#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
ECE1	1889	hgsc.bcm.edu	37	1	21599275	21599275	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:21599275T>C	ENST00000374893.6	-	4	484	c.410A>G	c.(409-411)aAc>aGc	p.N137S	ECE1_ENST00000436918.2_Missense_Mutation_p.N137S|ECE1_ENST00000357071.4_Missense_Mutation_p.N125S|ECE1_ENST00000264205.6_Missense_Mutation_p.N134S|ECE1_ENST00000415912.2_Missense_Mutation_p.N121S	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	137					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		AGGGACTGGGTTGGCCTTGAT	0.582																																					p.N137S		Atlas-SNP	.											.	ECE1	76	.	0			c.A410G						.						152.0	134.0	140.0					1																	21599275		2203	4300	6503	SO:0001583	missense	1889	exon4			ACTGGGTTGGCCT	D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.410A>G	chr1.hg19:g.21599275T>C	ENSP00000364028:p.Asn137Ser	139.0	0.0		151.0	53.0	NM_001397	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	hg19	CCDS215.1	.	.	.	.	.	.	.	.	.	.	T	32	5.145815	0.94603	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205;ENST00000473505;ENST00000481130	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.75	5.75	0.90469	Peptidase M13 (1);	0.093907	0.64402	D	0.000001	D	0.84584	0.5504	M	0.80508	2.5	0.80722	D	1	D;D;P;D;D	0.60575	0.975;0.988;0.458;0.986;0.986	P;P;B;P;P	0.59221	0.854;0.75;0.233;0.634;0.768	D	0.86941	0.2079	10	0.87932	D	0	-43.2995	14.8963	0.70646	0.0:0.0:0.0:1.0	.	137;121;137;125;134	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	S	121;125;137;137;134;23;123	ENSP00000405088:N121S;ENSP00000349581:N125S;ENSP00000364028:N137S;ENSP00000388439:N137S;ENSP00000264205:N134S;ENSP00000431856:N23S;ENSP00000436633:N123S	ENSP00000264205:N134S	N	-	2	0	ECE1	21471862	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.008000	0.88588	2.206000	0.71126	0.533000	0.62120	AAC	.	.		0.582	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
CLCA1	1179	hgsc.bcm.edu	37	1	86960069	86960069	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:86960069C>A	ENST00000234701.3	+	12	2231	c.1880C>A	c.(1879-1881)aCa>aAa	p.T627K	CLCA1_ENST00000394711.1_Missense_Mutation_p.T627K			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	627					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCCAGTGTCACAGCCCTGATT	0.433																																					p.T627K		Atlas-SNP	.											.	CLCA1	109	.	0			c.C1880A						.						69.0	64.0	66.0					1																	86960069		2203	4300	6503	SO:0001583	missense	1179	exon11			GTGTCACAGCCCT		CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1880C>A	chr1.hg19:g.86960069C>A	ENSP00000234701:p.Thr627Lys	138.0	0.0		226.0	106.0	NM_001285	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	hg19	CCDS709.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.171406|4.171406	0.78452|0.78452	.|.	.|.	ENSG00000016490|ENSG00000016490	ENST00000539889|ENST00000234701;ENST00000394711	.|T;T	.|0.32272	.|1.46;1.46	5.93|5.93	5.01|5.01	0.66863|0.66863	.|Domain of unknown function DUF1973 (1);	.|0.305888	.|0.32134	.|N	.|0.006538	T|T	0.45637|0.45637	0.1352|0.1352	M|M	0.73598|0.73598	2.24|2.24	0.37961|0.37961	D|D	0.932973|0.932973	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.79784	.|0.993;0.993	T|T	0.46233|0.46233	-0.9206|-0.9206	6|10	0.87932|0.72032	D|D	0|0.01	-21.8109|-21.8109	11.5342|11.5342	0.50628|0.50628	0.0:0.8637:0.0:0.1363|0.0:0.8637:0.0:0.1363	.|.	.|627;390	.|A8K7I4;B4DUZ6	.|CLCA1_HUMAN;.	Q|K	325|627	.|ENSP00000234701:T627K;ENSP00000378200:T627K	ENSP00000443173:H325Q|ENSP00000234701:T627K	H|T	+|+	3|2	2|0	CLCA1|CLCA1	86732657|86732657	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	0.704000|0.704000	0.25661|0.25661	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CAC|ACA	.	.		0.433	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285	
GSTM3	2947	hgsc.bcm.edu	37	1	110280775	110280775	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:110280775T>C	ENST00000540225.1	-	6	620	c.310A>G	c.(310-312)Ata>Gta	p.I104V	RP4-735C1.4_ENST00000431955.1_RNA|GSTM3_ENST00000488824.1_5'UTR|GSTM3_ENST00000361066.2_Missense_Mutation_p.I104V|GSTM3_ENST00000256594.3_Missense_Mutation_p.I104V			P21266	GSTM3_HUMAN	glutathione S-transferase mu 3 (brain)	104	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|establishment of blood-nerve barrier (GO:0008065)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|nitrobenzene metabolic process (GO:0018916)|response to estrogen (GO:0043627)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|skin(1)	9		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Colorectal(144;0.0339)|Lung(183;0.0426)|all cancers(265;0.113)|Epithelial(280;0.125)|COAD - Colon adenocarcinoma(174;0.134)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)|Vitamin E(DB00163)	TGGTTCTCTATGATGTCCACT	0.458																																					p.I104V		Atlas-SNP	.											.	GSTM3	21	.	0			c.A310G						.						228.0	213.0	218.0					1																	110280775		2203	4300	6503	SO:0001583	missense	2947	exon6			TCTCTATGATGTC	BC000088	CCDS812.1	1p13.3	2012-06-21	2008-11-26		ENSG00000134202	ENSG00000134202	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4635	protein-coding gene	gene with protein product		138390	"""glutathione S-transferase M3 (brain)"""			2345169	Standard	NM_000849		Approved	GST5	uc001dyo.2	P21266	OTTHUMG00000011640	ENST00000540225.1:c.310A>G	chr1.hg19:g.110280775T>C	ENSP00000444978:p.Ile104Val	99.0	0.0		159.0	58.0	NM_000849	O60550|Q96HA3	Missense_Mutation	SNP	ENST00000540225.1	hg19	CCDS812.1	.	.	.	.	.	.	.	.	.	.	T	9.089	1.001164	0.19121	.	.	ENSG00000134202	ENST00000540225;ENST00000256594;ENST00000361066	T;T;T	0.03745	3.82;3.82;3.82	5.41	1.73	0.24493	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.423243	0.31709	N	0.007190	T	0.00580	0.0019	N	0.04132	-0.27	0.23661	N	0.997173	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.48410	-0.9038	10	0.37606	T	0.19	-14.2532	6.33	0.21264	0.0:0.1622:0.1748:0.663	.	104;110;104	Q6FGJ9;Q59EJ5;P21266	.;.;GSTM3_HUMAN	V	104	ENSP00000444978:I104V;ENSP00000256594:I104V;ENSP00000354357:I104V	ENSP00000256594:I104V	I	-	1	0	GSTM3	110082298	0.231000	0.23751	0.995000	0.50966	0.611000	0.37282	-0.095000	0.11077	0.483000	0.27608	-0.400000	0.06385	ATA	.	.		0.458	GSTM3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032182.1	NM_000849	
TCHH	7062	hgsc.bcm.edu	37	1	152086518	152086518	+	Silent	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:152086518T>C	ENST00000368804.1	-	1	38	c.39A>G	c.(37-39)gaA>gaG	p.E13E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	13	S-100-like.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATTGAAAATTTCAGTGATGT	0.373																																					p.E13E		Atlas-SNP	.											.	TCHH	275	.	0			c.A39G						.						121.0	109.0	113.0					1																	152086518		1864	4099	5963	SO:0001819	synonymous_variant	7062	exon2			GAAAATTTCAGTG	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.39A>G	chr1.hg19:g.152086518T>C		72.0	0.0		145.0	58.0	NM_007113	Q5VUI3	Silent	SNP	ENST00000368804.1	hg19	CCDS41396.1																																																																																			.	.		0.373	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113	
DENND4B	9909	hgsc.bcm.edu	37	1	153907287	153907287	+	Missense_Mutation	SNP	G	G	C	rs3835302|rs199597671		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:153907287G>C	ENST00000361217.4	-	18	3140	c.2722C>G	c.(2722-2724)Cag>Gag	p.Q908E	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	908	Gln-rich.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			tcctgctgctgctgctgctgc	0.632																																					p.Q908E		Atlas-SNP	.											.	DENND4B	210	.	0			c.C2722G						.						23.0	27.0	26.0					1																	153907287		2184	4281	6465	SO:0001583	missense	9909	exon18			GCTGCTGCTGCTG	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2722C>G	chr1.hg19:g.153907287G>C	ENSP00000354597:p.Gln908Glu	21.0	0.0		120.0	8.0	NM_014856	Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	hg19	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	1.785	-0.481073	0.04383	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06294	3.33;3.32	2.67	0.673	0.17941	.	5.053470	0.00166	N	0.000001	T	0.00815	0.0027	N	0.14661	0.345	0.19300	N	0.999977	B	0.02656	0.0	B	0.04013	0.001	T	0.26573	-1.0099	10	0.02654	T	1	-2.4288	3.3651	0.07201	0.1454:0.0:0.5849:0.2697	.	908	O75064	DEN4B_HUMAN	E	908;919	ENSP00000354597:Q908E;ENSP00000357635:Q919E	ENSP00000354597:Q908E	Q	-	1	0	DENND4B	152173911	0.943000	0.32029	0.986000	0.45419	0.760000	0.43138	0.537000	0.23144	0.194000	0.20326	0.271000	0.19318	CAG	.	.		0.632	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806	
RPS27	6232	hgsc.bcm.edu	37	1	153963600	153963600	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:153963600G>A	ENST00000368567.4	+	2	54	c.16G>A	c.(16-18)Gat>Aat	p.D6N	RPS27_ENST00000493224.1_3'UTR|RPS27_ENST00000392558.4_Missense_Mutation_p.D6N	NM_001030.4	NP_001021.1	P42677	RS27_HUMAN	ribosomal protein S27	6					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|nucleus (GO:0005634)|ribosome (GO:0005840)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)|zinc ion binding (GO:0008270)			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTCGCAAAGGATCTCCTTCA	0.502																																					p.D6N		Atlas-SNP	.											.	RPS27	6	.	0			c.G16A						.						95.0	82.0	87.0					1																	153963600		2203	4298	6501	SO:0001583	missense	6232	exon2			GCAAAGGATCTCC	U57847	CCDS1059.1	1q21	2011-04-06	2008-08-29		ENSG00000177954	ENSG00000177954		"""S ribosomal proteins"""	10416	protein-coding gene	gene with protein product	"""metallopanstimulin 1"""	603702	"""ribosomal protein S27 (metallopanstimulin 1)"""			8908372, 8407955	Standard	NM_001030		Approved	MPS-1, MPS1, S27	uc001fdv.3	P42677	OTTHUMG00000036591	ENST00000368567.4:c.16G>A	chr1.hg19:g.153963600G>A	ENSP00000357555:p.Asp6Asn	41.0	0.0		119.0	17.0	NM_001030	Q5T4L6	Missense_Mutation	SNP	ENST00000368567.4	hg19	CCDS1059.1	.	.	.	.	.	.	.	.	.	.	G	36	5.779576	0.96929	.	.	ENSG00000177954	ENST00000368567;ENST00000392558	.	.	.	5.06	5.06	0.68205	.	0.000000	0.49916	D	0.000123	T	0.46014	0.1371	.	.	.	0.58432	D	0.999994	B	0.13594	0.008	B	0.16722	0.016	T	0.49523	-0.8931	8	0.72032	D	0.01	-22.5869	17.4153	0.87498	0.0:0.0:1.0:0.0	.	6	P42677	RS27_HUMAN	N	6	.	ENSP00000357555:D6N	D	+	1	0	RPS27	152230224	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.776000	0.91776	2.647000	0.89833	0.555000	0.69702	GAT	.	.		0.502	RPS27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088997.1	NM_001030	
SCAMP3	10067	hgsc.bcm.edu	37	1	155230399	155230399	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:155230399C>A	ENST00000302631.3	-	3	303	c.196G>T	c.(196-198)Gct>Tct	p.A66S	SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000497188.1_5'Flank|SCAMP3_ENST00000355379.3_Missense_Mutation_p.A40S	NM_005698.3	NP_005689.2	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	66					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|response to retinoic acid (GO:0032526)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGGAGGGAGCTGAGGGTGGA	0.567																																					p.A66S		Atlas-SNP	.											.	SCAMP3	33	.	0			c.G196T						.						127.0	131.0	130.0					1																	155230399		2203	4300	6503	SO:0001583	missense	10067	exon3			AGGGAGCTGAGGG	AF005039	CCDS1105.1, CCDS1106.1	1q21	2013-02-21			ENSG00000116521	ENSG00000116521		"""Secretory carrier membrane proteins"""	10565	protein-coding gene	gene with protein product	"""Propin 1"""	606913		C1orf3		9331372, 9658162	Standard	NM_005698		Approved		uc001fjs.3	O14828	OTTHUMG00000035874	ENST00000302631.3:c.196G>T	chr1.hg19:g.155230399C>A	ENSP00000307275:p.Ala66Ser	45.0	0.0		147.0	76.0	NM_005698	A9Z1W6|B1AVS6|O15128|Q96FR8|Q9BPY0	Missense_Mutation	SNP	ENST00000302631.3	hg19	CCDS1105.1	.	.	.	.	.	.	.	.	.	.	.	13.27	2.188080	0.38609	.	.	ENSG00000116521	ENST00000302631;ENST00000355379	T;T	0.19250	2.45;2.16	4.81	3.88	0.44766	.	0.536026	0.14838	N	0.295477	T	0.05090	0.0136	L	0.32530	0.975	0.40148	D	0.976917	B;B;P	0.35433	0.061;0.065;0.501	B;B;B	0.25140	0.045;0.017;0.058	T	0.20042	-1.0287	10	0.14252	T	0.57	-9.5133	9.2225	0.37386	0.0:0.8993:0.0:0.1007	.	66;40;66	Q6FHJ5;O14828-2;O14828	.;.;SCAM3_HUMAN	S	66;40	ENSP00000307275:A66S;ENSP00000347540:A40S	ENSP00000307275:A66S	A	-	1	0	SCAMP3	153497023	0.986000	0.35501	0.994000	0.49952	0.988000	0.76386	1.391000	0.34475	2.498000	0.84270	0.650000	0.86243	GCT	.	.		0.567	SCAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087399.1	NM_005698	
CEP350	9857	hgsc.bcm.edu	37	1	180013265	180013265	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:180013265G>T	ENST00000367607.3	+	21	4997	c.4579G>T	c.(4579-4581)Gat>Tat	p.D1527Y		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1527	Ser-rich.				microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGCTTCATATGATAGTTATTC	0.343																																					p.D1527Y		Atlas-SNP	.											.	CEP350	418	.	0			c.G4579T						.						52.0	48.0	49.0					1																	180013265		2200	4294	6494	SO:0001583	missense	9857	exon21			TCATATGATAGTT	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.4579G>T	chr1.hg19:g.180013265G>T	ENSP00000356579:p.Asp1527Tyr	60.0	0.0		150.0	63.0	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	hg19	CCDS1336.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.518966|3.518966	0.64634|0.64634	.|.	.|.	ENSG00000135837|ENSG00000135837	ENST00000367607|ENST00000418229	T|.	0.58940|.	0.3|.	5.69|5.69	4.78|4.78	0.61160|0.61160	.|.	0.150636|.	0.30193|.	N|.	0.010181|.	T|.	0.53867|.	0.1823|.	L|L	0.34521|0.34521	1.04|1.04	0.46849|0.46849	D|D	0.999224|0.999224	P;P|.	0.48503|.	0.911;0.911|.	P;P|.	0.48901|.	0.594;0.594|.	T|.	0.50074|.	-0.8870|.	9|.	.|.	.|.	.|.	.|.	12.4244|12.4244	0.55538|0.55538	0.0781:0.0:0.9219:0.0|0.0781:0.0:0.9219:0.0	.|.	1527;1527|.	E7EU22;Q5VT06|.	.;CE350_HUMAN|.	Y|L	1527|135	ENSP00000356579:D1527Y|.	.|.	D|X	+|+	1|2	0|2	CEP350|CEP350	178279888|178279888	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.597000|0.597000	0.36814|0.36814	4.612000|4.612000	0.61169|0.61169	1.418000|1.418000	0.47098|0.47098	0.555000|0.555000	0.69702|0.69702	GAT|TGA	.	.		0.343	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
PRELP	5549	hgsc.bcm.edu	37	1	203452997	203452997	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:203452997G>A	ENST00000343110.2	+	2	812	c.685G>A	c.(685-687)Gcc>Acc	p.A229T		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	229					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCAACCTGGCCCACAACAT	0.567																																					p.A229T		Atlas-SNP	.											.	PRELP	63	.	0			c.G685A						.						167.0	162.0	164.0					1																	203452997		2203	4300	6503	SO:0001583	missense	5549	exon2			AACCTGGCCCACA	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.685G>A	chr1.hg19:g.203452997G>A	ENSP00000343924:p.Ala229Thr	115.0	0.0		305.0	77.0	NM_201348	Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	hg19	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200694	0.79015	.	.	ENSG00000188783	ENST00000343110	T	0.57595	0.39	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	N	0.20574	0.59	0.52501	D	0.999959	D	0.89917	1.0	D	0.97110	1.0	T	0.65001	-0.6274	10	0.59425	D	0.04	-18.1347	16.3701	0.83353	0.0:0.0:1.0:0.0	.	229	P51888	PRELP_HUMAN	T	229	ENSP00000343924:A229T	ENSP00000343924:A229T	A	+	1	0	PRELP	201719620	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.030000	0.88816	2.214000	0.71695	0.462000	0.41574	GCC	.	.		0.567	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725	
CR2	1380	hgsc.bcm.edu	37	1	207644091	207644091	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:207644091A>G	ENST00000367058.3	+	7	1421	c.1232A>G	c.(1231-1233)cAg>cGg	p.Q411R	CR2_ENST00000458541.2_Missense_Mutation_p.Q411R|CR2_ENST00000367059.3_Missense_Mutation_p.Q411R|CR2_ENST00000367057.3_Missense_Mutation_p.Q411R	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	411	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TTAGAATGCCAGGCCCCTCCT	0.393																																					p.Q411R		Atlas-SNP	.											.	CR2	164	.	0			c.A1232G						.						84.0	81.0	82.0					1																	207644091		2203	4300	6503	SO:0001583	missense	1380	exon7			AATGCCAGGCCCC	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.1232A>G	chr1.hg19:g.207644091A>G	ENSP00000356025:p.Gln411Arg	61.0	0.0		194.0	42.0	NM_001006658	C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	hg19	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	15.81	2.944534	0.53079	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.57	2.1	0.27182	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.67776	0.2929	L	0.39514	1.22	0.26031	N	0.981749	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.80764	0.985;0.994;0.953	T	0.56171	-0.8023	9	0.38643	T	0.18	.	9.0435	0.36331	0.6389:0.3611:0.0:0.0	.	411;411;411	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	R	411	ENSP00000356025:Q411R;ENSP00000356024:Q411R;ENSP00000356026:Q411R;ENSP00000404222:Q411R	ENSP00000356024:Q411R	Q	+	2	0	CR2	205710714	0.001000	0.12720	0.233000	0.24025	0.943000	0.58893	0.053000	0.14184	0.293000	0.22520	0.533000	0.62120	CAG	.	.		0.393	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	
GPATCH2	55105	hgsc.bcm.edu	37	1	217688227	217688227	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:217688227G>A	ENST00000366935.3	-	6	1213	c.1103C>T	c.(1102-1104)cCc>cTc	p.P368L		NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	368					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		GCCAGGAATGGGTACCTACAG	0.353																																					p.P368L		Atlas-SNP	.											.	GPATCH2	53	.	0			c.C1103T						.						40.0	40.0	40.0					1																	217688227		2203	4300	6503	SO:0001583	missense	55105	exon6			GGAATGGGTACCT	AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.1103C>T	chr1.hg19:g.217688227G>A	ENSP00000355902:p.Pro368Leu	271.0	0.0		776.0	194.0	NM_018040	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	ENST00000366935.3	hg19	CCDS1518.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.872396	0.51695	.	.	ENSG00000092978	ENST00000366935	T	0.29397	1.57	5.86	4.93	0.64822	.	0.490245	0.24954	N	0.034270	T	0.18759	0.0450	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.02877	-1.1099	10	0.28530	T	0.3	.	16.9629	0.86277	0.0:0.1278:0.8722:0.0	.	368	Q9NW75	GPTC2_HUMAN	L	368	ENSP00000355902:P368L	ENSP00000355902:P368L	P	-	2	0	GPATCH2	215754850	0.998000	0.40836	0.378000	0.26068	0.611000	0.37282	1.160000	0.31761	1.455000	0.47813	0.650000	0.86243	CCC	.	.		0.353	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001272.1	NM_018040	
