0.117	T	0.56171	-0.8023	10	0.31617	T	0.26	.	5.7978	0.18397	0.2856:0.6186:0.0:0.0958	.	214	Q5XKE5	K2C79_HUMAN	E	214	ENSP00000328358:G214E	ENSP00000328358:G214E	G	-	2	0	KRT79	51511514	0.000000	0.05858	0.953000	0.39169	0.650000	0.38633	-0.892000	0.04131	1.410000	0.46936	0.561000	0.74099	GGG	.	.		0.617	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406376.1	NM_175834	
MAGEL2	54551	hgsc.bcm.edu	37	15	23889752	23889752	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr15:23889752C>A	ENST00000532292.1	-	1	1423	c.1329G>T	c.(1327-1329)atG>atT	p.M443I		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	326	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		TGACTTTCACCATCTCCGAGC	0.488																																					p.M1046I		.	.											.	.	.	.	0			c.G3138T						.						60.0	59.0	59.0					15																	23889752		1998	4184	6182	SO:0001583	missense	54551	exon1			TTTCACCATCTCC	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1329G>T	15.37:g.23889752C>A	ENSP00000433433:p.Met443Ile	190.0	0.0		188.0	39.0	NM_019066		Missense_Mutation	SNP	ENST00000532292.1	37		.	.	.	.	.	.	.	.	.	.	C	13.89	2.370795	0.42003	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.78	3.79	0.43588	.	.	.	.	.	T	0.39332	0.1074	L	0.39566	1.225	0.25990	N	0.982256	.	.	.	.	.	.	T	0.16158	-1.0412	5	.	.	.	.	9.7898	0.40699	0.205:0.795:0.0:0.0	.	.	.	.	L	475	.	.	W	-	2	0	MAGEL2	21440845	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	1.889000	0.39718	2.644000	0.89710	0.591000	0.81541	TGG	.	.		0.488	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066	
SCG3	29106	hgsc.bcm.edu	37	15	51975586	51975586	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr15:51975586G>A	ENST00000220478.3	+	4	755	c.352G>A	c.(352-354)Gat>Aat	p.D118N	SCG3_ENST00000542355.2_De_novo_Start_OutOfFrame	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	118					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|membrane (GO:0016020)|secretory granule lumen (GO:0034774)	poly(A) RNA binding (GO:0044822)	p.D118N(1)		breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		AAAACTGATCGATGATTATGA	0.323																																					p.D118N		.	.											.	SCG3	.	.	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	c.G352A						.						108.0	114.0	112.0					15																	51975586		2195	4293	6488	SO:0001583	missense	29106	exon4			CTGATCGATGATT	AF078851	CCDS10142.1, CCDS53947.1	15q21.2	2013-09-23			ENSG00000104112	ENSG00000104112			13707	protein-coding gene	gene with protein product		611796				2053134, 8825061	Standard	NM_013243		Approved	SGIII, FLJ90833	uc002abh.3	Q8WXD2	OTTHUMG00000131748	ENST00000220478.3:c.352G>A	15.37:g.51975586G>A	ENSP00000220478:p.Asp118Asn	25.0	0.0		34.0	4.0	NM_013243	A8K2B0|B3KQP6|B4DK99|F5H3R8|Q96C83|Q96GE8|Q9Y6G7	Missense_Mutation	SNP	ENST00000220478.3	37	CCDS10142.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.642686	0.67244	.	.	ENSG00000104112	ENST00000220478	T	0.27256	1.68	6.07	5.17	0.71159	.	0.351936	0.35739	N	0.003004	T	0.23727	0.0574	L	0.27053	0.805	0.80722	D	1	P	0.49253	0.921	B	0.44108	0.441	T	0.02917	-1.1094	10	0.87932	D	0	-37.4805	15.3604	0.74469	0.0664:0.0:0.9336:0.0	.	118	Q8WXD2	SCG3_HUMAN	N	118	ENSP00000220478:D118N	ENSP00000220478:D118N	D	+	1	0	SCG3	49762878	1.000000	0.71417	0.936000	0.37596	0.668000	0.39293	8.797000	0.91882	1.586000	0.49944	0.655000	0.94253	GAT	.	.		0.323	SCG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254670.2	NM_013243	
CHD2	1106	hgsc.bcm.edu	37	15	93499777	93499777	+	Missense_Mutation	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr15:93499777T>C	ENST00000394196.4	+	16	2966	c.1898T>C	c.(1897-1899)cTg>cCg	p.L633P	CHD2_ENST00000557381.1_Missense_Mutation_p.L633P	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	633	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|hematopoietic stem cell differentiation (GO:0060218)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATAAAACTCTGATTGATTTC	0.448																																					p.L633P		.	.											.	CHD2	.	.	0			c.T1898C						.						113.0	113.0	113.0					15																	93499777		2197	4297	6494	SO:0001583	missense	1106	exon16			AAACTCTGATTGA	AF006514	CCDS10374.2, CCDS45356.1	15q26	2008-07-18			ENSG00000173575	ENSG00000173575			1917	protein-coding gene	gene with protein product		602119				9326634	Standard	NM_001042572		Approved	FLJ38614, DKFZp547I1315, DKFZp781D1727, DKFZp686E01200	uc002bsp.3	O14647	OTTHUMG00000149845	ENST00000394196.4:c.1898T>C	15.37:g.93499777T>C	ENSP00000377747:p.Leu633Pro	51.0	0.0		46.0	12.0	NM_001271	C6G482|Q96IP5	Missense_Mutation	SNP	ENST00000394196.4	37	CCDS10374.2	.	.	.	.	.	.	.	.	.	.	T	26.5	4.747868	0.89663	.	.	ENSG00000173575	ENST00000394196;ENST00000557381	D;D	0.94650	-3.48;-3.48	5.51	5.51	0.81932	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.27710	U	0.018167	D	0.98507	0.9502	H	0.98738	4.315	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.995;0.995	D	0.99802	1.1036	10	0.87932	D	0	-10.3973	15.6322	0.76920	0.0:0.0:0.0:1.0	.	633;633	O14647;O14647-2	CHD2_HUMAN;.	P	633	ENSP00000377747:L633P;ENSP00000451366:L633P	ENSP00000377747:L633P	L	+	2	0	CHD2	91300781	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.036000	0.88901	2.097000	0.63578	0.455000	0.32223	CTG	.	.		0.448	CHD2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313528.3	NM_001271	
EVC2	132884	hgsc.bcm.edu	37	4	5633629	5633629	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr4:5633629C>T	ENST00000344408.5	-	11	1654	c.1601G>A	c.(1600-1602)aGa>aAa	p.R534K	EVC2_ENST00000344938.1_Missense_Mutation_p.R534K|EVC2_ENST00000310917.2_Missense_Mutation_p.R454K	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	534					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCATTTCTCTGGAAAAC	0.433																																					p.R534K		.	.											.	EVC2	.	.	0			c.G1601A						.						107.0	110.0	109.0					4																	5633629		2203	4300	6503	SO:0001583	missense	132884	exon11			TCATTTCTCTGGA	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1601G>A	4.37:g.5633629C>T	ENSP00000342144:p.Arg534Lys	71.0	0.0		73.0	12.0	NM_147127	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	ENST00000344408.5	37	CCDS3382.2	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028483	0.54790	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.86865	-2.18;-2.18;-2.18	4.79	4.79	0.61399	.	0.125045	0.52532	D	0.000064	D	0.92704	0.7681	M	0.70275	2.135	0.37810	D	0.928021	D	0.89917	1.0	D	0.87578	0.998	D	0.93501	0.6844	10	0.44086	T	0.13	-20.5355	17.2176	0.86948	0.0:1.0:0.0:0.0	.	534	Q86UK5	LBN_HUMAN	K	534;454;534	ENSP00000339954:R534K;ENSP00000311683:R454K;ENSP00000342144:R534K	ENSP00000311683:R454K	R	-	2	0	EVC2	5684530	0.996000	0.38824	0.847000	0.33407	0.040000	0.13550	4.481000	0.60250	2.353000	0.79882	0.505000	0.49811	AGA	.	.		0.433	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000289822.2	NM_147127	
CTCFL	140690	hgsc.bcm.edu	37	20	56073609	56073609	+	Silent	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr20:56073609C>T	ENST00000608263.1	-	10	2650	c.1989G>A	c.(1987-1989)aaG>aaA	p.K663K	CTCFL_ENST00000609232.1_Silent_p.K663K|CTCFL_ENST00000371196.2_Silent_p.K663K|CTCFL_ENST00000243914.3_Silent_p.K663K|CTCFL_ENST00000429804.3_Silent_p.K613K|CTCFL_ENST00000423479.3_Splice_Site	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	663					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ATCCCTCTCACTTATCCATCG	0.473																																					p.K663K		.	.											.	CTCFL	.	.	0			c.G1989A						.						178.0	148.0	158.0					20																	56073609		2203	4300	6503	SO:0001819	synonymous_variant	140690	exon10			CTCTCACTTATCC		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1989G>A	20.37:g.56073609C>T		111.0	0.0		159.0	41.0	NM_001269041	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Silent	SNP	ENST00000608263.1	37	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	C	7.543	0.661041	0.14645	.	.	ENSG00000124092	ENST00000423479	.	.	.	3.85	2.9	0.33743	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3667	0.38228	0.0:0.7825:0.2175:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CTCFL	55507015	0.141000	0.22595	0.097000	0.21041	0.181000	0.23173	0.604000	0.24164	0.822000	0.34565	0.491000	0.48974	.	.	.		0.473	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618	
BHLHB9	80823	hgsc.bcm.edu	37	X	102004068	102004068	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:102004068G>A	ENST00000372735.1	+	4	730	c.145G>A	c.(145-147)Ggg>Agg	p.G49R	BHLHB9_ENST00000457056.1_Missense_Mutation_p.G49R|BHLHB9_ENST00000361229.4_Missense_Mutation_p.G49R|BHLHB9_ENST00000447531.1_Missense_Mutation_p.G49R|BHLHB9_ENST00000448867.1_Missense_Mutation_p.G49R			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	49					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGCCAAGACAGGGTCTAAGAC	0.502																																					p.G49R		.	.											.	BHLHB9	.	.	0			c.G145A						.						124.0	104.0	111.0					X																	102004068		2203	4300	6503	SO:0001583	missense	80823	exon2			AAGACAGGGTCTA	AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.145G>A	X.37:g.102004068G>A	ENSP00000361820:p.Gly49Arg	368.0	0.0		376.0	108.0	NM_001142530	Q9C0G2	Missense_Mutation	SNP	ENST00000372735.1	37	CCDS14502.1	.	.	.	.	.	.	.	.	.	.	G	1.823	-0.471646	0.04445	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.28	-3.31	0.04988	.	1.568470	0.04744	N	0.423386	T	0.06371	0.0164	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.32877	-0.9890	9	.	.	.	-6.4705	1.6255	0.02722	0.428:0.2486:0.1954:0.1279	.	49	Q6PI77	BHLH9_HUMAN	R	49	ENSP00000403226:G49R;ENSP00000354675:G49R;ENSP00000405893:G49R;ENSP00000391722:G49R;ENSP00000361820:G49R	.	G	+	1	0	BHLHB9	101890724	0.012000	0.17670	0.000000	0.03702	0.145000	0.21501	0.668000	0.25127	-1.017000	0.03367	-0.494000	0.04653	GGG	.	.		0.502	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057630.1	NM_030639	
TET3	200424	hgsc.bcm.edu	37	2	74275063	74275063	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr2:74275063G>C	ENST00000409262.3	+	1	1614	c.1614G>C	c.(1612-1614)agG>agC	p.R538S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	538					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTCCCTCCAGGGACAGCCTGC	0.647																																					p.R538S		.	.											.	.	.	.	0			c.G1614C						.						24.0	26.0	25.0					2																	74275063		1969	4152	6121	SO:0001583	missense	200424	exon1			CTCCAGGGACAGC		CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1614G>C	2.37:g.74275063G>C	ENSP00000386869:p.Arg538Ser	101.0	0.0		135.0	7.0	NM_144993	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	.	.	.	.	.	.	.	.	.	.	G	7.786	0.710455	0.15239	.	.	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.21361	2.01;2.81	5.29	5.29	0.74685	.	.	.	.	.	T	0.11665	0.0284	N	0.08118	0	0.26247	N	0.978788	B	0.06786	0.001	B	0.06405	0.002	T	0.10382	-1.0632	9	0.09338	T	0.73	.	15.9628	0.79945	0.0:0.0:1.0:0.0	.	538	O43151	TET3_HUMAN	S	580;538;538	ENSP00000307803:R580S;ENSP00000386869:R538S	ENSP00000233310:R538S	R	+	3	2	TET3	74128571	0.862000	0.29867	1.000000	0.80357	0.993000	0.82548	2.284000	0.43478	2.746000	0.94184	0.591000	0.81541	AGG	.	.		0.647	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
ARR3	407	hgsc.bcm.edu	37	X	69501565	69501565	+	Silent	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:69501565C>T	ENST00000307959.8	+	17	1167	c.1116C>T	c.(1114-1116)ggC>ggT	p.G372G	RAB41_ENST00000276066.4_5'Flank|RAB41_ENST00000374473.2_5'Flank	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	372					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						CGCGGAAAGGCGAGGAGGAGA	0.582																																					p.G372G		.	.											.	ARR3	.	.	0			c.C1116T						.						77.0	52.0	60.0					X																	69501565		2195	4292	6487	SO:0001819	synonymous_variant	407	exon17			GAAAGGCGAGGAG		CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.1116C>T	X.37:g.69501565C>T		89.0	0.0		100.0	25.0	NM_004312	B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Silent	SNP	ENST00000307959.8	37	CCDS14399.1																																																																																			.	.		0.582	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057055.2	NM_004312	
NACA	4666	hgsc.bcm.edu	37	12	57115063	57115063	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr12:57115063T>A	ENST00000454682.1	-	3	532	c.251A>T	c.(250-252)cAg>cTg	p.Q84L	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Missense_Mutation_p.Q84L|NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	84	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGAGGATGACTGGGGAAAAGG	0.567			T	BCL6	NHL																																p.Q84L		.	.		Dom	yes		12	12q23-q24.1	4666	nascent-polypeptide-associated complex alpha polypeptide		L	.	NACA	.	.	0			c.A251T						.						62.0	59.0	60.0					12																	57115063		1568	3582	5150	SO:0001583	missense	4666	exon3			GATGACTGGGGAA	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.251A>T	12.37:g.57115063T>A	ENSP00000403817:p.Gln84Leu	48.0	0.0		61.0	8.0	NM_001113203		Missense_Mutation	SNP	ENST00000454682.1	37		.	.	.	.	.	.	.	.	.	.	T	10.18	1.280477	0.23392	.	.	ENSG00000196531	ENST00000454682;ENST00000550952	T;T	0.62639	0.01;0.62	3.22	1.98	0.26296	.	.	.	.	.	T	0.36799	0.0980	N	0.08118	0	0.21105	N	0.999788	B;B	0.29862	0.259;0.011	B;B	0.24394	0.053;0.01	T	0.26121	-1.0112	9	0.87932	D	0	.	5.4196	0.16394	0.2506:0.0:0.0:0.7494	.	84;84	E9PAV3;F8VU71	.;.	L	84	ENSP00000403817:Q84L;ENSP00000448035:Q84L	ENSP00000403817:Q84L	Q	-	2	0	NACA	55401330	0.983000	0.35010	0.954000	0.39281	0.318000	0.28184	0.836000	0.27545	0.402000	0.25451	0.254000	0.18369	CAG	.	.		0.567	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594	
GPR173	54328	hgsc.bcm.edu	37	X	53106558	53106558	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:53106558G>A	ENST00000332582.4	+	2	1246	c.755G>A	c.(754-756)gGg>gAg	p.G252E		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	252					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						TTTGGCCGTGGGCCCATGCCA	0.657																																					p.G252E		.	.											.	GPR173	.	.	0			c.G755A						.						30.0	25.0	27.0					X																	53106558		2193	4292	6485	SO:0001583	missense	54328	exon2			GCCGTGGGCCCAT	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.755G>A	X.37:g.53106558G>A	ENSP00000331600:p.Gly252Glu	40.0	0.0		49.0	10.0	NM_018969	B1B0A5	Missense_Mutation	SNP	ENST00000332582.4	37	CCDS14349.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769867	0.69992	.	.	ENSG00000184194	ENST00000332582	T	0.47177	0.85	5.03	5.03	0.67393	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64601	-0.6369	10	0.23891	T	0.37	-6.4962	14.8667	0.70422	0.0:0.0:1.0:0.0	.	252	Q9NS66	GP173_HUMAN	E	252	ENSP00000331600:G252E	ENSP00000331600:G252E	G	+	2	0	GPR173	53123283	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.094000	0.63399	0.529000	0.55759	GGG	.	.		0.657	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056717.2	NM_018969	
GRAMD2	196996	hgsc.bcm.edu	37	15	72455767	72455767	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr15:72455767G>A	ENST00000309731.7	-	10	809	c.796C>T	c.(796-798)Ccc>Tcc	p.P266S	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	266						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTGGCATGGGCCATGCCCAC	0.532																																					p.P266S		.	.											.	GRAMD2	.	.	0			c.C796T						.						100.0	105.0	103.0					15																	72455767		2199	4297	6496	SO:0001583	missense	196996	exon10			GCATGGGCCATGC	AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.796C>T	15.37:g.72455767G>A	ENSP00000311657:p.Pro266Ser	71.0	0.0		110.0	36.0	NM_001012642	B3KT68	Missense_Mutation	SNP	ENST00000309731.7	37	CCDS32283.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.363682	0.01235	.	.	ENSG00000175318	ENST00000309731	T	0.28069	1.63	3.07	2.1	0.27182	.	7.794120	0.00166	N	0.000001	T	0.20210	0.0486	N	0.22421	0.69	0.09310	N	1	B	0.22276	0.067	B	0.18561	0.022	T	0.20306	-1.0279	10	0.06891	T	0.86	.	7.2428	0.26106	0.1437:0.0:0.8563:0.0	.	266	Q8IUY3	GRAM2_HUMAN	S	266	ENSP00000311657:P266S	ENSP00000311657:P266S	P	-	1	0	GRAMD2	70242821	0.000000	0.05858	0.030000	0.17652	0.067000	0.16453	0.213000	0.17521	0.817000	0.34445	0.655000	0.94253	CCC	.	.		0.532	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420040.1	NM_001012642	
