#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_Confidence	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_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	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_dbSNP_PopFreq	i_dbSNP_Strength	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
SUCO	51430	hgsc.bcm.edu	37	1	172558934	172558934	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr1:172558934G>T	ENST00000263688.3	+	18	2912	c.2693G>T	c.(2692-2694)gGa>gTa	p.G898V	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Missense_Mutation_p.G1050V|SUCO_ENST00000367723.4_Missense_Mutation_p.G1049V	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	898					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											ACAGATCTAGGATATGCTAAT	0.358																																					p.G898V		Atlas-SNP	.											.	.	.	.	0			c.G2693T						PASS	.						89.0	94.0	92.0					1																	172558934		2201	4294	6495	SO:0001583	missense	51430	exon18			ATCTAGGATATGC	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2693G>T	chr1.hg19:g.172558934G>T	ENSP00000263688:p.Gly898Val	84.0	0.0	.		94.0	12.0	.	NM_014283	B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Missense_Mutation	SNP	ENST00000263688.3	hg19	CCDS1303.1	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181241	0.57800	.	.	ENSG00000094975	ENST00000367723;ENST00000263688	.	.	.	5.5	4.56	0.56223	.	0.049394	0.85682	N	0.000000	T	0.72399	0.3455	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.77593	-0.2530	9	0.72032	D	0.01	-8.9083	14.1563	0.65419	0.0:0.0:0.8488:0.1512	.	898;1050;898	B4DZJ3;Q5H945;Q9UBS9	.;.;OSPT_HUMAN	V	1050;898	.	ENSP00000263688:G898V	G	+	2	0	C1orf9	170825557	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	5.123000	0.64703	1.265000	0.44215	0.655000	0.94253	GGA	.	.	.	none		0.358	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227	
MTR	4548	hgsc.bcm.edu	37	1	236959019	236959019	+	Nonsense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr1:236959019C>T	ENST00000366577.5	+	1	410	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	MTR_ENST00000418145.2_Silent_p.S133S|MTR_ENST00000535889.1_Nonsense_Mutation_p.Q6*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	6					cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACCCGCGCTCCAAGACCTGTC	0.632																																					p.Q6X		Atlas-SNP	.											.	MTR	127	.	0			c.C16T						PASS	.						100.0	77.0	85.0					1																	236959019		2203	4300	6503	SO:0001587	stop_gained	4548	exon1			GCGCTCCAAGACC	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.16C>T	chr1.hg19:g.236959019C>T	ENSP00000355536:p.Gln6*	38.0	0.0	.		50.0	5.0	.	NM_000254	A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Nonsense_Mutation	SNP	ENST00000366577.5	hg19	CCDS1614.1	.	.	.	.	.	.	.	.	.	.	C	42	9.187394	0.99094	.	.	ENSG00000116984	ENST00000417743;ENST00000366577;ENST00000535889	.	.	.	3.06	1.09	0.20402	.	2.563360	0.01436	N	0.014912	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	25.1223	5.645	0.17584	0.2278:0.5511:0.221:0.0	.	.	.	.	X	6	.	ENSP00000355536:Q6X	Q	+	1	0	MTR	235025642	0.004000	0.15560	0.001000	0.08648	0.975000	0.68041	1.050000	0.30404	0.290000	0.22444	-0.340000	0.08031	CAA	.	.	.	none		0.632	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254	
TLR3	7098	hgsc.bcm.edu	37	4	187006026	187006026	+	Silent	SNP	A	A	G			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr4:187006026A>G	ENST00000296795.3	+	5	2818	c.2714A>G	c.(2713-2715)tAa>tGa	p.*905*	TLR3_ENST00000504367.1_Silent_p.*628*	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	0					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTGTACATTAAATTTATTTA	0.308																																					p.X905X		Atlas-SNP	.											.	TLR3	83	.	0			c.A2714G						PASS	.						29.0	32.0	31.0					4																	187006026		2196	4298	6494	SO:0001819	synonymous_variant	7098	exon5			TACATTAAATTTA	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2714A>G	chr4.hg19:g.187006026A>G		102.0	0.0	.		127.0	13.0	.	NM_003265	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	hg19	CCDS3846.1																																																																																			.	.	.	none		0.308	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4		