DNAJC27	51277	hgsc.bcm.edu	37	2	25190147	25190147	+	Nonsense_Mutation	SNP	G	G	A	rs147784881		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:25190147G>A	ENST00000264711.2	-	2	292	c.103C>T	c.(103-105)Cga>Tga	p.R35*	DNAJC27_ENST00000468467.1_5'UTR|SNORD14_ENST00000365609.1_RNA|DNAJC27_ENST00000534855.1_5'UTR	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27	35					small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)	p.R35*(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						TCACAGTATCGCTTTATAATA	0.323																																					p.R35X		Atlas-SNP	.											DNAJC27,colon,carcinoma,0,1	DNAJC27	37	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C103T						.	G	stop/ARG,stop/ARG	1,4401	2.1+/-5.4	0,1,2200	72.0	77.0	75.0		103,103	5.8	1.0	2	dbSNP_134	75	0,8600		0,0,4300	no	stop-gained,stop-gained	DNAJC27	NM_001198559.1,NM_016544.2	,	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	,	35/178,35/274	25190147	1,13001	2201	4300	6501	SO:0001587	stop_gained	51277	exon2			AGTATCGCTTTAT		CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.103C>T	chr2.hg19:g.25190147G>A	ENSP00000264711:p.Arg35*	211.0	0.0		297.0	128.0	NM_016544	Q5JV88|Q86Y24	Nonsense_Mutation	SNP	ENST00000264711.2	hg19	CCDS1716.1	.	.	.	.	.	.	.	.	.	.	G	38	6.709763	0.97780	2.27E-4	0.0	ENSG00000115137	ENST00000264711	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.8466	17.0799	0.86596	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000264711:R35X	R	-	1	2	DNAJC27	25043651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.022000	0.64078	2.885000	0.99019	0.655000	0.94253	CGA	.	G|1.000;A|0.000		0.323	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246855.3	NM_016544	
PRR30	339779	hgsc.bcm.edu	37	2	27360538	27360538	+	Silent	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:27360538C>A	ENST00000335524.3	-	3	1185	c.660G>T	c.(658-660)ggG>ggT	p.G220G	PREB_ENST00000260643.2_5'Flank	NM_178553.3	NP_848648.2	Q53SZ7	PRR30_HUMAN		220										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCGGTGCCCCAGCTGGA	0.657																																					p.G220G		Atlas-SNP	.											.	C2orf53	45	.	0			c.G660T						.						22.0	26.0	25.0					2																	27360538		2195	4290	6485	SO:0001819	synonymous_variant	339779	exon3			GCGGTGCCCCAGC																												ENST00000335524.3:c.660G>T	chr2.hg19:g.27360538C>A		76.0	0.0		126.0	57.0	NM_178553	Q86UE2	Silent	SNP	ENST00000335524.3	hg19	CCDS1739.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459492	0.26248	.	.	ENSG00000186143	ENST00000432962	.	.	.	4.67	1.43	0.22495	.	.	.	.	.	T	0.61009	0.2313	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61008	-0.7149	5	0.87932	D	0	-12.3653	6.9023	0.24288	0.2034:0.4511:0.3455:0.0	.	.	.	.	S	56	.	ENSP00000393468:A56S	A	-	1	0	C2orf53	27214042	0.997000	0.39634	0.993000	0.49108	0.746000	0.42486	0.391000	0.20784	0.520000	0.28426	0.561000	0.74099	GCA	.	.		0.657	C2orf53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250188.1		
BIRC6	57448	hgsc.bcm.edu	37	2	32695253	32695253	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:32695253C>G	ENST00000421745.2	+	31	6499	c.6365C>G	c.(6364-6366)tCc>tGc	p.S2122C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2122					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATGTTACTTTCCTGCATTGGT	0.289																																					p.S2122C	Pancreas(94;175 1509 16028 18060 45422)	Atlas-SNP	.											.	BIRC6	838	.	0			c.C6365G						.						56.0	55.0	56.0					2																	32695253		2201	4295	6496	SO:0001583	missense	57448	exon31			TACTTTCCTGCAT	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.6365C>G	chr2.hg19:g.32695253C>G	ENSP00000393596:p.Ser2122Cys	60.0	0.0		99.0	44.0	NM_016252	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	hg19	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487440	0.84854	.	.	ENSG00000115760	ENST00000421745	T	0.75367	-0.93	5.14	5.14	0.70334	.	0.139878	0.48286	D	0.000182	D	0.84070	0.5391	L	0.53249	1.67	0.58432	D	0.999999	D	0.76494	0.999	D	0.77557	0.99	D	0.85716	0.1322	10	0.87932	D	0	.	18.6592	0.91467	0.0:1.0:0.0:0.0	.	2122	Q9NR09	BIRC6_HUMAN	C	2122	ENSP00000393596:S2122C	ENSP00000393596:S2122C	S	+	2	0	BIRC6	32548757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.798000	0.85924	2.411000	0.81874	0.585000	0.79938	TCC	.	.		0.289	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
RTN4	57142	hgsc.bcm.edu	37	2	55201875	55201875	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:55201875G>A	ENST00000337526.6	-	6	3629	c.3386C>T	c.(3385-3387)aCc>aTc	p.T1129I	RTN4_ENST00000486085.1_Intron|RTN4_ENST00000357732.4_Missense_Mutation_p.T329I|RTN4_ENST00000394609.2_Missense_Mutation_p.T136I|RTN4_ENST00000394611.2_Missense_Mutation_p.T923I|RTN4_ENST00000405240.1_Missense_Mutation_p.T923I|RTN4_ENST00000404909.1_Missense_Mutation_p.T923I|RTN4_ENST00000354474.6_Missense_Mutation_p.T897I|RTN4_ENST00000317610.7_Missense_Mutation_p.T310I|RTN4_ENST00000402434.2_Missense_Mutation_p.T282I|RTN4_ENST00000357376.3_Missense_Mutation_p.T923I	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	1129	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						ACCAACATAGGTAAATACCCA	0.353																																					p.T1129I		Atlas-SNP	.											.	RTN4	189	.	0			c.C3386T						.						125.0	110.0	115.0					2																	55201875		2203	4300	6503	SO:0001583	missense	57142	exon6			ACATAGGTAAATA	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3386C>T	chr2.hg19:g.55201875G>A	ENSP00000337838:p.Thr1129Ile	226.0	0.0		359.0	154.0	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	hg19	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	G	31	5.068487	0.93950	.	.	ENSG00000115310	ENST00000394609;ENST00000405240;ENST00000357376;ENST00000337526;ENST00000317610;ENST00000357732;ENST00000394611;ENST00000404909;ENST00000402434;ENST00000354474	T;T;T;T;T;T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81;0.81	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.78477	0.4289	M	0.92412	3.305	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;0.999;1.0	T	0.81797	-0.0768	10	0.87932	D	0	-11.1752	20.8794	0.99867	0.0:0.0:1.0:0.0	.	310;329;1129;136	Q7L7Q6;Q9NQC3-5;Q9NQC3;Q7L7Q5	.;.;RTN4_HUMAN;.	I	136;923;923;1129;310;329;923;923;282;897	ENSP00000378107:T136I;ENSP00000384471:T923I;ENSP00000349944:T923I;ENSP00000337838:T1129I;ENSP00000322147:T310I;ENSP00000350365:T329I;ENSP00000378109:T923I;ENSP00000385650:T923I;ENSP00000384825:T282I;ENSP00000346465:T897I	ENSP00000322147:T310I	T	-	2	0	RTN4	55055379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.706000	0.91362	2.941000	0.99782	0.655000	0.94253	ACC	.	.		0.353	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
CD207	50489	hgsc.bcm.edu	37	2	71060902	71060902	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:71060902A>G	ENST00000410009.3	-	3	485	c.440T>C	c.(439-441)gTc>gCc	p.V147A		NM_015717.3	NP_056532	Q9UJ71	CLC4K_HUMAN	CD207 molecule, langerin	147					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)|defense response to virus (GO:0051607)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						TAAGGTACTGACTTCTTCCCA	0.453																																					p.V147A		Atlas-SNP	.											.	CD207	47	.	0			c.T440C						.						138.0	125.0	129.0					2																	71060902		1897	4129	6026	SO:0001583	missense	50489	exon3			GTACTGACTTCTT	AJ242859	CCDS74520.1	2p13	2011-08-30	2006-03-28		ENSG00000116031	ENSG00000116031		"""C-type lectin domain containing"", ""CD molecules"""	17935	protein-coding gene	gene with protein product		604862	"""CD207 antigen, langerin"""			10661407, 9847074	Standard	NM_015717		Approved	Langerin, CLEC4K	uc002shg.3	Q9UJ71	OTTHUMG00000153176	ENST00000410009.3:c.440T>C	chr2.hg19:g.71060902A>G	ENSP00000386378:p.Val147Ala	99.0	0.0		144.0	55.0	NM_015717		Missense_Mutation	SNP	ENST00000410009.3	hg19		.	.	.	.	.	.	.	.	.	.	A	7.221	0.597370	0.13875	.	.	ENSG00000116031	ENST00000410009	T	0.27256	1.68	4.23	0.553	0.17235	.	0.728978	0.12311	N	0.480149	T	0.16981	0.0408	L	0.36672	1.1	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.28138	-1.0053	10	0.25751	T	0.34	.	6.2193	0.20673	0.6873:0.0:0.3127:0.0	.	147	Q9UJ71	CLC4K_HUMAN	A	147	ENSP00000386378:V147A	ENSP00000386378:V147A	V	-	2	0	CD207	70914410	0.008000	0.16893	0.001000	0.08648	0.005000	0.04900	1.769000	0.38522	0.087000	0.17167	0.533000	0.62120	GTC	.	.		0.453	CD207-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000329959.4	NM_015717	
DNAH6	1768	hgsc.bcm.edu	37	2	84832694	84832694	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:84832694T>G	ENST00000237449.6	+	19	3160	c.3152T>G	c.(3151-3153)cTg>cGg	p.L1051R	DNAH6_ENST00000389394.3_Missense_Mutation_p.L1051R|DNAH6_ENST00000398278.2_Missense_Mutation_p.L1051R			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	1051	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						GTGTTTATACTGGGCGGCACA	0.413																																					p.L1051R		Atlas-SNP	.											.	DNAH6	194	.	0			c.T3152G						.						166.0	141.0	148.0					2																	84832694		692	1591	2283	SO:0001583	missense	1768	exon20			TTATACTGGGCGG	U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.3152T>G	chr2.hg19:g.84832694T>G	ENSP00000237449:p.Leu1051Arg	79.0	0.0		152.0	63.0	NM_001370	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	ENST00000237449.6	hg19	CCDS46348.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.645437	0.87859	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.69685	-0.42;-0.42;-0.42	5.78	5.78	0.91487	Dynein heavy chain, domain-2 (1);	.	.	.	.	D	0.87857	0.6283	H	0.96805	3.885	0.42457	D	0.992775	D	0.89917	1.0	D	0.91635	0.999	D	0.91955	0.5574	9	0.87932	D	0	.	15.103	0.72296	0.0:0.0:0.0:1.0	.	1051	Q9C0G6	DYH6_HUMAN	R	1051	ENSP00000374045:L1051R;ENSP00000381326:L1051R;ENSP00000237449:L1051R	ENSP00000237449:L1051R	L	+	2	0	DNAH6	84686205	1.000000	0.71417	0.997000	0.53966	0.974000	0.67602	6.562000	0.73960	2.205000	0.71048	0.533000	0.62120	CTG	.	.		0.413	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328537.2	NM_001370	
TMEM150A	129303	hgsc.bcm.edu	37	2	85828182	85828182	+	Silent	SNP	G	G	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:85828182G>C	ENST00000409668.1	-	3	629	c.162C>G	c.(160-162)ccC>ccG	p.P54P	TMEM150A_ENST00000334462.5_Silent_p.P54P|TMEM150A_ENST00000306353.3_Missense_Mutation_p.P24R			Q86TG1	T150A_HUMAN	transmembrane protein 150A	54					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						AGCAGGTCTTGGGACCCCCTT	0.647																																					p.P54P		Atlas-SNP	.											.	TMEM150A	15	.	0			c.C162G						.						58.0	51.0	53.0					2																	85828182		2203	4300	6503	SO:0001819	synonymous_variant	129303	exon4			GGTCTTGGGACCC	AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.162C>G	chr2.hg19:g.85828182G>C		80.0	0.0		118.0	45.0	NM_001031738	A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	hg19	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	15.24	2.774939	0.49786	.	.	ENSG00000168890	ENST00000306353;ENST00000425160	T	0.50001	0.76	5.06	2.06	0.26882	.	0.000000	0.85682	D	0.000000	T	0.33147	0.0853	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.18023	-1.0350	9	0.87932	D	0	-13.3705	4.0961	0.09991	0.2165:0.1958:0.5877:0.0	.	24	Q86TG1-2	.	R	24	ENSP00000302715:P24R	ENSP00000302715:P24R	P	-	2	0	TMEM150A	85681693	0.989000	0.36119	1.000000	0.80357	0.996000	0.88848	0.072000	0.14617	0.508000	0.28173	0.655000	0.94253	CCA	.	.		0.647	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1	NM_153342	
LRP1B	53353	hgsc.bcm.edu	37	2	141819790	141819790	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:141819790T>A	ENST00000389484.3	-	8	2037	c.1066A>T	c.(1066-1068)Atg>Ttg	p.M356L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	356					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATCCCATCCATGTCACATCTC	0.443										TSP Lung(27;0.18)																											p.M356L	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.A1066T						.						142.0	124.0	130.0					2																	141819790		2203	4300	6503	SO:0001583	missense	53353	exon8			CATCCATGTCACA	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.1066A>T	chr2.hg19:g.141819790T>A	ENSP00000374135:p.Met356Leu	58.0	0.0		88.0	33.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003795	0.35320	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.95690	-3.78	5.63	3.16	0.36331	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.048873	0.85682	N	0.000000	D	0.89649	0.6776	L	0.31371	0.925	0.31964	N	0.608031	B	0.02656	0.0	B	0.01281	0.0	T	0.83339	-0.0009	10	0.27082	T	0.32	.	7.4863	0.27435	0.2476:0.0:0.1294:0.623	.	356	Q9NZR2	LRP1B_HUMAN	L	356;294	ENSP00000374135:M356L	ENSP00000374135:M356L	M	-	1	0	LRP1B	141536260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.313000	0.51935	0.450000	0.26774	0.533000	0.62120	ATG	.	.		0.443	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TTN	7273	hgsc.bcm.edu	37	2	179477198	179477198	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:179477198T>C	ENST00000591111.1	-	216	45355	c.45131A>G	c.(45130-45132)aAc>aGc	p.N15044S	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.N7745S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.N16685S|TTN_ENST00000342992.6_Missense_Mutation_p.N14117S|TTN_ENST00000460472.2_Missense_Mutation_p.N7620S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.N7812S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15044	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAATGTAGTTGGTGATGGG	0.488																																					p.N16685S		Atlas-SNP	.											.	TTN	18412	.	0			c.A50054G						.						114.0	100.0	104.0					2																	179477198		1922	4138	6060	SO:0001583	missense	7273	exon266			ATGTAGTTGGTGA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.45131A>G	chr2.hg19:g.179477198T>C	ENSP00000465570:p.Asn15044Ser	54.0	0.0		73.0	31.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	T	11.21	1.572968	0.28092	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.71	4.56	0.56223	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50531	0.1621	L	0.41236	1.265	0.47698	D	0.999495	P;P;P;D	0.53151	0.928;0.928;0.928;0.958	P;P;P;P	0.48488	0.579;0.579;0.579;0.579	T	0.53265	-0.8463	9	0.87932	D	0	.	11.4716	0.50272	0.0:0.0701:0.0:0.9299	.	7620;7745;7812;15044	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	14117;7620;7812;7745;7620	ENSP00000343764:N14117S;ENSP00000434586:N7620S;ENSP00000340554:N7812S;ENSP00000352154:N7745S	ENSP00000340554:N7812S	N	-	2	0	TTN	179185443	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.991000	0.88244	1.006000	0.39211	0.460000	0.39030	AAC	.	.		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SLC40A1	30061	hgsc.bcm.edu	37	2	190428726	190428726	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:190428726G>T	ENST00000261024.2	-	7	1412	c.986C>A	c.(985-987)aCa>aAa	p.T329K		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	329					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			GGCGTACCCTGTGGTGATGCA	0.488																																					p.T329K		Atlas-SNP	.											.	SLC40A1	51	.	0			c.C986A						.						102.0	82.0	89.0					2																	190428726		2203	4300	6503	SO:0001583	missense	30061	exon7			TACCCTGTGGTGA	AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.986C>A	chr2.hg19:g.190428726G>T	ENSP00000261024:p.Thr329Lys	150.0	0.0		219.0	94.0	NM_014585	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Missense_Mutation	SNP	ENST00000261024.2	hg19	CCDS2299.1	.	.	.	.	.	.	.	.	.	.	G	34	5.397711	0.96009	.	.	ENSG00000138449	ENST00000261024;ENST00000544056	D	0.94966	-3.57	6.16	6.16	0.99307	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97654	0.9231	M	0.84511	2.7	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.97415	1.0005	10	0.72032	D	0.01	-25.8042	20.8598	0.99761	0.0:0.0:1.0:0.0	.	329	Q9NP59	S40A1_HUMAN	K	329;64	ENSP00000261024:T329K	ENSP00000261024:T329K	T	-	2	0	SLC40A1	190136971	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.850000	0.99511	2.937000	0.99478	0.650000	0.86243	ACA	.	.		0.488	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255916.2		
NBEAL1	65065	hgsc.bcm.edu	37	2	204078361	204078361	+	Silent	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:204078361T>C	ENST00000449802.1	+	54	8301	c.7968T>C	c.(7966-7968)gtT>gtC	p.V2656V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2656										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAGTGGGTGTTGGCAAGCCTG	0.418																																					p.V2656V		Atlas-SNP	.											.	NBEAL1	266	.	0			c.T7968C						.						145.0	132.0	136.0					2																	204078361		1894	4120	6014	SO:0001819	synonymous_variant	65065	exon54			GGGTGTTGGCAAG	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7968T>C	chr2.hg19:g.204078361T>C		97.0	0.0		136.0	65.0	NM_001114132	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Silent	SNP	ENST00000449802.1	hg19	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	T	9.355	1.066636	0.20067	.	.	ENSG00000144426	ENST00000434469	.	.	.	5.61	0.251	0.15540	.	.	.	.	.	T	0.51584	0.1683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36114	-0.9761	4	.	.	.	.	6.2477	0.20827	0.0:0.1992:0.1234:0.6774	.	.	.	.	S	184	.	.	L	+	2	0	NBEAL1	203786606	1.000000	0.71417	0.997000	0.53966	0.999000	0.98932	1.447000	0.35101	-0.180000	0.10637	0.528000	0.53228	TTG	.	.		0.418	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4		