PCDHAC1	56135	hgsc.bcm.edu	37	5	140307840	140307840	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:140307840G>C	ENST00000253807.2	+	1	1363	c.1363G>C	c.(1363-1365)Gct>Cct	p.A455P	PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.A455P|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	455	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTTTCGTTGCTGAAAACAA	0.517																																					p.A455P		.	.											.	PCDHAC1	.	.	0			c.G1363C						.						64.0	69.0	67.0					5																	140307840		2203	4300	6503	SO:0001583	missense	56135	exon1			TTCGTTGCTGAAA	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.1363G>C	5.37:g.140307840G>C	ENSP00000253807:p.Ala455Pro	34.0	0.0		57.0	6.0	NM_031882	Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	9.142	1.014065	0.19277	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.03330	3.97;3.97	5.54	5.54	0.83059	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.01940	0.0061	N	0.01438	-0.865	0.23464	N	0.997621	B;B	0.06786	0.001;0.0	B;B	0.12156	0.007;0.004	T	0.49513	-0.8932	9	0.22109	T	0.4	.	13.7462	0.62876	0.0735:0.0:0.9265:0.0	.	455;455	Q9H158;Q9H158-2	PCDC1_HUMAN;.	P	455	ENSP00000386356:A455P;ENSP00000253807:A455P	ENSP00000253807:A455P	A	+	1	0	PCDHAC1	140288024	0.003000	0.15002	1.000000	0.80357	0.934000	0.57294	0.556000	0.23438	2.599000	0.87857	0.462000	0.41574	GCT	.	.		0.517	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
HECTD1	25831	hgsc.bcm.edu	37	14	31570253	31570253	+	Missense_Mutation	SNP	G	G	T	rs11549801		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr14:31570253G>T	ENST00000399332.1	-	43	8204	c.7716C>A	c.(7714-7716)agC>agA	p.S2572R	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2572R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2572	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGATGGATAGCTTGCATCAG	0.383																																					p.S2572R		.	.											.	HECTD1	.	.	0			c.C7716A						.						109.0	100.0	103.0					14																	31570253		1940	4153	6093	SO:0001583	missense	25831	exon43			TGGATAGCTTGCA	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.7716C>A	14.37:g.31570253G>T	ENSP00000382269:p.Ser2572Arg	92.0	0.0		87.0	4.0	NM_015382	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.89|14.89	2.669368|2.669368	0.47677|0.47677	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332;ENST00000399323	.|T;T	.|0.54479	.|0.57;0.57	5.81|5.81	4.74|4.74	0.60224|0.60224	.|HECT (4);	.|0.000000	.|0.85682	.|U	.|0.000000	T|T	0.49966|0.49966	0.1588|0.1588	N|N	0.05608|0.05608	-0.0099999999999999|-0.0099999999999999	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.67145	.|0.996	.|D	.|0.75020	.|0.985	T|T	0.47947|0.47947	-0.9077|-0.9077	5|10	.|0.26408	.|T	.|0.33	-7.7378|-7.7378	13.504|13.504	0.61474|0.61474	0.117:0.0:0.883:0.0|0.117:0.0:0.883:0.0	.|.	.|2572	.|Q9ULT8	.|HECD1_HUMAN	D|R	938|2572;2574;2572;133	.|ENSP00000450697:S2572R;ENSP00000382269:S2572R	.|ENSP00000261312:S2574R	A|S	-|-	2|3	0|2	HECTD1|HECTD1	30640004|30640004	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.728000|3.728000	0.54991|0.54991	2.743000|2.743000	0.94032|0.94032	0.650000|0.650000	0.86243|0.86243	GCT|AGC	.	.		0.383	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1		
OVOL2	58495	hgsc.bcm.edu	37	20	18005322	18005322	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr20:18005322G>C	ENST00000278780.6	-	4	1028	c.786C>G	c.(784-786)caC>caG	p.H262Q	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	262					angiogenesis (GO:0001525)|dorsal/ventral pattern formation (GO:0009953)|embryonic digestive tract morphogenesis (GO:0048557)|endocardium formation (GO:0060214)|heart looping (GO:0001947)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neural fold formation (GO:0001842)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of keratinocyte proliferation (GO:0010837)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TATTCTCCTGGTGTGCGGATG	0.532																																					p.H262Q		.	.											.	OVOL2	.	.	0			c.C786G						.						99.0	81.0	87.0					20																	18005322		2203	4300	6503	SO:0001583	missense	58495	exon4			CTCCTGGTGTGCG	AK022284	CCDS13132.1	20p11.23	2013-10-17	2013-10-17	2005-05-31	ENSG00000125850	ENSG00000125850		"""Zinc fingers, C2H2-type"""	15804	protein-coding gene	gene with protein product			"""zinc finger protein 339"", ""ovo-like 2 (Drosophila)"""	ZNF339			Standard	NM_021220		Approved	bA504H3.3, HOVO2	uc002wqi.1	Q9BRP0	OTTHUMG00000031960	ENST00000278780.6:c.786C>G	20.37:g.18005322G>C	ENSP00000278780:p.His262Gln	237.0	0.0		293.0	22.0	NM_021220	Q5T8B4|Q9BX22|Q9HA54|Q9Y4M0	Missense_Mutation	SNP	ENST00000278780.6	37	CCDS13132.1	.	.	.	.	.	.	.	.	.	.	G	7.012	0.556918	0.13436	.	.	ENSG00000125850	ENST00000278780	T	0.07327	3.2	5.0	1.56	0.23342	.	0.670225	0.14280	N	0.329599	T	0.04137	0.0115	N	0.08118	0	0.21064	N	0.999797	B	0.21381	0.055	B	0.14023	0.01	T	0.44360	-0.9333	10	0.14656	T	0.56	-10.0163	11.7714	0.51960	0.086:0.6517:0.2622:0.0	.	262	Q9BRP0	OVOL2_HUMAN	Q	262	ENSP00000278780:H262Q	ENSP00000278780:H262Q	H	-	3	2	OVOL2	17953322	0.708000	0.27876	0.229000	0.23960	0.108000	0.19459	0.180000	0.16860	0.463000	0.27118	0.467000	0.42956	CAC	.	.		0.532	OVOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078148.5	NM_021220	
PSMD13	5719	hgsc.bcm.edu	37	11	251919	251919	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr11:251919G>C	ENST00000532097.1	+	12	1522	c.1018G>C	c.(1018-1020)Gtg>Ctg	p.V340L	PSMD13_ENST00000352303.5_Missense_Mutation_p.V313L|PSMD13_ENST00000532025.1_3'UTR|PSMD13_ENST00000431206.2_Missense_Mutation_p.V342L	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	340					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|meiosis I (GO:0007127)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		GCAGCCCCGAGTGTTGGATTT	0.502																																					p.V342L		.	.											.	PSMD13	.	.	0			c.G1024C						.						161.0	162.0	162.0					11																	251919		2203	4300	6503	SO:0001583	missense	5719	exon10			CCCCGAGTGTTGG	AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.1018G>C	11.37:g.251919G>C	ENSP00000436186:p.Val340Leu	124.0	0.0		196.0	10.0	NM_175932	B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	ENST00000532097.1	37	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.997097	0.74818	.	.	ENSG00000185627	ENST00000532097;ENST00000538343;ENST00000431206;ENST00000352303	T;T;T	0.26373	1.87;1.82;1.74	5.07	5.07	0.68467	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.60663	0.2286	M	0.91038	3.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.87578	0.998;0.993;0.949;0.949	T	0.69289	-0.5184	10	0.62326	D	0.03	.	17.2159	0.86944	0.0:0.0:1.0:0.0	.	342;275;340;340	Q9UNM6-2;B4DJ66;B2RBM7;Q9UNM6	.;.;.;PSD13_HUMAN	L	340;275;342;313	ENSP00000436186:V340L;ENSP00000396937:V342L;ENSP00000333811:V313L	ENSP00000333811:V313L	V	+	1	0	PSMD13	241919	1.000000	0.71417	0.991000	0.47740	0.314000	0.28054	9.086000	0.94088	2.643000	0.89663	0.563000	0.77884	GTG	.	.		0.502	PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817	
LILRB1	10859	hgsc.bcm.edu	37	19	55143640	55143640	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:55143640C>T	ENST00000396331.1	+	6	970	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S	LILRB1_ENST00000448689.1_Missense_Mutation_p.P205S|LILRB1_ENST00000396317.1_Missense_Mutation_p.P205S|LILRB1_ENST00000396327.3_Missense_Mutation_p.P205S|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000427581.2_Missense_Mutation_p.P241S|LILRB1_ENST00000418536.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396332.4_Missense_Mutation_p.P205S|LILRB1_ENST00000434867.2_Missense_Mutation_p.P205S|LILRB1_ENST00000324602.7_Missense_Mutation_p.P205S|LILRB1_ENST00000396321.2_Missense_Mutation_p.P205S|LILRB1_ENST00000396315.1_Missense_Mutation_p.P205S	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	205	Ig-like C2-type 2.				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)	p.P205T(2)		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)		CTCGAACTCTCCCTATGAGTG	0.607										HNSCC(37;0.09)																											p.P205S		.	.											.	LILRB1	.	.	2	Substitution - Missense(2)	lung(2)	c.C613T						.						157.0	155.0	156.0					19																	55143640		2203	4300	6503	SO:0001583	missense	10859	exon5			AACTCTCCCTATG	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.613C>T	19.37:g.55143640C>T	ENSP00000379622:p.Pro205Ser	280.0	0.0		290.0	69.0	NM_001081637	A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	5.476	0.272920	0.10349	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94;1.94	1.49	0.396	0.16309	Immunoglobulin-like fold (1);	0.431079	0.19689	N	0.108302	T	0.21881	0.0527	M	0.64630	1.985	0.09310	N	1	D;P;P;P;B	0.55172	0.97;0.662;0.92;0.637;0.327	P;B;B;B;B	0.47470	0.548;0.096;0.186;0.082;0.044	T	0.10847	-1.0612	10	0.56958	D	0.05	.	3.6471	0.08189	0.0:0.7403:0.0:0.2597	.	205;205;205;205;205	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	S	205;205;205;205;205;205;205;205;241;205;205	ENSP00000379614:P205S;ENSP00000391514:P205S;ENSP00000409968:P205S;ENSP00000379622:P205S;ENSP00000379618:P205S;ENSP00000315997:P205S;ENSP00000405243:P205S;ENSP00000379623:P205S;ENSP00000395004:P241S;ENSP00000379610:P205S;ENSP00000379608:P205S	ENSP00000315997:P205S	P	+	1	0	LILRB1	59835452	0.000000	0.05858	0.002000	0.10522	0.012000	0.07955	-0.125000	0.10579	0.181000	0.19994	0.184000	0.17185	CCC	.	.		0.607	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
DMD	1756	hgsc.bcm.edu	37	X	31165436	31165436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:31165436G>A	ENST00000357033.4	-	75	10959	c.10753C>T	c.(10753-10755)Cag>Tag	p.Q3585*	DMD_ENST00000378723.3_Nonsense_Mutation_p.Q517*|DMD_ENST00000343523.2_Nonsense_Mutation_p.Q1015*|DMD_ENST00000378702.4_Nonsense_Mutation_p.Q517*|DMD_ENST00000378677.2_Nonsense_Mutation_p.Q3581*|DMD_ENST00000378680.2_Nonsense_Mutation_p.Q407*|DMD_ENST00000541735.1_Nonsense_Mutation_p.Q1015*|DMD_ENST00000474231.1_Nonsense_Mutation_p.Q1125*|DMD_ENST00000378707.3_Nonsense_Mutation_p.Q1125*|DMD_ENST00000361471.4_Nonsense_Mutation_p.Q504*|DMD_ENST00000359836.1_Nonsense_Mutation_p.Q1112*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	3585					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GACTCCAGCTGTTTATTGTGG	0.493																																					p.Q3585X		.	.											.	DMD	.	.	0			c.C10753T						.						90.0	81.0	84.0					X																	31165436		2202	4300	6502	SO:0001587	stop_gained	1756	exon75			CCAGCTGTTTATT	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.10753C>T	X.37:g.31165436G>A	ENSP00000354923:p.Gln3585*	154.0	0.0		165.0	10.0	NM_004006	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Nonsense_Mutation	SNP	ENST00000357033.4	37	CCDS14233.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	53|53	21.192109|21.192109	0.99938|0.99938	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378723;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000378702;ENST00000474231;ENST00000361471;ENST00000378680|ENST00000465285	.|.	.|.	.|.	4.62|4.62	4.62|4.62	0.57501|0.57501	.|.	0.000000|.	0.33515|.	U|.	0.004830|.	.|T	.|0.71668	.|0.3367	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74856	.|-0.3522	.|3	0.22706|.	T|.	0.39|.	.|.	16.7086|16.7086	0.85379|0.85379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	3577;2244;2241;517;1268;3581;3585;1112;1015;3585;3462;1125;1015;517;1125;504;407|1313	.|.	ENSP00000340057:Q1015X|.	Q|T	-|-	1|2	0|0	DMD|DMD	31075357|31075357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.657000|9.657000	0.98554|0.98554	2.118000|2.118000	0.64928|0.64928	0.513000|0.513000	0.50165|0.50165	CAG|ACA	.	.		0.493	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
SLITRK2	84631	hgsc.bcm.edu	37	X	144903985	144903985	+	Silent	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:144903985C>A	ENST00000370490.1	+	1	4297	c.42C>A	c.(40-42)gcC>gcA	p.A14A	SLITRK2_ENST00000434188.2_Silent_p.A14A|SLITRK2_ENST00000447897.2_Silent_p.A14A|SLITRK2_ENST00000428560.2_Silent_p.A14A|SLITRK2_ENST00000413937.2_Silent_p.A14A			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	14					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TAACCGTGGCCGGGATCTTAC	0.502																																					p.A14A		.	.											.	SLITRK2	.	.	0			c.C42A						.						62.0	58.0	60.0					X																	144903985		2203	4300	6503	SO:0001819	synonymous_variant	84631	exon5			CGTGGCCGGGATC	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.42C>A	X.37:g.144903985C>A		167.0	0.0		199.0	37.0	NM_001144005	A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	CCDS14680.1																																																																																			.	.		0.502	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539	
RIMS2	9699	hgsc.bcm.edu	37	8	104930679	104930679	+	Silent	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:104930679C>A	ENST00000436393.2	+	7	1622	c.1381C>A	c.(1381-1383)Cga>Aga	p.R461R	RIMS2_ENST00000262231.10_Silent_p.R538R|RIMS2_ENST00000406091.3_Silent_p.R683R|RIMS2_ENST00000507740.1_Silent_p.R491R			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	761					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATATACCGCGAATACCTGA	0.299										HNSCC(12;0.0054)																											p.R683R		.	.											.	RIMS2	.	.	0			c.C2047A						.						96.0	94.0	95.0					8																	104930679		1808	4085	5893	SO:0001819	synonymous_variant	9699	exon9			ATACCGCGAATAC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1381C>A	8.37:g.104930679C>A		121.0	0.0		121.0	25.0	NM_001100117	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	ENST00000436393.2	37																																																																																				.	.		0.299	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1	NM_001100117	
FADD	8772	hgsc.bcm.edu	37	11	70049591	70049591	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr11:70049591A>G	ENST00000301838.4	+	1	323	c.26A>G	c.(25-27)cAc>cGc	p.H9R	RP11-805J14.5_ENST00000526174.1_RNA	NM_003824.3	NP_003815.1	Q13158	FADD_HUMAN	Fas (TNFRSF6)-associated via death domain	9	DED. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|motor neuron apoptotic process (GO:0097049)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of necroptotic process (GO:0060546)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000454)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of proteolysis (GO:0045862)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|protein heterooligomerization (GO:0051291)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|ripoptosome (GO:0097342)	death effector domain binding (GO:0035877)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|tumor necrosis factor receptor superfamily binding (GO:0032813)			endometrium(1)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(2)	9	Esophageal squamous(2;1.19e-45)		LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GTGCTGCTGCACTCGGTGTCG	0.721																																					p.H9R		.	.											.	FADD	.	.	0			c.A26G						.						10.0	8.0	9.0					11																	70049591		2162	4215	6377	SO:0001583	missense	8772	exon1			TGCTGCACTCGGT	U24231	CCDS8196.1	11q13.3	2014-09-17			ENSG00000168040	ENSG00000168040			3573	protein-coding gene	gene with protein product	"""Fas-associating protein with death domain"", ""Fas-associating death domain-containing protein"", ""mediator of receptor-induced toxicity"", ""growth-inhibiting gene 3 protein"""	602457				7536190, 7538907	Standard	NM_003824		Approved	MORT1, GIG3	uc001opm.2	Q13158	OTTHUMG00000167264	ENST00000301838.4:c.26A>G	11.37:g.70049591A>G	ENSP00000301838:p.His9Arg	53.0	0.0		56.0	10.0	NM_003824	Q14866|Q6IBR4	Missense_Mutation	SNP	ENST00000301838.4	37	CCDS8196.1	.	.	.	.	.	.	.	.	.	.	A	9.187	1.025171	0.19433	.	.	ENSG00000168040	ENST00000301838	D	0.82255	-1.59	4.39	4.39	0.52855	DEATH-like (2);Death effector (3);	0.135643	0.49305	D	0.000156	D	0.85318	0.5669	M	0.68317	2.08	0.34444	D	0.699976	D	0.76494	0.999	D	0.63488	0.915	D	0.84295	0.0502	10	0.09590	T	0.72	-39.3521	7.5388	0.27727	0.8087:0.0:0.0:0.1913	.	9	Q13158	FADD_HUMAN	R	9	ENSP00000301838:H9R	ENSP00000301838:H9R	H	+	2	0	FADD	69727239	0.836000	0.29430	0.996000	0.52242	0.931000	0.56810	1.406000	0.34646	1.752000	0.51891	0.402000	0.26972	CAC	.	.		0.721	FADD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393902.1	NM_003824	
CXorf30	645090	hgsc.bcm.edu	37	X	36319234	36319234	+	Missense_Mutation	SNP	A	A	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:36319234A>T	ENST00000378657.4	+	7	896	c.248A>T	c.(247-249)aAg>aTg	p.K83M		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	83										breast(1)|lung(2)|stomach(1)	4						TATTTACTGAAGTTAACTATT	0.343																																					p.K83M		.	.											.	CXorf30	.	.	0			c.A248T						.						149.0	120.0	129.0					X																	36319234		692	1591	2283	SO:0001583	missense	645090	exon8			TACTGAAGTTAAC		CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.248A>T	X.37:g.36319234A>T	ENSP00000367926:p.Lys83Met	251.0	0.0		284.0	16.0	NM_001098843		Missense_Mutation	SNP	ENST00000378657.4	37	CCDS55396.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666096	0.47677	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.25579	1.79;1.8	5.83	-2.74	0.05932	.	.	.	.	.	T	0.14141	0.0342	N	0.14661	0.345	0.09310	N	1	P	0.51537	0.946	P	0.44561	0.453	T	0.14952	-1.0454	9	0.56958	D	0.05	.	5.8305	0.18579	0.4671:0.0:0.4016:0.1313	.	83	A6PW82	CX030_HUMAN	M	368;83	ENSP00000367922:K368M;ENSP00000367926:K83M	ENSP00000367922:K368M	K	+	2	0	CXorf30	36229155	0.426000	0.25506	0.000000	0.03702	0.003000	0.03518	0.221000	0.17680	-0.993000	0.03467	-1.033000	0.02402	AAG	.	.		0.343	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NP_001092313	