DNAH5	1767	hgsc.bcm.edu	37	5	13794140	13794140	+	Nonsense_Mutation	SNP	G	G	A	rs375053470		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr5:13794140G>A	ENST00000265104.4	-	48	8019	c.7915C>T	c.(7915-7917)Cga>Tga	p.R2639*		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2639	AAA 3. {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)					GTACCCATTCGTTTATCCACA	0.368									Kartagener syndrome																												p.R2639X		Atlas-SNP	.											.	DNAH5	868	.	0			c.C7915T	GRCh37	CI065821|CM020273	DNAH5	I|M		PASS	.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	103.0	98.0	100.0		7915	5.9	1.0	5		100	0,8600		0,0,4300	no	stop-gained	DNAH5	NM_001369.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		2639/4625	13794140	1,13005	2203	4300	6503	SO:0001587	stop_gained	1767	exon48	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	CCATTCGTTTATC	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.7915C>T	chr5.hg19:g.13794140G>A	ENSP00000265104:p.Arg2639*	137.0	0.0	.		130.0	38.0	.	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	g	50	16.923105	0.99875	2.27E-4	0.0	ENSG00000039139	ENST00000265104	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	.	.	.	X	2639	.	ENSP00000265104:R2639X	R	-	1	2	DNAH5	13847140	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.593000	0.54001	2.792000	0.96026	0.557000	0.71058	CGA	.	.	.	weak		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
HIST1H2BG	8339	hgsc.bcm.edu	37	6	26216532	26216532	+	Missense_Mutation	SNP	C	C	G			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr6:26216532C>G	ENST00000244601.3	-	1	340	c.340G>C	c.(340-342)Gaa>Caa	p.E114Q	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	114					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				TTGGTACCTTCGGACACTGCG	0.532																																					p.E114Q		Atlas-SNP	.											.	HIST1H2BG	25	.	0			c.G340C						PASS	.						97.0	97.0	97.0					6																	26216532		2203	4300	6503	SO:0001583	missense	8339	exon1			TACCTTCGGACAC	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.340G>C	chr6.hg19:g.26216532C>G	ENSP00000244601:p.Glu114Gln	58.0	0.0	.		85.0	21.0	.	NM_003518	P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	hg19	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	13.36	2.215310	0.39102	.	.	ENSG00000187990	ENST00000244601	T	0.48836	0.8	3.89	3.89	0.44902	.	0.000000	0.33457	U	0.004887	T	0.54581	0.1867	.	.	.	0.37512	D	0.91718	.	.	.	.	.	.	T	0.62695	-0.6800	7	0.72032	D	0.01	.	15.3699	0.74554	0.0:1.0:0.0:0.0	.	.	.	.	Q	114	ENSP00000244601:E114Q	ENSP00000244601:E114Q	E	-	1	0	HIST1H2BG	26324511	1.000000	0.71417	0.999000	0.59377	0.102000	0.19082	7.499000	0.81566	2.172000	0.68678	0.561000	0.74099	GAA	.	.	.	none		0.532	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518	
DEFB110	245913	hgsc.bcm.edu	37	6	49986773	49986773	+	Missense_Mutation	SNP	G	G	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr6:49986773G>T	ENST00000371148.2	-	2	166	c.121C>A	c.(121-123)Caa>Aaa	p.Q41K	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	41					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TTTTTACATTGACCATTACCT	0.388																																					p.Q41K		Atlas-SNP	.											.	DEFB110	5	.	0			c.C121A						PASS	.						186.0	163.0	171.0					6																	49986773		2203	4300	6503	SO:0001583	missense	245913	exon2			TACATTGACCATT	DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000371148.2:c.121C>A	chr6.hg19:g.49986773G>T	ENSP00000360190:p.Gln41Lys	54.0	0.0	.		73.0	41.0	.	NM_001037497	Q30KR0	Missense_Mutation	SNP	ENST00000371148.2	hg19	CCDS34475.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.456084	0.01071	.	.	ENSG00000203970	ENST00000371148	T	0.10382	2.88	4.77	2.84	0.33178	.	1.041720	0.07626	N	0.927868	T	0.02047	0.0064	.	.	.	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.45190	-0.9278	8	.	.	.	0.3027	7.7772	0.29043	0.0:0.1777:0.6386:0.1837	.	41	Q30KQ9	DB110_HUMAN	K	41	ENSP00000360190:Q41K	.	Q	-	1	0	DEFB110	50094732	0.473000	0.25878	0.887000	0.34795	0.012000	0.07955	1.013000	0.29937	1.191000	0.43056	0.655000	0.94253	CAA	.	.	.	none		0.388	DEFB110-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359664.1	NM_001037728	
PNLDC1	154197	hgsc.bcm.edu	37	6	160239629	160239629	+	Silent	SNP	C	C	T	rs146349877		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr6:160239629C>T	ENST00000610273.1	+	16	1338	c.1167C>T	c.(1165-1167)gaC>gaT	p.D389D	PNLDC1_ENST00000392167.3_Silent_p.D400D	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	389						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTACCTTGACGTGCTGGCTC	0.562																																					p.D389D		Atlas-SNP	.											.	PNLDC1	66	.	0			c.C1167T						PASS	.	C		0,4406		0,0,2203	90.0	83.0	86.0		1167	-8.8	0.8	6	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PNLDC1	NM_173516.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		389/521	160239629	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	154197	exon16			CCTTGACGTGCTG	AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1167C>T	chr6.hg19:g.160239629C>T		54.0	0.0	.		62.0	12.0	.	NM_173516	Q5TAP7|Q8N7X5	Silent	SNP	ENST00000610273.1	hg19	CCDS5271.1																																																																																			.	C|1.000;T|0.000	0.000	weak		0.562	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_173516	