ABCA12	26154	hgsc.bcm.edu	37	2	215854156	215854156	+	Silent	SNP	C	C	G	rs71428357	byFrequency	TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:215854156C>G	ENST00000272895.7	-	26	3945	c.3726G>C	c.(3724-3726)ccG>ccC	p.P1242P	ABCA12_ENST00000389661.4_Silent_p.P924P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1242					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CATCCTGAACCGGGGAGGTGT	0.418																																					p.P1242P	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											.	ABCA12	368	.	0			c.G3726C						.						111.0	111.0	111.0					2																	215854156		2203	4300	6503	SO:0001819	synonymous_variant	26154	exon26			CTGAACCGGGGAG	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3726G>C	chr2.hg19:g.215854156C>G		224.0	0.0		301.0	129.0	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	hg19	CCDS33372.1																																																																																			.	C|0.925;T|0.075		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
CTDSP1	58190	hgsc.bcm.edu	37	2	219268052	219268052	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr2:219268052A>T	ENST00000273062.2	+	6	905	c.569A>T	c.(568-570)aAg>aTg	p.K190M	CTDSP1_ENST00000443891.1_Missense_Mutation_p.K189M|CTDSP1_ENST00000488627.1_3'UTR|MIR26B_ENST00000362251.2_RNA	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	190	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.	Transition state stabilizer.			negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTACGTGAAGGACCTGAGC	0.617																																					p.K190M		Atlas-SNP	.											.	CTDSP1	19	.	0			c.A569T						.						66.0	74.0	71.0					2																	219268052		2203	4300	6503	SO:0001583	missense	58190	exon6			ACGTGAAGGACCT	AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.569A>T	chr2.hg19:g.219268052A>T	ENSP00000273062:p.Lys190Met	69.0	0.0		96.0	43.0	NM_021198	C9IYG0|Q7Z5Q3|Q7Z5Q4	Missense_Mutation	SNP	ENST00000273062.2	hg19	CCDS2416.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.4|20.4	3.986744|3.986744	0.74589|0.74589	.|.	.|.	ENSG00000144579|ENSG00000144579	ENST00000443891;ENST00000273062|ENST00000452977;ENST00000428361	T;T|.	0.51574|.	0.7;0.7|.	4.64|4.64	4.64|4.64	0.57946|0.57946	NLI interacting factor (3);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.91818|0.91818	0.7411|0.7411	H|H	0.99961|0.99961	5.07|5.07	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.94799|0.94799	0.7969|0.7969	10|5	0.87932|.	D|.	0|.	-27.7969|-27.7969	13.051|13.051	0.58954|0.58954	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	190;189|.	Q9GZU7;C9IYG0|.	CTDS1_HUMAN;.|.	M|W	189;190|183;191	ENSP00000392248:K189M;ENSP00000273062:K190M|.	ENSP00000273062:K190M|.	K|R	+|+	2|1	0|2	CTDSP1|CTDSP1	218976296|218976296	1.000000|1.000000	0.71417|0.71417	0.866000|0.866000	0.34008|0.34008	0.725000|0.725000	0.41563|0.41563	9.273000|9.273000	0.95719|0.95719	1.724000|1.724000	0.51502|0.51502	0.402000|0.402000	0.26972|0.26972	AAG|AGG	.	.		0.617	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256774.1	NM_182642, NM_021198	
KIF15	56992	hgsc.bcm.edu	37	3	44869717	44869717	+	Silent	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:44869717A>G	ENST00000326047.4	+	24	3017	c.2868A>G	c.(2866-2868)gtA>gtG	p.V956V	KIF15_ENST00000425755.1_Silent_p.V591V	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	956					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TGGCAAAAGTACAGAAACTAG	0.343																																					p.V956V		Atlas-SNP	.											.	KIF15	103	.	0			c.A2868G						.						68.0	68.0	68.0					3																	44869717		2203	4300	6503	SO:0001819	synonymous_variant	56992	exon24			AAAAGTACAGAAA	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.2868A>G	chr3.hg19:g.44869717A>G		85.0	0.0		95.0	49.0	NM_020242	Q17RV9|Q69YL6|Q96JX7|Q9H280	Silent	SNP	ENST00000326047.4	hg19	CCDS33744.1																																																																																			.	.		0.343	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2		
COL7A1	1294	hgsc.bcm.edu	37	3	48614152	48614152	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:48614152T>A	ENST00000328333.8	-	67	5764	c.5657A>T	c.(5656-5658)cAg>cTg	p.Q1886L	COL7A1_ENST00000454817.1_Intron|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1886	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGGAGGCCCCTGGGGTCCAAG	0.597																																					p.Q1886L		Atlas-SNP	.											.	COL7A1	320	.	0			c.A5657T	GRCh37	CD993040	COL7A1	D		.						17.0	19.0	19.0					3																	48614152		2203	4299	6502	SO:0001583	missense	1294	exon67			GGCCCCTGGGGTC	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.5657A>T	chr3.hg19:g.48614152T>A	ENSP00000332371:p.Gln1886Leu	73.0	0.0		101.0	41.0	NM_000094	Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	hg19	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.377792	0.24944	.	.	ENSG00000114270	ENST00000328333	D	0.95788	-3.81	5.93	4.77	0.60923	.	0.157646	0.29609	N	0.011680	D	0.96433	0.8836	M	0.64567	1.98	0.80722	D	1	D	0.53151	0.958	D	0.66602	0.945	D	0.94720	0.7900	10	0.28530	T	0.3	.	11.9081	0.52723	0.0:0.0:0.4426:0.5574	.	1886	Q02388	CO7A1_HUMAN	L	1886	ENSP00000332371:Q1886L	ENSP00000332371:Q1886L	Q	-	2	0	COL7A1	48589156	1.000000	0.71417	0.995000	0.50966	0.516000	0.34256	1.093000	0.30939	1.053000	0.40415	0.533000	0.62120	CAG	.	.		0.597	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094	
CELSR3	1951	hgsc.bcm.edu	37	3	48683636	48683636	+	Silent	SNP	G	G	A	rs375748006		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:48683636G>A	ENST00000164024.4	-	22	7630	c.7350C>T	c.(7348-7350)caC>caT	p.H2450H	MIR4793_ENST00000577502.1_RNA|CELSR3_ENST00000544264.1_Silent_p.H2455H	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2450					axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGTTGCGTCCGTGGAACACAG	0.602																																					p.H2450H		Atlas-SNP	.											.	CELSR3	237	.	0			c.C7350T						.			2,4400	4.2+/-10.8	0,2,2199	49.0	48.0	49.0		7350	-4.5	1.0	3		49	0,8598		0,0,4299	no	coding-synonymous	CELSR3	NM_001407.2		0,2,6498	AA,AG,GG		0.0,0.0454,0.0154		2450/3313	48683636	2,12998	2201	4299	6500	SO:0001819	synonymous_variant	1951	exon22			GCGTCCGTGGAAC	AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.7350C>T	chr3.hg19:g.48683636G>A		109.0	0.0		133.0	59.0	NM_001407	O75092	Silent	SNP	ENST00000164024.4	hg19	CCDS2775.1																																																																																			.	.		0.602	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1	NM_001407	
LRIG1	26018	hgsc.bcm.edu	37	3	66434613	66434613	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:66434613G>A	ENST00000273261.3	-	14	2397	c.1873C>T	c.(1873-1875)Cac>Tac	p.H625Y	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.H649Y|SLC25A26_ENST00000536651.1_Intron	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	625	Ig-like C2-type 2.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GGGTTTGGGTGACCTGTGGCA	0.562																																					p.H625Y		Atlas-SNP	.											.	LRIG1	138	.	0			c.C1873T						.						166.0	159.0	161.0					3																	66434613		2203	4300	6503	SO:0001583	missense	26018	exon14			TTGGGTGACCTGT	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1873C>T	chr3.hg19:g.66434613G>A	ENSP00000273261:p.His625Tyr	156.0	0.0		210.0	99.0	NM_015541	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	hg19	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443981	0.83993	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.66815	-0.23;-0.23	6.17	6.17	0.99709	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.65831	0.2729	N	0.05199	-0.095	0.80722	D	1	P;P;P	0.46952	0.863;0.786;0.887	P;P;P	0.57548	0.729;0.771;0.823	T	0.72161	-0.4374	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	649;625;625	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	Y	625;649;528	ENSP00000273261:H625Y;ENSP00000373208:H649Y	ENSP00000273261:H625Y	H	-	1	0	LRIG1	66517303	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	5.744000	0.68664	2.941000	0.99782	0.655000	0.94253	CAC	.	.		0.562	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
GPR128	84873	hgsc.bcm.edu	37	3	100387946	100387946	+	Silent	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:100387946A>G	ENST00000273352.3	+	15	2401	c.2133A>G	c.(2131-2133)acA>acG	p.T711T	GPR128_ENST00000475887.1_Silent_p.T416T|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	711					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TCAACACTACACAGGTATGGT	0.373																																					p.T711T	Pancreas(87;185 1975 7223 18722)	Atlas-SNP	.											.	GPR128	126	.	0			c.A2133G						.						101.0	88.0	93.0					3																	100387946		2203	4300	6503	SO:0001819	synonymous_variant	84873	exon15			CACTACACAGGTA	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2133A>G	chr3.hg19:g.100387946A>G		120.0	0.0		192.0	68.0	NM_032787	Q14D94|Q86SQ2	Silent	SNP	ENST00000273352.3	hg19	CCDS2938.1																																																																																			.	.		0.373	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1		
PLXND1	23129	hgsc.bcm.edu	37	3	129288753	129288753	+	Silent	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:129288753C>T	ENST00000324093.4	-	20	3976	c.3798G>A	c.(3796-3798)ggG>ggA	p.G1266G	PLXND1_ENST00000393239.1_Silent_p.G1266G	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1266					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TCTCGCTGCCCCCCAGCTGCA	0.592																																					p.G1266G	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.G3798A						.						91.0	77.0	82.0					3																	129288753		2203	4300	6503	SO:0001819	synonymous_variant	23129	exon20			GCTGCCCCCCAGC	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3798G>A	chr3.hg19:g.129288753C>T		47.0	0.0		38.0	7.0	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	hg19	CCDS33854.1																																																																																			.	.		0.592	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
ATR	545	hgsc.bcm.edu	37	3	142188365	142188365	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:142188365T>C	ENST00000350721.4	-	38	6487	c.6366A>G	c.(6364-6366)atA>atG	p.I2122M	RP11-383G6.3_ENST00000460977.1_RNA|ATR_ENST00000383101.3_Missense_Mutation_p.I2058M	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2122	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TAACCTTGTTTATTTTACCCA	0.348								Other conserved DNA damage response genes																													p.I2122M		Atlas-SNP	.											.	ATR	285	.	0			c.A6366G						.						143.0	152.0	149.0					3																	142188365		2202	4300	6502	SO:0001583	missense	545	exon38			CTTGTTTATTTTA	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.6366A>G	chr3.hg19:g.142188365T>C	ENSP00000343741:p.Ile2122Met	137.0	0.0		243.0	109.0	NM_001184	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	hg19	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.694359	0.30052	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.05199	3.48;3.93	5.15	3.98	0.46160	PIK-related kinase (1);	0.094484	0.64402	D	0.000001	T	0.04952	0.0133	L	0.28694	0.88	0.58432	D	0.999998	P	0.39665	0.682	B	0.38562	0.276	T	0.52997	-0.8500	10	0.22706	T	0.39	-13.4247	7.3538	0.26706	0.0:0.0762:0.1444:0.7794	.	2122	Q13535	ATR_HUMAN	M	2122;2058	ENSP00000343741:I2122M;ENSP00000372581:I2058M	ENSP00000343741:I2122M	I	-	3	3	ATR	143671055	1.000000	0.71417	0.997000	0.53966	0.960000	0.62799	3.192000	0.50989	0.791000	0.33826	0.482000	0.46254	ATA	.	.		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
P2RY14	9934	hgsc.bcm.edu	37	3	150932059	150932059	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:150932059G>T	ENST00000309170.3	-	3	358	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.Q16K	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	16					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGGAGGTTCTGAGAGCAGGAT	0.453																																					p.Q16K		Atlas-SNP	.											.	P2RY14	50	.	0			c.C46A						.						167.0	162.0	164.0					3																	150932059		2203	4300	6503	SO:0001583	missense	9934	exon3			GGTTCTGAGAGCA	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.46C>A	chr3.hg19:g.150932059G>T	ENSP00000308361:p.Gln16Lys	52.0	0.0		69.0	21.0	NM_014879	Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	hg19	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	G	9.943	1.218083	0.22373	.	.	ENSG00000174944	ENST00000309170;ENST00000424796;ENST00000494668	T;T;T	0.19938	2.11;2.11;2.11	5.71	-11.4	0.00090	.	3.857980	0.00508	N	0.000163	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25502	-1.0130	10	0.05959	T	0.93	1.5069	2.2686	0.04085	0.2461:0.1072:0.1839:0.4628	.	16	Q15391	P2Y14_HUMAN	K	16	ENSP00000308361:Q16K;ENSP00000408733:Q16K;ENSP00000418065:Q16K	ENSP00000308361:Q16K	Q	-	1	0	P2RY14	152414749	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.876000	0.01633	-2.623000	0.00438	-1.491000	0.00971	CAG	.	.		0.453	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879	
ECT2	1894	hgsc.bcm.edu	37	3	172499968	172499968	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:172499968C>G	ENST00000392692.3	+	15	1740	c.1564C>G	c.(1564-1566)Ctt>Gtt	p.L522V	ECT2_ENST00000427830.1_Missense_Mutation_p.L491V|ECT2_ENST00000441497.2_Missense_Mutation_p.L491V|ECT2_ENST00000540509.1_Missense_Mutation_p.L522V|ECT2_ENST00000232458.5_Missense_Mutation_p.L491V|ECT2_ENST00000417960.1_Missense_Mutation_p.L490V	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	522	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCTTGAAGACCTTATAGTTAA	0.279																																					p.L522V		Atlas-SNP	.											.	ECT2	79	.	0			c.C1564G						.						100.0	100.0	100.0					3																	172499968		2203	4299	6502	SO:0001583	missense	1894	exon15			GAAGACCTTATAG	AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1564C>G	chr3.hg19:g.172499968C>G	ENSP00000376457:p.Leu522Val	65.0	0.0		113.0	5.0	NM_001258315	Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Missense_Mutation	SNP	ENST00000392692.3	hg19	CCDS58860.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338418	0.81911	.	.	ENSG00000114346	ENST00000232458;ENST00000392692;ENST00000427830;ENST00000417960;ENST00000441497;ENST00000540509	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	5.86	5.86	0.93980	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.40909	0.1136	L	0.35723	1.085	0.80722	D	1	P;D;P;B	0.58970	0.872;0.984;0.508;0.34	P;P;B;B	0.53549	0.593;0.729;0.343;0.343	T	0.02352	-1.1172	10	0.41790	T	0.15	-23.066	20.1581	0.98126	0.0:1.0:0.0:0.0	.	522;522;491;490	Q9H8V3;Q9H8V3-3;G5E9L8;Q9H8V3-2	ECT2_HUMAN;.;.;.	V	491;522;491;490;491;522	ENSP00000232458:L491V;ENSP00000376457:L522V;ENSP00000401910:L491V;ENSP00000415876:L490V;ENSP00000412259:L491V;ENSP00000443160:L522V	ENSP00000232458:L491V	L	+	1	0	ECT2	173982662	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.736000	0.62059	2.937000	0.99478	0.650000	0.86243	CTT	.	.		0.279	ECT2-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345994.2	NM_018098	
CCDC39	339829	hgsc.bcm.edu	37	3	180379687	180379687	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:180379687C>T	ENST00000442201.2	-	3	438	c.319G>A	c.(319-321)Gag>Aag	p.E107K	CCDC39_ENST00000273654.4_Missense_Mutation_p.E191K	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	107					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GAAGCCATCTCATTTTCCAGC	0.373																																					p.E107K		Atlas-SNP	.											.	CCDC39	242	.	0			c.G319A						.						83.0	75.0	77.0					3																	180379687		1829	4083	5912	SO:0001583	missense	339829	exon3			CCATCTCATTTTC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.319G>A	chr3.hg19:g.180379687C>T	ENSP00000405708:p.Glu107Lys	179.0	0.0		259.0	100.0	NM_181426	B4E2H1	Missense_Mutation	SNP	ENST00000442201.2	hg19	CCDS46964.1	.	.	.	.	.	.	.	.	.	.	C	16.99	3.272905	0.59649	.	.	ENSG00000145075	ENST00000273654;ENST00000442201;ENST00000471307	T	0.81163	-1.46	5.38	5.38	0.77491	.	0.093711	0.64402	D	0.000001	D	0.84556	0.5498	M	0.81802	2.56	0.45676	D	0.998597	P	0.43024	0.798	B	0.43123	0.409	D	0.87157	0.2212	10	0.72032	D	0.01	-22.3511	19.1199	0.93358	0.0:1.0:0.0:0.0	.	107	Q9UFE4	CCD39_HUMAN	K	191;107;89	ENSP00000418702:E89K	ENSP00000273654:E191K	E	-	1	0	CCDC39	181862381	1.000000	0.71417	1.000000	0.80357	0.155000	0.21991	3.002000	0.49496	2.502000	0.84385	0.655000	0.94253	GAG	.	.		0.373	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028	
MUC4	4585	hgsc.bcm.edu	37	3	195506646	195506646	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr3:195506646G>T	ENST00000463781.3	-	2	12264	c.11805C>A	c.(11803-11805)acC>acA	p.T3935T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T3935T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CAGGAAGAGGGGTGGCATGTC	0.587																																					p.T3935T		Atlas-SNP	.											.	MUC4	1505	.	0			c.C11805A						.						19.0	18.0	18.0					3																	195506646		531	1167	1698	SO:0001819	synonymous_variant	4585	exon2			AAGAGGGGTGGCA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.11805C>A	chr3.hg19:g.195506646G>T		136.0	0.0		206.0	9.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	hg19	CCDS54700.1																																																																																			.	.		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