OR4K17	390436	hgsc.bcm.edu	37	14	20586348	20586348	+	Silent	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr14:20586348T>C	ENST00000315543.4	+	1	783	c.783T>C	c.(781-783)ccT>ccC	p.P261P		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ACCACTCTCCTACTGGGCAAT	0.443																																					p.P261P		.	.											OR4K17,arm,malignant_melanoma,+2	OR4K17	.	.	0			c.T783C						.						144.0	137.0	140.0					14																	20586348		2203	4300	6503	SO:0001819	synonymous_variant	390436	exon1			CTCTCCTACTGGG		CCDS32030.1	14q11.2	2013-09-23			ENSG00000176230	ENSG00000176230		"""GPCR / Class A : Olfactory receptors"""	15355	protein-coding gene	gene with protein product							Standard	NM_001004715		Approved		uc001vwo.1	Q8NGC6	OTTHUMG00000170783	ENST00000315543.4:c.783T>C	14.37:g.20586348T>C		145.0	0.0		150.0	6.0	NM_001004715	Q6IF12	Silent	SNP	ENST00000315543.4	37	CCDS32030.1																																																																																			.	.		0.443	OR4K17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410346.1		
FBN2	2201	hgsc.bcm.edu	37	5	127686699	127686699	+	Splice_Site	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:127686699T>C	ENST00000508053.1	-	27	3649		c.e27-2		FBN2_ENST00000508989.1_Splice_Site|FBN2_ENST00000262464.4_Splice_Site			P35556	FBN2_HUMAN	fibrillin 2						anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCAGGCTGTCTGAAAAGGAAC	0.453																																					.		.	.											.	FBN2	.	.	0			c.2675-2A>G						.						62.0	65.0	64.0					5																	127686699		2203	4300	6503	SO:0001630	splice_region_variant	2201	exon22			GCTGTCTGAAAAG	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2675-2A>G	5.37:g.127686699T>C		51.0	0.0		94.0	6.0	NM_001999	B4DU01|Q59ES6	Splice_Site	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.002478	0.74932	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8805	0.63680	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBN2	127714598	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	7.779000	0.85648	2.014000	0.59158	0.460000	0.39030	.	.	.		0.453	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	Intron
MYOF	26509	hgsc.bcm.edu	37	10	95161196	95161196	+	Nonsense_Mutation	SNP	G	G	A	rs199504349		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr10:95161196G>A	ENST00000359263.4	-	12	1095	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	MYOF_ENST00000371501.4_Nonsense_Mutation_p.R366*|MYOF_ENST00000371489.1_Nonsense_Mutation_p.R366*|MYOF_ENST00000358334.5_Nonsense_Mutation_p.R366*|MYOF_ENST00000371502.4_Nonsense_Mutation_p.R366*	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	366	C2 3. {ECO:0000255|PROSITE- ProRule:PRU00041}.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCCTCAGCTCGGTAGATTTTC	0.423																																					p.R366X		.	.											.	MYOF	.	.	0			c.C1096T						.						115.0	111.0	113.0					10																	95161196		1918	4134	6052	SO:0001587	stop_gained	26509	exon12			CAGCTCGGTAGAT	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.1096C>T	10.37:g.95161196G>A	ENSP00000352208:p.Arg366*	56.0	0.0		98.0	28.0	NM_133337	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Nonsense_Mutation	SNP	ENST00000359263.4	37	CCDS41551.1	.	.	.	.	.	.	.	.	.	.	G	38	6.761573	0.97821	.	.	ENSG00000138119	ENST00000358334;ENST00000359263;ENST00000371501;ENST00000371502;ENST00000371489	.	.	.	5.64	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.56	12.5443	0.56190	0.0:0.0:0.4562:0.5438	.	.	.	.	X	366	.	ENSP00000351094:R366X	R	-	1	2	MYOF	95151186	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.585000	0.23879	1.571000	0.49722	0.650000	0.86243	CGA	.	.		0.423	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451	
TRGC1	6966	hgsc.bcm.edu	37	7	38305036	38305036	+	RNA	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr7:38305036A>G	ENST00000443402.2	-	0	243					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1	P0CF51	TRGC1_HUMAN	T cell receptor gamma constant 1							integral component of membrane (GO:0016021)											TTCTTTGTCCAGTGACTTTTC	0.408																																					p.L20P		.	.											.	.	.	.	0			c.T59C						.						192.0	180.0	184.0					7																	38305036		1844	4101	5945			0	exon2			TTGTCCAGTGACT	M14996		7p14	2012-02-07			ENSG00000211689	ENSG00000211689		"""T cell receptors / TRG locus"""	12275	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C1"""	186970		TCRGC1		2879283	Standard	NG_001336		Approved	C1		P0CF51	OTTHUMG00000155219		7.37:g.38305036A>G		181.0	0.0		240.0	65.0	NM_001003806		Missense_Mutation	SNP	ENST00000443402.2	37																																																																																				.	.		0.408	TRGC1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338825.3	NG_001336	
PKHD1L1	93035	hgsc.bcm.edu	37	8	110417294	110417294	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:110417294C>T	ENST00000378402.5	+	16	1708	c.1604C>T	c.(1603-1605)cCa>cTa	p.P535L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	535					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTAACCAGCCCATGTGTGGAA	0.299										HNSCC(38;0.096)																											p.P535L		.	.											.	PKHD1L1	.	.	0			c.C1604T						.						31.0	30.0	30.0					8																	110417294		1810	4066	5876	SO:0001583	missense	93035	exon16			CCAGCCCATGTGT	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1604C>T	8.37:g.110417294C>T	ENSP00000367655:p.Pro535Leu	97.0	0.0		99.0	24.0	NM_177531	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600458	0.46423	.	.	ENSG00000205038	ENST00000378402	D	0.84800	-1.9	5.8	5.8	0.92144	.	0.278061	0.36519	N	0.002559	D	0.83027	0.5165	M	0.70595	2.14	0.35090	D	0.764237	B	0.22480	0.07	B	0.15484	0.013	D	0.83584	0.0119	10	0.49607	T	0.09	.	10.9095	0.47099	0.0:0.9151:0.0:0.0849	.	535	Q86WI1	PKHL1_HUMAN	L	535	ENSP00000367655:P535L	ENSP00000367655:P535L	P	+	2	0	PKHD1L1	110486470	0.878000	0.30173	0.972000	0.41901	0.974000	0.67602	3.024000	0.49674	2.752000	0.94435	0.650000	0.86243	CCA	.	.		0.299	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
PKHD1L1	93035	hgsc.bcm.edu	37	8	110539189	110539189	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:110539189G>T	ENST00000378402.5	+	77	12765	c.12661G>T	c.(12661-12663)Gga>Tga	p.G4221*		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4221					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTGTCTGGTTGGAAGAATGTG	0.403										HNSCC(38;0.096)																											p.G4221X		.	.											.	PKHD1L1	.	.	0			c.G12661T						.						89.0	94.0	92.0					8																	110539189		1987	4190	6177	SO:0001587	stop_gained	93035	exon77			CTGGTTGGAAGAA	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.12661G>T	8.37:g.110539189G>T	ENSP00000367655:p.Gly4221*	123.0	0.0		127.0	28.0	NM_177531	Q567P2|Q9UF27	Nonsense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	32	5.153435	0.94645	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	.	.	.	5.64	4.75	0.60458	.	0.510568	0.17727	N	0.164015	.	.	.	.	.	.	0.58432	A	0.999992	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.5101	0.56002	0.0:0.1676:0.8324:0.0	.	.	.	.	X	4221;1149	.	ENSP00000367655:G4221X	G	+	1	0	PKHD1L1	110608365	0.998000	0.40836	0.333000	0.25482	0.227000	0.25037	3.285000	0.51716	1.338000	0.45544	0.650000	0.86243	GGA	.	.		0.403	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
GLI3	2737	hgsc.bcm.edu	37	7	42262748	42262748	+	Silent	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr7:42262748G>A	ENST00000395925.3	-	2	189	c.105C>T	c.(103-105)gcC>gcT	p.A35A	GLI3_ENST00000437480.1_Silent_p.A35A	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	35					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGTGCTGGAGGCAACGGCTT	0.507									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																												p.A35A		.	.											.	GLI3	.	.	0			c.C105T						.						215.0	200.0	205.0					7																	42262748		2203	4300	6503	SO:0001819	synonymous_variant	2737	exon2	Familial Cancer Database	;	GCTGGAGGCAACG		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.105C>T	7.37:g.42262748G>A		96.0	0.0		81.0	23.0	NM_000168	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																			.	.		0.507	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
TRAPPC8	22878	hgsc.bcm.edu	37	18	29419280	29419280	+	Silent	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr18:29419280T>C	ENST00000283351.4	-	27	4313	c.3978A>G	c.(3976-3978)caA>caG	p.Q1326Q	TRAPPC8_ENST00000582539.1_Silent_p.Q1272Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1326					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CAAACCTTTTTTGATGAAATG	0.338																																					p.Q1326Q		.	.											.	TRAPPC8	.	.	0			c.A3978G						.						92.0	96.0	95.0					18																	29419280		2203	4300	6503	SO:0001819	synonymous_variant	22878	exon27			CCTTTTTTGATGA	AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3978A>G	18.37:g.29419280T>C		41.0	0.0		50.0	19.0	NM_014939	A0JP15|B3KME5|Q9H0L2	Silent	SNP	ENST00000283351.4	37	CCDS11901.1																																																																																			.	.		0.338	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939	
FUK	197258	hgsc.bcm.edu	37	16	70508239	70508239	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr16:70508239G>T	ENST00000288078.6	+	16	2217	c.1985G>T	c.(1984-1986)aGc>aTc	p.S662I	FUK_ENST00000378912.2_Missense_Mutation_p.S694I|FUK_ENST00000571514.1_Missense_Mutation_p.S153I	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	662						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				AAGTGGCTAAGCAGGTGTGTA	0.602																																					p.S662I		.	.											.	FUK	.	.	0			c.G1985T						.						20.0	25.0	23.0					16																	70508239		2044	4186	6230	SO:0001583	missense	197258	exon16			GGCTAAGCAGGTG		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.1985G>T	16.37:g.70508239G>T	ENSP00000288078:p.Ser662Ile	85.0	0.0		94.0	4.0	NM_145059	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	ENST00000288078.6	37	CCDS10891.2	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041285	0.55003	.	.	ENSG00000157353	ENST00000288078;ENST00000378912	T;T	0.08546	3.12;3.08	5.74	3.74	0.42951	.	0.198587	0.51477	D	0.000087	T	0.09024	0.0223	L	0.55481	1.735	0.80722	D	1	P;P;P	0.46706	0.883;0.664;0.498	B;B;B	0.40038	0.317;0.246;0.312	T	0.07252	-1.0782	10	0.56958	D	0.05	-25.636	8.2473	0.31695	0.1354:0.1404:0.7242:0.0	.	694;568;662	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	I	662;694	ENSP00000288078:S662I;ENSP00000368192:S694I	ENSP00000288078:S662I	S	+	2	0	FUK	69065740	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.924000	0.48876	1.399000	0.46721	0.655000	0.94253	AGC	.	.		0.602	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
ZAR1L	646799	hgsc.bcm.edu	37	13	32878064	32878064	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr13:32878064G>C	ENST00000533490.2	-	6	1336	c.918C>G	c.(916-918)gaC>gaG	p.D306E	ZAR1L_ENST00000345108.6_Missense_Mutation_p.D306E			A6NP61	ZAR1L_HUMAN	zygote arrest 1-like	306						cytoplasm (GO:0005737)				NS(1)|kidney(1)	2						AGAATCTCTTGTCTTTGCAGC	0.428																																					p.D306E		.	.											.	ZAR1L	.	.	0			c.C918G						.						131.0	105.0	113.0					13																	32878064		692	1591	2283	SO:0001583	missense	646799	exon4			TCTCTTGTCTTTG		CCDS45023.1	13q13.1	2014-02-20			ENSG00000189167	ENSG00000189167			37116	protein-coding gene	gene with protein product	"""zinc finger, 3CxxC-type 7"""					18442940	Standard	NM_001136571		Approved	Z3CXXC7	uc010abc.1	A6NP61	OTTHUMG00000016694	ENST00000533490.2:c.918C>G	13.37:g.32878064G>C	ENSP00000437289:p.Asp306Glu	108.0	0.0		89.0	7.0	NM_001136571	B2RV03|B7ZBU2	Missense_Mutation	SNP	ENST00000533490.2	37	CCDS45023.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274874	0.59649	.	.	ENSG00000189167	ENST00000345108	T	0.21361	2.01	5.61	3.77	0.43336	.	0.211497	0.40222	N	0.001153	T	0.28200	0.0696	L	0.40543	1.245	0.26185	N	0.979676	D	0.54964	0.969	P	0.56278	0.795	T	0.03545	-1.1026	10	0.40728	T	0.16	-24.6654	10.6721	0.45764	0.0715:0.1329:0.7956:0.0	.	306	A6NP61	ZAR1L_HUMAN	E	306	ENSP00000344616:D306E	ENSP00000344616:D306E	D	-	3	2	ZAR1L	31776064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.752000	0.38349	1.378000	0.46305	0.563000	0.77884	GAC	.	.		0.428	ZAR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044403.5		
KIAA1244	57221	hgsc.bcm.edu	37	6	138640960	138640960	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:138640960C>T	ENST00000251691.4	+	28	4761	c.4595C>T	c.(4594-4596)gCt>gTt	p.A1532V		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTCAAGCACGCTATTGGTCTG	0.502																																					p.A1532V		.	.											.	KIAA1244	.	.	0			c.C4595T						.						146.0	138.0	140.0					6																	138640960		2203	4300	6503	SO:0001583	missense	57221	exon28			AGCACGCTATTGG	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.4595C>T	6.37:g.138640960C>T	ENSP00000251691:p.Ala1532Val	168.0	0.0		182.0	61.0	NM_020340		Missense_Mutation	SNP	ENST00000251691.4	37	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907619	0.92107	.	.	ENSG00000112379	ENST00000251691	T	0.21031	2.03	5.4	5.4	0.78164	.	0.053335	0.85682	D	0.000000	T	0.36524	0.0970	L	0.53249	1.67	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.05989	-1.0852	10	0.59425	D	0.04	-30.519	19.5504	0.95315	0.0:1.0:0.0:0.0	.	1532	Q5TH69	BIG3_HUMAN	V	1532	ENSP00000251691:A1532V	ENSP00000251691:A1532V	A	+	2	0	KIAA1244	138682653	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	7.600000	0.82769	2.688000	0.91661	0.655000	0.94253	GCT	.	.		0.502	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340	
AMOT	154796	hgsc.bcm.edu	37	X	112022293	112022293	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:112022293C>G	ENST00000524145.1	-	11	3163	c.3089G>C	c.(3088-3090)aGt>aCt	p.S1030T	MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Missense_Mutation_p.S798T|AMOT_ENST00000371959.3_Missense_Mutation_p.S1030T|AMOT_ENST00000304758.1_Missense_Mutation_p.S621T			Q4VCS5	AMOT_HUMAN	angiomotin	1030					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)	p.S621N(1)|p.S1030N(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GGTAGCTGGACTTGCAGGAAC	0.527																																					p.S1030T		.	.											.	AMOT	.	.	2	Substitution - Missense(2)	skin(2)	c.G3089C						.						115.0	107.0	109.0					X																	112022293		2203	4300	6503	SO:0001583	missense	154796	exon10			GCTGGACTTGCAG	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.3089G>C	X.37:g.112022293C>G	ENSP00000429013:p.Ser1030Thr	259.0	0.0		252.0	43.0	NM_001113490	Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831304	0.32329	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145	T;T;T;T	0.46063	0.88;2.28;2.54;2.28	4.28	0.247	0.15521	.	0.705051	0.13947	N	0.351777	T	0.19644	0.0472	N	0.19112	0.55	0.20196	N	0.999923	B	0.02656	0.0	B	0.04013	0.001	T	0.30937	-0.9961	10	0.02654	T	1	0.0862	6.2461	0.20818	0.0:0.3096:0.4931:0.1973	.	1030	Q4VCS5	AMOT_HUMAN	T	621;1030;798;1030	ENSP00000305557:S621T;ENSP00000361027:S1030T;ENSP00000361030:S798T;ENSP00000429013:S1030T	ENSP00000305557:S621T	S	-	2	0	AMOT	111908949	0.818000	0.29161	0.980000	0.43619	0.980000	0.70556	-0.107000	0.10873	-0.083000	0.12618	0.529000	0.55759	AGT	.	.		0.527	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265	
PLCE1	51196	hgsc.bcm.edu	37	10	96084287	96084287	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr10:96084287C>A	ENST00000371380.3	+	30	6918	c.6683C>A	c.(6682-6684)gCa>gAa	p.A2228E	PLCE1_ENST00000260766.3_Missense_Mutation_p.A2228E|PLCE1_ENST00000371385.3_Missense_Mutation_p.A1920E|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.A1920E			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	2228	Ras-associating 2. {ECO:0000255|PROSITE- ProRule:PRU00166}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAAAGGTGCAGGAAAATTC	0.423																																					p.A2228E		.	.											.	PLCE1	.	.	0			c.C6683A						.						138.0	137.0	137.0					10																	96084287		1879	4109	5988	SO:0001583	missense	51196	exon31			AAGGTGCAGGAAA		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.6683C>A	10.37:g.96084287C>A	ENSP00000360431:p.Ala2228Glu	59.0	0.0		56.0	24.0	NM_016341	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	ENST00000371380.3	37	CCDS41552.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.685569	0.88639	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.17213	2.29;2.29;2.29;2.29	5.59	5.59	0.84812	Ras-association (3);	0.126776	0.52532	D	0.000068	T	0.35508	0.0934	L	0.39633	1.23	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.74348	0.983;0.922;0.983	T	0.01961	-1.1239	10	0.54805	T	0.06	.	19.2024	0.93715	0.0:1.0:0.0:0.0	.	2212;1920;2228	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	E	2228;2228;1920;1920	ENSP00000260766:A2228E;ENSP00000360431:A2228E;ENSP00000360438:A1920E;ENSP00000360426:A1920E	ENSP00000260766:A2228E	A	+	2	0	PLCE1	96074277	1.000000	0.71417	1.000000	0.80357	0.670000	0.39368	5.731000	0.68554	2.628000	0.89032	0.655000	0.94253	GCA	.	.		0.423	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3	NM_016341	