DRD2	1813	hgsc.bcm.edu	37	11	113295145	113295145	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr11:113295145C>T	ENST00000362072.3	-	2	573	c.229G>A	c.(229-231)Gca>Aca	p.A77T	DRD2_ENST00000538967.1_Missense_Mutation_p.A77T|DRD2_ENST00000544518.1_Missense_Mutation_p.A77T|DRD2_ENST00000346454.3_Missense_Mutation_p.A77T|DRD2_ENST00000535984.1_5'UTR|DRD2_ENST00000542968.1_Missense_Mutation_p.A77T|DRD2_ENST00000355319.2_Missense_Mutation_p.A77T	NM_000795.3	NP_000786.1	P14416	DRD2_HUMAN	dopamine receptor D2	77					activation of protein kinase activity (GO:0032147)|adenohypophysis development (GO:0021984)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adult walking behavior (GO:0007628)|arachidonic acid secretion (GO:0050482)|associative learning (GO:0008306)|auditory behavior (GO:0031223)|axonogenesis (GO:0007409)|behavioral response to cocaine (GO:0048148)|behavioral response to ethanol (GO:0048149)|branching morphogenesis of a nerve (GO:0048755)|cellular calcium ion homeostasis (GO:0006874)|cerebral cortex GABAergic interneuron migration (GO:0021853)|circadian regulation of gene expression (GO:0032922)|dopamine metabolic process (GO:0042417)|feeding behavior (GO:0007631)|G-protein coupled receptor internalization (GO:0002031)|grooming behavior (GO:0007625)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|long-term memory (GO:0007616)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of circadian sleep/wake cycle, sleep (GO:0042321)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of insulin secretion (GO:0046676)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein secretion (GO:0050709)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)|neuron-neuron synaptic transmission (GO:0007270)|orbitofrontal cortex development (GO:0021769)|peristalsis (GO:0030432)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|pigmentation (GO:0043473)|positive regulation of cytokinesis (GO:0032467)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of receptor internalization (GO:0002092)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|prepulse inhibition (GO:0060134)|protein localization (GO:0008104)|regulation of cAMP metabolic process (GO:0030814)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of heart rate (GO:0002027)|regulation of locomotion involved in locomotory behavior (GO:0090325)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of potassium ion transport (GO:0043266)|regulation of sodium ion transport (GO:0002028)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, GABAergic (GO:0032228)|release of sequestered calcium ion into cytosol (GO:0051209)|response to amphetamine (GO:0001975)|response to axon injury (GO:0048678)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to histamine (GO:0034776)|response to hypoxia (GO:0001666)|response to inactivity (GO:0014854)|response to iron ion (GO:0010039)|response to light stimulus (GO:0009416)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to toxic substance (GO:0009636)|sensory perception of smell (GO:0007608)|striatum development (GO:0021756)|synapse assembly (GO:0007416)|synaptic transmission, dopaminergic (GO:0001963)|temperature homeostasis (GO:0001659)|visual learning (GO:0008542)|Wnt signaling pathway (GO:0016055)	acrosomal vesicle (GO:0001669)|axon (GO:0030424)|axon terminus (GO:0043679)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|sperm flagellum (GO:0036126)|synaptic vesicle membrane (GO:0030672)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity, coupled via Gi/Go (GO:0001591)|drug binding (GO:0008144)|identical protein binding (GO:0042802)|potassium channel regulator activity (GO:0015459)			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acepromazine(DB01614)|Acetophenazine(DB01063)|Alizapride(DB01425)|Amantadine(DB00915)|Amisulpride(DB06288)|Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Desipramine(DB01151)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Droperidol(DB00450)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Memantine(DB01043)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Metoclopramide(DB01233)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sertindole(DB06144)|Sulpiride(DB00391)|Tetrabenazine(DB04844)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TCGGCCACTGCGAGGCTGACG	0.632																																					p.A77T		Atlas-SNP	.											