PDGFRA	5156	hgsc.bcm.edu	37	4	55156601	55156602	+	Missense_Mutation	DNP	AG	AG	TT	rs373642812		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A|G	A|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr4:55156601_55156602AG>TT	ENST00000257290.5	+	22	3333_3334	c.3002_3003AG>TT	c.(3001-3003)aAG>aTT	p.K1001I	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K761I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1001					adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GACAAGCTGAAGGACTGGGAGG	0.545			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											p.K1001M|p.K1001N	Pancreas(151;208 1913 7310 23853 37092)	Atlas-SNP	.		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	.	PDGFRA	1583	.	0			c.A3002T|c.G3003T						.																																			SO:0001583	missense	5156	exon22	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	AGCTGAAGGACTG|GCTGAAGGACTGG	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	Exception_encountered	chr4.hg19:g.55156601_55156602delinsTT	ENSP00000257290:p.Lys1001Ile	154.0	0.0		93.0|95.0	60.0|62.0	NM_006206	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	hg19	CCDS3495.1																																																																																			.	.		0.545	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206	
CLGN	1047	hgsc.bcm.edu	37	4	141334243	141334243	+	Splice_Site	SNP	T	T	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr4:141334243T>A	ENST00000325617.5	-	2	432		c.e2-2		CLGN_ENST00000414773.1_Splice_Site|CLGN_ENST00000537281.1_Splice_Site	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin						binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					ATTGATTATCTGTGAAATTAA	0.289																																					.		Atlas-SNP	.											.	CLGN	76	.	0			.						.						40.0	41.0	41.0					4																	141334243		2203	4298	6501	SO:0001630	splice_region_variant	1047	.			ATTATCTGTGAAA	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.9-2A>T	chr4.hg19:g.141334243T>A		322.0	0.0		239.0	101.0	.	B3KS90|B4DXV8|D3DNY8	Splice_Site	SNP	ENST00000325617.5	hg19	CCDS3751.1																																																																																			.	.		0.289	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	Intron
INPP4B	8821	hgsc.bcm.edu	37	4	143067061	143067061	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr4:143067061C>G	ENST00000513000.1	-	19	2085	c.1652G>C	c.(1651-1653)gGc>gCc	p.G551A	INPP4B_ENST00000262992.4_Missense_Mutation_p.G551A|INPP4B_ENST00000308502.4_Missense_Mutation_p.G551A|INPP4B_ENST00000509777.1_Missense_Mutation_p.G551A|INPP4B_ENST00000508116.1_Missense_Mutation_p.G551A	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	551					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GCCGCCACTGCCTTCACTGCC	0.443																																					p.G551A		Atlas-SNP	.											.	INPP4B	132	.	0			c.G1652C						.						201.0	167.0	179.0					4																	143067061		2203	4300	6503	SO:0001583	missense	8821	exon19			CCACTGCCTTCAC	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.1652G>C	chr4.hg19:g.143067061C>G	ENSP00000425487:p.Gly551Ala	123.0	0.0		110.0	83.0	NM_003866	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	hg19	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	C	0.024	-1.390171	0.01185	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000543161;ENST00000508116;ENST00000509777;ENST00000511838;ENST00000542702;ENST00000510812;ENST00000514525	T;T;T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55;1.55;1.55	5.48	1.77	0.24775	.	0.330559	0.21414	N	0.074933	T	0.16514	0.0397	L	0.38175	1.15	0.09310	N	1	B;B	0.33940	0.001;0.433	B;B	0.35182	0.003;0.197	T	0.12967	-1.0527	10	0.08837	T	0.75	.	1.568	0.02608	0.1189:0.3909:0.1777:0.3126	.	422;551	B7Z6T2;O15327	.;INP4B_HUMAN	A	551;551;551;422;551;551;366;366;551;422	ENSP00000425487:G551A;ENSP00000262992:G551A;ENSP00000308441:G551A;ENSP00000423954:G551A;ENSP00000422793:G551A;ENSP00000426207:G366A;ENSP00000427250:G551A;ENSP00000421065:G422A	ENSP00000262992:G551A	G	-	2	0	INPP4B	143286511	0.000000	0.05858	0.002000	0.10522	0.247000	0.25773	0.119000	0.15626	0.287000	0.22375	0.650000	0.86243	GGC	.	.		0.443	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866	
FAM105A	54491	hgsc.bcm.edu	37	5	14582020	14582020	+	Missense_Mutation	SNP	G	G	A	rs375610503	byFrequency	TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr5:14582020G>A	ENST00000274217.3	+	1	137	c.17G>A	c.(16-18)aGc>aAc	p.S6N		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	6										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					GCGACAAGGAGCCCCACGCGG	0.806													G|||	32	0.00638978	0.0	0.0	5008	,	,		5116	0.0308		0.0	False		,,,				2504	0.001				p.S6N		Atlas-SNP	.											.	FAM105A	32	.	0			c.G17A						.						1.0	1.0	1.0					5																	14582020		417	1078	1495	SO:0001583	missense	54491	exon1			CAAGGAGCCCCAC		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.17G>A	chr5.hg19:g.14582020G>A	ENSP00000274217:p.Ser6Asn	0.0	0.0		6.0	6.0	NM_019018	Q53H50|Q9H037	Missense_Mutation	SNP	ENST00000274217.3	hg19	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.412692	0.25465	.	.	ENSG00000145569	ENST00000274217	T	0.18502	2.21	2.78	2.78	0.32641	.	2.107840	0.02975	U	0.144806	T	0.16300	0.0392	N	0.24115	0.695	0.24488	N	0.994317	B	0.24092	0.097	B	0.29598	0.104	T	0.24728	-1.0152	10	0.87932	D	0	-2.561	9.22	0.37370	0.0:0.0:1.0:0.0	.	6	Q9NUU6	F105A_HUMAN	N	6	ENSP00000274217:S6N	ENSP00000274217:S6N	S	+	2	0	FAM105A	14635020	0.377000	0.25106	0.613000	0.29037	0.044000	0.14063	2.711000	0.47177	1.867000	0.54127	0.491000	0.48974	AGC	.	.		0.806	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018	
MYO10	4651	hgsc.bcm.edu	37	5	16766245	16766246	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr5:16766245_16766246GG>TT	ENST00000513610.1	-	11	1576_1577	c.1122_1123CC>AA	c.(1120-1125)acCCag>acAAag	p.Q375K		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	375	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATTGATCTCTGGGTCAAAGCAT	0.51																																					p.Q375K|p.T374T		Atlas-SNP	.											.	MYO10	198	.	0			c.C1123A|c.C1122A						.																																			SO:0001583	missense	4651	exon11			ATCTCTGGGTCAA|TCTCTGGGTCAAA	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1122_1123delinsTT	chr5.hg19:g.16766245_16766246delinsTT	ENSP00000421280:p.Gln375Lys	120.0	0.0		203.0	58.0	NM_012334	A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation|Silent	SNP	ENST00000513610.1	hg19	CCDS54834.1																																																																																			.	.		0.510	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334	
PRKAA1	5562	hgsc.bcm.edu	37	5	40764913	40764913	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr5:40764913G>C	ENST00000397128.2	-	7	1257	c.1249C>G	c.(1249-1251)Cca>Gca	p.P417A	PRKAA1_ENST00000354209.3_Missense_Mutation_p.P432A	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	417					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to glucose starvation (GO:0042149)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|cold acclimation (GO:0009631)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|fatty acid oxidation (GO:0019395)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glucose import in response to insulin stimulus (GO:2001274)|negative regulation of glucosylceramide biosynthetic process (GO:0046318)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of gene expression (GO:0010628)|positive regulation of glycolytic process (GO:0045821)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of transcription, DNA-templated (GO:0006355)|regulation of vesicle-mediated transport (GO:0060627)|response to activity (GO:0014823)|response to caffeine (GO:0031000)|response to camptothecin (GO:1901563)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	AMP-activated protein kinase complex (GO:0031588)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|tau-protein kinase activity (GO:0050321)			breast(1)	1					Acetylsalicylic acid(DB00945)|Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	ATATCATTTGGTCGACTTTGA	0.348																																					p.P432A		Atlas-SNP	.											.	PRKAA1	27	.	0			c.C1294G						.						119.0	105.0	109.0					5																	40764913		1857	4114	5971	SO:0001583	missense	5562	exon8			CATTTGGTCGACT		CCDS3932.2, CCDS3933.2	5p13.1	2012-10-03			ENSG00000132356	ENSG00000132356			9376	protein-coding gene	gene with protein product	"""AMPK, alpha, 1"""	602739				8557660	Standard	XM_006714481		Approved	AMPKa1	uc003jmb.3	Q13131	OTTHUMG00000162269	ENST00000397128.2:c.1249C>G	chr5.hg19:g.40764913G>C	ENSP00000380317:p.Pro417Ala	104.0	0.0		208.0	125.0	NM_206907	A8MTQ6|B2R7E1|O00286|Q5D0E1|Q86VS1|Q9UNQ4	Missense_Mutation	SNP	ENST00000397128.2	hg19	CCDS3932.2	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033899	0.54896	.	.	ENSG00000132356	ENST00000397128;ENST00000354209	D;D	0.86497	-1.99;-2.13	6.01	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.90126	0.6915	M	0.91717	3.235	0.80722	D	1	B;B	0.21520	0.034;0.057	B;B	0.24006	0.022;0.05	D	0.88618	0.3161	10	0.62326	D	0.03	-13.6234	15.6824	0.77381	0.0664:0.0:0.9336:0.0	.	417;432	Q13131;Q13131-2	AAPK1_HUMAN;.	A	417;432	ENSP00000380317:P417A;ENSP00000346148:P432A	ENSP00000346148:P432A	P	-	1	0	AC008810.1	40800670	1.000000	0.71417	0.955000	0.39395	0.989000	0.77384	7.642000	0.83385	2.861000	0.98227	0.650000	0.86243	CCA	.	.		0.348	PRKAA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253833.2	NM_006251	
ANKHD1	54882	hgsc.bcm.edu	37	5	139828827	139828827	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr5:139828827A>T	ENST00000360839.2	+	7	1333	c.1179A>T	c.(1177-1179)gaA>gaT	p.E393D	ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E393D|ANKHD1_ENST00000394723.3_Missense_Mutation_p.E393D|ANKHD1_ENST00000394722.3_Missense_Mutation_p.E382D|ANKHD1_ENST00000297183.6_Missense_Mutation_p.E393D	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	393						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTACTTGAAGCTGGTGCAG	0.348																																					p.E393D		Atlas-SNP	.											.	ANKHD1	233	.	0			c.A1179T						.						78.0	67.0	71.0					5																	139828827		2203	4300	6503	SO:0001583	missense	54882	exon7			ACTTGAAGCTGGT	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.1179A>T	chr5.hg19:g.139828827A>T	ENSP00000354085:p.Glu393Asp	311.0	0.0		692.0	198.0	NM_024668	A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	hg19	CCDS4225.1	.	.	.	.	.	.	.	.	.	.	A	17.01	3.278596	0.59758	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000421134;ENST00000394723;ENST00000394722;ENST00000532219	T;T;T;T;T;T	0.15372	2.44;2.44;2.43;2.43;2.43;2.44	5.97	0.575	0.17374	Ankyrin repeat-containing domain (3);	0.118251	0.56097	N	0.000029	T	0.13457	0.0326	L	0.47716	1.5	0.54753	D	0.999982	B;B;B;B;B	0.16166	0.003;0.001;0.003;0.013;0.016	B;B;B;B;B	0.23852	0.02;0.005;0.009;0.03;0.049	T	0.08743	-1.0707	10	0.33940	T	0.23	.	6.9475	0.24526	0.5081:0.0:0.0714:0.4205	.	393;393;393;382;393	Q8IWZ3-5;Q8IWZ2;Q8IWZ3;Q8IWZ3-3;Q8IWZ3-2	.;.;ANKH1_HUMAN;.;.	D	393;407;393;393;393;393;382;393	ENSP00000354085:E393D;ENSP00000297183:E393D;ENSP00000394489:E393D;ENSP00000378212:E393D;ENSP00000378211:E382D;ENSP00000432016:E393D	ENSP00000432016:E393D	E	+	3	2	ANKHD1-EIF4EBP3;ANKHD1	139809011	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.895000	0.28363	0.125000	0.18397	-0.480000	0.04831	GAA	.	.		0.348	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747	
PCDHAC1	56135	hgsc.bcm.edu	37	5	140308283	140308283	+	Silent	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr5:140308283G>A	ENST00000253807.2	+	1	1806	c.1806G>A	c.(1804-1806)cgG>cgA	p.R602R	PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000409700.3_Silent_p.R602R|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	602	Cadherin 6. {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)			ACATCTCCCGGGCGTCTGACT	0.522																																					p.R602R		Atlas-SNP	.											.	PCDHAC1	141	.	0			c.G1806A						.						81.0	84.0	83.0					5																	140308283		2203	4300	6503	SO:0001819	synonymous_variant	56135	exon1			CTCCCGGGCGTCT	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.1806G>A	chr5.hg19:g.140308283G>A		61.0	0.0		151.0	44.0	NM_031882	Q9Y5F5|Q9Y5I5	Silent	SNP	ENST00000253807.2	hg19	CCDS4241.1																																																																																			.	.		0.522	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898	
NMUR2	56923	hgsc.bcm.edu	37	5	151784217	151784217	+	Missense_Mutation	SNP	C	C	T	rs370782921		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr5:151784217C>T	ENST00000255262.3	-	1	623	c.458G>A	c.(457-459)cGc>cAc	p.R153H	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	153					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGTTTGGCGCGGAACGGGTG	0.637																																					p.R153H		Atlas-SNP	.											NMUR2,NS,carcinoma,0,1	NMUR2	111	.	0			c.G458A						.						47.0	53.0	51.0					5																	151784217		2203	4300	6503	SO:0001583	missense	56923	exon1			TTGGCGCGGAACG	AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.458G>A	chr5.hg19:g.151784217C>T	ENSP00000255262:p.Arg153His	78.0	0.0		159.0	37.0	NM_020167	Q7LC54|Q96AM5|Q9NRA6	Missense_Mutation	SNP	ENST00000255262.3	hg19	CCDS4321.1	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072172	0.55646	.	.	ENSG00000132911	ENST00000255262	T	0.39406	1.08	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.170414	0.42548	D	0.000689	T	0.58192	0.2105	M	0.62723	1.935	0.44330	D	0.997219	D	0.89917	1.0	D	0.68353	0.957	T	0.57883	-0.7734	10	0.48119	T	0.1	-15.3605	11.5244	0.50571	0.0:0.9184:0.0:0.0816	.	153	Q9GZQ4	NMUR2_HUMAN	H	153	ENSP00000255262:R153H	ENSP00000255262:R153H	R	-	2	0	NMUR2	151764410	0.070000	0.21116	0.918000	0.36340	0.403000	0.30841	0.584000	0.23864	2.502000	0.84385	0.591000	0.81541	CGC	.	.		0.637	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
GRM4	2914	hgsc.bcm.edu	37	6	34003690	34003690	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr6:34003690G>A	ENST00000538487.2	-	9	2640	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	GRM4_ENST00000544773.2_Missense_Mutation_p.R564W|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000535756.1_Missense_Mutation_p.R600W|GRM4_ENST00000609222.1_Missense_Mutation_p.R600W|GRM4_ENST00000374177.3_Missense_Mutation_p.R617W|GRM4_ENST00000374181.4_Missense_Mutation_p.R733W|GRM4_ENST00000455714.2_Missense_Mutation_p.R593W	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	733					activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						TCGAGTGTCCGCTGGTCCTGG	0.622																																					p.R733W		Atlas-SNP	.											GRM4_ENST00000374181,NS,carcinoma,0,6	GRM4	317	.	0			c.C2197T						.						87.0	84.0	85.0					6																	34003690		2203	4300	6503	SO:0001583	missense	2914	exon9			GTGTCCGCTGGTC	U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.2197C>T	chr6.hg19:g.34003690G>A	ENSP00000440556:p.Arg733Trp	72.0	0.0		127.0	43.0	NM_000841	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	ENST00000538487.2	hg19	CCDS4787.1	.	.	.	.	.	.	.	.	.	.	G	18.87	3.714681	0.68730	.	.	ENSG00000124493	ENST00000374181;ENST00000374177;ENST00000545715;ENST00000535756;ENST00000544773;ENST00000538487;ENST00000455714	D;D;D;D;D;D;D	0.88896	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44;-2.44	4.47	4.47	0.54385	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.93864	0.8037	M	0.80183	2.485	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.967;0.967;0.997;0.983;0.978	D	0.94717	0.7897	10	0.87932	D	0	.	17.3286	0.87257	0.0:0.0:1.0:0.0	.	686;564;593;733;600	B7ZLU9;B7Z1T9;F5GXM5;Q14833;B3KVL9	.;.;.;GRM4_HUMAN;.	W	733;617;425;600;564;733;593	ENSP00000363296:R733W;ENSP00000363292:R617W;ENSP00000445533:R425W;ENSP00000437925:R600W;ENSP00000437730:R564W;ENSP00000440556:R733W;ENSP00000398456:R593W	ENSP00000363292:R617W	R	-	1	2	GRM4	34111668	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	5.166000	0.64965	2.303000	0.77524	0.455000	0.32223	CGG	.	.		0.622	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040213.2		
MMS22L	253714	hgsc.bcm.edu	37	6	97613250	97613250	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr6:97613250A>C	ENST00000275053.4	-	21	3358	c.3093T>G	c.(3091-3093)atT>atG	p.I1031M	MMS22L_ENST00000369251.2_Missense_Mutation_p.I991M	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1031					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAAATCGCCCAATATACTGCT	0.398																																					p.I1031M		Atlas-SNP	.											.	MMS22L	102	.	0			c.T3093G						.						117.0	108.0	111.0					6																	97613250		2203	4300	6503	SO:0001583	missense	253714	exon21			TCGCCCAATATAC		CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3093T>G	chr6.hg19:g.97613250A>C	ENSP00000275053:p.Ile1031Met	90.0	0.0		124.0	66.0	NM_198468	D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	ENST00000275053.4	hg19	CCDS5039.1	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569039	0.65765	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.35789	3.48;1.29	5.79	-1.21	0.09524	.	0.166971	0.52532	D	0.000065	T	0.22044	0.0531	L	0.60455	1.87	0.25142	N	0.990492	D;D	0.55172	0.97;0.97	P;P	0.56042	0.79;0.711	T	0.11470	-1.0586	10	0.51188	T	0.08	-5.0302	2.1972	0.03914	0.4931:0.1144:0.2763:0.1162	.	991;1031	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	M	1031;991	ENSP00000275053:I1031M;ENSP00000358254:I991M	ENSP00000275053:I1031M	I	-	3	3	MMS22L	97719971	1.000000	0.71417	0.983000	0.44433	0.992000	0.81027	0.729000	0.26028	-0.435000	0.07264	-0.250000	0.11733	ATT	.	.		0.398	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041573.3	NM_198468	
AIM1	202	hgsc.bcm.edu	37	6	106992501	106992501	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr6:106992501G>A	ENST00000369066.3	+	10	4358	c.3871G>A	c.(3871-3873)Gga>Aga	p.G1291R	AIM1_ENST00000535438.1_Missense_Mutation_p.G110R|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GCTAGAAGAAGGAGAATACAG	0.418																																					p.G1291R		Atlas-SNP	.											.	AIM1	161	.	0			c.G3871A						.						93.0	95.0	94.0					6																	106992501		2203	4300	6503	SO:0001583	missense	202	exon10			GAAGAAGGAGAAT	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.3871G>A	chr6.hg19:g.106992501G>A	ENSP00000358062:p.Gly1291Arg	99.0	0.0		147.0	61.0	NM_001624	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	ENST00000369066.3	hg19	CCDS34506.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414455	0.83449	.	.	ENSG00000112297	ENST00000369066;ENST00000457437;ENST00000535438	D;D;D	0.94000	-3.33;-3.33;-3.33	5.85	4.99	0.66335	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.000000	0.85682	D	0.000000	D	0.97396	0.9148	H	0.95328	3.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98614	1.0664	10	0.87932	D	0	.	14.935	0.70948	0.0685:0.0:0.9315:0.0	.	110;1291	B4DU04;Q9Y4K1	.;AIM1_HUMAN	R	1291;110;110	ENSP00000358062:G1291R;ENSP00000391419:G110R;ENSP00000439183:G110R	ENSP00000358062:G1291R	G	+	1	0	AIM1	107099194	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.891000	0.92485	1.490000	0.48466	-0.136000	0.14681	GGA	.	.		0.418	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1		