CAPZB	832	hgsc.bcm.edu	37	1	19746233	19746233	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr1:19746233C>G	ENST00000375142.1	-	2	61	c.15G>C	c.(13-15)caG>caC	p.Q5H	CAPZB_ENST00000433834.1_Missense_Mutation_p.Q34H|CAPZB_ENST00000264202.6_Missense_Mutation_p.Q5H|CAPZB_ENST00000401084.2_Missense_Mutation_p.Q5H|CAPZB_ENST00000264203.3_Missense_Mutation_p.Q31H|CAPZB_ENST00000375144.1_5'UTR|CAPZB_ENST00000482808.1_5'UTR	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	5					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CACAGTCCAGCTGCTGATCAC	0.493																																					p.Q5H		.	.											.	CAPZB	.	.	0			c.G15C						.						62.0	62.0	62.0					1																	19746233		2044	4211	6255	SO:0001583	missense	832	exon2			GTCCAGCTGCTGA	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.15G>C	1.37:g.19746233C>G	ENSP00000364284:p.Gln5His	90.0	0.0		95.0	5.0	NM_004930	Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Missense_Mutation	SNP	ENST00000375142.1	37	CCDS55579.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318273	0.81469	.	.	ENSG00000077549	ENST00000401084;ENST00000264203;ENST00000375142;ENST00000433834;ENST00000375145;ENST00000264202	.	.	.	5.96	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.84474	0.5480	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.97110	1.0;0.992;0.979	D	0.87323	0.2319	9	0.62326	D	0.03	-11.5398	12.8466	0.57833	0.0:0.9215:0.0:0.0785	.	34;31;5	B1AK88;B1AK85;P47756-2	.;.;.	H	5;31;5;34;67;5	.	ENSP00000264202:Q5H	Q	-	3	2	CAPZB	19618820	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.306000	0.59117	1.522000	0.49001	0.655000	0.94253	CAG	.	.		0.493	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1		
STIM2	57620	hgsc.bcm.edu	37	4	27024472	27024472	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr4:27024472T>G	ENST00000467087.1	+	12	2623	c.2095T>G	c.(2095-2097)Tcc>Gcc	p.S699A	STIM2_ENST00000382009.3_Missense_Mutation_p.S794A|STIM2_ENST00000237364.5_Missense_Mutation_p.S786A|STIM2_ENST00000412829.2_3'UTR|STIM2_ENST00000467011.1_3'UTR|STIM2_ENST00000465503.1_Missense_Mutation_p.S707A			Q9P246	STIM2_HUMAN	stromal interaction molecule 2	699					activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|positive regulation of calcium ion transport (GO:0051928)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|store-operated calcium channel activity (GO:0015279)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CACATCATGTTCCTCAGCTGG	0.483																																					p.S707A		.	.											.	STIM2	.	.	0			c.T2119G						.						99.0	91.0	94.0					4																	27024472		2203	4300	6503	SO:0001583	missense	57620	exon13			TCATGTTCCTCAG	AB040915	CCDS3440.1, CCDS3440.2, CCDS54751.1, CCDS54752.1	4p15.2	2013-01-10			ENSG00000109689	ENSG00000109689		"""Sterile alpha motif (SAM) domain containing"""	19205	protein-coding gene	gene with protein product		610841				11463338	Standard	NM_020860		Approved		uc003gsh.4	Q9P246	OTTHUMG00000097805	ENST00000467087.1:c.2095T>G	4.37:g.27024472T>G	ENSP00000419073:p.Ser699Ala	103.0	0.0		118.0	23.0	NM_001169118	A6H8L7|B7ZVY0|Q96BF1|Q9BQH2|Q9H8R1	Missense_Mutation	SNP	ENST00000467087.1	37	CCDS3440.2	.	.	.	.	.	.	.	.	.	.	T	13.25	2.180558	0.38511	.	.	ENSG00000109689	ENST00000467087;ENST00000382009;ENST00000237364;ENST00000465503	T;T;T;T	0.78126	-1.12;-1.15;-1.15;-1.13	5.87	5.87	0.94306	.	0.113494	0.64402	D	0.000009	T	0.71978	0.3404	L	0.27053	0.805	0.80722	D	1	P;P	0.46859	0.817;0.885	B;P	0.48304	0.369;0.573	T	0.75202	-0.3401	10	0.66056	D	0.02	.	10.8542	0.46789	0.0:0.0701:0.0:0.9299	.	794;786	E9PGD0;F5GXJ4	.;.	A	699;794;786;707	ENSP00000419073:S699A;ENSP00000371439:S794A;ENSP00000237364:S786A;ENSP00000417569:S707A	ENSP00000237364:S786A	S	+	1	0	STIM2	26633570	0.997000	0.39634	0.940000	0.37924	0.939000	0.58152	3.157000	0.50716	2.371000	0.80710	0.533000	0.62120	TCC	.	.		0.483	STIM2-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215063.2	NM_020860	
GPR174	84636	hgsc.bcm.edu	37	X	78426850	78426850	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:78426850C>G	ENST00000276077.1	+	1	382	c.346C>G	c.(346-348)Cga>Gga	p.R116G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	116						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTGTGCGACGATTTTGGTT	0.473										HNSCC(63;0.18)																											p.R116G		.	.											.	GPR174	.	.	0			c.C346G						.						215.0	189.0	198.0					X																	78426850		2203	4300	6503	SO:0001583	missense	84636	exon1			GTGCGACGATTTT	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.346C>G	X.37:g.78426850C>G	ENSP00000276077:p.Arg116Gly	445.0	0.0		491.0	124.0	NM_032553	Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	c	14.69	2.610026	0.46527	.	.	ENSG00000147138	ENST00000276077	D	0.97161	-4.27	5.13	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98658	0.9550	M	0.93854	3.465	0.45704	D	0.998618	D	0.89917	1.0	D	0.97110	1.0	D	0.98771	1.0728	10	0.87932	D	0	.	13.4568	0.61204	0.7035:0.2965:0.0:0.0	.	116	Q9BXC1	GP174_HUMAN	G	116	ENSP00000276077:R116G	ENSP00000276077:R116G	R	+	1	2	GPR174	78313506	0.071000	0.21146	0.962000	0.40283	0.977000	0.68977	0.530000	0.23036	0.010000	0.14839	0.534000	0.68092	CGA	.	.		0.473	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
YIPF3	25844	hgsc.bcm.edu	37	6	43480544	43480544	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:43480544G>C	ENST00000372422.2	-	7	917	c.735C>G	c.(733-735)ttC>ttG	p.F245L	YIPF3_ENST00000506469.1_Missense_Mutation_p.F251L|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	245					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			AGAAGAGGTAGAAGAGGGCGT	0.557																																					p.F245L		.	.											.	YIPF3	.	.	0			c.C735G						.						101.0	86.0	91.0					6																	43480544		2203	4300	6503	SO:0001583	missense	25844	exon7			GAGGTAGAAGAGG	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.735C>G	6.37:g.43480544G>C	ENSP00000361499:p.Phe245Leu	155.0	0.0		190.0	37.0	NM_015388	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027438	0.75390	.	.	ENSG00000137207	ENST00000372422;ENST00000506469;ENST00000503972	T;T;T	0.48836	0.81;0.8;1.02	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.59649	0.2209	M	0.73962	2.25	0.80722	D	1	D;D;D	0.56035	0.974;0.974;0.974	D;D;D	0.70487	0.969;0.953;0.969	T	0.64702	-0.6345	10	0.87932	D	0	-16.1626	11.9234	0.52806	0.1263:0.0:0.8737:0.0	.	251;210;245	E7EQR8;Q5JTD5;Q9GZM5	.;.;YIPF3_HUMAN	L	245;251;211	ENSP00000361499:F245L;ENSP00000425494:F251L;ENSP00000421461:F211L	ENSP00000361499:F245L	F	-	3	2	YIPF3	43588522	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.644000	0.61397	2.467000	0.83353	0.563000	0.77884	TTC	.	.		0.557	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388	
SRRM4	84530	hgsc.bcm.edu	37	12	119563215	119563215	+	Missense_Mutation	SNP	G	G	A	rs550204730		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr12:119563215G>A	ENST00000267260.4	+	7	933	c.545G>A	c.(544-546)cGc>cAc	p.R182H	SRRM4_ENST00000537597.1_3'UTR	NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	182	Ser-rich.				cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.R182H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AAGTCTCACCGCCACCGCCAT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15184	0.0		0.0	False		,,,				2504	0.001				p.R182H		.	.											.	SRRM4	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G545A						.						38.0	49.0	45.0					12																	119563215		2004	4161	6165	SO:0001583	missense	84530	exon7			CTCACCGCCACCG	AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.545G>A	12.37:g.119563215G>A	ENSP00000267260:p.Arg182His	70.0	0.0		72.0	23.0	NM_194286	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	G	18.70	3.679542	0.68042	.	.	ENSG00000139767	ENST00000267260	T	0.32515	1.45	5.66	5.66	0.87406	.	0.068529	0.64402	D	0.000014	T	0.50326	0.1609	L	0.53249	1.67	0.42620	D	0.993344	D	0.89917	1.0	D	0.85130	0.997	T	0.36578	-0.9742	10	0.36615	T	0.2	-20.2207	15.2504	0.73539	0.0:0.0:1.0:0.0	.	182	A7MD48	SRRM4_HUMAN	H	182	ENSP00000267260:R182H	ENSP00000267260:R182H	R	+	2	0	SRRM4	118047598	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.257000	0.51500	2.648000	0.89879	0.655000	0.94253	CGC	.	.		0.602	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
MYH15	22989	hgsc.bcm.edu	37	3	108147461	108147461	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:108147461C>G	ENST00000273353.3	-	28	3696	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1214						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1214Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCTCGAGCTCAGCCAGGCTG	0.493																																					p.E1214Q		.	.											.	MYH15	.	.	1	Substitution - Missense(1)	lung(1)	c.G3640C						.						141.0	132.0	135.0					3																	108147461		1933	4148	6081	SO:0001583	missense	22989	exon28			CGAGCTCAGCCAG	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3640G>C	3.37:g.108147461C>G	ENSP00000273353:p.Glu1214Gln	228.0	0.0		297.0	12.0	NM_014981		Missense_Mutation	SNP	ENST00000273353.3	37	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103060	0.37145	.	.	ENSG00000144821	ENST00000273353	D	0.83419	-1.72	5.37	2.64	0.31445	Myosin tail (1);	.	.	.	.	D	0.90442	0.7007	M	0.86343	2.81	0.42253	D	0.99198	D	0.63880	0.993	D	0.69654	0.965	D	0.89990	0.4107	9	0.87932	D	0	.	10.5166	0.44894	0.0:0.791:0.0:0.209	.	1214	Q9Y2K3	MYH15_HUMAN	Q	1214	ENSP00000273353:E1214Q	ENSP00000273353:E1214Q	E	-	1	0	MYH15	109630151	0.953000	0.32496	0.000000	0.03702	0.018000	0.09664	2.188000	0.42612	0.358000	0.24211	-0.142000	0.14014	GAG	.	.		0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988	
GIN1	54826	hgsc.bcm.edu	37	5	102433403	102433403	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:102433403C>T	ENST00000399004.2	-	5	816	c.722G>A	c.(721-723)aGt>aAt	p.S241N	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	241	Integrase catalytic. {ECO:0000255|PROSITE-ProRule:PRU00457}.				DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		GTTAGGTGTACTTTCCGTTGG	0.368																																					p.S241N		.	.											.	GIN1	.	.	0			c.G722A						.						228.0	206.0	213.0					5																	102433403		1896	4125	6021	SO:0001583	missense	54826	exon5			GGTGTACTTTCCG	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.722G>A	5.37:g.102433403C>T	ENSP00000381970:p.Ser241Asn	91.0	0.0		127.0	7.0	NM_017676	B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	C	4.471	0.087301	0.08583	.	.	ENSG00000145723	ENST00000399004	T	0.45276	0.9	5.66	3.87	0.44632	Integrase, catalytic core (1);Ribonuclease H-like (1);	0.293446	0.29002	N	0.013459	T	0.25419	0.0618	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.02450	-1.1157	10	0.33141	T	0.24	-1.3883	12.3179	0.54969	0.0:0.8084:0.1218:0.0698	.	241	Q9NXP7	GIN1_HUMAN	N	241	ENSP00000381970:S241N	ENSP00000381970:S241N	S	-	2	0	GIN1	102461302	0.996000	0.38824	0.431000	0.26735	0.005000	0.04900	0.690000	0.25451	0.320000	0.23234	-0.810000	0.03169	AGT	.	.		0.368	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676	
MICA	100507436	hgsc.bcm.edu	37	6	31378413	31378413	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:31378413C>T	ENST00000449934.2	+	2	218	c.164C>T	c.(163-165)cCc>cTc	p.P55L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GATGGTCAGCCCTTCCTGCGC	0.557																																					p.P55L		.	.											.	.	.	.	0			c.C164T						.						33.0	36.0	35.0					6																	31378413		692	1591	2283	SO:0001583	missense	100507436	exon2			GTCAGCCCTTCCT	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.164C>T	6.37:g.31378413C>T	ENSP00000413079:p.Pro55Leu	217.0	0.0		235.0	56.0	NM_001177519		Missense_Mutation	SNP	ENST00000449934.2	37	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	1.771	-0.484375	0.04383	.	.	ENSG00000204520	ENST00000364810;ENST00000399172;ENST00000449934;ENST00000421350	T;T	0.00675	5.88;5.88	2.89	-3.87	0.04218	.	2.158990	0.02591	N	0.099933	T	0.00178	0.0005	N	0.05230	-0.09	0.09310	N	1	B	0.24533	0.105	B	0.21708	0.036	T	0.44772	-0.9306	10	0.66056	D	0.02	.	3.6447	0.08180	0.1773:0.4171:0.0:0.4056	.	55	Q96QC4	.	L	55;55;55;42	ENSP00000413079:P55L;ENSP00000402410:P42L	ENSP00000365394:P55L	P	+	2	0	MICA	31486392	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-2.758000	0.00787	-0.905000	0.03871	-0.818000	0.03119	CCC	.	.		0.557	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519	
SLC9A6	10479	hgsc.bcm.edu	37	X	135067806	135067806	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:135067806G>A	ENST00000370698.3	+	1	180	c.145G>A	c.(145-147)Gag>Aag	p.E49K	SLC9A6_ENST00000370695.4_Missense_Mutation_p.E49K|SLC9A6_ENST00000370701.1_5'UTR	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	49					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CGGCGGCGGAGAGGCTAGAGC	0.667																																					p.E49K		.	.											.	SLC9A6	.	.	0			c.G145A						.						56.0	56.0	56.0					X																	135067806		2203	4299	6502	SO:0001583	missense	10479	exon1			GGCGGAGAGGCTA	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.145G>A	X.37:g.135067806G>A	ENSP00000359732:p.Glu49Lys	69.0	0.0		60.0	15.0	NM_006359	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	g	11.88	1.771441	0.31320	.	.	ENSG00000198689	ENST00000370698;ENST00000370695	T;T	0.55413	0.52;0.53	4.71	3.57	0.40892	.	0.686932	0.14603	N	0.309493	T	0.33411	0.0862	L	0.29908	0.895	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.28235	-1.0050	10	0.07644	T	0.81	.	6.4153	0.21714	0.1867:0.0:0.8133:0.0	.	49;49	Q92581-2;Q92581	.;SL9A6_HUMAN	K	49	ENSP00000359732:E49K;ENSP00000359729:E49K	ENSP00000359729:E49K	E	+	1	0	SLC9A6	134895472	0.800000	0.28916	0.002000	0.10522	0.807000	0.45602	4.606000	0.61126	0.514000	0.28300	0.373000	0.22412	GAG	.	.		0.667	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359	
PEG3	5178	hgsc.bcm.edu	37	19	57327699	57327699	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:57327699T>A	ENST00000326441.9	-	10	2474	c.2111A>T	c.(2110-2112)cAg>cTg	p.Q704L	ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q704L|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.Q580L|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.Q578L|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	704					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATGAATTTTCTGATGCTCACT	0.428																																					p.Q704L		.	.											.	PEG3	.	.	0			c.A2111T						.						70.0	68.0	69.0					19																	57327699		2203	4300	6503	SO:0001583	missense	5178	exon9			ATTTTCTGATGCT	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2111A>T	19.37:g.57327699T>A	ENSP00000326581:p.Gln704Leu	100.0	0.0		101.0	20.0	NM_001146184	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.092830	0.36952	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.15256	2.44;2.44	4.05	-1.05	0.10036	.	0.925177	0.08914	N	0.875485	T	0.21227	0.0511	M	0.85462	2.755	.	.	.	B;B;B	0.26672	0.006;0.072;0.156	B;B;B	0.21360	0.003;0.021;0.034	T	0.29488	-1.0010	9	0.72032	D	0.01	-8.765	4.9444	0.13982	0.3408:0.0:0.2755:0.3837	.	580;704;639	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	L	704	ENSP00000326581:Q704L;ENSP00000403051:Q704L	ENSP00000326581:Q704L	Q	-	2	0	ZIM2	62019511	0.000000	0.05858	0.179000	0.23059	0.984000	0.73092	-0.672000	0.05244	-0.324000	0.08589	0.477000	0.44152	CAG	.	.		0.428	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