.	DRD2	98	.	0			c.G229A						PASS	.						135.0	105.0	115.0					11																	113295145		2201	4296	6497	SO:0001583	missense	1813	exon2			CCACTGCGAGGCT	M29066	CCDS8361.1, CCDS8362.1	11q22-q23	2012-08-08						"""GPCR / Class A : Dopamine receptors"""	3023	protein-coding gene	gene with protein product		126450					Standard	NM_000795		Approved		uc001poa.4	P14416		ENST00000362072.3:c.229G>A	chr11.hg19:g.113295145C>T	ENSP00000354859:p.Ala77Thr	59.0	0.0	.		71.0	4.0	.	NM_016574	Q9NZR3|Q9UPA9	Missense_Mutation	SNP	ENST00000362072.3	hg19	CCDS8361.1	.	.	.	.	.	.	.	.	.	.	C	36	5.614408	0.96649	.	.	ENSG00000149295	ENST00000355319;ENST00000346454;ENST00000362072;ENST00000544518;ENST00000542968;ENST00000538967;ENST00000543292	T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	H	0.99758	4.755	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.92664	0.6144	10	0.87932	D	0	.	18.9437	0.92613	0.0:1.0:0.0:0.0	.	77;77;77;77	F8VUV1;P14416-3;P14416-2;P14416	.;.;.;DRD2_HUMAN	T	77	ENSP00000347474:A77T;ENSP00000278597:A77T;ENSP00000354859:A77T;ENSP00000441068:A77T;ENSP00000442172:A77T;ENSP00000438215:A77T;ENSP00000438419:A77T	ENSP00000278597:A77T	A	-	1	0	DRD2	112800355	1.000000	0.71417	0.517000	0.27799	0.991000	0.79684	7.758000	0.85224	2.469000	0.83416	0.561000	0.74099	GCA	.	.	.	none		0.632	DRD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395834.1	NM_000795	
SARNP	84324	hgsc.bcm.edu	37	12	56182870	56182870	+	Missense_Mutation	SNP	T	T	C	rs138765992		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr12:56182870T>C	ENST00000336133.3	-	9	544	c.490A>G	c.(490-492)Atc>Gtc	p.I164V	SARNP_ENST00000552080.1_Missense_Mutation_p.I164V|SARNP_ENST00000444631.2_Missense_Mutation_p.I104V|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.N476S	NM_033082.3	NP_149073.1	P82979	SARNP_HUMAN	SAP domain containing ribonucleoprotein	164					mRNA export from nucleus (GO:0006406)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|transcription, DNA-templated (GO:0006351)	intracellular membrane-bounded organelle (GO:0043231)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	6						TTTCTGGAGATTGAAGAGACA	0.368																																					p.I164V		Atlas-SNP	.											.	SARNP	19	.	0			c.A490G						PASS	.	T	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	113.0	103.0	106.0		490	3.9	1.0	12	dbSNP_134	106	0,8600		0,0,4300	no	missense	SARNP	NM_033082.3	29	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	164/211	56182870	1,13005	2203	4300	6503	SO:0001583	missense	84324	exon9			TGGAGATTGAAGA	AJ409089	CCDS8892.1	12q13.2	2009-07-09				ENSG00000205323			24432	protein-coding gene	gene with protein product	"""hepatocellular carcinoma 1"", ""cytokine induced protein 29 kDa"""	610049				11356193, 11922608	Standard	NM_033082		Approved	THO1, Hcc-1, CIP29		P82979	OTTHUMG00000170441	ENST00000336133.3:c.490A>G	chr12.hg19:g.56182870T>C	ENSP00000337632:p.Ile164Val	52.0	0.0	.		65.0	7.0	.	NM_033082	A8K393|Q9P066	Missense_Mutation	SNP	ENST00000336133.3	hg19	CCDS8892.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.508|1.508	-0.550269|-0.550269	0.03996|0.03996	2.27E-4|2.27E-4	0.0|0.0	ENSG00000205323|ENSG00000257390	ENST00000444631;ENST00000336133;ENST00000552080|ENST00000546837	.|.	.|.	.|.	4.99|4.99	3.87|3.87	0.44632|0.44632	.|.	0.308918|.	0.37304|.	N|.	0.002142|.	T|T	0.11367|0.11367	0.0277|0.0277	N|N	0.01242|0.01242	-0.935|-0.935	0.30568|0.30568	N|N	0.763848|0.763848	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.12837|0.12837	-1.0532|-1.0532	9|5	0.02654|.	T|.	1|.	-16.7878|-16.7878	6.8802|6.8802	0.24168|0.24168	0.0:0.1004:0.0:0.8996|0.0:0.1004:0.0:0.8996	.|.	164|.	P82979|.	SARNP_HUMAN|.	V|S	104;164;164|476	.|.	ENSP00000337632:I164V|.	I|N	-|-	1|2	0|0	SARNP|RP11-762I7.5	54469137|54469137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	1.389000|1.389000	0.34453|0.34453	2.234000|2.234000	0.73211|0.73211	0.460000|0.460000	0.39030|0.39030	ATC|AAT	.	T|1.000;C|0.000	0.000	weak		0.368	SARNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409159.2	NM_033082	