BCLAF1	9774	hgsc.bcm.edu	37	6	136599264	136599264	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr6:136599264T>G	ENST00000531224.1	-	4	1007	c.755A>C	c.(754-756)cAc>cCc	p.H252P	BCLAF1_ENST00000527536.1_Missense_Mutation_p.H252P|BCLAF1_ENST00000527759.1_Missense_Mutation_p.H250P|BCLAF1_ENST00000353331.4_Missense_Mutation_p.H250P|BCLAF1_ENST00000392348.2_Missense_Mutation_p.H250P|BCLAF1_ENST00000530767.1_Missense_Mutation_p.H252P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	252					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTTTGCAGAGTGAACTGTACT	0.438																																					p.H252P	Colon(142;1534 1789 5427 7063 28491)	Atlas-SNP	.											.	BCLAF1	203	.	0			c.A755C						.						147.0	140.0	142.0					6																	136599264		2203	4300	6503	SO:0001583	missense	9774	exon4			GCAGAGTGAACTG	AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.755A>C	chr6.hg19:g.136599264T>G	ENSP00000435210:p.His252Pro	143.0	0.0		221.0	38.0	NM_014739	A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	ENST00000531224.1	hg19	CCDS5177.1	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376065	0.42105	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.82	5.82	0.92795	.	0.000000	0.64402	D	0.000001	T	0.06735	0.0172	N	0.08118	0	0.44110	D	0.996885	D;D;D;D	0.64830	0.987;0.994;0.987;0.987	P;P;P;P	0.53912	0.6;0.737;0.6;0.6	T	0.28235	-1.0050	10	0.52906	T	0.07	-3.6276	10.5159	0.44889	0.0:0.0721:0.0:0.9279	.	250;250;252;252	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	P	252;250;252;252;250;250;252	ENSP00000435210:H252P;ENSP00000229446:H250P;ENSP00000435441:H252P;ENSP00000436501:H252P;ENSP00000434826:H250P;ENSP00000376159:H250P;ENSP00000431734:H252P	ENSP00000229446:H250P	H	-	2	0	BCLAF1	136640957	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.854000	0.55949	2.222000	0.72286	0.528000	0.53228	CAC	.	.		0.438	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042375.2	NM_014739	
RADIL	55698	hgsc.bcm.edu	37	7	4839835	4839835	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr7:4839835G>T	ENST00000399583.3	-	13	3136	c.2949C>A	c.(2947-2949)ccC>ccA	p.P983P	RADIL_ENST00000536091.1_3'UTR|RADIL_ENST00000538469.1_Silent_p.P743P	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	983	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	microtubule (GO:0005874)				NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCAGCCCGGAGGGGCCTCGTT	0.692																																					p.P983P		Atlas-SNP	.											.	RADIL	110	.	0			c.C2949A						.						18.0	22.0	21.0					7																	4839835		2006	4164	6170	SO:0001819	synonymous_variant	55698	exon13			CCCGGAGGGGCCT	AB058752	CCDS43544.1	7p22.1	2010-08-27			ENSG00000157927	ENSG00000157927			22226	protein-coding gene	gene with protein product		611491				16051602, 17704304	Standard	NM_018059		Approved	FLJ10324, KIAA1849, RASIP2	uc003snj.1	Q96JH8	OTTHUMG00000151753	ENST00000399583.3:c.2949C>A	chr7.hg19:g.4839835G>T		42.0	0.0		107.0	31.0	NM_018059	A4D1Z5|A5YM49|B7ZL20|Q0VFZ9|Q75LH3|Q9BSP5|Q9H0M6|Q9NW43|Q9NWC4	Silent	SNP	ENST00000399583.3	hg19	CCDS43544.1																																																																																			.	.		0.692	RADIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323769.2	NM_018059	
MUC17	140453	hgsc.bcm.edu	37	7	100681743	100681743	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr7:100681743T>C	ENST00000306151.4	+	3	7110	c.7046T>C	c.(7045-7047)aTg>aCg	p.M2349T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2349	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGCACCACAATGGTGGCCAGT	0.493																																					p.M2349T		Atlas-SNP	.											.	MUC17	804	.	0			c.T7046C						.						244.0	239.0	241.0					7																	100681743		2203	4300	6503	SO:0001583	missense	140453	exon3			CCACAATGGTGGC	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7046T>C	chr7.hg19:g.100681743T>C	ENSP00000302716:p.Met2349Thr	68.0	0.0		123.0	74.0	NM_001040105	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	hg19	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.864169	0.00552	.	.	ENSG00000169876	ENST00000306151	T	0.02197	4.4	0.679	-1.36	0.09085	.	.	.	.	.	T	0.00998	0.0033	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48031	-0.9070	9	0.12766	T	0.61	.	5.5977	0.17337	0.0:0.5543:0.0:0.4457	.	2349	Q685J3	MUC17_HUMAN	T	2349	ENSP00000302716:M2349T	ENSP00000302716:M2349T	M	+	2	0	MUC17	100468463	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.837000	0.04377	-1.283000	0.02393	-1.568000	0.00874	ATG	.	.		0.493	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
CADPS2	93664	hgsc.bcm.edu	37	7	122056186	122056186	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr7:122056186G>T	ENST00000449022.2	-	18	2528	c.2509C>A	c.(2509-2511)Ctg>Atg	p.L837M	CADPS2_ENST00000334010.7_Missense_Mutation_p.L838M|CADPS2_ENST00000412584.2_Missense_Mutation_p.L834M|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000313070.7_Missense_Mutation_p.L834M|RP5-1101C3.1_ENST00000591140.1_RNA	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	837	Interaction with DRD2.				cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						ATCTCTTCCAGCTTTCTAGCA	0.373																																					p.L844M		Atlas-SNP	.											.	CADPS2	116	.	0			c.C2530A						.						63.0	60.0	61.0					7																	122056186		1836	4085	5921	SO:0001583	missense	93664	exon19			CTTCCAGCTTTCT		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2509C>A	chr7.hg19:g.122056186G>T	ENSP00000398481:p.Leu837Met	35.0	0.0		86.0	19.0	NM_001167940	A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Missense_Mutation	SNP	ENST00000449022.2	hg19	CCDS55158.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	22.6|22.6|22.6	4.306552|4.306552|4.306552	0.81247|0.81247|0.81247	.|.|.	.|.|.	ENSG00000081803|ENSG00000081803|ENSG00000081803	ENST00000397721|ENST00000360097;ENST00000313070;ENST00000334010;ENST00000420900;ENST00000545465;ENST00000412584;ENST00000449022|ENST00000462699	.|T;T;T;T|.	.|0.59502|.	.|0.26;0.28;0.26;0.29|.	5.86|5.86|5.86	5.86|5.86|5.86	0.93980|0.93980|0.93980	.|Calcium-dependent secretion activator (1);|.	.|0.000000|.	.|0.64402|.	.|D|.	.|0.000003|.	T|T|T	0.76955|0.76955|0.76955	0.4060|0.4060|0.4060	M|M|M	0.71206|0.71206|0.71206	2.165|2.165|2.165	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D;D;D;D|.	.|0.89917|.	.|1.0;1.0;1.0;0.999|.	.|D;D;D;D|.	.|0.91635|.	.|0.999;0.991;0.999;0.997|.	T|T|T	0.74293|0.74293|0.74293	-0.3712|-0.3712|-0.3712	5|10|5	.|0.87932|.	.|D|.	.|0|.	-11.9917|-11.9917|-11.9917	20.1813|20.1813|20.1813	0.98205|0.98205|0.98205	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|844;834;837;834|.	.|B7ZM57;Q86UW7-2;Q86UW7;Q86UW7-3|.	.|.;.;CAPS2_HUMAN;.|.	D|M|R	482|10;834;838;845;801;834;837|30	.|ENSP00000325581:L834M;ENSP00000333940:L838M;ENSP00000400401:L834M;ENSP00000398481:L837M|.	.|ENSP00000325581:L834M|.	A|L|S	-|-|-	2|1|3	0|2|2	CADPS2|CADPS2|CADPS2	121843422|121843422|121843422	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	5.895000|5.895000|5.895000	0.69814|0.69814|0.69814	2.763000|2.763000|2.763000	0.94921|0.94921|0.94921	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCT|CTG|AGC	.	.		0.373	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954	
ZNF746	155061	hgsc.bcm.edu	37	7	149171588	149171588	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr7:149171588G>A	ENST00000340622.3	-	7	2102	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	ZNF746_ENST00000458143.2_Missense_Mutation_p.P609S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	608					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AAGGGATCAGGAGGTGCGGGC	0.672																																					p.P609S		Atlas-SNP	.											.	ZNF746	68	.	0			c.C1825T						.						32.0	32.0	32.0					7																	149171588		2201	4297	6498	SO:0001583	missense	155061	exon7			GATCAGGAGGTGC	AK055975	CCDS5897.1, CCDS55180.1	7q36.1	2013-01-08			ENSG00000181220	ENSG00000181220		"""Zinc fingers, C2H2-type"", ""-"""	21948	protein-coding gene	gene with protein product		613914					Standard	NM_152557		Approved	FLJ31413	uc010lpi.2	Q6NUN9	OTTHUMG00000158972	ENST00000340622.3:c.1822C>T	chr7.hg19:g.149171588G>A	ENSP00000345140:p.Pro608Ser	58.0	0.0		74.0	31.0	NM_001163474	A8K6Z9|Q6ZRF9	Missense_Mutation	SNP	ENST00000340622.3	hg19	CCDS5897.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.662254	0.29515	.	.	ENSG00000181220	ENST00000340622;ENST00000458143	T;T	0.09538	3.01;2.97	5.47	5.47	0.80525	.	0.140546	0.32901	N	0.005502	T	0.18509	0.0444	N	0.24115	0.695	0.09310	N	1	D;D	0.67145	0.996;0.993	D;P	0.64144	0.922;0.838	T	0.15378	-1.0439	10	0.27785	T	0.31	-15.9004	16.8082	0.85711	0.0:0.0:1.0:0.0	.	609;608	Q6NUN9-2;Q6NUN9	.;ZN746_HUMAN	S	608;609	ENSP00000345140:P608S;ENSP00000395007:P609S	ENSP00000345140:P608S	P	-	1	0	ZNF746	148802521	0.997000	0.39634	0.220000	0.23810	0.002000	0.02628	3.735000	0.55044	2.570000	0.86706	0.462000	0.41574	CCT	.	.		0.672	ZNF746-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352730.1	NM_152557	
ATP6V1H	51606	hgsc.bcm.edu	37	8	54669202	54669202	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr8:54669202A>C	ENST00000359530.2	-	12	1453	c.1190T>G	c.(1189-1191)cTt>cGt	p.L397R	ATP6V1H_ENST00000355221.3_Missense_Mutation_p.L379R|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.L357R|ATP6V1H_ENST00000396774.2_Missense_Mutation_p.L397R|ATP6V1H_ENST00000523899.1_Intron	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	397					ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|endocytosis (GO:0006897)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|regulation of catalytic activity (GO:0050790)|regulation of defense response to virus by virus (GO:0050690)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|vacuolar acidification (GO:0007035)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V1 domain (GO:0000221)	enzyme regulator activity (GO:0030234)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CACTTCCAAAAGTTTTGTCAA	0.388																																					p.L397R		Atlas-SNP	.											.	ATP6V1H	66	.	0			c.T1190G						.						80.0	74.0	76.0					8																	54669202		2203	4300	6503	SO:0001583	missense	51606	exon12			TCCAAAAGTTTTG	AF132945	CCDS6153.1, CCDS6154.1	8q11.2	2011-05-24	2002-08-29		ENSG00000047249	ENSG00000047249		"""ATPases / V-type"""	18303	protein-coding gene	gene with protein product	"""vacuolar ATP synthase subunit H"""	608861	"""ATPase, H+ transporting, lysosomal 50/57kD, V1 subunit H"""			9620685, 10810093	Standard	NM_015941		Approved	CGI-11, SFD, VMA13, SFDalpha, SFDbeta	uc003xrm.4	Q9UI12	OTTHUMG00000164231	ENST00000359530.2:c.1190T>G	chr8.hg19:g.54669202A>C	ENSP00000352522:p.Leu397Arg	78.0	0.0		91.0	44.0	NM_015941	B3KMR0|Q6PK44|Q9H3E3|Q9Y300	Missense_Mutation	SNP	ENST00000359530.2	hg19	CCDS6153.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.398468	0.83120	.	.	ENSG00000047249	ENST00000355221;ENST00000520188;ENST00000359530;ENST00000396774	.	.	.	5.63	5.63	0.86233	ATPase, V1 complex, subunit H, C-terminal (2);Armadillo-type fold (1);	0.054698	0.85682	D	0.000000	D	0.84534	0.5493	M	0.90082	3.085	0.80722	D	1	D;D	0.60160	0.957;0.987	D;D	0.74023	0.952;0.982	D	0.87847	0.2655	9	0.87932	D	0	-19.0047	14.8248	0.70104	1.0:0.0:0.0:0.0	.	379;397	Q9UI12-2;Q9UI12	.;VATH_HUMAN	R	379;357;397;397	.	ENSP00000347359:L379R	L	-	2	0	ATP6V1H	54831755	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.526000	0.90588	2.142000	0.66516	0.528000	0.53228	CTT	.	.		0.388	ATP6V1H-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377865.1	NM_015941	
NKAIN3	286183	hgsc.bcm.edu	37	8	63161677	63161677	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr8:63161677G>T	ENST00000523211.1	+	1	177	c.45G>T	c.(43-45)gcG>gcT	p.A15A	NKAIN3_ENST00000328472.5_Silent_p.A15A|NKAIN3_ENST00000519049.1_3'UTR	NM_173688.2	NP_775959.1	Q8N8D7	NKAI3_HUMAN	Na+/K+ transporting ATPase interacting 3	15						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				GCCTCTGCGCGCTGCAGTTGG	0.716																																					p.A15A		Atlas-SNP	.											.	NKAIN3	32	.	0			c.G45T						.						5.0	8.0	7.0					8																	63161677		1822	3534	5356	SO:0001819	synonymous_variant	286183	exon1			CTGCGCGCTGCAG	AK096949	CCDS55239.1	8q12.3	2014-08-12	2007-10-04	2007-10-04	ENSG00000185942	ENSG00000185942		"""Na+/K+ transporting ATPase interacting"""	26829	protein-coding gene	gene with protein product		612872	"""family with sequence similarity 77, member D"""	FAM77D		17606467	Standard	NM_173688		Approved	FLJ39630	uc010lyq.1	Q8N8D7	OTTHUMG00000164361	ENST00000523211.1:c.45G>T	chr8.hg19:g.63161677G>T		81.0	0.0		81.0	35.0	NM_173688		Silent	SNP	ENST00000523211.1	hg19	CCDS55239.1																																																																																			.	.		0.716	NKAIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378447.2	NM_173688	
INTS8	55656	hgsc.bcm.edu	37	8	95879510	95879510	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr8:95879510A>G	ENST00000523731.1	+	20	2492	c.2359A>G	c.(2359-2361)Att>Gtt	p.I787V	INTS8_ENST00000447247.1_Missense_Mutation_p.I787V|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	787					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					AAAGGAGGACATTGTGAATGA	0.274																																					p.I787V		Atlas-SNP	.											.	INTS8	92	.	0			c.A2359G						.						110.0	112.0	111.0					8																	95879510		2203	4291	6494	SO:0001583	missense	55656	exon20			GAGGACATTGTGA	AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.2359A>G	chr8.hg19:g.95879510A>G	ENSP00000430338:p.Ile787Val	283.0	0.0		624.0	401.0	NM_017864	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	ENST00000523731.1	hg19	CCDS34925.1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.167676	0.38315	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	T;T	0.32272	1.46;1.46	5.28	3.99	0.46301	.	0.046974	0.85682	D	0.000000	T	0.27798	0.0684	L	0.60455	1.87	0.52501	D	0.999952	B	0.11235	0.004	B	0.15870	0.014	T	0.07233	-1.0783	10	0.12430	T	0.62	-17.3747	12.4795	0.55833	0.8663:0.0:0.0:0.1337	.	787	Q75QN2	INT8_HUMAN	V	787	ENSP00000430338:I787V;ENSP00000398203:I787V	ENSP00000398203:I787V	I	+	1	0	INTS8	95948686	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.819000	0.75262	1.983000	0.57843	0.455000	0.32223	ATT	.	.		0.274	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379794.1	NM_017864	
VPS13B	157680	hgsc.bcm.edu	37	8	100128060	100128060	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr8:100128060G>T	ENST00000358544.2	+	7	1006	c.895G>T	c.(895-897)Gac>Tac	p.D299Y	VPS13B_ENST00000355155.1_Missense_Mutation_p.D299Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D299Y|VPS13B_ENST00000395996.1_Missense_Mutation_p.D299Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D299Y	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	299					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CGAAATAGAGGACCTTACTTG	0.299																																					p.D299Y	Colon(161;2205 2542 7338 31318)	Atlas-SNP	.											.	VPS13B	811	.	0			c.G895T						.						76.0	78.0	77.0					8																	100128060		2203	4296	6499	SO:0001583	missense	157680	exon7			ATAGAGGACCTTA	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.895G>T	chr8.hg19:g.100128060G>T	ENSP00000351346:p.Asp299Tyr	242.0	0.0		570.0	170.0	NM_152564	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	hg19	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840611	0.51057	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.83673	-1.16;-0.45;-0.45;-0.16;-1.75	5.65	4.78	0.61160	.	0.279655	0.33477	N	0.004876	D	0.83839	0.5341	L	0.46157	1.445	0.52501	D	0.999956	P;P;P;P;P	0.51537	0.946;0.828;0.892;0.786;0.739	P;B;P;P;P	0.55161	0.77;0.44;0.542;0.542;0.501	T	0.82847	-0.0255	10	0.41790	T	0.15	.	10.6553	0.45671	0.1457:0.0:0.8543:0.0	.	299;299;299;299;299	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	Y	299	ENSP00000347281:D299Y;ENSP00000349685:D299Y;ENSP00000351346:D299Y;ENSP00000379318:D299Y;ENSP00000398472:D299Y	ENSP00000347281:D299Y	D	+	1	0	VPS13B	100197236	1.000000	0.71417	0.320000	0.25306	0.568000	0.35870	5.881000	0.69706	1.396000	0.46663	0.655000	0.94253	GAC	.	.		0.299	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
C8orf33	65265	hgsc.bcm.edu	37	8	146278796	146278796	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr8:146278796G>A	ENST00000331434.6	+	4	631	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	173										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GATGGAAGCCGAATGGCGTGA	0.567																																					p.E173K		Atlas-SNP	.											.	C8orf33	25	.	0			c.G517A						.						50.0	56.0	54.0					8																	146278796		2203	4300	6503	SO:0001583	missense	65265	exon4			GAAGCCGAATGGC		CCDS34974.1	8q24.3	2012-04-11			ENSG00000182307	ENSG00000182307			26104	protein-coding gene	gene with protein product							Standard	NM_023080		Approved	FLJ20989	uc003zfc.4	Q9H7E9	OTTHUMG00000165256	ENST00000331434.6:c.517G>A	chr8.hg19:g.146278796G>A	ENSP00000330361:p.Glu173Lys	63.0	0.0		107.0	15.0	NM_023080	A6NGC0|Q96BT8	Missense_Mutation	SNP	ENST00000331434.6	hg19	CCDS34974.1	.	.	.	.	.	.	.	.	.	.	.	18.13	3.555884	0.65425	.	.	ENSG00000182307	ENST00000331434	.	.	.	3.75	2.83	0.33086	.	0.126216	0.50627	D	0.000104	T	0.63498	0.2516	M	0.78456	2.415	0.22171	N	0.999316	D	0.89917	1.0	D	0.67103	0.949	T	0.54125	-0.8340	8	.	.	.	-16.0644	9.0264	0.36232	0.0:0.227:0.773:0.0	.	173	Q9H7E9	CH033_HUMAN	K	173	.	.	E	+	1	0	C8orf33	146249600	0.001000	0.12720	0.007000	0.13788	0.036000	0.12997	0.222000	0.17699	0.852000	0.35287	0.460000	0.39030	GAA	.	.		0.567	C8orf33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382995.1	NM_023080	