CXorf58	254158	hgsc.bcm.edu	37	X	23953337	23953337	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:23953337C>A	ENST00000379211.3	+	7	1129	c.580C>A	c.(580-582)Cct>Act	p.P194T		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	194										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CGATGAGGCCCCTGCATTTTC	0.428																																					p.P194T		.	.											.	CXorf58	.	.	0			c.C580A						.						106.0	111.0	109.0					X																	23953337		2203	4300	6503	SO:0001583	missense	254158	exon7			GAGGCCCCTGCAT	AK058173	CCDS14209.1	Xp22.11	2012-11-28			ENSG00000165182	ENSG00000165182			26356	protein-coding gene	gene with protein product							Standard	NM_152761		Approved	FLJ25444	uc004daz.1	Q96LI9	OTTHUMG00000021258	ENST00000379211.3:c.580C>A	X.37:g.23953337C>A	ENSP00000368511:p.Pro194Thr	37.0	0.0		26.0	8.0	NM_152761		Missense_Mutation	SNP	ENST00000379211.3	37	CCDS14209.1	.	.	.	.	.	.	.	.	.	.	c	14.66	2.603234	0.46423	.	.	ENSG00000165182	ENST00000379211	T	0.28255	1.62	5.91	5.05	0.67936	.	0.083612	0.50627	D	0.000117	T	0.53786	0.1818	M	0.72894	2.215	0.40526	D	0.980881	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.986	T	0.58651	-0.7599	10	0.66056	D	0.02	-19.7543	13.0656	0.59032	0.0:0.9199:0.0:0.0801	.	194;194	B7ZLS7;Q96LI9	.;CX058_HUMAN	T	194	ENSP00000368511:P194T	ENSP00000368511:P194T	P	+	1	0	CXorf58	23863258	0.996000	0.38824	0.835000	0.33067	0.025000	0.11179	4.603000	0.61105	1.254000	0.44035	0.417000	0.27973	CCT	.	.		0.428	CXorf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056071.1	NM_152761	
PCDHA5	56143	hgsc.bcm.edu	37	5	140203594	140203594	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:140203594G>T	ENST00000529859.1	+	1	2234	c.2234G>T	c.(2233-2235)gGg>gTg	p.G745V	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.G745V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.G745V	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	745					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGCGGTGGGGAGCTGGTCG	0.652																																					p.G745V		.	.											.	PCDHA5	.	.	0			c.G2234T						.						66.0	61.0	63.0					5																	140203594		2203	4300	6503	SO:0001583	missense	56143	exon1			CGGTGGGGAGCTG	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.2234G>T	5.37:g.140203594G>T	ENSP00000436557:p.Gly745Val	88.0	0.0		129.0	16.0	NM_018908	O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	16.75	3.208401	0.58343	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.26518	1.73;1.73;1.73	3.92	3.05	0.35203	.	.	.	.	.	T	0.58308	0.2113	M	0.93375	3.41	0.47094	D	0.999312	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.78314	0.98;0.991;0.982	T	0.67650	-0.5616	9	0.87932	D	0	.	11.7041	0.51587	0.0887:0.0:0.9113:0.0	.	745;745;745	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	V	745	ENSP00000433416:G745V;ENSP00000436557:G745V;ENSP00000367366:G745V	ENSP00000367366:G745V	G	+	2	0	PCDHA5	140183778	0.999000	0.42202	1.000000	0.80357	0.744000	0.42396	2.866000	0.48420	0.761000	0.33130	0.491000	0.48974	GGG	.	.		0.652	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908	
ZNF536	9745	hgsc.bcm.edu	37	19	31038889	31038889	+	Missense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:31038889G>A	ENST00000355537.3	+	4	2510	c.2363G>A	c.(2362-2364)gGc>gAc	p.G788D		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	788					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)					GACTATGCCGGCACGCAGTCA	0.507																																					p.G788D		.	.											.	ZNF536	.	.	0			c.G2363A						.						65.0	69.0	68.0					19																	31038889		2203	4300	6503	SO:0001583	missense	9745	exon4			ATGCCGGCACGCA		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.2363G>A	19.37:g.31038889G>A	ENSP00000347730:p.Gly788Asp	85.0	0.0		79.0	14.0	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072364	0.76415	.	.	ENSG00000198597	ENST00000355537	T	0.18338	2.22	6.08	6.08	0.98989	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.00998	-1.1486	10	0.51188	T	0.08	-33.1648	20.6721	0.99693	0.0:0.0:1.0:0.0	.	788;788	A7E228;O15090	.;ZN536_HUMAN	D	788	ENSP00000347730:G788D	ENSP00000347730:G788D	G	+	2	0	ZNF536	35730729	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.467000	0.97671	2.894000	0.99253	0.591000	0.81541	GGC	.	.		0.507	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
PPP5C	5536	hgsc.bcm.edu	37	19	46850460	46850460	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:46850460A>G	ENST00000012443.4	+	1	210	c.107A>G	c.(106-108)aAt>aGt	p.N36S	PPP5C_ENST00000391919.1_5'UTR	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit	36					cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		ACTCAGGCCAATGACTACTTC	0.677											OREG0025570	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.N36S		.	.											.	PPP5C	.	.	0			c.A107G						.						25.0	22.0	23.0					19																	46850460		2197	4297	6494	SO:0001583	missense	5536	exon1			AGGCCAATGACTA		CCDS12684.1	19q13.3	2013-01-10			ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	protein-coding gene	gene with protein product		600658		PPP5		8666404	Standard	NM_006247		Approved	PP5	uc002pem.3	P53041	OTTHUMG00000134287	ENST00000012443.4:c.107A>G	19.37:g.46850460A>G	ENSP00000012443:p.Asn36Ser	37.0	0.0	942	53.0	9.0	NM_006247	Q16722|Q53XV2	Missense_Mutation	SNP	ENST00000012443.4	37	CCDS12684.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.044402	0.75732	.	.	ENSG00000011485	ENST00000012443;ENST00000451918	T	0.65178	-0.14	3.43	3.43	0.39272	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	U	0.000002	D	0.82921	0.5142	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.994	D	0.86187	0.1610	10	0.87932	D	0	-21.7574	10.1632	0.42864	1.0:0.0:0.0:0.0	.	36;36	B2R6R6;P53041	.;PPP5_HUMAN	S	36	ENSP00000012443:N36S	ENSP00000012443:N36S	N	+	2	0	PPP5C	51542300	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.523000	0.67099	1.552000	0.49463	0.379000	0.24179	AAT	.	.		0.677	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	NM_006247	
PRSS16	10279	hgsc.bcm.edu	37	6	27220730	27220730	+	Splice_Site	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:27220730T>C	ENST00000230582.3	+	9	1165		c.e9+2		PRSS16_ENST00000421826.2_Splice_Site|PRSS16_ENST00000377456.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)						protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCGGCTTCTGTAAGTGACTGG	0.512																																					.	NSCLC(178;1118 2105 17078 23587 44429)	.	.											.	PRSS16	.	.	0			c.1150+2T>C						.						199.0	170.0	180.0					6																	27220730		2203	4300	6503	SO:0001630	splice_region_variant	10279	exon9			CTTCTGTAAGTGA	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.1150+2T>C	6.37:g.27220730T>C		133.0	0.0		166.0	12.0	NM_005865	O75416	Splice_Site	SNP	ENST00000230582.3	37	CCDS4623.1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.146248	0.57044	.	.	ENSG00000112812	ENST00000421826;ENST00000230582;ENST00000343467;ENST00000485993;ENST00000475106	.	.	.	4.26	4.26	0.50523	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6381	0.51215	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRSS16	27328709	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.912000	0.56386	1.927000	0.55829	0.460000	0.39030	.	.	.		0.512	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		Intron
DOK3	79930	hgsc.bcm.edu	37	5	176931755	176931755	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:176931755C>T	ENST00000357198.4	-	5	806	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	DOK3_ENST00000312943.6_Missense_Mutation_p.G212S|RP11-1334A24.6_ENST00000506025.1_RNA|DOK3_ENST00000501403.2_Missense_Mutation_p.G212S|DOK3_ENST00000377112.4_Missense_Mutation_p.G110S	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	268	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TTGTCGGAGCCGAACTTGCGC	0.682																																					p.G268S		.	.											.	DOK3	.	.	0			c.G802A						.						50.0	56.0	54.0					5																	176931755		2202	4299	6501	SO:0001583	missense	79930	exon5			CGGAGCCGAACTT	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.802G>A	5.37:g.176931755C>T	ENSP00000349727:p.Gly268Ser	101.0	0.0		135.0	28.0	NM_024872	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644690	0.87859	.	.	ENSG00000146094	ENST00000312943;ENST00000377112;ENST00000357198;ENST00000501403;ENST00000510380	D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28	4.83	4.83	0.62350	Pleckstrin homology-type (1);Insulin receptor substrate-1, PTB (3);	0.000000	0.64402	D	0.000014	D	0.97170	0.9075	M	0.90542	3.125	0.52099	D	0.999947	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.98104	1.0416	10	0.87932	D	0	-8.5005	15.681	0.77367	0.0:1.0:0.0:0.0	.	268;110;212;98	Q7L591;E9PAT0;Q7L591-3;Q7L591-2	DOK3_HUMAN;.;.;.	S	212;110;268;212;212	ENSP00000325174:G212S;ENSP00000366316:G110S;ENSP00000349727:G268S;ENSP00000421688:G212S;ENSP00000422395:G212S	ENSP00000325174:G212S	G	-	1	0	DOK3	176864361	1.000000	0.71417	1.000000	0.80357	0.634000	0.38068	6.198000	0.72106	2.216000	0.71823	0.491000	0.48974	GGC	.	.		0.682	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872	
SPHKAP	80309	hgsc.bcm.edu	37	2	228882436	228882436	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr2:228882436T>G	ENST00000392056.3	-	7	3180	c.3134A>C	c.(3133-3135)aAg>aCg	p.K1045T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.K1045T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1045						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GTTCATGATCTTGGCTGCCAC	0.517																																					p.K1045T		.	.											.	SPHKAP	.	.	0			c.A3134C						.						84.0	79.0	81.0					2																	228882436		2203	4300	6503	SO:0001583	missense	80309	exon7			ATGATCTTGGCTG		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3134A>C	2.37:g.228882436T>G	ENSP00000375909:p.Lys1045Thr	84.0	0.0		98.0	24.0	NM_030623	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	ENST00000392056.3	37	CCDS46537.1	.	.	.	.	.	.	.	.	.	.	T	18.17	3.565446	0.65651	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.18960	2.18;2.19	6.08	4.93	0.64822	.	0.086238	0.85682	D	0.000000	T	0.33000	0.0848	L	0.29908	0.895	0.49582	D	0.999805	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.83275	0.962;0.928;0.996	T	0.06954	-1.0798	10	0.72032	D	0.01	.	11.239	0.48958	0.0:0.0706:0.0:0.9294	.	76;1045;1045	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	T	1045	ENSP00000375909:K1045T;ENSP00000339886:K1045T	ENSP00000339886:K1045T	K	-	2	0	SPHKAP	228590680	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.291000	0.59025	1.134000	0.42165	0.533000	0.62120	AAG	.	.		0.517	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623	
ZNF430	80264	hgsc.bcm.edu	37	19	21240807	21240807	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:21240807A>G	ENST00000261560.5	+	5	1874	c.1693A>G	c.(1693-1695)Aga>Gga	p.R565G	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	565					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TTCATACTGGAGAGAAACCCT	0.388																																					p.R565G		.	.											.	ZNF430	.	.	0			c.A1693G						.						29.0	32.0	31.0					19																	21240807		2157	4271	6428	SO:0001583	missense	80264	exon5			TACTGGAGAGAAA	AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1693A>G	19.37:g.21240807A>G	ENSP00000261560:p.Arg565Gly	25.0	0.0		19.0	11.0	NM_025189	Q86V70	Missense_Mutation	SNP	ENST00000261560.5	37	CCDS32978.1	.	.	.	.	.	.	.	.	.	.	.	8.708	0.911376	0.17833	.	.	ENSG00000118620	ENST00000261560	T	0.05580	3.42	0.381	0.381	0.16228	.	.	.	.	.	T	0.01320	0.0043	N	0.00500	-1.43	0.27793	N	0.942753	B;B	0.17038	0.02;0.0	B;B	0.04013	0.001;0.0	T	0.46665	-0.9175	9	0.02654	T	1	.	4.4892	0.11805	0.6706:0.3294:0.0:0.0	.	564;565	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	G	565	ENSP00000261560:R565G	ENSP00000261560:R565G	R	+	1	2	ZNF430	21032647	0.109000	0.22037	0.594000	0.28785	0.566000	0.35808	-1.489000	0.02306	0.378000	0.24764	0.369000	0.22263	AGA	.	.		0.388	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463539.1	NM_025189	
LEPR	3953	hgsc.bcm.edu	37	1	66102511	66102511	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr1:66102511T>A	ENST00000349533.6	+	20	3496	c.3311T>A	c.(3310-3312)tTc>tAc	p.F1104Y	LEPR_ENST00000406510.3_Missense_Mutation_p.F171Y	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TCGTGCCCATTCCCAGCCCCC	0.398																																					p.F1104Y		.	.											.	LEPR	.	.	0			c.T3311A						.						71.0	69.0	70.0					1																	66102511		2203	4300	6503	SO:0001583	missense	3953	exon20			GCCCATTCCCAGC	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3311T>A	1.37:g.66102511T>A	ENSP00000330393:p.Phe1104Tyr	157.0	0.0		135.0	7.0	NM_002303	Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	CCDS631.1	.	.	.	.	.	.	.	.	.	.	T	14.26	2.480913	0.44044	.	.	ENSG00000116678	ENST00000349533;ENST00000406510	T	0.59224	0.28	5.64	3.14	0.36123	.	0.557233	0.20745	N	0.086474	T	0.58075	0.2097	M	0.69823	2.125	0.30912	N	0.728979	D	0.76494	0.999	D	0.64687	0.928	T	0.55952	-0.8059	10	0.52906	T	0.07	-10.0424	8.5838	0.33646	0.1289:0.0:0.135:0.7361	.	1104	P48357	LEPR_HUMAN	Y	1104;171	ENSP00000330393:F1104Y	ENSP00000330393:F1104Y	F	+	2	0	LEPR	65875099	0.841000	0.29509	0.805000	0.32314	0.025000	0.11179	3.803000	0.55560	0.936000	0.37367	0.477000	0.44152	TTC	.	.		0.398	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303	
ITIH4	3700	hgsc.bcm.edu	37	3	52863215	52863215	+	Silent	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:52863215C>T	ENST00000266041.4	-	2	267	c.171G>A	c.(169-171)gtG>gtA	p.V57V	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Silent_p.V57V|ITIH4_ENST00000485816.1_Silent_p.V57V|ITIH4_ENST00000346281.5_Silent_p.V57V|ITIH4_ENST00000434759.3_Intron|RP5-966M1.6_ENST00000513520.1_5'Flank	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	57	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CCCTATTGACCACTCGGCTGG	0.562																																					p.V57V		.	.											.	ITIH4	.	.	0			c.G171A						.						163.0	135.0	145.0					3																	52863215		2203	4300	6503	SO:0001819	synonymous_variant	3700	exon2			ATTGACCACTCGG	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.171G>A	3.37:g.52863215C>T		105.0	0.0		127.0	37.0	NM_001166449	B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Silent	SNP	ENST00000266041.4	37	CCDS2865.1																																																																																			.	.		0.562	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218	
FHAD1	114827	hgsc.bcm.edu	37	1	15675645	15675645	+	Splice_Site	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr1:15675645G>C	ENST00000375998.4	+	17	2388	c.2388G>C	c.(2386-2388)gaG>gaC	p.E796D	FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000375999.3_Splice_Site_p.E796D|FHAD1_ENST00000358897.4_Splice_Site_p.E796D|FHAD1_ENST00000314740.8_Intron|FHAD1_ENST00000417793.1_Intron			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	796										skin(1)|stomach(1)	2						AACAGAAGGAGGTATGAGCAG	0.478																																					p.E796D		.	.											.	FHAD1	.	.	0			c.G2388C						.						100.0	97.0	98.0					1																	15675645		692	1591	2283	SO:0001630	splice_region_variant	114827	exon18			GAAGGAGGTATGA	AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.2388+1G>C	1.37:g.15675645G>C		65.0	0.0		56.0	14.0	NM_052929	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	ENST00000375998.4	37		.	.	.	.	.	.	.	.	.	.	g	15.87	2.959350	0.53400	.	.	ENSG00000142621	ENST00000358897;ENST00000375999;ENST00000375998	T;T;T	0.50001	0.76;0.76;0.76	4.51	4.51	0.55191	.	.	.	.	.	T	0.44787	0.1310	M	0.72353	2.195	0.80722	D	1	P	0.34522	0.455	B	0.28553	0.091	T	0.47674	-0.9099	9	0.40728	T	0.16	-18.1096	12.9178	0.58214	0.0:0.0:1.0:0.0	.	796	B1AJZ9	FHAD1_HUMAN	D	796	ENSP00000351770:E796D;ENSP00000365167:E796D;ENSP00000365166:E796D	ENSP00000351770:E796D	E	+	3	2	FHAD1	15548232	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.216000	0.58540	2.495000	0.84180	0.558000	0.71614	GAG	.	.		0.478	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000393400.2	NM_052929	Missense_Mutation
TBC1D32	221322	hgsc.bcm.edu	37	6	121625734	121625734	+	Silent	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:121625734A>G	ENST00000398212.2	-	7	856	c.807T>C	c.(805-807)aaT>aaC	p.N269N	TBC1D32_ENST00000275159.6_Silent_p.N269N	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	269					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										TAGGAATATGATTTTCCCTAG	0.284																																					p.N269N		.	.											.	C6orf170	.	.	0			c.T807C						.						62.0	60.0	61.0					6																	121625734		1812	4067	5879	SO:0001819	synonymous_variant	221322	exon7			AATATGATTTTCC	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.807T>C	6.37:g.121625734A>G		76.0	0.0		60.0	10.0	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Silent	SNP	ENST00000398212.2	37	CCDS43501.1																																																																																			.	.		0.284	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