NAV3	89795	hgsc.bcm.edu	37	12	78516053	78516053	+	Silent	SNP	G	G	A			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr12:78516053G>A	ENST00000397909.2	+	16	4256	c.4083G>A	c.(4081-4083)ccG>ccA	p.P1361P	NAV3_ENST00000536525.2_Silent_p.P1361P|NAV3_ENST00000228327.6_Silent_p.P1361P|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1361	Ser-rich.					membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGGATACTCCGAGCTACCAGT	0.577										HNSCC(70;0.22)																											p.P1361P		Atlas-SNP	.											NAV3,NS,carcinoma,0,1	NAV3	506	.	0			c.G4083A						PASS	.						109.0	105.0	106.0					12																	78516053		2014	4184	6198	SO:0001819	synonymous_variant	89795	exon16			TACTCCGAGCTAC	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4083G>A	chr12.hg19:g.78516053G>A		41.0	0.0	.		57.0	19.0	.	NM_014903	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	hg19																																																																																				.	.	.	none		0.577	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383	
IL32	9235	hgsc.bcm.edu	37	16	3119278	3119278	+	Missense_Mutation	SNP	C	C	A			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr16:3119278C>A	ENST00000534507.1	+	6	838	c.627C>A	c.(625-627)ttC>ttA	p.F209L	IL32_ENST00000008180.9_Missense_Mutation_p.F143L|IL32_ENST00000531965.1_Missense_Mutation_p.F153L|IL32_ENST00000548652.1_Missense_Mutation_p.F154L|IL32_ENST00000382213.3_Missense_Mutation_p.F154L|IL32_ENST00000551122.1_Intron|IL32_ENST00000525643.2_Missense_Mutation_p.F163L|IL32_ENST00000444393.3_Missense_Mutation_p.F163L|IL32_ENST00000552936.1_Missense_Mutation_p.F187L|IL32_ENST00000552664.1_Missense_Mutation_p.F163L|IL32_ENST00000533097.2_Missense_Mutation_p.F163L|IL32_ENST00000440815.3_Missense_Mutation_p.F163L|IL32_ENST00000549213.1_Intron|IL32_ENST00000526464.2_Missense_Mutation_p.F163L|IL32_ENST00000529550.1_Missense_Mutation_p.F163L|IL32_ENST00000551513.1_Missense_Mutation_p.F200L|IL32_ENST00000530538.2_Missense_Mutation_p.F163L|IL32_ENST00000530890.1_Missense_Mutation_p.F143L|IL32_ENST00000552356.1_Missense_Mutation_p.F143L|IL32_ENST00000528163.2_Missense_Mutation_p.F163L|IL32_ENST00000548476.1_Missense_Mutation_p.F209L|IL32_ENST00000529699.1_Missense_Mutation_p.F143L|IL32_ENST00000396887.3_Intron|RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000325568.5_Missense_Mutation_p.F163L|IL32_ENST00000548246.1_Missense_Mutation_p.F123L|IL32_ENST00000396890.2_Missense_Mutation_p.F209L			P24001	IL32_HUMAN	interleukin 32	209					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						TGTCCTCTTTCCAGTCCTACG	0.557																																					p.F163L		Atlas-SNP	.											.	IL32	32	.	0			c.C489A						PASS	.						99.0	125.0	116.0					16																	3119278		2197	4300	6497	SO:0001583	missense	9235	exon7			CTCTTTCCAGTCC	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.627C>A	chr16.hg19:g.3119278C>A	ENSP00000431775:p.Phe209Leu	143.0	0.0	.		176.0	11.0	.	NM_004221	A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Missense_Mutation	SNP	ENST00000534507.1	hg19		.	.	.	.	.	.	.	.	.	.	C	11.24	1.581265	0.28180	.	.	ENSG00000008517	ENST00000325568;ENST00000534507;ENST00000531965;ENST00000529699;ENST00000526464;ENST00000440815;ENST00000529550;ENST00000525643;ENST00000548807;ENST00000528163;ENST00000530890;ENST00000444393;ENST00000533097;ENST00000008180;ENST00000396890;ENST00000548652;ENST00000530538;ENST00000552936;ENST00000548476;ENST00000552664;ENST00000552356;ENST00000551513;ENST00000382213;ENST00000548246	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39592	1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07;1.07	1.81	-3.01	0.05463	.	.	.	.	.	T	0.16214	0.0390	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B	0.12630	0.002;0.006;0.006;0.006;0.006;0.006	B;B;B;B;B;B	0.06405	0.002;0.002;0.002;0.002;0.002;0.002	T	0.29792	-1.0000	9	0.02654	T	1	.	3.4077	0.07347	0.0:0.3182:0.215:0.4668	.	123;143;154;143;209;163	B8Q191;C6GKH1;A6NNM0;A8MPX0;P24001;P24001-2	.;.;.;.;IL32_HUMAN;.	L	163;209;153;143;163;163;163;163;209;163;143;163;163;143;209;154;163;187;209;163;143;200;154;123	ENSP00000324742:F163L;ENSP00000431775:F209L;ENSP00000433177:F153L;ENSP00000436937:F143L;ENSP00000450364:F163L;ENSP00000405063:F163L;ENSP00000437020:F163L;ENSP00000432218:F163L;ENSP00000448354:F209L;ENSP00000432850:F163L;ENSP00000433747:F143L;ENSP00000411958:F163L;ENSP00000432917:F163L;ENSP00000008180:F143L;ENSP00000380099:F209L;ENSP00000446624:F154L;ENSP00000436929:F163L;ENSP00000447033:F187L;ENSP00000449483:F209L;ENSP00000448683:F163L;ENSP00000446978:F143L;ENSP00000449147:F200L;ENSP00000371648:F154L;ENSP00000447979:F123L	ENSP00000008180:F143L	F	+	3	2	IL32	3059279	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.640000	0.05440	-0.850000	0.04152	-0.320000	0.08662	TTC	.	.	.	none		0.557	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2	NM_004221	