IFNA14	3448	hgsc.bcm.edu	37	9	21239511	21239512	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:21239511_21239512CC>AG	ENST00000380222.2	-	1	466_467	c.423_424GG>CT	c.(421-426)ctGGct>ctCTct	p.A142S		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	142					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTCTTCACAGCCAGGATGGAGT	0.46																																					p.A142S|p.L141L		Atlas-SNP	.											.	IFNA14	29	.	0			c.G424T|c.G423C						.																																			SO:0001583	missense	3448	exon1			TCACAGCCAGGAT|CACAGCCAGGATG		CCDS6501.1	9p22	2010-08-24			ENSG00000228083	ENSG00000228083		"""Interferons"""	5420	protein-coding gene	gene with protein product		147579				1385305	Standard	NM_002172		Approved	LEIF2H, IFN-alphaH	uc010mis.3	P01570	OTTHUMG00000019665	ENST00000380222.2:c.423_424delinsAG	chr9.hg19:g.21239511_21239512delinsAG	ENSP00000369571:p.Ala142Ser	129.0|130.0	0.0		162.0	19.0|18.0	NM_002172	Q5VZ56|Q7M4S1	Missense_Mutation|Silent	SNP	ENST00000380222.2	hg19	CCDS6501.1																																																																																			.	.		0.460	IFNA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051894.1	NM_002172	
ANKRD18B	441459	hgsc.bcm.edu	37	9	33548246	33548246	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:33548246A>T	ENST00000290943.6	+	9	1370	c.1274A>T	c.(1273-1275)gAa>gTa	p.E425V		NM_001244752.1	NP_001231681.1	A2A2Z9	AN18B_HUMAN	ankyrin repeat domain 18B	425										NS(1)|breast(1)|endometrium(2)|lung(1)|prostate(1)|stomach(1)	7						GAAAGACTAGAAGCTGAAGTT	0.378																																					p.E424V		Atlas-SNP	.											.	ANKRD18B	46	.	0			c.A1271T						.																																			SO:0001583	missense	441459	exon9			GACTAGAAGCTGA			9p13.3	2013-01-10			ENSG00000230453	ENSG00000230453		"""Ankyrin repeat domain containing"""	23644	protein-coding gene	gene with protein product							Standard	NM_001244752		Approved	bA255A11.3	uc010mjw.2	A2A2Z9	OTTHUMG00000019776	ENST00000290943.6:c.1274A>T	chr9.hg19:g.33548246A>T	ENSP00000290943:p.Glu425Val	70.0	0.0		102.0	49.0	NM_001244752		Missense_Mutation	SNP	ENST00000290943.6	hg19		.	.	.	.	.	.	.	.	.	.	a	14.18	2.457976	0.43634	.	.	ENSG00000230453	ENST00000290943	T	0.30981	1.51	1.61	1.61	0.23674	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.30330	N	0.78678	.	.	.	.	.	.	T	0.50074	-0.8870	5	0.87932	D	0	.	7.2784	0.26297	1.0:0.0:0.0:0.0	.	.	.	.	V	425	ENSP00000290943:E425V	ENSP00000290943:E425V	E	+	2	0	ANKRD18B	33538246	0.996000	0.38824	0.535000	0.28026	0.019000	0.09904	3.723000	0.54955	0.989000	0.38761	0.248000	0.18094	GAA	.	.		0.378	ANKRD18B-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000313729.2	XM_001718334	
SPATA31D1	389763	hgsc.bcm.edu	37	9	84606650	84606650	+	Missense_Mutation	SNP	G	G	T	rs368407426		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:84606650G>T	ENST00000344803.2	+	4	1312	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	422					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTCAAAAAAAGGGGTGATTTC	0.428																																					p.R422M		Atlas-SNP	.											.	.	.	.	0			c.G1265T						.	G	MET/ARG	1,3679		0,1,1839	79.0	69.0	72.0		1265	-0.9	0.0	9		72	0,8186		0,0,4093	no	missense	FAM75D1	NM_001001670.2	91	0,1,5932	TT,TG,GG		0.0,0.0272,0.0084	probably-damaging	422/1577	84606650	1,11865	1840	4093	5933	SO:0001583	missense	389763	exon4			AAAAAAGGGGTGA		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1265G>T	chr9.hg19:g.84606650G>T	ENSP00000341988:p.Arg422Met	155.0	0.0		262.0	110.0	NM_001001670		Missense_Mutation	SNP	ENST00000344803.2	hg19	CCDS47986.1	.	.	.	.	.	.	.	.	.	.	G	12.75	2.031487	0.35797	2.72E-4	0.0	ENSG00000214929	ENST00000344803	T	0.06528	3.29	3.41	-0.908	0.10517	.	1.226850	0.05724	N	0.598296	T	0.22399	0.0540	M	0.78637	2.42	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.16748	-1.0392	10	0.72032	D	0.01	-4.4445	6.2473	0.20825	0.571:0.0:0.429:0.0	.	422	Q6ZQQ2	F75D1_HUMAN	M	422	ENSP00000341988:R422M	ENSP00000341988:R422M	R	+	2	0	FAM75D1	83796470	0.005000	0.15991	0.002000	0.10522	0.029000	0.11900	-0.121000	0.10643	-0.046000	0.13446	0.650000	0.86243	AGG	.	.		0.428	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
OR1N1	138883	hgsc.bcm.edu	37	9	125288746	125288746	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:125288746T>G	ENST00000304880.2	-	1	826	c.827A>C	c.(826-828)tAc>tCc	p.Y276S		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						CACTATGGTGTACATTGCAGC	0.493																																					p.Y276S		Atlas-SNP	.											.	OR1N1	38	.	0			c.A827C						.						107.0	99.0	102.0					9																	125288746		2203	4300	6503	SO:0001583	missense	138883	exon1			ATGGTGTACATTG	U86216	CCDS6844.1	9q34.11	2012-08-09			ENSG00000171505	ENSG00000171505		"""GPCR / Class A : Olfactory receptors"""	8221	protein-coding gene	gene with protein product				OR1N3		9500546	Standard	NM_012363		Approved	OR1-26	uc004bmn.1	Q8NGS0	OTTHUMG00000020608	ENST00000304880.2:c.827A>C	chr9.hg19:g.125288746T>G	ENSP00000306974:p.Tyr276Ser	73.0	0.0		108.0	47.0	NM_012363	A3KFM1|O43870|Q6IF16|Q96R93	Missense_Mutation	SNP	ENST00000304880.2	hg19	CCDS6844.1	.	.	.	.	.	.	.	.	.	.	T	18.63	3.666235	0.67814	.	.	ENSG00000171505	ENST00000304880	T	0.00311	8.15	3.62	2.43	0.29744	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31566	U	0.007432	T	0.00666	0.0022	M	0.89353	3.025	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.27297	-1.0078	10	0.87932	D	0	.	8.2457	0.31686	0.0:0.103:0.0:0.897	.	276	Q8NGS0	OR1N1_HUMAN	S	276	ENSP00000306974:Y276S	ENSP00000306974:Y276S	Y	-	2	0	OR1N1	124328567	0.997000	0.39634	0.016000	0.15963	0.914000	0.54420	3.376000	0.52417	1.559000	0.49555	0.367000	0.22151	TAC	.	.		0.493	OR1N1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053938.1		
AK1	203	hgsc.bcm.edu	37	9	130630625	130630625	+	Missense_Mutation	SNP	T	T	C	rs137853203		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:130630625T>C	ENST00000373176.1	-	6	643	c.491A>G	c.(490-492)tAt>tGt	p.Y164C	AK1_ENST00000373156.1_Missense_Mutation_p.Y164C|RP11-203J24.9_ENST00000476274.2_RNA|MIR4672_ENST00000583126.1_RNA|AK1_ENST00000223836.10_Missense_Mutation_p.Y180C	NM_000476.2	NP_000467.1			adenylate kinase 1											endometrium(1)|prostate(1)	2						ACGTTTCTCATAGAAGGCGAT	0.597																																					p.Y164C		Atlas-SNP	.											.	AK1	13	.	0			c.A491G	GRCh37	CM970075	AK1	M	rs137853203	.						77.0	57.0	64.0					9																	130630625		2203	4299	6502	SO:0001583	missense	203	exon6			TTCTCATAGAAGG	J04809	CCDS6881.1	9q34.1	2008-02-05			ENSG00000106992	ENSG00000106992	2.7.4.3	"""Adenylate kinases"""	361	protein-coding gene	gene with protein product		103000					Standard	NM_000476		Approved		uc004bsm.4	P00568	OTTHUMG00000020722	ENST00000373176.1:c.491A>G	chr9.hg19:g.130630625T>C	ENSP00000362271:p.Tyr164Cys	31.0	0.0		41.0	24.0	NM_000476		Missense_Mutation	SNP	ENST00000373176.1	hg19	CCDS6881.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.6|20.6	4.011936|4.011936	0.75046|0.75046	.|.	.|.	ENSG00000106992|ENSG00000106992	ENST00000413016|ENST00000373176;ENST00000373156;ENST00000223836	.|D;D;D	.|0.85171	.|-1.95;-1.95;-1.95	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95589|0.95589	0.8566|0.8566	H|H	0.98980|0.98980	4.39|4.39	0.80722|0.80722	A|A	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.97247|0.97247	0.9895|0.9895	4|9	.|0.87932	.|D	.|0	-34.4225|-34.4225	14.1613|14.1613	0.65448|0.65448	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|164	.|P00568	.|KAD1_HUMAN	V|C	105|164;164;180	.|ENSP00000362271:Y164C;ENSP00000362249:Y164C;ENSP00000223836:Y180C	.|ENSP00000223836:Y180C	M|Y	-|-	1|2	0|0	AK1|AK1	129670446|129670446	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.722000|0.722000	0.41435|0.41435	7.622000|7.622000	0.83099|0.83099	2.029000|2.029000	0.59856|0.59856	0.459000|0.459000	0.35465|0.35465	ATG|TAT	.	.		0.597	AK1-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054307.1		
AIF1L	83543	hgsc.bcm.edu	37	9	133993147	133993147	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:133993147G>T	ENST00000247291.3	+	5	295	c.207G>T	c.(205-207)ctG>ctT	p.L69L	AIF1L_ENST00000372301.2_Silent_p.L13L|AIF1L_ENST00000372297.2_Silent_p.L13L|AIF1L_ENST00000372309.3_Silent_p.L95L|AIF1L_ENST00000372300.1_Silent_p.L69L|AIF1L_ENST00000372312.3_Silent_p.L74L|AIF1L_ENST00000372302.1_Silent_p.L61L|AIF1L_ENST00000372298.1_Silent_p.L69L	NM_031426.3	NP_113614.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	69	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			lung(2)	2						CGGCAGACCTGATGTCTTTAA	0.542																																					p.L95L	Esophageal Squamous(95;611 1423 5044 34794 42333)	Atlas-SNP	.											.	AIF1L	15	.	0			c.G285T						.						75.0	72.0	73.0					9																	133993147		2203	4300	6503	SO:0001819	synonymous_variant	83543	exon6			AGACCTGATGTCT	AL136566	CCDS6939.1, CCDS55348.1, CCDS55349.1	9q34.13-q34.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000126878	ENSG00000126878		"""EF-hand domain containing"""	28904	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 58"""	C9orf58		11230166	Standard	NM_001185095		Approved	IBA2, FLJ12783	uc004cad.2	Q9BQI0	OTTHUMG00000020817	ENST00000247291.3:c.207G>T	chr9.hg19:g.133993147G>T		86.0	0.0		81.0	36.0	NM_001185095	B2RBC4|Q6ZR40|Q8NAX7|Q8WU47|Q9H9G0	Silent	SNP	ENST00000247291.3	hg19	CCDS6939.1																																																																																			.	.		0.542	AIF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054703.2	NM_031426	
NUP214	8021	hgsc.bcm.edu	37	9	134073951	134073951	+	Silent	SNP	T	T	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:134073951T>G	ENST00000359428.5	+	29	5214	c.5070T>G	c.(5068-5070)acT>acG	p.T1690T	NUP214_ENST00000451030.1_Silent_p.T1691T|NUP214_ENST00000483497.2_Silent_p.T516T|NUP214_ENST00000411637.2_Silent_p.T1680T			P35658	NU214_HUMAN	nucleoporin 214kDa	1690	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GGCAGCAGACTGGTAGCACAG	0.607			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																p.T1690T	Pancreas(4;24 48 25510 30394 32571)	Atlas-SNP	.		Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	.	NUP214	166	.	0			c.T5070G						.						48.0	50.0	49.0					9																	134073951		2203	4300	6503	SO:0001819	synonymous_variant	8021	exon29			GCAGACTGGTAGC	X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.5070T>G	chr9.hg19:g.134073951T>G		162.0	0.0		236.0	120.0	NM_005085	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Silent	SNP	ENST00000359428.5	hg19	CCDS6940.1																																																																																			.	.		0.607	NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
ZSWIM8	23053	hgsc.bcm.edu	37	10	75548868	75548868	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr10:75548868T>C	ENST00000605216.1	+	3	594	c.377T>C	c.(376-378)cTg>cCg	p.L126P	ZSWIM8_ENST00000603114.1_Missense_Mutation_p.L126P|ZSWIM8_ENST00000604729.1_Missense_Mutation_p.L126P|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.L126P|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.L126P	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	126							zinc ion binding (GO:0008270)										TATTCGTGCCTGGCCAATGGC	0.562																																					p.L126P		Atlas-SNP	.											.	.	.	.	0			c.T377C						.						99.0	100.0	100.0					10																	75548868		2090	4208	6298	SO:0001583	missense	23053	exon3			CGTGCCTGGCCAA	BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.377T>C	chr10.hg19:g.75548868T>C	ENSP00000474748:p.Leu126Pro	63.0	0.0		105.0	42.0	NM_001242488	B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.99|19.99	3.928246|3.928246	0.73327|0.73327	.|.	.|.	ENSG00000214655|ENSG00000214655	ENST00000398706|ENST00000446546	T|.	0.60797|.	0.16|.	5.76|5.76	4.64|4.64	0.57946|0.57946	.|.	.|.	.|.	.|.	.|.	T|T	0.73961|0.73961	0.3654|0.3654	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.69142|.	0.943;0.962;0.943|.	T|T	0.75852|0.75852	-0.3171|-0.3171	9|5	0.87932|.	D|.	0|.	.|.	11.2073|11.2073	0.48778|0.48778	0.0:0.0712:0.0:0.9287|0.0:0.0712:0.0:0.9287	.|.	126;126;126|.	A7E2V4;A7E2V4-5;A7E2V4-4|.	K0913_HUMAN;.;.|.	P|R	126|211	ENSP00000381693:L126P|.	ENSP00000381693:L126P|.	L|W	+|+	2|1	0|0	KIAA0913|KIAA0913	75218874|75218874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.972000|7.972000	0.88022|0.88022	2.202000|2.202000	0.70862|0.70862	0.533000|0.533000	0.62120|0.62120	CTG|TGG	.	.		0.562	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1	NM_001242487	
RRM1	6240	hgsc.bcm.edu	37	11	4148360	4148360	+	Silent	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:4148360A>G	ENST00000300738.5	+	14	1770	c.1566A>G	c.(1564-1566)gcA>gcG	p.A522A	RRM1_ENST00000423050.2_Silent_p.A425A|RRM1_ENST00000537197.1_Silent_p.A184A|RRM1_ENST00000534285.1_Silent_p.A300A	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	522					cell proliferation in forebrain (GO:0021846)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA replication (GO:0006260)|male gonad development (GO:0008584)|mitotic cell cycle (GO:0000278)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein heterotetramerization (GO:0051290)|pyrimidine nucleobase metabolic process (GO:0006206)|response to ionizing radiation (GO:0010212)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TTGAGAGTGCAGAAGCCCAGT	0.468																																					p.A522A	NSCLC(45;1345 1376 6258 22925)|Ovarian(34;894 1053 6175 12768)	Atlas-SNP	.											.	RRM1	31	.	0			c.A1566G						.						117.0	120.0	119.0					11																	4148360		2201	4298	6499	SO:0001819	synonymous_variant	6240	exon14			GAGTGCAGAAGCC	X59543	CCDS7750.1	11p15.5	2009-07-10	2008-03-11		ENSG00000167325	ENSG00000167325	1.17.14.1		10451	protein-coding gene	gene with protein product		180410	"""ribonucleotide reductase M1 polypeptide"""			7557993	Standard	NM_001033		Approved		uc001lyw.4	P23921	OTTHUMG00000133361	ENST00000300738.5:c.1566A>G	chr11.hg19:g.4148360A>G		103.0	0.0		124.0	56.0	NM_001033	Q9UNN2	Silent	SNP	ENST00000300738.5	hg19	CCDS7750.1																																																																																			.	.		0.468	RRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257197.1	NM_001033	
OR5L1	219437	hgsc.bcm.edu	37	11	55579631	55579631	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:55579631C>T	ENST00000333973.2	+	1	778	c.689C>T	c.(688-690)tCt>tTt	p.S230F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	230						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S230F(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AAGATGGGCTCTGCAGAGGGC	0.512																																					p.S230F		Atlas-SNP	.											OR5L1,trunk,malignant_melanoma,0,1	OR5L1	145	.	1	Substitution - Missense(1)	skin(1)	c.C689T						.						188.0	154.0	166.0					11																	55579631		2200	4296	6496	SO:0001583	missense	219437	exon1			TGGGCTCTGCAGA	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.689C>T	chr11.hg19:g.55579631C>T	ENSP00000335529:p.Ser230Phe	74.0	0.0		70.0	29.0	NM_001004738	B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	hg19	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.310525	0.81358	.	.	ENSG00000186117	ENST00000333973	T	0.00340	8.04	4.12	4.12	0.48240	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000080	T	0.01254	0.0041	H	0.95004	3.61	0.28435	N	0.91709	D	0.89917	1.0	D	0.97110	1.0	T	0.04178	-1.0971	10	0.87932	D	0	-34.6134	15.121	0.72443	0.0:1.0:0.0:0.0	.	230	Q8NGL2	OR5L1_HUMAN	F	230	ENSP00000335529:S230F	ENSP00000335529:S230F	S	+	2	0	OR5L1	55336207	0.514000	0.26202	0.028000	0.17463	0.902000	0.53008	3.162000	0.50755	1.875000	0.54330	0.428000	0.28381	TCT	.	.		0.512	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738	
DAK	26007	hgsc.bcm.edu	37	11	61111672	61111672	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:61111672G>T	ENST00000394900.3	+	13	1396	c.1167G>T	c.(1165-1167)gaG>gaT	p.E389D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	389	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TGGGCCTGGAGGAACACCTGA	0.642																																					p.E389D		Atlas-SNP	.											.	DAK	52	.	0			c.G1167T						.						67.0	63.0	64.0					11																	61111672		2203	4299	6502	SO:0001583	missense	26007	exon13			CCTGGAGGAACAC		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1167G>T	chr11.hg19:g.61111672G>T	ENSP00000378360:p.Glu389Asp	103.0	0.0		152.0	72.0	NM_015533	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Missense_Mutation	SNP	ENST00000394900.3	hg19	CCDS8003.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776826	0.70107	.	.	ENSG00000149476	ENST00000394900;ENST00000529479	T;T	0.37915	1.17;1.18	6.08	4.2	0.49525	Dak phosphatase (2);	0.270973	0.41938	D	0.000786	T	0.56499	0.1989	M	0.87269	2.87	0.41751	D	0.989667	P;P	0.52061	0.9;0.95	P;P	0.55161	0.521;0.77	T	0.65726	-0.6098	10	0.87932	D	0	-37.4166	11.3685	0.49686	0.144:0.0:0.856:0.0	.	389;389	Q2L9C1;Q3LXA3	.;DHAK_HUMAN	D	389;388	ENSP00000378360:E389D;ENSP00000432539:E388D	ENSP00000378360:E389D	E	+	3	2	DAK	60868248	1.000000	0.71417	0.998000	0.56505	0.369000	0.29798	4.793000	0.62474	1.586000	0.49944	0.655000	0.94253	GAG	.	.		0.642	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394425.4	NM_015533	