HAGHL	84264	hgsc.bcm.edu	37	16	777559	777559	+	Missense_Mutation	SNP	T	T	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr16:777559T>G	ENST00000341413.4	+	2	331	c.50T>G	c.(49-51)gTc>gGc	p.V17G	HAGHL_ENST00000561546.1_Missense_Mutation_p.V17G|CCDC78_ENST00000293889.6_5'Flank|HAGHL_ENST00000549114.1_Missense_Mutation_p.V17G|HAGHL_ENST00000564545.1_Missense_Mutation_p.V17G|HAGHL_ENST00000389703.3_Missense_Mutation_p.V17G|NARFL_ENST00000562862.1_5'Flank|HAGHL_ENST00000564537.1_Missense_Mutation_p.V17G			Q6PII5	HAGHL_HUMAN	hydroxyacylglutathione hydrolase-like	17							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			lung(3)	3		Hepatocellular(780;0.00335)				ATGTACCTGGTCATCGAGGAG	0.692																																					p.V17G	Pancreas(46;538 1326 12403 32360)	.	.											.	HAGHL	.	.	0			c.T50G						.						68.0	51.0	57.0					16																	777559		2189	4295	6484	SO:0001583	missense	84264	exon1			ACCTGGTCATCGA	AK054841	CCDS32354.1	16p13.3	2008-02-05	2003-11-04						14177	protein-coding gene	gene with protein product			"""hydroxyacyl glutathione hydrolase-like"""			12477932	Standard	XM_005255629		Approved	MGC2605	uc002cjo.1	Q6PII5		ENST00000341413.4:c.50T>G	16.37:g.777559T>G	ENSP00000341952:p.Val17Gly	95.0	0.0		130.0	27.0	NM_032304	A6NCC4|D3DU64|Q59FX8|Q96BZ3|Q96NR5|Q96S11|Q9BT45	Missense_Mutation	SNP	ENST00000341413.4	37		.	.	.	.	.	.	.	.	.	.	T	23.8	4.460644	0.84317	.	.	ENSG00000103253	ENST00000549114;ENST00000341413;ENST00000389701;ENST00000389703	D;D;D	0.85339	-1.97;-1.97;-1.97	3.43	3.43	0.39272	Beta-lactamase-like (2);	0.185073	0.33834	N	0.004506	D	0.92625	0.7657	M	0.90650	3.135	0.58432	D	0.999998	D;D;D;D	0.89917	0.996;0.998;0.999;1.0	D;D;D;D	0.91635	0.995;0.995;0.996;0.999	D	0.93250	0.6634	10	0.87932	D	0	-14.7484	10.8824	0.46946	0.0:0.0:0.0:1.0	.	17;17;17;17	B4DED4;Q6PII5-2;Q6PII5-3;Q6PII5	.;.;.;HAGHL_HUMAN	G	17	ENSP00000447170:V17G;ENSP00000341952:V17G;ENSP00000374353:V17G	ENSP00000341952:V17G	V	+	2	0	HAGHL	717560	1.000000	0.71417	0.565000	0.28409	0.790000	0.44656	4.243000	0.58721	1.431000	0.47355	0.459000	0.35465	GTC	.	.		0.692	HAGHL-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409607.1	NM_032304	
COL6A3	1293	hgsc.bcm.edu	37	2	238245049	238245049	+	Silent	SNP	A	A	G	rs537384335		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr2:238245049A>G	ENST00000295550.4	-	40	9146	c.8694T>C	c.(8692-8694)acT>acC	p.T2898T	COL6A3_ENST00000472056.1_Silent_p.T2291T|COL6A3_ENST00000353578.4_Silent_p.T2692T|COL6A3_ENST00000346358.4_Silent_p.T2698T|COL6A3_ENST00000347401.3_Silent_p.T2697T|COL6A3_ENST00000409809.1_Silent_p.T2692T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2898	Nonhelical region.|Thr-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTATAATAGTCACAGGCT	0.552													A|||	1	0.000199681	0.0	0.0	5008	,	,		16037	0.001		0.0	False		,,,				2504	0.0				p.T2898T		.	.											.	COL6A3	.	.	0			c.T8694C						.						146.0	150.0	149.0					2																	238245049		2203	4300	6503	SO:0001819	synonymous_variant	1293	exon40			TATAATAGTCACA	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8694T>C	2.37:g.238245049A>G		86.0	0.0		123.0	23.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	CCDS33412.1																																																																																			.	.		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
CHIC1	53344	hgsc.bcm.edu	37	X	72783227	72783227	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:72783227C>A	ENST00000373502.5	+	1	184	c.107C>A	c.(106-108)tCg>tAg	p.S36*	CHIC1_ENST00000373504.6_Nonsense_Mutation_p.S36*|MAP2K4P1_ENST00000602584.1_RNA	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1	36	Ser-rich.					cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					tcgtcgtcgtcgtcgGTATCT	0.607																																					p.S36X		.	.											.	CHIC1	.	.	0			c.C107A						.						21.0	12.0	15.0					X																	72783227		2115	4120	6235	SO:0001587	stop_gained	53344	exon1			CGTCGTCGTCGGT	Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.107C>A	X.37:g.72783227C>A	ENSP00000362601:p.Ser36*	107.0	0.0		136.0	9.0	NM_001039840	A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	Nonsense_Mutation	SNP	ENST00000373502.5	37	CCDS35335.2	.	.	.	.	.	.	.	.	.	.	C	37	6.154708	0.97329	.	.	ENSG00000204116	ENST00000373502;ENST00000373504	.	.	.	3.76	3.76	0.43208	.	0.000000	0.33980	N	0.004379	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.6976	10.2822	0.43545	0.0:1.0:0.0:0.0	.	.	.	.	X	36	.	ENSP00000362601:S36X	S	+	2	0	CHIC1	72699952	1.000000	0.71417	0.978000	0.43139	0.845000	0.48019	3.058000	0.49939	1.886000	0.54624	0.422000	0.28245	TCG	.	.		0.607	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057233.3		
SSR3	6747	hgsc.bcm.edu	37	3	156266720	156266720	+	Missense_Mutation	SNP	C	C	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:156266720C>A	ENST00000265044.2	-	3	427	c.333G>T	c.(331-333)aaG>aaT	p.K111N	SSR3_ENST00000467789.1_Missense_Mutation_p.K111N|SSR3_ENST00000463503.1_Missense_Mutation_p.K59N|SSR3_ENST00000496050.1_Missense_Mutation_p.K59N|SSR3_ENST00000478842.1_5'UTR|SSR3_ENST00000476217.1_Missense_Mutation_p.K111N	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	111					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	integral component of endoplasmic reticulum membrane (GO:0030176)|Sec61 translocon complex (GO:0005784)				endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TCCGAGACATCTTTCTATTAT	0.358																																					p.K111N		.	.											.	SSR3	.	.	0			c.G333T						.						91.0	90.0	90.0					3																	156266720		2203	4300	6503	SO:0001583	missense	6747	exon3			AGACATCTTTCTA	BC017203	CCDS3176.1	3q25.31	2004-02-27			ENSG00000114850	ENSG00000114850			11325	protein-coding gene	gene with protein product		606213					Standard	NM_007107		Approved	TRAPG	uc003fau.3	Q9UNL2	OTTHUMG00000158632	ENST00000265044.2:c.333G>T	3.37:g.156266720C>A	ENSP00000265044:p.Lys111Asn	60.0	0.0		71.0	19.0	NM_007107	B2R7D0|B4E2P2|D3DNK5|Q549M4	Missense_Mutation	SNP	ENST00000265044.2	37	CCDS3176.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712930	0.89112	.	.	ENSG00000114850	ENST00000265044;ENST00000467789;ENST00000476217;ENST00000463503;ENST00000496050	.	.	.	5.41	5.41	0.78517	.	0.046835	0.85682	D	0.000000	D	0.85923	0.5810	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	0.992;1.0	D;D	0.91635	0.954;0.999	D	0.88349	0.2980	9	0.87932	D	0	-20.4262	19.5475	0.95305	0.0:1.0:0.0:0.0	.	111;111	B4E2P2;Q9UNL2	.;SSRG_HUMAN	N	111;111;111;59;59	.	ENSP00000265044:K111N	K	-	3	2	SSR3	157749414	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.174000	0.50847	2.680000	0.91292	0.650000	0.86243	AAG	.	.		0.358	SSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351521.1	NM_007107	
PCDH15	65217	hgsc.bcm.edu	37	10	56129002	56129002	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr10:56129002C>G	ENST00000320301.6	-	5	746	c.352G>C	c.(352-354)Gtc>Ctc	p.V118L	PCDH15_ENST00000395430.1_Missense_Mutation_p.V118L|PCDH15_ENST00000395433.1_Missense_Mutation_p.V96L|PCDH15_ENST00000395440.1_Missense_Mutation_p.V118L|PCDH15_ENST00000437009.1_Missense_Mutation_p.V118L|PCDH15_ENST00000373957.3_Missense_Mutation_p.V96L|PCDH15_ENST00000395432.2_Missense_Mutation_p.V118L|PCDH15_ENST00000414778.1_Missense_Mutation_p.V123L|PCDH15_ENST00000395445.1_Missense_Mutation_p.V118L|PCDH15_ENST00000395442.1_Missense_Mutation_p.V118L|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000373955.1_Missense_Mutation_p.V118L|PCDH15_ENST00000395438.1_Missense_Mutation_p.V118L|PCDH15_ENST00000395446.1_Missense_Mutation_p.V118L|PCDH15_ENST00000373965.2_Missense_Mutation_p.V118L|PCDH15_ENST00000361849.3_Missense_Mutation_p.V118L	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	118	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATGCACTGGACCTGCACCACA	0.403										HNSCC(58;0.16)																											p.V123L		.	.											.	PCDH15	.	.	0			c.G367C						.						129.0	103.0	112.0					10																	56129002		2203	4300	6503	SO:0001583	missense	65217	exon6			ACTGGACCTGCAC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.352G>C	10.37:g.56129002C>G	ENSP00000322604:p.Val118Leu	89.0	0.0		76.0	22.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052838	0.55218	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000395445;ENST00000395446;ENST00000395442;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.54;0.64;0.58;0.51;0.43;0.66;0.56;0.41;0.42;0.49;0.36;0.42;0.42;0.53;0.63	5.52	5.52	0.82312	Cadherin (1);	.	.	.	.	T	0.63307	0.2500	L	0.29908	0.895	0.42086	D	0.991277	D;P;P;P;P;P;D;P;P;B;P;P;D;P;P	0.63046	0.992;0.876;0.719;0.719;0.947;0.876;0.992;0.908;0.719;0.376;0.908;0.949;0.97;0.949;0.719	D;P;B;B;P;P;D;P;B;B;B;P;P;P;B	0.77004	0.989;0.464;0.349;0.349;0.78;0.464;0.989;0.53;0.349;0.264;0.411;0.53;0.779;0.53;0.349	T	0.61936	-0.6960	9	0.39692	T	0.17	.	19.0325	0.92963	0.0:1.0:0.0:0.0	.	96;118;118;123;118;118;118;118;118;118;118;123;118;96;118	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	L	118;123;118;118;118;118;118;118;118;118;96;96;118;118;123;118;118	ENSP00000363076:V118L;ENSP00000410304:V123L;ENSP00000378826:V118L;ENSP00000378832:V118L;ENSP00000378833:V118L;ENSP00000378829:V118L;ENSP00000378827:V118L;ENSP00000378820:V118L;ENSP00000354950:V118L;ENSP00000378821:V96L;ENSP00000363068:V96L;ENSP00000322604:V118L;ENSP00000378818:V118L;ENSP00000412628:V118L;ENSP00000363066:V118L	ENSP00000322604:V118L	V	-	1	0	PCDH15	55799008	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	4.918000	0.63376	2.590000	0.87494	0.585000	0.79938	GTC	.	.		0.403	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
LBP	3929	hgsc.bcm.edu	37	20	36983752	36983752	+	Silent	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr20:36983752G>A	ENST00000217407.2	+	5	692	c.531G>A	c.(529-531)ctG>ctA	p.L177L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	177					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CCAGGTGGCTGTTGAACCTCT	0.597																																					p.L177L		.	.											.	LBP	.	.	0			c.G531A						.						105.0	84.0	91.0					20																	36983752		2203	4299	6502	SO:0001819	synonymous_variant	3929	exon5			GTGGCTGTTGAAC		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.531G>A	20.37:g.36983752G>A		92.0	0.0		102.0	39.0	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Silent	SNP	ENST00000217407.2	37	CCDS13304.1																																																																																			.	.		0.597	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	
CLASP1	23332	hgsc.bcm.edu	37	2	122216520	122216520	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr2:122216520C>T	ENST00000263710.4	-	13	1599	c.1210G>A	c.(1210-1212)Gac>Aac	p.D404N	CLASP1_ENST00000541859.1_Missense_Mutation_p.D173N|CLASP1_ENST00000409078.3_Missense_Mutation_p.D404N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D404N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D404N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D172N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D404N|CLASP1_ENST00000430234.1_5'UTR	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	404					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GCTCCATGGTCAAACTTATTC	0.358																																					p.D404N		.	.											.	CLASP1	.	.	0			c.G1210A						.						145.0	140.0	141.0					2																	122216520		1846	4096	5942	SO:0001583	missense	23332	exon13			CATGGTCAAACTT	AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.1210G>A	2.37:g.122216520C>T	ENSP00000263710:p.Asp404Asn	61.0	0.0		103.0	22.0	NM_001207051	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	ENST00000263710.4	37		.	.	.	.	.	.	.	.	.	.	C	35	5.554197	0.96501	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.45	5.45	0.79879	Armadillo-type fold (1);CLASP N-terminal domain (1);	0.086182	0.85682	D	0.000000	T	0.59500	0.2198	L	0.46670	1.46	0.80722	D	1	D;D;D;B	0.57571	0.975;0.969;0.98;0.306	P;P;P;P	0.57244	0.762;0.649;0.816;0.521	T	0.56214	-0.8016	10	0.44086	T	0.13	.	19.6233	0.95669	0.0:1.0:0.0:0.0	.	404;404;404;404	E7EUA5;F5GWS0;B7ZLX3;Q7Z460	.;.;.;CLAP1_HUMAN	N	404;404;404;404;173;404;172	ENSP00000263710:D404N;ENSP00000389372:D404N;ENSP00000380717:D404N;ENSP00000441625:D404N;ENSP00000441770:D173N;ENSP00000386442:D404N;ENSP00000438620:D172N	ENSP00000263710:D404N	D	-	1	0	CLASP1	121932990	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.782000	0.85680	2.714000	0.92807	0.655000	0.94253	GAC	.	.		0.358	CLASP1-201	KNOWN	basic	protein_coding	protein_coding		NM_015282	
XPOT	11260	hgsc.bcm.edu	37	12	64833062	64833062	+	Silent	SNP	G	G	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr12:64833062G>T	ENST00000332707.5	+	23	3301	c.2772G>T	c.(2770-2772)ctG>ctT	p.L924L		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	924	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AAGAATACCTGCCCTCCTTGC	0.378																																					p.L924L		.	.											.	XPOT	.	.	0			c.G2772T						.						104.0	91.0	96.0					12																	64833062		2203	4300	6503	SO:0001819	synonymous_variant	11260	exon23			ATACCTGCCCTCC	AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.2772G>T	12.37:g.64833062G>T		71.0	0.0		95.0	4.0	NM_007235	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	ENST00000332707.5	37	CCDS31852.1																																																																																			.	.		0.378	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401122.1	NM_007235	
DNAH5	1767	hgsc.bcm.edu	37	5	13820597	13820597	+	Silent	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:13820597A>G	ENST00000265104.4	-	41	6803	c.6699T>C	c.(6697-6699)gcT>gcC	p.A2233A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2233	AAA 2. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGATTAAACCAGCTTCTTCAA	0.502									Kartagener syndrome																												p.A2233A		.	.											.	DNAH5	.	.	0			c.T6699C						.						86.0	80.0	82.0					5																	13820597		2203	4300	6503	SO:0001819	synonymous_variant	1767	exon41	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	TAAACCAGCTTCT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.6699T>C	5.37:g.13820597A>G		76.0	0.0		116.0	26.0	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																			.	.		0.502	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
ZNF141	7700	hgsc.bcm.edu	37	4	366775	366775	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr4:366775T>A	ENST00000240499.7	+	4	698	c.549T>A	c.(547-549)ttT>ttA	p.F183L	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Missense_Mutation_p.F183L	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	183					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						TTCAGAAGTTTTCACACCTAA	0.333																																					p.F183L		.	.											.	ZNF141	.	.	0			c.T549A						.						70.0	74.0	73.0					4																	366775		2203	4300	6503	SO:0001583	missense	7700	exon4			GAAGTTTTCACAC	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.549T>A	4.37:g.366775T>A	ENSP00000240499:p.Phe183Leu	64.0	0.0		85.0	20.0	NM_003441	Q6DK07	Missense_Mutation	SNP	ENST00000240499.7	37	CCDS33931.1	.	.	.	.	.	.	.	.	.	.	T	0.635	-0.815479	0.02776	.	.	ENSG00000131127	ENST00000512994;ENST00000240499	T;T	0.26660	7.3;1.72	1.23	-2.46	0.06461	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08935	0.0221	N	0.10760	0.04	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.33701	-0.9858	9	0.10902	T	0.67	.	3.277	0.06902	0.2426:0.5471:0.0:0.2104	.	183;183	D6RIY0;Q15928	.;ZN141_HUMAN	L	183	ENSP00000425799:F183L;ENSP00000240499:F183L	ENSP00000240499:F183L	F	+	3	2	ZNF141	356775	.	.	0.001000	0.08648	0.014000	0.08584	.	.	-1.419000	0.02012	-0.756000	0.03474	TTT	.	.		0.333	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441	
SPECC1	92521	hgsc.bcm.edu	37	17	20109082	20109082	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr17:20109082A>G	ENST00000261503.5	+	4	1771	c.1720A>G	c.(1720-1722)Acg>Gcg	p.T574A	SPECC1_ENST00000584527.1_5'Flank|SPECC1_ENST00000395527.4_Missense_Mutation_p.T574A|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395530.2_Missense_Mutation_p.T493A|SPECC1_ENST00000395525.3_Missense_Mutation_p.T493A|SPECC1_ENST00000395529.3_Missense_Mutation_p.T574A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395522.2_Missense_Mutation_p.T493A	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	574					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TGTGGAGCAGACGGCAGAGAG	0.458																																					p.T574A		.	.											.	SPECC1	.	.	0			c.A1720G						.						68.0	71.0	70.0					17																	20109082		2203	4300	6503	SO:0001583	missense	92521	exon4			GAGCAGACGGCAG	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1720A>G	17.37:g.20109082A>G	ENSP00000261503:p.Thr574Ala	63.0	0.0		66.0	21.0	NM_001033553	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	ENST00000261503.5	37	CCDS32590.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.970897	0.00457	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000395529;ENST00000395522;ENST00000395527;ENST00000395525	T;T;T;T	0.61040	0.14;3.11;3.12;3.12	5.59	0.284	0.15701	.	0.776014	0.13105	N	0.413497	T	0.29458	0.0734	N	0.17474	0.49	0.09310	N	0.999998	B;B;B;B;B	0.09022	0.0;0.002;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.25467	-1.0131	10	0.02654	T	1	-0.2262	4.116	0.10081	0.42:0.0:0.4083:0.1718	.	574;493;493;574;574	A8MV89;Q5M775-4;Q5M775-3;Q5M775-2;Q5M775	.;.;.;.;CYTSB_HUMAN	A	574;574;574;493;493;493	ENSP00000261503:T574A;ENSP00000378900:T574A;ENSP00000378893:T493A;ENSP00000378896:T493A	ENSP00000261503:T574A	T	+	1	0	SPECC1	20049674	0.039000	0.19947	0.000000	0.03702	0.001000	0.01503	2.753000	0.47524	0.394000	0.25230	0.533000	0.62120	ACG	.	.		0.458	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904	