WDR59	79726	hgsc.bcm.edu	37	16	74976685	74976685	+	Missense_Mutation	SNP	T	T	C			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr16:74976685T>C	ENST00000262144.6	-	7	615	c.485A>G	c.(484-486)aAc>aGc	p.N162S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	162										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GGCAAGGCAGTTAGCATTTTT	0.502																																					p.N162S		Atlas-SNP	.											.	WDR59	66	.	0			c.A485G						PASS	.						90.0	82.0	85.0					16																	74976685		2198	4300	6498	SO:0001583	missense	79726	exon7			AGGCAGTTAGCAT	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.485A>G	chr16.hg19:g.74976685T>C	ENSP00000262144:p.Asn162Ser	67.0	0.0	.		98.0	7.0	.	NM_030581	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	hg19	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	T	15.56	2.869817	0.51588	.	.	ENSG00000103091	ENST00000262144;ENST00000536050	T	0.70164	-0.46	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.135443	0.64402	D	0.000005	T	0.57932	0.2087	L	0.35341	1.055	0.47778	D	0.999513	B;B	0.26002	0.042;0.139	B;B	0.21917	0.033;0.037	T	0.55661	-0.8106	10	0.48119	T	0.1	-29.498	16.1099	0.81255	0.0:0.0:0.0:1.0	.	162;162	Q6PJI9-2;Q6PJI9	.;WDR59_HUMAN	S	162;141	ENSP00000262144:N162S	ENSP00000262144:N162S	N	-	2	0	WDR59	73534186	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.564000	0.60830	2.285000	0.76669	0.533000	0.62120	AAC	.	.	.	none		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581	
ZNF521	25925	hgsc.bcm.edu	37	18	22805343	22805343	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr18:22805343C>T	ENST00000361524.3	-	4	2687	c.2539G>A	c.(2539-2541)Gct>Act	p.A847T	ZNF521_ENST00000538137.2_Missense_Mutation_p.A847T|ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000584787.1_Missense_Mutation_p.A627T	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	847					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGCTCGGAAGCTCCATTTGTT	0.478			T	PAX5	ALL																																p.A847T		Atlas-SNP	.		Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	.	ZNF521	269	.	0			c.G2539A						PASS	.						188.0	179.0	182.0					18																	22805343		2203	4300	6503	SO:0001583	missense	25925	exon4			CGGAAGCTCCATT	AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2539G>A	chr18.hg19:g.22805343C>T	ENSP00000354794:p.Ala847Thr	94.0	0.0	.		110.0	7.0	.	NM_015461	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	ENST00000361524.3	hg19	CCDS32806.1	.	.	.	.	.	.	.	.	.	.	C	6.220	0.408661	0.11812	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.08984	3.03;3.04	5.93	5.93	0.95920	.	0.055023	0.85682	D	0.000000	T	0.06280	0.0162	N	0.08118	0	0.38015	D	0.934651	B	0.16396	0.017	B	0.14578	0.011	T	0.47837	-0.9086	10	0.23891	T	0.37	-15.1198	20.3539	0.98825	0.0:1.0:0.0:0.0	.	847	Q96K83	ZN521_HUMAN	T	847;881;847	ENSP00000354794:A847T;ENSP00000382352:A847T	ENSP00000354794:A847T	A	-	1	0	ZNF521	21059341	0.995000	0.38212	0.498000	0.27564	0.181000	0.23173	4.541000	0.60670	2.826000	0.97356	0.655000	0.94253	GCT	.	.	.	none		0.478	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446781.2	NM_015461	
ZNF814	730051	hgsc.bcm.edu	37	19	58385790	58385790	+	Missense_Mutation	SNP	G	G	T	rs111727691		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr19:58385790G>T	ENST00000435989.2	-	3	1202	c.968C>A	c.(967-969)cCt>cAt	p.P323H	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	323					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ACATTCATAAGGTCTTTTCCC	0.358																																					p.P323H		Atlas-SNP	.											.	ZNF814	93	.	0			c.C968A						PASS	.						15.0	12.0	13.0					19																	58385790		688	1563	2251	SO:0001583	missense	730051	exon3			TCATAAGGTCTTT		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.968C>A	chr19.hg19:g.58385790G>T	ENSP00000410545:p.Pro323His	51.0	0.0	.		71.0	9.0	.	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	8.139	0.784825	0.16189	.	.	ENSG00000204514	ENST00000435989	T	0.29397	1.57	2.27	1.18	0.20946	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.57080	0.2029	M	0.90019	3.08	0.20764	N	0.999853	D	0.89917	1.0	D	0.67231	0.95	T	0.46247	-0.9205	9	0.66056	D	0.02	.	9.258	0.37595	0.0:0.0:0.7811:0.2189	.	323	B7Z6K7	ZN814_HUMAN	H	323	ENSP00000410545:P323H	ENSP00000410545:P323H	P	-	2	0	ZNF814	63077602	0.000000	0.05858	0.028000	0.17463	0.016000	0.09150	-0.439000	0.06897	0.330000	0.23485	-1.407000	0.01130	CCT	.	G|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