CHRM1	1128	hgsc.bcm.edu	37	11	62677945	62677945	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:62677945G>A	ENST00000306960.3	-	2	1169	c.628C>T	c.(628-630)Cgc>Tgc	p.R210C	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	210					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|cognition (GO:0050890)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|neuromuscular synaptic transmission (GO:0007274)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of ion transport (GO:0043270)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of locomotion (GO:0040012)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)			large_intestine(5)|lung(3)|stomach(1)	9					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Benzatropine(DB00245)|Biperiden(DB00810)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbachol(DB00411)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clidinium(DB00771)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Doxylamine(DB00366)|Escitalopram(DB01175)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Flupentixol(DB00875)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Trospium(DB00209)|Ziprasidone(DB00246)	CGGTAGATGCGCCAGTAGAGC	0.617																																					p.R210C		Atlas-SNP	.											.	CHRM1	29	.	0			c.C628T						.						74.0	59.0	64.0					11																	62677945		2201	4298	6499	SO:0001583	missense	1128	exon2			AGATGCGCCAGTA	Y00508	CCDS8040.1	11q12-q13	2012-08-08				ENSG00000168539		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1950	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 1"""	118510					Standard	NM_000738		Approved		uc001nwi.3	P11229		ENST00000306960.3:c.628C>T	chr11.hg19:g.62677945G>A	ENSP00000306490:p.Arg210Cys	52.0	0.0		62.0	23.0	NM_000738	Q96RH1	Missense_Mutation	SNP	ENST00000306960.3	hg19	CCDS8040.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429867	0.62844	.	.	ENSG00000168539	ENST00000306960;ENST00000543973	T;T	0.39592	1.07;1.07	4.48	4.48	0.54585	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000031	T	0.63546	0.2520	M	0.82716	2.605	0.58432	D	0.999997	D	0.89917	1.0	D	0.72625	0.978	T	0.68116	-0.5494	10	0.87932	D	0	-16.9303	9.8437	0.41015	0.0:0.0:0.7955:0.2045	.	210	P11229	ACM1_HUMAN	C	210	ENSP00000306490:R210C;ENSP00000441188:R210C	ENSP00000306490:R210C	R	-	1	0	CHRM1	62434521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.534000	0.36051	2.329000	0.79093	0.563000	0.77884	CGC	.	.		0.617	CHRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396178.1	NM_000738	
RSF1	51773	hgsc.bcm.edu	37	11	77409582	77409582	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:77409582C>A	ENST00000308488.6	-	7	2967	c.2665G>T	c.(2665-2667)Gat>Tat	p.D889Y	RSF1_ENST00000360355.2_Missense_Mutation_p.D858Y|RSF1_ENST00000480887.1_Missense_Mutation_p.D637Y			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	889					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCATCATCATCTGCTAGGATG	0.413																																					p.D889Y		Atlas-SNP	.											.	RSF1	105	.	0			c.G2665T						.						226.0	206.0	213.0					11																	77409582		2200	4292	6492	SO:0001583	missense	51773	exon7			CATCATCTGCTAG	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.2665G>T	chr11.hg19:g.77409582C>A	ENSP00000311513:p.Asp889Tyr	86.0	0.0		147.0	58.0	NM_016578	Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Missense_Mutation	SNP	ENST00000308488.6	hg19	CCDS8253.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.80|17.80	3.477684|3.477684	0.63849|0.63849	.|.	.|.	ENSG00000048649|ENSG00000048649	ENST00000308488;ENST00000480887;ENST00000360355;ENST00000526324|ENST00000532556	D;D;D;D|.	0.88046|.	-2.33;-2.33;-2.33;-2.33|.	4.68|4.68	4.68|4.68	0.58851|0.58851	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.52532|.	D|.	0.000073|.	T|T	0.55369|0.55369	0.1916|0.1916	N|N	0.25957|0.25957	0.775|0.775	0.53005|0.53005	D|D	0.999964|0.999964	B|.	0.32302|.	0.363|.	B|.	0.35073|.	0.195|.	T|T	0.50575|0.50575	-0.8812|-0.8812	10|5	0.72032|.	D|.	0.01|.	-17.8695|-17.8695	17.7579|17.7579	0.88455|0.88455	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	889|.	Q96T23|.	RSF1_HUMAN|.	Y|H	889;637;858;690|142	ENSP00000311513:D889Y;ENSP00000434509:D637Y;ENSP00000353511:D858Y;ENSP00000432022:D690Y|.	ENSP00000311513:D889Y|.	D|Q	-|-	1|3	0|2	RSF1|RSF1	77087230|77087230	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	4.116000|4.116000	0.57871|0.57871	2.580000|2.580000	0.87095|0.87095	0.591000|0.591000	0.81541|0.81541	GAT|CAG	.	.		0.413	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578	
NFRKB	4798	hgsc.bcm.edu	37	11	129754016	129754016	+	Silent	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:129754016A>G	ENST00000446488.3	-	7	868	c.765T>C	c.(763-765)agT>agC	p.S255S	NFRKB_ENST00000304521.5_Silent_p.S255S|NFRKB_ENST00000524794.1_Silent_p.S280S|NFRKB_ENST00000524746.1_Silent_p.S255S	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	255					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TCTTCAGGTCACTGTCCCCCA	0.428																																					p.S280S		Atlas-SNP	.											.	NFRKB	101	.	0			c.T840C						.						287.0	245.0	259.0					11																	129754016		2201	4297	6498	SO:0001819	synonymous_variant	4798	exon6			CAGGTCACTGTCC		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.765T>C	chr11.hg19:g.129754016A>G		59.0	0.0		92.0	35.0	NM_006165	Q12869|Q15312|Q9H048	Silent	SNP	ENST00000446488.3	hg19	CCDS44770.1																																																																																			.	.		0.428	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165	
ZNF384	171017	hgsc.bcm.edu	37	12	6777070	6777070	+	Missense_Mutation	SNP	T	T	G	rs72393318|rs544124628|rs3835029	byFrequency	TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:6777070T>G	ENST00000396801.3	-	11	1751	c.1544A>C	c.(1543-1545)cAa>cCa	p.Q515P	ZNF384_ENST00000396795.1_Missense_Mutation_p.Q454P|ZNF384_ENST00000319770.3_Missense_Mutation_p.Q438P|ZNF384_ENST00000361959.3_Missense_Mutation_p.Q515P|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Missense_Mutation_p.Q399P|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396799.2_Missense_Mutation_p.Q454P	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	515	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)	p.L139delL(6)|p.Q455delQ(3)|p.Q516delQ(3)	EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						TGGTGgctgttgctgctgctg	0.672			T	"""EWSR1, TAF15 """	ALL																																p.Q515P		Atlas-SNP	.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	ZNF384_ENST00000361959,caecum,carcinoma,+1,4	ZNF384	102	.	12	Deletion - In frame(12)	breast(12)	c.A1544C						.						19.0	22.0	21.0					12																	6777070		2201	4296	6497	SO:0001583	missense	171017	exon11			GGCTGTTGCTGCT	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1544A>C	chr12.hg19:g.6777070T>G	ENSP00000380019:p.Gln515Pro	48.0	0.0		66.0	6.0	NM_001135734	O15407|Q7Z722|Q8N938	Missense_Mutation	SNP	ENST00000396801.3	hg19	CCDS44817.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0|0	-2.663886|-2.663886	0.00107|0.00107	.|.	.|.	ENSG00000219410|ENSG00000126746	ENST00000407384|ENST00000319770;ENST00000396795;ENST00000396801;ENST00000361959;ENST00000355772;ENST00000396799	.|T;T;T;T;T;T	.|0.55588	.|0.51;0.51;0.51;0.51;0.51;0.51	0.853|0.853	-0.852|-0.852	0.10713|0.10713	.|.	.|0.088353	.|0.44483	.|N	.|0.000451	T|T	0.22589|0.22589	0.0545|0.0545	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B;B;B;B	.|0.02656	.|0.0;0.0;0.0;0.0	.|B;B;B;B	.|0.04013	.|0.0;0.001;0.001;0.001	T|T	0.08764|0.08764	-1.0706|-1.0706	6|10	0.87932|0.21014	D|T	0|0.42	-0.8311|-0.8311	3.6518|3.6518	0.08206|0.08206	0.0:0.0:0.4097:0.5903|0.0:0.0:0.4097:0.5903	.|.	.|515;399;438;454	.|Q8TF68;Q8TF68-3;F8W6Q3;Q8TF68-2	.|ZN384_HUMAN;.;.;.	W|P	125|438;454;515;515;399;454	.|ENSP00000321650:Q438P;ENSP00000380013:Q454P;ENSP00000380019:Q515P;ENSP00000354592:Q515P;ENSP00000348018:Q399P;ENSP00000380017:Q454P	ENSP00000384049:L125W|ENSP00000321650:Q438P	L|Q	+|-	2|2	0|0	AC125494.1|ZNF384	6647331|6647331	0.892000|0.892000	0.30473|0.30473	0.100000|0.100000	0.21137|0.21137	0.041000|0.041000	0.13682|0.13682	0.394000|0.394000	0.20834|0.20834	-0.197000|-0.197000	0.10350|0.10350	-0.815000|-0.815000	0.03128|0.03128	TTG|CAA	.	.		0.672	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1		
ZNF384	171017	hgsc.bcm.edu	37	12	6777075	6777075	+	Silent	SNP	C	C	T	rs1052680		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:6777075C>T	ENST00000396801.3	-	11	1746	c.1539G>A	c.(1537-1539)caG>caA	p.Q513Q	ZNF384_ENST00000396795.1_Silent_p.Q452Q|ZNF384_ENST00000319770.3_Silent_p.Q436Q|ZNF384_ENST00000361959.3_Silent_p.Q513Q|RP4-761J14.8_ENST00000586338.1_RNA|ZNF384_ENST00000355772.4_Silent_p.Q397Q|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000396799.2_Silent_p.Q452Q	NM_001135734.2	NP_001129206.1	Q8TF68	ZN384_HUMAN	zinc finger protein 384	513	Gln-rich.				nucleocytoplasmic transport (GO:0006913)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	focal adhesion (GO:0005925)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						gctgttgctgctgctgctgct	0.667			T	"""EWSR1, TAF15 """	ALL																																p.Q513Q		Atlas-SNP	.		Dom	yes		12	12p13	171017	zinc finger protein 384 (CIZ/NMP4)		L	.	ZNF384	102	.	0			c.G1539A						.						18.0	22.0	21.0					12																	6777075		2203	4296	6499	SO:0001819	synonymous_variant	171017	exon11			TTGCTGCTGCTGC	U80738	CCDS8557.1, CCDS31732.1, CCDS44817.1	12p12	2013-01-08	2002-05-23	2002-05-24		ENSG00000126746		"""Zinc fingers, C2H2-type"""	11955	protein-coding gene	gene with protein product		609951	"""trinucleotide repeat containing 1"""	TNRC1		9225980, 11149472	Standard	NM_001135734		Approved	CAGH1A, CIZ, NMP4, NP	uc010sfh.2	Q8TF68		ENST00000396801.3:c.1539G>A	chr12.hg19:g.6777075C>T		47.0	0.0		62.0	5.0	NM_001135734	O15407|Q7Z722|Q8N938	Silent	SNP	ENST00000396801.3	hg19	CCDS44817.1																																																																																			.	C|1.000;|0.000		0.667	ZNF384-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400712.1		
KMT2D	8085	hgsc.bcm.edu	37	12	49426793	49426793	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:49426793G>A	ENST00000301067.7	-	39	11694	c.11695C>T	c.(11695-11697)Cag>Tag	p.Q3899*	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3899	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										tgctgAAGCTGCTGTAAAGAG	0.562																																					p.Q3899X		Atlas-SNP	.											.	MLL2	1173	.	0			c.C11695T						.						15.0	19.0	18.0					12																	49426793		1788	3311	5099	SO:0001587	stop_gained	8085	exon39			GAAGCTGCTGTAA	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.11695C>T	chr12.hg19:g.49426793G>A	ENSP00000301067:p.Gln3899*	29.0	0.0		48.0	21.0	NM_003482	O14687	Nonsense_Mutation	SNP	ENST00000301067.7	hg19	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	51	18.122273	0.99899	.	.	ENSG00000167548	ENST00000301067	.	.	.	4.45	4.45	0.53987	.	0.238912	0.21796	N	0.068994	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.0607	0.86547	0.0:0.0:1.0:0.0	.	.	.	.	X	3899	.	ENSP00000301067:Q3899X	Q	-	1	0	MLL2	47713060	0.008000	0.16893	1.000000	0.80357	0.669000	0.39330	1.691000	0.37721	2.755000	0.94549	0.563000	0.77884	CAG	.	.		0.562	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
DGKA	1606	hgsc.bcm.edu	37	12	56346653	56346653	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:56346653C>G	ENST00000331886.5	+	21	2333	c.1879C>G	c.(1879-1881)Cag>Gag	p.Q627E	DGKA_ENST00000394147.1_Missense_Mutation_p.Q627E|DGKA_ENST00000551156.1_Missense_Mutation_p.Q627E|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	627					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGGGATCAACCAGGCCTTAGG	0.547																																					p.Q627E		Atlas-SNP	.											.	DGKA	70	.	0			c.C1879G						.						147.0	134.0	139.0					12																	56346653		2203	4300	6503	SO:0001583	missense	1606	exon21			ATCAACCAGGCCT	AF064767	CCDS8896.1	12q13.3	2013-01-10	2002-08-29			ENSG00000065357	2.7.1.107	"""EF-hand domain containing"""	2849	protein-coding gene	gene with protein product		125855	"""diacylglycerol kinase, alpha (80kD)"""	DAGK, DAGK1		8180475, 7959783	Standard	NM_001345		Approved	DGK-alpha	uc001sim.3	P23743		ENST00000331886.5:c.1879C>G	chr12.hg19:g.56346653C>G	ENSP00000328405:p.Gln627Glu	83.0	0.0		128.0	55.0	NM_201554	O75481|O75482|O75483|O95217|Q3ZE25|Q8IZ56|Q8N5Q2	Missense_Mutation	SNP	ENST00000331886.5	hg19	CCDS8896.1	.	.	.	.	.	.	.	.	.	.	C	1.665	-0.510526	0.04231	.	.	ENSG00000065357	ENST00000331886;ENST00000394147;ENST00000551156	D;D;D	0.84589	-1.87;-1.87;-1.87	4.91	3.99	0.46301	Diacylglycerol kinase, accessory domain (2);	1.926710	0.02344	N	0.075249	T	0.78291	0.4260	N	0.12569	0.235	0.35026	D	0.758322	B	0.15719	0.014	B	0.29440	0.102	T	0.53968	-0.8363	10	0.15952	T	0.53	.	13.2183	0.59873	0.0:0.9148:0.0:0.0852	.	627	P23743	DGKA_HUMAN	E	627	ENSP00000328405:Q627E;ENSP00000377703:Q627E;ENSP00000450359:Q627E	ENSP00000328405:Q627E	Q	+	1	0	DGKA	54632920	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	1.226000	0.32563	2.432000	0.82394	0.313000	0.20887	CAG	.	.		0.547	DGKA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407291.1		
ZFC3H1	196441	hgsc.bcm.edu	37	12	72017292	72017293	+	Missense_Mutation	DNP	TG	TG	CA			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:72017292_72017293TG>CA	ENST00000378743.3	-	24	4949_4950	c.4591_4592CA>TG	c.(4591-4593)CAt>TGt	p.H1531C		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1531					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCAATAAGATGTATGTAGGCC	0.332																																					p.H1531R|p.H1531Y		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.A4592G|c.C4591T						.																																			SO:0001583	missense	196441	exon24			ATAAGATGTATGT|TAAGATGTATGTA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4591_4592delinsCA	chr12.hg19:g.72017292_72017293delinsCA	ENSP00000368017:p.His1531Cys	111.0	0.0		175.0	65.0|64.0	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	hg19	CCDS41813.1																																																																																			.	.		0.332	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
TMTC2	160335	hgsc.bcm.edu	37	12	83289601	83289601	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:83289601A>C	ENST00000321196.3	+	3	1366	c.659A>C	c.(658-660)aAg>aCg	p.K220T	TMTC2_ENST00000548305.1_Missense_Mutation_p.K220T|TMTC2_ENST00000549919.1_Missense_Mutation_p.K214T	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	220					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTCAGAGGAAGAACTTGTCG	0.378																																					p.K220T		Atlas-SNP	.											.	TMTC2	100	.	0			c.A659C						.						95.0	94.0	94.0					12																	83289601		2203	4300	6503	SO:0001583	missense	160335	exon3			AGAGGAAGAACTT	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.659A>C	chr12.hg19:g.83289601A>C	ENSP00000322300:p.Lys220Thr	70.0	0.0		96.0	34.0	NM_152588	B2RCU7|Q8N2K8	Missense_Mutation	SNP	ENST00000321196.3	hg19	CCDS9025.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.369573	0.61624	.	.	ENSG00000179104	ENST00000321196;ENST00000548305;ENST00000549919	T;T;T	0.62639	0.67;0.01;0.56	5.84	5.84	0.93424	.	0.041493	0.85682	D	0.000000	T	0.63462	0.2513	L	0.47190	1.495	0.80722	D	1	P;B	0.47841	0.901;0.397	P;B	0.49999	0.628;0.133	T	0.58457	-0.7633	10	0.13470	T	0.59	-20.9681	16.2167	0.82231	1.0:0.0:0.0:0.0	.	220;220	Q8N394;F8VSH2	TMTC2_HUMAN;.	T	220;220;214	ENSP00000322300:K220T;ENSP00000448292:K220T;ENSP00000447609:K214T	ENSP00000322300:K220T	K	+	2	0	TMTC2	81813732	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.003000	0.63959	2.231000	0.72958	0.533000	0.62120	AAG	.	.		0.378	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
ANKRD13A	88455	hgsc.bcm.edu	37	12	110465512	110465512	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:110465512G>T	ENST00000261739.4	+	9	1052	c.886G>T	c.(886-888)Gac>Tac	p.D296Y		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	296				D -> G (in Ref. 1; AAH32833). {ECO:0000305}.		endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						CTCTGTAGCAGACAGGAACCC	0.408																																					p.D296Y		Atlas-SNP	.											.	ANKRD13A	39	.	0			c.G886T						.						114.0	116.0	115.0					12																	110465512		2203	4300	6503	SO:0001583	missense	88455	exon9			GTAGCAGACAGGA	AF064604	CCDS9140.1	12q24.12	2013-01-10	2006-06-30	2006-06-30		ENSG00000076513		"""Ankyrin repeat domain containing"""	21268	protein-coding gene	gene with protein product		615123	"""ankyrin repeat domain 13"""	ANKRD13		10508479	Standard	NM_033121		Approved	NY-REN-25	uc001tpx.3	Q8IZ07	OTTHUMG00000169314	ENST00000261739.4:c.886G>T	chr12.hg19:g.110465512G>T	ENSP00000261739:p.Asp296Tyr	83.0	0.0		130.0	62.0	NM_033121	O60736	Missense_Mutation	SNP	ENST00000261739.4	hg19	CCDS9140.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.93|18.93	3.728674|3.728674	0.69074|0.69074	.|.	.|.	ENSG00000076513|ENSG00000076513	ENST00000261738;ENST00000547639|ENST00000261739;ENST00000546476	.|T	.|0.44083	.|0.93	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	.|0.042063	.|0.85682	.|D	.|0.000000	.|T	.|0.60431	.|0.2268	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.72982	.|0.979	.|T	.|0.58364	.|-0.7649	.|10	.|0.62326	.|D	.|0.03	.|-21.5399	19.3837|19.3837	0.94548|0.94548	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|296	.|Q8IZ07	.|AN13A_HUMAN	.|Y	-1|296;67	.|ENSP00000261739:D296Y	.|ENSP00000261739:D296Y	.|D	+|+	.|1	.|0	ANKRD13A|ANKRD13A	108949895|108949895	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.728000|0.728000	0.41692|0.41692	7.029000|7.029000	0.76477|0.76477	2.830000|2.830000	0.97506|0.97506	0.655000|0.655000	0.94253|0.94253	.|GAC	.	.		0.408	ANKRD13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403430.1	NM_033121	