NETO2	81831	hgsc.bcm.edu	37	16	47117548	47117548	+	Missense_Mutation	SNP	C	C	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr16:47117548C>G	ENST00000562435.1	-	9	1546	c.1162G>C	c.(1162-1164)Ggg>Cgg	p.G388R	NETO2_ENST00000303155.5_Missense_Mutation_p.G381R	NM_018092.4	NP_060562.3	Q8NC67	NETO2_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 2	388					regulation of kainate selective glutamate receptor activity (GO:2000312)	kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)				breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				TCTTGGAACCCGGTTTTATTA	0.403										HNSCC(25;0.065)																											p.G388R		.	.											.	NETO2	.	.	0			c.G1162C						.						82.0	87.0	86.0					16																	47117548		2203	4300	6503	SO:0001583	missense	81831	exon9			GGAACCCGGTTTT	AK001292	CCDS10727.1, CCDS58460.1	16q11.2	2008-08-04			ENSG00000171208	ENSG00000171208			14644	protein-coding gene	gene with protein product		607974				11943477	Standard	NM_018092		Approved	FLJ10430, NEOT2	uc002eer.2	Q8NC67	OTTHUMG00000133101	ENST00000562435.1:c.1162G>C	16.37:g.47117548C>G	ENSP00000455169:p.Gly388Arg	83.0	0.0		57.0	23.0	NM_018092	J3KNF1|Q7Z381|Q8ND51|Q96SP4|Q9NVY8	Missense_Mutation	SNP	ENST00000562435.1	37	CCDS10727.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294527	0.81025	.	.	ENSG00000171208	ENST00000303155	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	L	0.47716	1.5	0.80722	D	1	P;D;D	0.71674	0.864;0.986;0.998	P;P;D	0.69142	0.62;0.842;0.962	T	0.68606	-0.5364	9	0.30854	T	0.27	.	20.0124	0.97464	0.0:1.0:0.0:0.0	.	245;388;64	B7Z4I7;Q8NC67;Q8NC67-2	.;NETO2_HUMAN;.	R	388	.	ENSP00000306726:G388R	G	-	1	0	NETO2	45675049	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.804000	0.62554	2.749000	0.94314	0.655000	0.94253	GGG	.	.		0.403	NETO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256766.2	NM_018092	
PAX4	5078	hgsc.bcm.edu	37	7	127255087	127255087	+	Silent	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr7:127255087T>C	ENST00000341640.2	-	2	388	c.183A>G	c.(181-183)ccA>ccG	p.P61P	PAX4_ENST00000378740.2_Silent_p.P61P|PAX4_ENST00000463946.1_Silent_p.P59P|PAX4_ENST00000338516.3_Silent_p.P69P	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	69	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAATGCCCTTTGGCTCCAAGA	0.572																																					p.P61P	Ovarian(113;737 1605 7858 27720 34092)	.	.											.	PAX4	.	.	0			c.A183G						.						100.0	93.0	95.0					7																	127255087		2203	4300	6503	SO:0001819	synonymous_variant	5078	exon2			GCCCTTTGGCTCC		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.183A>G	7.37:g.127255087T>C		70.0	0.0		86.0	6.0	NM_006193	O95161|Q6B0H0	Silent	SNP	ENST00000341640.2	37	CCDS5797.1																																																																																			.	.		0.572	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1		
KCNK16	83795	hgsc.bcm.edu	37	6	39285579	39285579	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr6:39285579G>T	ENST00000373229.5	-	3	491	c.478C>A	c.(478-480)Cgt>Agt	p.R160S	KCNK16_ENST00000437525.2_Missense_Mutation_p.R160S|KCNK16_ENST00000425054.2_Missense_Mutation_p.R160S|KCNK16_ENST00000373227.4_Missense_Mutation_p.R160S|KCNK16_ENST00000507712.1_Missense_Mutation_p.R95S	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	160					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CGCCTGGGACGGTCCTCCCAT	0.592																																					p.R160S		.	.											.	KCNK16	.	.	0			c.C478A						.						34.0	33.0	33.0					6																	39285579		2203	4299	6502	SO:0001583	missense	83795	exon3			TGGGACGGTCCTC	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.478C>A	6.37:g.39285579G>T	ENSP00000362326:p.Arg160Ser	66.0	0.0		103.0	30.0	NM_001135106	B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	G	11.08	1.533589	0.27387	.	.	ENSG00000095981	ENST00000373229;ENST00000425054;ENST00000507712;ENST00000373227;ENST00000437525	T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96	5.35	3.54	0.40534	.	0.993224	0.08190	N	0.983964	T	0.09555	0.0235	N	0.10733	0.035	0.09310	N	1	B;B;B;B	0.18610	0.002;0.029;0.001;0.001	B;B;B;B	0.15484	0.001;0.013;0.003;0.001	T	0.35126	-0.9801	10	0.46703	T	0.11	.	8.1516	0.31143	0.0763:0.0:0.5902:0.3334	.	160;160;160;160	B5TJL9;Q96T55-5;Q96T55-4;Q96T55	.;.;.;KCNKG_HUMAN	S	160;160;95;160;160	ENSP00000362326:R160S;ENSP00000391498:R160S;ENSP00000423842:R95S;ENSP00000362324:R160S;ENSP00000415375:R160S	ENSP00000362324:R160S	R	-	1	0	KCNK16	39393557	0.935000	0.31712	0.997000	0.53966	0.856000	0.48823	1.792000	0.38754	0.617000	0.30160	0.561000	0.74099	CGT	.	.		0.592	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115	
ZNF175	7728	hgsc.bcm.edu	37	19	52090484	52090484	+	Silent	SNP	T	T	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:52090484T>A	ENST00000262259.2	+	5	1258	c.900T>A	c.(898-900)atT>atA	p.I300I	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	300					defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AACAGAGAATTCATAGTGTAG	0.423																																					p.I300I		.	.											.	ZNF175	.	.	0			c.T900A						.						97.0	100.0	99.0					19																	52090484		2203	4299	6502	SO:0001819	synonymous_variant	7728	exon5			GAGAATTCATAGT	D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.900T>A	19.37:g.52090484T>A		102.0	0.0		131.0	33.0	NM_007147	A8K9H2	Silent	SNP	ENST00000262259.2	37	CCDS12837.1																																																																																			.	.		0.423	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396205.1	NM_007147	
ARL5A	26225	hgsc.bcm.edu	37	2	152670806	152670806	+	Silent	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr2:152670806T>C	ENST00000295087.8	-	3	443	c.132A>G	c.(130-132)acA>acG	p.T44T	ARL5A_ENST00000428992.2_Silent_p.T7T	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	44					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		TTGTAGGAGATGTATGTACAA	0.338																																					p.T44T		.	.											.	ARL5A	.	.	0			c.A132G						.						97.0	101.0	100.0					2																	152670806		2203	4294	6497	SO:0001819	synonymous_variant	26225	exon3			AGGAGATGTATGT	AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.132A>G	2.37:g.152670806T>C		195.0	0.0		196.0	48.0	NM_012097	Q580I5	Silent	SNP	ENST00000295087.8	37	CCDS2195.1																																																																																			.	.		0.338	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254837.1		
ADRB2	154	hgsc.bcm.edu	37	5	148207094	148207094	+	Missense_Mutation	SNP	G	G	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr5:148207094G>C	ENST00000305988.4	+	1	939	c.700G>C	c.(700-702)Gac>Cac	p.D234H		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	234					activation of adenylate cyclase activity (GO:0007190)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|bone resorption (GO:0045453)|brown fat cell differentiation (GO:0050873)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|diet induced thermogenesis (GO:0002024)|endosome to lysosome transport (GO:0008333)|heat generation (GO:0031649)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of smooth muscle contraction (GO:0045986)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor-mediated endocytosis (GO:0006898)|regulation of sodium ion transport (GO:0002028)|regulation of vasodilation (GO:0042312)|response to cold (GO:0009409)|vasodilation by norepinephrine-epinephrine involved in regulation of systemic arterial blood pressure (GO:0002025)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	beta2-adrenergic receptor activity (GO:0004941)|norepinephrine binding (GO:0051380)|potassium channel regulator activity (GO:0015459)|protein homodimerization activity (GO:0042803)			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Acebutolol(DB01193)|Alprenolol(DB00866)|Amitriptyline(DB00321)|Amphetamine(DB00182)|Arbutamine(DB01102)|Arformoterol(DB01274)|Asenapine(DB06216)|Atenolol(DB00335)|Bambuterol(DB01408)|Betaxolol(DB00195)|Bethanidine(DB00217)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bopindolol(DB08807)|Bupranolol(DB08808)|Cabergoline(DB00248)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Dipivefrin(DB00449)|Dobutamine(DB00841)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Indacaterol(DB05039)|Isoetarine(DB00221)|Isoprenaline(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Mephentermine(DB01365)|Metipranolol(DB01214)|Metoprolol(DB00264)|Mirtazapine(DB00370)|Nadolol(DB01203)|Nebivolol(DB04861)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Phenoxybenzamine(DB00925)|Phenylpropanolamine(DB00397)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Sotalol(DB00489)|Terbutaline(DB00871)|Timolol(DB00373)|Trimipramine(DB00726)	CCAGAAGATTGACAAATCTGA	0.547																																					p.D234H		.	.											.	ADRB2	.	.	0			c.G700C						.						107.0	101.0	103.0					5																	148207094		2203	4300	6503	SO:0001583	missense	154	exon1			AAGATTGACAAAT	AF022953	CCDS4292.1	5q31-q32	2012-08-08	2012-05-09		ENSG00000169252	ENSG00000169252		"""GPCR / Class A : Adrenoceptors : beta"""	286	protein-coding gene	gene with protein product		109690	"""adrenergic, beta-2-, receptor, surface"""	ADRB2R			Standard	NM_000024		Approved	ADRBR, BAR, B2AR	uc003lpr.2	P07550	OTTHUMG00000129933	ENST00000305988.4:c.700G>C	5.37:g.148207094G>C	ENSP00000305372:p.Asp234His	80.0	0.0		106.0	40.0	NM_000024	B0LPE4|B2R7X2|O14823|O14824|O14825|O14826|Q4JG18|Q53GA6|Q6GMT4|Q6P4D8|Q8NEQ9|Q96EC3|Q9UCZ0|Q9UCZ1|Q9UCZ2|Q9UCZ3|Q9UH95|Q9UHA1|Q9UMZ5	Missense_Mutation	SNP	ENST00000305988.4	37	CCDS4292.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446533	0.63178	.	.	ENSG00000169252	ENST00000305988	T	0.36520	1.25	5.44	5.44	0.79542	GPCR, rhodopsin-like superfamily (1);	0.097714	0.64402	D	0.000002	T	0.52240	0.1722	L	0.39898	1.24	0.54753	D	0.999989	D	0.67145	0.996	D	0.65010	0.931	T	0.51694	-0.8673	10	0.87932	D	0	.	19.4568	0.94895	0.0:0.0:1.0:0.0	.	234	P07550	ADRB2_HUMAN	H	234	ENSP00000305372:D234H	ENSP00000305372:D234H	D	+	1	0	ADRB2	148187287	1.000000	0.71417	0.997000	0.53966	0.722000	0.41435	6.600000	0.74132	2.832000	0.97577	0.655000	0.94253	GAC	.	.		0.547	ADRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252189.1	NM_000024	
SCN5A	6331	hgsc.bcm.edu	37	3	38645342	38645342	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:38645342C>T	ENST00000333535.4	-	12	1900	c.1751G>A	c.(1750-1752)gGc>gAc	p.G584D	SCN5A_ENST00000425664.1_Missense_Mutation_p.G584D|SCN5A_ENST00000443581.1_Missense_Mutation_p.G584D|SCN5A_ENST00000414099.2_Missense_Mutation_p.G584D|SCN5A_ENST00000449557.2_Missense_Mutation_p.G584D|SCN5A_ENST00000450102.2_Missense_Mutation_p.G584D|SCN5A_ENST00000413689.1_Missense_Mutation_p.G584D|SCN5A_ENST00000423572.2_Missense_Mutation_p.G584D|SCN5A_ENST00000455624.2_Missense_Mutation_p.G584D|SCN5A_ENST00000451551.2_Missense_Mutation_p.G584D			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	584					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGGCGTGGCCAGGAGCCGA	0.667																																					p.G584D		.	.											.	SCN5A	.	.	0			c.G1751A						.						75.0	82.0	80.0					3																	38645342		2007	4170	6177	SO:0001583	missense	6331	exon12			GCGTGGCCAGGAG	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.1751G>A	3.37:g.38645342C>T	ENSP00000328968:p.Gly584Asp	48.0	0.0		64.0	13.0	NM_001160160	A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	CCDS46796.1	.	.	.	.	.	.	.	.	.	.	C	7.277	0.608360	0.14002	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.90844	-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74;-2.74	4.02	3.11	0.35812	Domain of unknown function DUF3451 (1);	0.678658	0.12881	N	0.431419	D	0.87116	0.6097	L	0.50333	1.59	0.29187	N	0.876133	B;B;B;B;B;B;B	0.25351	0.095;0.124;0.032;0.011;0.052;0.029;0.042	B;B;B;B;B;B;B	0.33121	0.099;0.158;0.022;0.038;0.112;0.049;0.084	T	0.78792	-0.2065	10	0.28530	T	0.3	.	7.8391	0.29387	0.0:0.7761:0.0:0.2239	.	584;584;584;584;584;584;584	E9PEF3;E9PHB6;Q14524-6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;.;SCN5A_HUMAN;.;.	D	584	ENSP00000398962:G584D;ENSP00000398266:G584D;ENSP00000410257:G584D;ENSP00000388797:G584D;ENSP00000397915:G584D;ENSP00000416634:G584D;ENSP00000328968:G584D;ENSP00000399524:G584D;ENSP00000403355:G584D;ENSP00000413996:G584D	ENSP00000328968:G584D	G	-	2	0	SCN5A	38620346	0.128000	0.22383	0.541000	0.28102	0.890000	0.51754	0.777000	0.26718	2.067000	0.61834	0.561000	0.74099	GGC	.	.		0.667	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056	
PFKFB1	5207	hgsc.bcm.edu	37	X	54989780	54989780	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:54989780C>T	ENST00000375006.3	-	2	203	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	PFKFB1_ENST00000545676.1_Intron|PFKFB1_ENST00000374992.2_Missense_Mutation_p.V45M	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	45	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						ACCATGATCACCATTGTGGGG	0.443																																					p.V45M		.	.											.	PFKFB1	.	.	0			c.G133A						.						151.0	126.0	134.0					X																	54989780		2203	4300	6503	SO:0001583	missense	5207	exon2			TGATCACCATTGT		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.133G>A	X.37:g.54989780C>T	ENSP00000364145:p.Val45Met	172.0	0.0		159.0	50.0	NM_001271804	B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	16.19	3.052740	0.55218	.	.	ENSG00000158571	ENST00000375006;ENST00000374992	T	0.51817	0.69	5.51	5.51	0.81932	6-phosphofructo-2-kinase (1);	0.054916	0.64402	D	0.000001	T	0.70527	0.3234	M	0.88377	2.95	0.29349	N	0.865493	P;D	0.65815	0.922;0.995	P;D	0.69479	0.776;0.964	T	0.72054	-0.4406	10	0.72032	D	0.01	-15.1306	10.9929	0.47559	0.0:0.9104:0.0:0.0896	.	45;45	Q4VBA9;P16118	.;F261_HUMAN	M	45	ENSP00000364131:V45M	ENSP00000364131:V45M	V	-	1	0	PFKFB1	55006505	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	1.753000	0.38359	2.454000	0.82982	0.600000	0.82982	GTG	.	.		0.443	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
USP1	7398	hgsc.bcm.edu	37	1	62913095	62913095	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr1:62913095A>G	ENST00000339950.4	+	7	2148	c.1333A>G	c.(1333-1335)Agt>Ggt	p.S445G	USP1_ENST00000371146.1_Missense_Mutation_p.S445G	NM_003368.4	NP_003359.3	O94782	UBP1_HUMAN	ubiquitin specific peptidase 1	445	USP.				DNA repair (GO:0006281)|monoubiquitinated protein deubiquitination (GO:0035520)|protein deubiquitination (GO:0016579)|regulation of DNA repair (GO:0006282)|response to UV (GO:0009411)|skeletal system development (GO:0001501)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	19		all_neural(321;0.0281)		BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535)		GGAATGTGAAAGTTTAACAGA	0.368																																					p.S445G	Ovarian(122;1846 2315 3982 19504)	.	.											.	USP1	.	.	0			c.A1333G						.						128.0	128.0	128.0					1																	62913095		2203	4300	6503	SO:0001583	missense	7398	exon7			TGTGAAAGTTTAA		CCDS621.1	1p31.3	2008-05-14	2005-08-08		ENSG00000162607	ENSG00000162607		"""Ubiquitin-specific peptidases"""	12607	protein-coding gene	gene with protein product		603478	"""ubiquitin specific protease 1"""			12838346	Standard	NM_003368		Approved		uc001dak.2	O94782	OTTHUMG00000008972	ENST00000339950.4:c.1333A>G	1.37:g.62913095A>G	ENSP00000343526:p.Ser445Gly	94.0	0.0		103.0	9.0	NM_001017415	A0PJ95|D3DQ57|Q05BX7|Q59H66|Q9UFR0|Q9UNJ3	Missense_Mutation	SNP	ENST00000339950.4	37	CCDS621.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.699753	0.68501	.	.	ENSG00000162607	ENST00000371146;ENST00000339950	T;T	0.30981	1.51;1.51	5.79	4.6	0.57074	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.137895	0.64402	D	0.000003	T	0.31040	0.0784	N	0.25890	0.77	0.35654	D	0.812016	D	0.54964	0.969	P	0.56163	0.793	T	0.24977	-1.0145	10	0.27082	T	0.32	-13.7836	9.0434	0.36331	0.6765:0.0:0.0:0.3235	.	445	O94782	UBP1_HUMAN	G	445	ENSP00000360188:S445G;ENSP00000343526:S445G	ENSP00000343526:S445G	S	+	1	0	USP1	62685683	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.157000	0.58144	2.215000	0.71742	0.528000	0.53228	AGT	.	.		0.368	USP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024881.1	NM_001017415	