ZNF814	730051	hgsc.bcm.edu	37	19	58385793	58385793	+	Missense_Mutation	SNP	C	C	T	rs113623532		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr19:58385793C>T	ENST00000435989.2	-	3	1199	c.965G>A	c.(964-966)aGa>aAa	p.R322K	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	322					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TTCATAAGGTCTTTTCCCAGT	0.358																																					p.R322K		Atlas-SNP	.											.	ZNF814	93	.	0			c.G965A						PASS	.						15.0	12.0	13.0					19																	58385793		687	1562	2249	SO:0001583	missense	730051	exon3			TAAGGTCTTTTCC		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.965G>A	chr19.hg19:g.58385793C>T	ENSP00000410545:p.Arg322Lys	48.0	0.0	.		69.0	8.0	.	NM_001144989	A6NF35	Missense_Mutation	SNP	ENST00000435989.2	hg19	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	0.023	-1.395361	0.01175	.	.	ENSG00000204514	ENST00000435989	T	0.12361	2.69	2.27	9.47E-4	0.14044	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03608	0.0103	N	0.02225	-0.63	0.09310	N	0.999999	B	0.29301	0.241	B	0.28916	0.096	T	0.40534	-0.9558	9	0.02654	T	1	.	4.6969	0.12808	0.0:0.4166:0.0:0.5834	.	322	B7Z6K7	ZN814_HUMAN	K	322	ENSP00000410545:R322K	ENSP00000410545:R322K	R	-	2	0	ZNF814	63077605	0.000000	0.05858	0.024000	0.17045	0.009000	0.06853	-1.883000	0.01623	0.331000	0.23511	-1.381000	0.01174	AGA	.	C|0.500;T|0.500	0.500	weak		0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
RALGAPB	57148	hgsc.bcm.edu	37	20	37163753	37163753	+	Missense_Mutation	SNP	G	G	A	rs376931767		TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr20:37163753G>A	ENST00000262879.6	+	16	2566	c.2282G>A	c.(2281-2283)cGc>cAc	p.R761H	RALGAPB_ENST00000397038.1_Missense_Mutation_p.R539H|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R757H|RALGAPB_ENST00000397040.1_Missense_Mutation_p.R761H			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	761					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CTCCTGATTCGCAGCATTCAT	0.502																																					p.R761H		Atlas-SNP	.											.	RALGAPB	134	.	0			c.G2282A						PASS	.	G	HIS/ARG	0,4406		0,0,2203	180.0	174.0	176.0		2282	5.7	1.0	20		176	1,8599	1.2+/-3.3	0,1,4299	no	missense	RALGAPB	NM_020336.2	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	761/1495	37163753	1,13005	2203	4300	6503	SO:0001583	missense	57148	exon16			TGATTCGCAGCAT	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.2282G>A	chr20.hg19:g.37163753G>A	ENSP00000262879:p.Arg761His	54.0	0.0	.		79.0	39.0	.	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	hg19	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000557	0.93227	0.0	1.16E-4	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	.	.	.	5.68	5.68	0.88126	.	0.047499	0.85682	D	0.000000	T	0.77778	0.4181	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.934;0.989;0.989;0.989	T	0.77983	-0.2382	9	0.62326	D	0.03	.	19.7782	0.96405	0.0:0.0:1.0:0.0	.	589;761;757;761	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	H	761;757;761;539;761;589	.	ENSP00000262879:R761H	R	+	2	0	RALGAPB	36597167	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.357000	0.97099	2.668000	0.90789	0.591000	0.81541	CGC	.	.	.	weak		0.502	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
URB1	9875	hgsc.bcm.edu	37	21	33744844	33744844	+	Missense_Mutation	SNP	A	A	G			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr21:33744844A>G	ENST00000382751.3	-	8	1088	c.973T>C	c.(973-975)Tac>Cac	p.Y325H		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	325						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GATGCATCGTAAAAATTAATT	0.443																																					p.Y325H		Atlas-SNP	.											.	URB1	176	.	0			c.T973C						PASS	.						105.0	88.0	93.0					21																	33744844		692	1591	2283	SO:0001583	missense	9875	exon8			CATCGTAAAAATT	AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.973T>C	chr21.hg19:g.33744844A>G	ENSP00000372199:p.Tyr325His	26.0	0.0	.		35.0	20.0	.	NM_014825	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	ENST00000382751.3	hg19	CCDS46645.1	.	.	.	.	.	.	.	.	.	.	A	12.86	2.064197	0.36373	.	.	ENSG00000142207	ENST00000382751	T	0.30981	1.51	4.97	4.97	0.65823	.	0.074089	0.56097	D	0.000031	T	0.19846	0.0477	N	0.17674	0.51	0.45567	D	0.998516	B	0.33171	0.4	B	0.31946	0.138	T	0.06499	-1.0823	10	0.15952	T	0.53	-12.4754	14.5986	0.68424	1.0:0.0:0.0:0.0	.	325	O60287	NPA1P_HUMAN	H	325	ENSP00000372199:Y325H	ENSP00000372199:Y325H	Y	-	1	0	URB1	32666715	1.000000	0.71417	0.936000	0.37596	0.924000	0.55760	5.227000	0.65305	1.971000	0.57363	0.455000	0.32223	TAC	.	.	.	none		0.443	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139400.2		