FIZ1	84922	hgsc.bcm.edu	37	19	56104976	56104976	+	Missense_Mutation	SNP	C	C	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:56104976C>T	ENST00000221665.3	-	3	420	c.331G>A	c.(331-333)Gtc>Atc	p.V111I	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	111					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCTCGCAGACCAGGCAGCAG	0.667																																					p.V111I		.	.											.	FIZ1	.	.	0			c.G331A						.						12.0	17.0	15.0					19																	56104976		1893	3702	5595	SO:0001583	missense	84922	exon3			CGCAGACCAGGCA	AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.331G>A	19.37:g.56104976C>T	ENSP00000221665:p.Val111Ile	108.0	0.0		127.0	27.0	NM_032836	A2RU72|Q6ZMJ7	Missense_Mutation	SNP	ENST00000221665.3	37	CCDS12928.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.837455	0.32513	.	.	ENSG00000179943	ENST00000221665	T	0.18016	2.24	3.63	2.59	0.31030	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12732	0.0309	N	0.20304	0.555	0.80722	D	1	B	0.24618	0.107	B	0.33690	0.168	T	0.12477	-1.0546	9	0.72032	D	0.01	-17.0241	8.6145	0.33822	0.0:0.8818:0.0:0.1182	.	111	Q96SL8	FIZ1_HUMAN	I	111	ENSP00000221665:V111I	ENSP00000221665:V111I	V	-	1	0	FIZ1	60796788	0.000000	0.05858	1.000000	0.80357	0.987000	0.75469	1.225000	0.32551	2.028000	0.59812	0.561000	0.74099	GTC	.	.		0.667	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453350.1	NM_032836	
CACNG2	10369	hgsc.bcm.edu	37	22	36960731	36960731	+	Silent	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr22:36960731G>A	ENST00000300105.6	-	4	1620	c.639C>T	c.(637-639)cgC>cgT	p.R213R	RP5-1119A7.17_ENST00000562756.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	213					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.R213R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCCGTGGCGCGGGCCGTGG	0.677																																					p.R213R		.	.											.	CACNG2	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C639T						.						78.0	93.0	88.0					22																	36960731		2203	4298	6501	SO:0001819	synonymous_variant	10369	exon4			CGTGGCGCGGGCC	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.639C>T	22.37:g.36960731G>A		20.0	0.0		22.0	10.0	NM_006078	Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	CCDS13931.1																																																																																			.	.		0.677	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2		
BMP1	649	hgsc.bcm.edu	37	8	22052004	22052004	+	Silent	SNP	G	G	A	rs199778498		TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:22052004G>A	ENST00000306385.5	+	11	2014	c.1344G>A	c.(1342-1344)tcG>tcA	p.S448S	BMP1_ENST00000306349.8_Silent_p.S448S|BMP1_ENST00000397814.3_Silent_p.S448S|BMP1_ENST00000397816.3_Silent_p.S448S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	448	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACATTCAATCGCCCAACTACC	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18059	0.0		0.0	False		,,,				2504	0.0				p.S448S		.	.											.	BMP1	.	.	0			c.G1344A						.						123.0	112.0	116.0					8																	22052004		2203	4300	6503	SO:0001819	synonymous_variant	649	exon11			TCAATCGCCCAAC		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1344G>A	8.37:g.22052004G>A		131.0	0.0		120.0	51.0	NM_001199	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																			G|0.999;A|0.000	.		0.582	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
ATP8A1	10396	hgsc.bcm.edu	37	4	42553255	42553255	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr4:42553255A>G	ENST00000381668.5	-	18	1793	c.1562T>C	c.(1561-1563)gTt>gCt	p.V521A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.V506A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	521					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCCAGTGAAAACAAAATTCAA	0.338																																					p.V521A		.	.											.	ATP8A1	.	.	0			c.T1562C						.						123.0	126.0	125.0					4																	42553255		2203	4300	6503	SO:0001583	missense	10396	exon18			GTGAAAACAAAAT	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.1562T>C	4.37:g.42553255A>G	ENSP00000371084:p.Val521Ala	147.0	0.0		152.0	41.0	NM_006095	Q32M35|Q32M36|Q4W5J7|Q4W5P2	Missense_Mutation	SNP	ENST00000381668.5	37	CCDS3466.1	.	.	.	.	.	.	.	.	.	.	A	18.32	3.598513	0.66332	.	.	ENSG00000124406	ENST00000381668;ENST00000264449	T;T	0.65732	-0.17;-0.17	5.49	5.49	0.81192	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.067148	0.64402	D	0.000014	T	0.76140	0.3946	M	0.70108	2.13	0.80722	D	1	D;P;D	0.55605	0.963;0.813;0.972	D;P;P	0.68621	0.959;0.714;0.826	T	0.73288	-0.4030	10	0.22109	T	0.4	.	15.5992	0.76611	1.0:0.0:0.0:0.0	.	506;506;521	B4DII6;Q32M35;Q9Y2Q0	.;.;AT8A1_HUMAN	A	521;506	ENSP00000371084:V521A;ENSP00000264449:V506A	ENSP00000264449:V506A	V	-	2	0	ATP8A1	42248012	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.521000	0.73778	2.080000	0.62538	0.477000	0.44152	GTT	.	.		0.338	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095	
RARB	5915	hgsc.bcm.edu	37	3	25622157	25622157	+	Missense_Mutation	SNP	G	G	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr3:25622157G>T	ENST00000404969.1	+	5	751	c.751G>T	c.(751-753)Ggc>Tgc	p.G251C	RARB_ENST00000437042.2_Missense_Mutation_p.G132C|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000458646.1_Missense_Mutation_p.G132C|RARB_ENST00000330688.4_Missense_Mutation_p.G244C			P10826	RARB_HUMAN	retinoic acid receptor, beta	251	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TGGTTTCACTGGCTTGACCAT	0.532																																					p.G244C		.	.											.	RARB	.	.	0			c.G730T						.						140.0	123.0	129.0					3																	25622157		2203	4300	6503	SO:0001583	missense	5915	exon5			TTCACTGGCTTGA	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.751G>T	3.37:g.25622157G>T	ENSP00000385865:p.Gly251Cys	92.0	0.0		100.0	4.0	NM_000965	P12891|Q00989|Q15298|Q9UN48	Missense_Mutation	SNP	ENST00000404969.1	37		.	.	.	.	.	.	.	.	.	.	G	14.09	2.430876	0.43122	.	.	ENSG00000077092	ENST00000383772;ENST00000404969;ENST00000538226;ENST00000437042;ENST00000330688;ENST00000458646	T;T;T;T;T	0.36878	1.23;1.23;1.23;1.23;1.23	5.2	0.492	0.16872	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.279370	0.40469	N	0.001084	T	0.30916	0.0780	N	0.22421	0.69	0.24569	N	0.993934	P;P	0.48089	0.905;0.758	P;P	0.51701	0.581;0.677	T	0.15378	-1.0439	10	0.66056	D	0.02	.	8.563	0.33523	0.5988:0.0:0.4012:0.0	.	251;244	P10826;F1D8S6	RARB_HUMAN;.	C	251;251;251;132;244;132	ENSP00000373282:G251C;ENSP00000385865:G251C;ENSP00000398840:G132C;ENSP00000332296:G244C;ENSP00000391391:G132C	ENSP00000332296:G244C	G	+	1	0	RARB	25597161	0.048000	0.20356	0.772000	0.31596	0.655000	0.38815	0.467000	0.22035	0.146000	0.19002	-0.424000	0.05967	GGC	.	.		0.532	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
FLNA	2316	hgsc.bcm.edu	37	X	153586830	153586830	+	Missense_Mutation	SNP	A	A	T			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chrX:153586830A>T	ENST00000369850.3	-	27	4817	c.4581T>A	c.(4579-4581)gaT>gaA	p.D1527E	FLNA_ENST00000369856.3_5'Flank|FLNA_ENST00000422373.1_Missense_Mutation_p.D1527E|FLNA_ENST00000360319.4_Missense_Mutation_p.D1527E|FLNA_ENST00000344736.4_Missense_Mutation_p.D1527E	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1527	Interaction with furin. {ECO:0000250}.				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)					GTACCTCTTCATCTCCATACA	0.587																																					p.D1527E		.	.											.	FLNA	.	.	0			c.T4581A						.						76.0	76.0	76.0					X																	153586830		2127	4231	6358	SO:0001583	missense	2316	exon27			CTCTTCATCTCCA	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.4581T>A	X.37:g.153586830A>T	ENSP00000358866:p.Asp1527Glu	154.0	0.0		164.0	29.0	NM_001456	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	ENST00000369850.3	37	CCDS48194.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670550	0.29693	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91	5.47	-10.9	0.00192	Immunoglobulin E-set (2);Immunoglobulin-like fold (1);	0.267031	0.32918	N	0.005497	T	0.80813	0.4695	L	0.39514	1.22	0.54753	D	0.999982	B;B	0.19073	0.033;0.019	B;B	0.25291	0.059;0.029	T	0.61783	-0.6992	10	0.25106	T	0.35	.	4.4855	0.11788	0.5713:0.1392:0.2026:0.0869	.	1527;1527	P21333-2;P21333	.;FLNA_HUMAN	E	1527;1500;1527;1527;1527	ENSP00000353467:D1527E;ENSP00000416926:D1527E;ENSP00000358866:D1527E;ENSP00000358863:D1527E	ENSP00000358863:D1527E	D	-	3	2	FLNA	153240024	0.000000	0.05858	0.145000	0.22337	0.767000	0.43475	-4.369000	0.00245	-2.879000	0.00320	-0.577000	0.04142	GAT	.	.		0.587	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058942.3		
DECR1	1666	hgsc.bcm.edu	37	8	91031397	91031397	+	Silent	SNP	T	T	C			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:91031397T>C	ENST00000220764.2	+	4	502	c.414T>C	c.(412-414)ccT>ccC	p.P138P	DECR1_ENST00000522161.1_Silent_p.P129P|DECR1_ENST00000519007.1_3'UTR	NM_001359.1	NP_001350.1	Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	138					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2,4-dienoyl-CoA reductase (NADPH) activity (GO:0008670)|NADPH binding (GO:0070402)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CAGGACATCCTAATGTAAGTG	0.373																																					p.P138P		.	.											.	DECR1	.	.	0			c.T414C						.						126.0	106.0	113.0					8																	91031397		2203	4300	6503	SO:0001819	synonymous_variant	1666	exon4			ACATCCTAATGTA	L26050	CCDS6250.1	8q21.3	2011-09-14			ENSG00000104325	ENSG00000104325		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	2753	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 18C, member 1"""	222745		DECR		7818482, 19027726	Standard	NM_001359		Approved	SDR18C1	uc003yek.1	Q16698	OTTHUMG00000163829	ENST00000220764.2:c.414T>C	8.37:g.91031397T>C		78.0	0.0		106.0	37.0	NM_001359	B7Z6B8|Q2M304|Q93085	Silent	SNP	ENST00000220764.2	37	CCDS6250.1																																																																																			.	.		0.373	DECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375822.1		
LAMP5	24141	hgsc.bcm.edu	37	20	9510307	9510307	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr20:9510307A>G	ENST00000246070.2	+	6	1175	c.683A>G	c.(682-684)gAt>gGt	p.D228G	LAMP5_ENST00000427562.2_Missense_Mutation_p.D184G	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	228						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											TGCCCAGTGGATGAGCGGGAG	0.468																																					p.D228G		.	.											.	.	.	.	0			c.A683G						.						94.0	78.0	83.0					20																	9510307		2203	4300	6503	SO:0001583	missense	24141	exon6			CAGTGGATGAGCG	AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.683A>G	20.37:g.9510307A>G	ENSP00000246070:p.Asp228Gly	105.0	0.0		153.0	25.0	NM_012261	B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	ENST00000246070.2	37	CCDS13106.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.043371	0.75732	.	.	ENSG00000125869	ENST00000246070;ENST00000427562	T;T	0.43294	0.95;0.95	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.47484	-0.9114	9	.	.	.	-18.7431	16.8061	0.85666	1.0:0.0:0.0:0.0	.	184;228	Q9UJQ1-2;Q9UJQ1	.;CT103_HUMAN	G	228;184	ENSP00000246070:D228G;ENSP00000406360:D184G	.	D	+	2	0	C20orf103	9458307	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	8.451000	0.90343	2.367000	0.80283	0.528000	0.53228	GAT	.	.		0.468	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077946.2	NM_012261	
SBNO1	55206	hgsc.bcm.edu	37	12	123782650	123782650	+	Missense_Mutation	SNP	T	T	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr12:123782650T>A	ENST00000602398.1	-	31	4041	c.3914A>T	c.(3913-3915)tAt>tTt	p.Y1305F	SBNO1_ENST00000602750.1_Missense_Mutation_p.Y1304F|SBNO1_ENST00000420886.2_Missense_Mutation_p.Y1305F|SBNO1_ENST00000267176.4_Missense_Mutation_p.Y1304F			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1305					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACATAATACATAATATGTACG	0.433																																					p.Y1305F		.	.											.	SBNO1	.	.	0			c.A3914T						.						143.0	126.0	132.0					12																	123782650		2203	4300	6503	SO:0001583	missense	55206	exon30			AATACATAATATG	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3914A>T	12.37:g.123782650T>A	ENSP00000473665:p.Tyr1305Phe	100.0	0.0		138.0	42.0	NM_001167856	Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.181519	0.38511	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	D;D	0.82711	-1.64;-1.64	6.03	6.03	0.97812	.	0.239229	0.35525	N	0.003153	T	0.71863	0.3390	N	0.16201	0.385	0.33421	D	0.579876	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.71813	-0.4479	10	0.27785	T	0.31	-4.6331	16.6126	0.84892	0.0:0.0:0.0:1.0	.	1305;1304	A3KN83;A3KN83-2	SBNO1_HUMAN;.	F	1305;1304	ENSP00000387361:Y1305F;ENSP00000267176:Y1304F	ENSP00000267176:Y1304F	Y	-	2	0	SBNO1	122348603	1.000000	0.71417	0.881000	0.34555	0.991000	0.79684	2.571000	0.45990	2.322000	0.78497	0.529000	0.55759	TAT	.	.		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
RGS22	26166	hgsc.bcm.edu	37	8	100994297	100994297	+	Silent	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr8:100994297A>G	ENST00000360863.6	-	22	3422	c.3228T>C	c.(3226-3228)atT>atC	p.I1076I	RGS22_ENST00000523437.1_Silent_p.I1064I|RGS22_ENST00000523287.1_Silent_p.I895I	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1076	RGS 2. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TAATAGTTGTAATCTTCTTCT	0.373																																					p.I1076I		.	.											.	RGS22	.	.	0			c.T3228C						.						120.0	114.0	116.0					8																	100994297		1863	4100	5963	SO:0001819	synonymous_variant	26166	exon22			AGTTGTAATCTTC	AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.3228T>C	8.37:g.100994297A>G		83.0	0.0		95.0	31.0	NM_015668	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	CCDS43758.1																																																																																			.	.		0.373	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
ZNF441	126068	hgsc.bcm.edu	37	19	11892231	11892231	+	Missense_Mutation	SNP	A	A	G			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr19:11892231A>G	ENST00000357901.4	+	4	1694	c.1592A>G	c.(1591-1593)tAt>tGt	p.Y531C	ZNF441_ENST00000454339.2_Missense_Mutation_p.Y464C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	531					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAGAGACCCTATAAGTGTAAA	0.418																																					p.Y531C		.	.											.	ZNF441	.	.	0			c.A1592G						.						50.0	52.0	51.0					19																	11892231		2203	4299	6502	SO:0001583	missense	126068	exon4			GACCCTATAAGTG	AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1592A>G	19.37:g.11892231A>G	ENSP00000350576:p.Tyr531Cys	38.0	0.0		42.0	10.0	NM_152355		Missense_Mutation	SNP	ENST00000357901.4	37	CCDS12266.2	.	.	.	.	.	.	.	.	.	.	-	14.46	2.540618	0.45280	.	.	ENSG00000197044	ENST00000409902;ENST00000357901;ENST00000454339	T;T	0.25414	1.8;1.8	1.22	0.153	0.14897	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26340	0.0643	M	0.75085	2.285	0.09310	N	1	P	0.46220	0.874	B	0.42738	0.396	T	0.23368	-1.0190	9	0.87932	D	0	.	2.1633	0.03830	0.3523:0.0:0.3807:0.2669	.	531	Q8N8Z8	ZN441_HUMAN	C	487;531;464	ENSP00000350576:Y531C;ENSP00000403738:Y464C	ENSP00000350576:Y531C	Y	+	2	0	ZNF441	11753231	0.001000	0.12720	0.015000	0.15790	0.883000	0.51084	0.225000	0.17757	-0.012000	0.14223	0.254000	0.18369	TAT	.	.		0.418	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335273.3	NM_152355	
TLE1	7088	hgsc.bcm.edu	37	9	84208092	84208092	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FV-A495-01A-11D-A25V-10	TCGA-FV-A495-10A-01D-A25V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina HiSeq	84fe77b4-f6cc-49bf-a6b9-1621ec9394f8	88a0f90d-e075-45da-b4bf-8dfc9fd6b6a8	g.chr9:84208092G>A	ENST00000376499.3	-	15	2493	c.1429C>T	c.(1429-1431)Cag>Tag	p.Q477*		NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	477					multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GTGTTGATCTGGCGAGCATGC	0.617																																					p.Q477X	NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)	.	.											.	TLE1	.	.	0			c.C1429T						.						121.0	114.0	116.0					9																	84208092		2203	4300	6503	SO:0001587	stop_gained	7088	exon15			TGATCTGGCGAGC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.1429C>T	9.37:g.84208092G>A	ENSP00000365682:p.Gln477*	129.0	0.0		154.0	56.0	NM_005077	A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP	ENST00000376499.3	37	CCDS6661.1	.	.	.	.	.	.	.	.	.	.	g	49	14.973096	0.99817	.	.	ENSG00000196781	ENST00000376499	.	.	.	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-16.5744	20.422	0.99049	0.0:0.0:1.0:0.0	.	.	.	.	X	477	.	ENSP00000365682:Q477X	Q	-	1	0	TLE1	83397912	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CAG	.	.		0.617	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055407.1	NM_005077	