CCT8L2	150160	hgsc.bcm.edu	37	22	17072976	17072976	+	Silent	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr22:17072976C>T	ENST00000359963.3	-	1	724	c.465G>A	c.(463-465)ctG>ctA	p.L155L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	155					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CCAAAGGCCCCAGAGATTGGA	0.647																																					p.L155L		Atlas-SNP	.											.	CCT8L2	150	.	0			c.G465A						PASS	.						53.0	52.0	52.0					22																	17072976		2203	4300	6503	SO:0001819	synonymous_variant	150160	exon1			AGGCCCCAGAGAT	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.465G>A	chr22.hg19:g.17072976C>T		76.0	0.0	.		95.0	7.0	.	NM_014406	A4QPH3|Q9UJS3	Silent	SNP	ENST00000359963.3	hg19	CCDS13738.1																																																																																			.	.	.	none		0.647	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1		
PANX2	56666	hgsc.bcm.edu	37	22	50615492	50615492	+	Silent	SNP	G	G	A			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr22:50615492G>A	ENST00000395842.2	+	2	351	c.351G>A	c.(349-351)tcG>tcA	p.S117S	PANX2_ENST00000159647.5_Silent_p.S117S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	117					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGTGGCCGTCGCTGTTTGAGC	0.701																																					p.S117S		Atlas-SNP	.											.	PANX2	69	.	0			c.G351A						PASS	.						31.0	26.0	28.0					22																	50615492		2195	4292	6487	SO:0001819	synonymous_variant	56666	exon2			GCCGTCGCTGTTT		CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.351G>A	chr22.hg19:g.50615492G>A		49.0	0.0	.		75.0	33.0	.	NM_052839	B7Z684|Q96RD5|Q9UGX8	Silent	SNP	ENST00000395842.2	hg19	CCDS14085.2																																																																																			.	.	.	none		0.701	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
TEX11	56159	hgsc.bcm.edu	37	X	70099888	70099888	+	Missense_Mutation	SNP	C	C	T			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chrX:70099888C>T	ENST00000395889.2	-	4	309	c.154G>A	c.(154-156)Gac>Aac	p.D52N	TEX11_ENST00000374333.2_Missense_Mutation_p.D37N|TEX11_ENST00000344304.3_Missense_Mutation_p.D52N	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	52					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)				breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TTTGCTATGTCGCTGAAGAGT	0.333																																					p.D52N		Atlas-SNP	.											.	TEX11	132	.	0			c.G154A						PASS	.						144.0	116.0	125.0					X																	70099888		2203	4299	6502	SO:0001583	missense	56159	exon4			CTATGTCGCTGAA	AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.154G>A	chrX.hg19:g.70099888C>T	ENSP00000379226:p.Asp52Asn	67.0	0.0	.		64.0	8.0	.	NM_001003811	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	hg19	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053862	0.08291	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000344304	T;T;T	0.32272	1.46;1.46;1.46	5.2	2.38	0.29361	.	0.554058	0.17534	N	0.170796	T	0.14227	0.0344	L	0.27053	0.805	0.09310	N	1	P;B	0.36125	0.538;0.403	B;B	0.24155	0.051;0.023	T	0.15009	-1.0452	9	.	.	.	-1.3832	4.1683	0.10317	0.0:0.5942:0.1888:0.2169	.	37;52	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	N	37;52;52	ENSP00000363453:D37N;ENSP00000379226:D52N;ENSP00000340995:D52N	.	D	-	1	0	TEX11	70016613	0.015000	0.18098	0.001000	0.08648	0.196000	0.23810	0.769000	0.26604	0.178000	0.19917	0.594000	0.82650	GAC	.	.	.	none		0.333	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
TXNIP	10628	hgsc.bcm.edu	37	1	145440061	145440064	+	Frame_Shift_Del	DEL	AAAG	AAAG	-			TCGA-5P-A9K8-01A-11D-A42J-10	TCGA-5P-A9K8-10A-01D-A42M-10	AAAG	AAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	1dda8cfa-899d-4d02-a2c8-ebb1169560aa	dfacd90a-6863-4d3d-a67d-2a39274e2691	g.chr1:145440061_145440064delAAAG	ENST00000369317.4	+	4	829_832	c.495_498delAAAG	c.(493-498)gaaaagfs	p.EK165fs	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	165					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)	p.K166R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTAAAAAAGAAAAGAAAGTTTCCT	0.417																																					p.165_166del		Atlas-Indel,Pindel	.											.	TXNIP	51	.	1	Substitution - Missense(1)	ovary(1)	c.494_497del						PASS	.																																			SO:0001589	frameshift_variant	10628	exon4			.	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.495_498delAAAG	chr1.hg19:g.145440065_145440068delAAAG	ENSP00000358323:p.Glu165fs	46.0	0.0	0		47.0	18.0	0.382979	NM_006472	B4E3D3|Q16226|Q6PML0|Q9BXG9	Frame_Shift_Del	DEL	ENST00000369317.4	hg19	CCDS913.1																																																																																			.	.	.	none		0.417	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