ANAPC7	51434	hgsc.bcm.edu	37	12	110812008	110812008	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:110812008C>T	ENST00000455511.3	-	11	1741	c.1741G>A	c.(1741-1743)Ggc>Agc	p.G581S	ANAPC7_ENST00000481473.1_5'UTR	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	581					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTGTCGCTGCCCTCCAGGTCC	0.652																																					p.G581S		Atlas-SNP	.											.	ANAPC7	68	.	0			c.G1741A						.						130.0	94.0	106.0					12																	110812008		2203	4300	6503	SO:0001583	missense	51434	exon11			CGCTGCCCTCCAG	AF191340	CCDS9145.2, CCDS44971.1	12q13.12	2013-01-10			ENSG00000196510	ENSG00000196510		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	17380	protein-coding gene	gene with protein product		606949					Standard	NM_016238		Approved	APC7	uc001tqo.2	Q9UJX3	OTTHUMG00000157009	ENST00000455511.3:c.1741G>A	chr12.hg19:g.110812008C>T	ENSP00000394394:p.Gly581Ser	47.0	0.0		59.0	30.0	NM_016238	Q96AC4|Q96GF4|Q9BU24|Q9NT16	Missense_Mutation	SNP	ENST00000455511.3	hg19	CCDS9145.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.3|28.3	4.905619|4.905619	0.92107|0.92107	.|.	.|.	ENSG00000196510|ENSG00000196510	ENST00000552087|ENST00000455511;ENST00000481473	.|T	.|0.63744	.|-0.06	5.88|5.88	5.0|5.0	0.66597|0.66597	.|.	0.095466|0.095466	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.46619|0.46619	0.1402|0.1402	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B	.|0.23891	.|0.093	.|B	.|0.21151	.|0.033	T|T	0.35025|0.35025	-0.9805|-0.9805	6|10	.|0.18710	.|T	.|0.47	-30.2176|-30.2176	15.2303|15.2303	0.73383|0.73383	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	.|581	.|Q9UJX3	.|APC7_HUMAN	E|S	130|581;155	.|ENSP00000394394:G581S	.|ENSP00000394394:G581S	G|G	-|-	2|1	0|0	ANAPC7|ANAPC7	109296391|109296391	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.487000|7.487000	0.81328|0.81328	1.502000|1.502000	0.48669|0.48669	0.561000|0.561000	0.74099|0.74099	GGG|GGC	.	.		0.652	ANAPC7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347075.3	NM_016238	
NCOR2	9612	hgsc.bcm.edu	37	12	124839467	124839467	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:124839467G>A	ENST00000405201.1	-	25	3400	c.3400C>T	c.(3400-3402)Cac>Tac	p.H1134Y	NCOR2_ENST00000356219.3_Missense_Mutation_p.H1141Y|NCOR2_ENST00000404121.2_Missense_Mutation_p.H695Y|NCOR2_ENST00000429285.2_Missense_Mutation_p.H1124Y|NCOR2_ENST00000397355.1_Missense_Mutation_p.H1125Y|NCOR2_ENST00000404621.1_Missense_Mutation_p.H1124Y			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1142					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TACGGGACGTGGAGCTGGACC	0.652																																					p.H1134Y		Atlas-SNP	.											.	NCOR2	475	.	0			c.C3400T						.						51.0	58.0	56.0					12																	124839467		2009	4152	6161	SO:0001583	missense	9612	exon27			GGACGTGGAGCTG	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3400C>T	chr12.hg19:g.124839467G>A	ENSP00000384018:p.His1134Tyr	48.0	0.0		77.0	25.0	NM_006312	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	hg19	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	G	15.74	2.923570	0.52653	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.38887	1.92;2.18;1.91;2.18;1.94;2.18;1.11	4.46	4.46	0.54185	.	0.054285	0.64402	D	0.000001	T	0.50086	0.1595	L	0.50333	1.59	0.41253	D	0.986721	D;B;D	0.58620	0.977;0.039;0.983	P;B;P	0.51453	0.551;0.021;0.67	T	0.57780	-0.7752	10	0.72032	D	0.01	-20.9257	17.0978	0.86641	0.0:0.0:1.0:0.0	.	1124;1125;1134	C9J0Q5;C9J239;C9JFD3	.;.;.	Y	1134;1124;1141;1125;1133;695;1124;1142	ENSP00000384018:H1134Y;ENSP00000384202:H1124Y;ENSP00000348551:H1141Y;ENSP00000380513:H1125Y;ENSP00000385618:H695Y;ENSP00000400281:H1124Y;ENSP00000402808:H1142Y	ENSP00000348551:H1141Y	H	-	1	0	NCOR2	123405420	1.000000	0.71417	0.752000	0.31206	0.848000	0.48234	6.703000	0.74633	2.018000	0.59344	0.407000	0.27541	CAC	.	.		0.652	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
NUPL1	9818	hgsc.bcm.edu	37	13	25895210	25895210	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr13:25895210A>T	ENST00000381736.3	+	9	1180	c.930A>T	c.(928-930)aaA>aaT	p.K310N	NUPL1_ENST00000381718.3_Missense_Mutation_p.K298N|NUPL1_ENST00000466694.1_3'UTR|NUPL1_ENST00000463407.1_Missense_Mutation_p.K310N	NM_001008564.1|NM_014089.3	NP_001008564.1|NP_054808.1	Q9BVL2	NUPL1_HUMAN	nucleoporin like 1	310	14 X 2 AA repeats of F-G.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	nucleocytoplasmic transporter activity (GO:0005487)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|stomach(1)|urinary_tract(1)	16		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244)		ACATTGACAAATTGAAAATAG	0.358																																					p.K310N	Pancreas(166;1040 2004 4560 4728 37041)|GBM(109;1045 1520 7614 9308 19618)	Atlas-SNP	.											.	NUPL1	37	.	0			c.A930T						.						106.0	109.0	108.0					13																	25895210		2203	4300	6503	SO:0001583	missense	9818	exon9			TGACAAATTGAAA	AB007870	CCDS9314.1, CCDS31949.1	13q12.12	2011-04-12			ENSG00000139496	ENSG00000139496			20261	protein-coding gene	gene with protein product		607615				9455477	Standard	NM_014089		Approved	KIAA0410	uc001uqi.3	Q9BVL2	OTTHUMG00000016608	ENST00000381736.3:c.930A>T	chr13.hg19:g.25895210A>T	ENSP00000371155:p.Lys310Asn	194.0	0.0		278.0	115.0	NM_014089	A6NI12|B4DZJ1|O43160|Q5JRG2|Q5JRG5	Missense_Mutation	SNP	ENST00000381736.3	hg19	CCDS9314.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870922	0.51695	.	.	ENSG00000139496	ENST00000381736;ENST00000381745;ENST00000313619;ENST00000463407;ENST00000381718;ENST00000381747;ENST00000394327	T;T;T;T;T	0.52057	1.27;1.26;1.27;1.23;0.68	5.94	-1.2	0.09554	.	0.041188	0.85682	D	0.000000	T	0.39064	0.1064	M	0.65498	2.005	0.50813	D	0.99989	P;B;B	0.40578	0.722;0.333;0.291	B;B;B	0.34093	0.175;0.175;0.157	T	0.41215	-0.9521	10	0.46703	T	0.11	-3.1368	11.9891	0.53166	0.4874:0.0:0.5126:0.0	.	298;310;310	A6NI12;Q9BVL2;Q9BVL2-2	.;NUPL1_HUMAN;.	N	310;298;287;310;298;310;257	ENSP00000371155:K310N;ENSP00000418555:K310N;ENSP00000371137:K298N;ENSP00000371166:K310N;ENSP00000408147:K257N	ENSP00000318459:K287N	K	+	3	2	NUPL1	24793210	0.592000	0.26832	0.790000	0.31976	0.953000	0.61014	1.000000	0.29770	-0.066000	0.12998	-0.924000	0.02725	AAA	.	.		0.358	NUPL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044228.2		
PCDH17	27253	hgsc.bcm.edu	37	13	58207758	58207758	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr13:58207758G>A	ENST00000377918.3	+	1	1104	c.1078G>A	c.(1078-1080)Gcg>Acg	p.A360T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	360	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCGCCAGGGGGCGCTGAGCGA	0.667																																					p.A360T	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											.	PCDH17	304	.	0			c.G1078A						.						42.0	44.0	43.0					13																	58207758		2203	4300	6503	SO:0001583	missense	27253	exon1			CAGGGGGCGCTGA	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1078G>A	chr13.hg19:g.58207758G>A	ENSP00000367151:p.Ala360Thr	32.0	0.0		34.0	24.0	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	hg19	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057386	0.55325	.	.	ENSG00000118946	ENST00000377918	T	0.50001	0.76	5.46	5.46	0.80206	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.40815	0.1132	N	0.02876	-0.465	0.58432	D	0.999991	D;P	0.52996	0.957;0.932	P;P	0.56865	0.709;0.808	T	0.48670	-0.9015	9	.	.	.	.	19.3194	0.94231	0.0:0.0:1.0:0.0	.	360;360	O14917-2;O14917	.;PCD17_HUMAN	T	360	ENSP00000367151:A360T	.	A	+	1	0	PCDH17	57105759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.831000	0.75324	2.588000	0.87417	0.650000	0.86243	GCG	.	.		0.667	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
DIAPH3	81624	hgsc.bcm.edu	37	13	60616914	60616914	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr13:60616914A>G	ENST00000400324.4	-	5	756	c.536T>C	c.(535-537)tTc>tCc	p.F179S	DIAPH3_ENST00000400319.1_Missense_Mutation_p.F109S|DIAPH3_ENST00000400330.1_Missense_Mutation_p.F179S|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.F168S|DIAPH3_ENST00000267215.4_Missense_Mutation_p.F179S|DIAPH3_ENST00000400320.1_Missense_Mutation_p.F133S|DIAPH3-AS1_ENST00000422052.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	179	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		CTCATGAATGAATTCCTGAGG	0.403																																					p.F179S		Atlas-SNP	.											.	DIAPH3	139	.	0			c.T536C						.						92.0	88.0	89.0					13																	60616914		1838	4088	5926	SO:0001583	missense	81624	exon5			TGAATGAATTCCT	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.536T>C	chr13.hg19:g.60616914A>G	ENSP00000383178:p.Phe179Ser	55.0	0.0		84.0	34.0	NM_001042517	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	hg19	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312323	0.81358	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65;-2.65	5.65	5.65	0.86999	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.94886	0.8347	M	0.73598	2.24	0.45979	D	0.998797	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.999;0.999;0.977	D	0.95374	0.8467	10	0.87932	D	0	.	14.8661	0.70416	1.0:0.0:0.0:0.0	.	109;133;168;179	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	S	179;179;168;133;109;168;109;133;179;179	ENSP00000383178:F179S;ENSP00000383184:F179S;ENSP00000367141:F168S;ENSP00000383173:F109S;ENSP00000383174:F133S;ENSP00000267215:F179S	ENSP00000267215:F179S	F	-	2	0	DIAPH3	59514915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.354000	0.73036	2.153000	0.67306	0.477000	0.44152	TTC	.	.		0.403	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517	
OR4N2	390429	hgsc.bcm.edu	37	14	20296045	20296045	+	Silent	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr14:20296045G>A	ENST00000315947.1	+	1	438	c.438G>A	c.(436-438)ttG>ttA	p.L146L	OR4N2_ENST00000568211.1_Silent_p.L146L	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAATGATGTTGGCTCTGTGGC	0.522																																					p.L146L		Atlas-SNP	.											.	OR4N2	125	.	0			c.G438A						.						179.0	192.0	188.0					14																	20296045		2203	4300	6503	SO:0001819	synonymous_variant	390429	exon1			GATGTTGGCTCTG		CCDS32022.1	14q11.2	2013-09-23				ENSG00000176294		"""GPCR / Class A : Olfactory receptors"""	14742	protein-coding gene	gene with protein product							Standard	NM_001004723		Approved		uc010tkv.2	Q8NGD1		ENST00000315947.1:c.438G>A	chr14.hg19:g.20296045G>A		95.0	0.0		237.0	111.0	NM_001004723	Q6IEY9|Q6IFA2	Silent	SNP	ENST00000315947.1	hg19	CCDS32022.1																																																																																			.	.		0.522	OR4N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409821.2		
REM2	161253	hgsc.bcm.edu	37	14	23355418	23355418	+	Silent	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr14:23355418C>T	ENST00000267396.4	+	4	828	c.705C>T	c.(703-705)cgC>cgT	p.R235R	REM2_ENST00000536884.1_Missense_Mutation_p.L211F	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	235					small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		ACTTGGCCCGCTCCCGGGAGG	0.567																																					p.R235R		Atlas-SNP	.											.	REM2	21	.	0			c.C705T						.						23.0	27.0	26.0					14																	23355418		1917	4121	6038	SO:0001819	synonymous_variant	161253	exon4			GGCCCGCTCCCGG		CCDS45082.1	14q11.2	2014-05-09	2006-12-14		ENSG00000139890	ENSG00000139890			20248	protein-coding gene	gene with protein product			"""RAS (RAD and GEM) like GTP binding 2"""			10727423	Standard	NM_173527		Approved	FLJ38964	uc001whf.1	Q8IYK8	OTTHUMG00000170277	ENST00000267396.4:c.705C>T	chr14.hg19:g.23355418C>T		86.0	0.0		268.0	15.0	NM_173527	B7Z5P1|Q8N8R8	Silent	SNP	ENST00000267396.4	hg19	CCDS45082.1	.	.	.	.	.	.	.	.	.	.	C	8.252	0.809124	0.16537	.	.	ENSG00000139890	ENST00000536884	T	0.39056	1.1	5.34	1.39	0.22231	.	.	.	.	.	T	0.31482	0.0798	.	.	.	0.26574	N	0.973501	B	0.14805	0.011	B	0.16722	0.016	T	0.30909	-0.9962	8	0.87932	D	0	.	6.954	0.24560	0.0:0.5882:0.1211:0.2907	.	211	B7Z5P1	.	F	211	ENSP00000442774:L211F	ENSP00000442774:L211F	L	+	1	0	REM2	22425258	0.664000	0.27457	1.000000	0.80357	0.387000	0.30353	-0.153000	0.10144	0.321000	0.23259	-0.253000	0.11424	CTC	.	.		0.567	REM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408290.1	NM_173527	
C14orf93	60686	hgsc.bcm.edu	37	14	23459032	23459032	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr14:23459032A>C	ENST00000299088.6	-	5	1432	c.1003T>G	c.(1003-1005)Tca>Gca	p.S335A	RP11-298I3.4_ENST00000556503.1_RNA|RP11-298I3.4_ENST00000555294.1_RNA|C14orf93_ENST00000397377.1_Missense_Mutation_p.S155A|C14orf93_ENST00000341470.4_Missense_Mutation_p.S335A|C14orf93_ENST00000397382.4_Missense_Mutation_p.S335A|RP11-298I3.4_ENST00000557615.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.S335A|C14orf93_ENST00000397379.3_Missense_Mutation_p.S335A	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	335						extracellular region (GO:0005576)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		TTCACTACTGAAATATTCCAA	0.413																																					p.S335A		Atlas-SNP	.											.	C14orf93	33	.	0			c.T1003G						.						89.0	86.0	87.0					14																	23459032		2203	4300	6503	SO:0001583	missense	60686	exon5			CTACTGAAATATT	AK023026	CCDS9583.1, CCDS61399.1, CCDS61400.1	14q11.1	2012-09-25			ENSG00000100802	ENSG00000100802			20162	protein-coding gene	gene with protein product							Standard	XM_005267971		Approved	FLJ12154	uc001wih.3	Q9H972	OTTHUMG00000028712	ENST00000299088.6:c.1003T>G	chr14.hg19:g.23459032A>C	ENSP00000299088:p.Ser335Ala	80.0	0.0		249.0	116.0	NM_021944	B7WP03|D3DS38|D3DS39|Q86SE6|Q96CF7|Q9HA68	Missense_Mutation	SNP	ENST00000299088.6	hg19	CCDS9583.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153965	0.78114	.	.	ENSG00000100802	ENST00000299088;ENST00000341470;ENST00000397379;ENST00000397382;ENST00000397377;ENST00000406429	T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41	5.85	4.69	0.59074	.	0.097947	0.44902	N	0.000406	T	0.43233	0.1238	L	0.29908	0.895	0.34975	D	0.753575	B;B	0.30146	0.202;0.27	B;B	0.32533	0.104;0.147	T	0.56147	-0.8027	10	0.87932	D	0	-27.5673	12.3485	0.55134	0.8587:0.1413:0.0:0.0	.	335;335	Q9H972;Q9H972-2	CN093_HUMAN;.	A	335;335;335;335;155;335	ENSP00000299088:S335A;ENSP00000341353:S335A;ENSP00000380535:S335A;ENSP00000380538:S335A;ENSP00000380533:S155A;ENSP00000384768:S335A	ENSP00000299088:S335A	S	-	1	0	C14orf93	22528872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.499000	0.35671	1.020000	0.39573	0.533000	0.62120	TCA	.	.		0.413	C14orf93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071688.5	NM_021944	
RABGGTA	5875	hgsc.bcm.edu	37	14	24737796	24737796	+	Silent	SNP	G	G	A	rs370715682		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr14:24737796G>A	ENST00000399409.3	-	9	1413	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_ENST00000559586.1_5'Flank|RABGGTA_ENST00000216840.6_Silent_p.N310N|RABGGTA_ENST00000560777.1_Intron	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	310					cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552																																					p.N310N		Atlas-SNP	.											.	RABGGTA	43	.	0			c.C930T						.	G	,	0,4152		0,0,2076	89.0	94.0	93.0		930,930	-0.2	1.0	14		93	1,8411		0,1,4205	no	coding-synonymous,coding-synonymous	RABGGTA	NM_004581.3,NM_182836.1	,	0,1,6281	AA,AG,GG		0.0119,0.0,0.0080	,	310/568,310/568	24737796	1,12563	2076	4206	6282	SO:0001819	synonymous_variant	5875	exon9			CTGGTCGTTGAGG		CCDS45088.1	14q11.2	2011-06-27				ENSG00000100949		"""Prenyltransferase alpha subunit repeat containing"""	9795	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 3"""	601905				8954794	Standard	NM_182836		Approved	PTAR3	uc001wog.4	Q92696		ENST00000399409.3:c.930C>T	chr14.hg19:g.24737796G>A		41.0	0.0		105.0	50.0	NM_004581	A8K5N2|D3DS69	Silent	SNP	ENST00000399409.3	hg19	CCDS45088.1																																																																																			.	.		0.552	RABGGTA-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415308.5	NM_182836	
UNC13C	440279	hgsc.bcm.edu	37	15	54306076	54306076	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:54306076G>A	ENST00000260323.11	+	1	976	c.976G>A	c.(976-978)Gtg>Atg	p.V326M	UNC13C_ENST00000545554.1_Missense_Mutation_p.V326M|UNC13C_ENST00000537900.1_Missense_Mutation_p.V326M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	326					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATTTTTAAATGTGACTGAAGA	0.363																																					p.V326M		Atlas-SNP	.											.	UNC13C	674	.	0			c.G976A						.						96.0	94.0	95.0					15																	54306076		1843	4088	5931	SO:0001583	missense	440279	exon1			TTAAATGTGACTG	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.976G>A	chr15.hg19:g.54306076G>A	ENSP00000260323:p.Val326Met	103.0	0.0		157.0	80.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.074718	0.76415	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.86230	-2.09;-2.09;-2.09	5.08	5.08	0.68730	.	.	.	.	.	D	0.89622	0.6768	L	0.27053	0.805	0.54753	D	0.999987	D	0.76494	0.999	D	0.85130	0.997	D	0.91242	0.5022	9	0.72032	D	0.01	.	17.4827	0.87677	0.0:0.0:1.0:0.0	.	326	Q8NB66	UN13C_HUMAN	M	326	ENSP00000260323:V326M;ENSP00000438156:V326M;ENSP00000442569:V326M	ENSP00000260323:V326M	V	+	1	0	UNC13C	52093368	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.785000	0.99042	2.343000	0.79666	0.655000	0.94253	GTG	.	.		0.363	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
PARP16	54956	hgsc.bcm.edu	37	15	65559101	65559101	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:65559101T>A	ENST00000261888.6	-	3	763	c.318A>T	c.(316-318)gaA>gaT	p.E106D	PARP16_ENST00000444347.2_Intron|PARP16_ENST00000558873.1_5'UTR	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	106	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell death (GO:0060548)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum tubular network (GO:0071782)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)	kinase binding (GO:0019900)|NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|protein serine/threonine kinase activator activity (GO:0043539)			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TTTGGATCTTTTCAAACTTGA	0.443																																					p.E106D	NSCLC(50;885 1163 13509 21242 41978)	Atlas-SNP	.											.	PARP16	23	.	0			c.A318T						.						44.0	45.0	44.0					15																	65559101		2201	4299	6500	SO:0001583	missense	54956	exon3			GATCTTTTCAAAC	AK000516	CCDS10204.1	15q22.2	2010-02-16	2004-08-25	2004-08-25	ENSG00000138617	ENSG00000138617		"""Poly (ADP-ribose) polymerases"""	26040	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 30"""	C15orf30		15273990	Standard	NM_017851		Approved	FLJ20509, FLJ25281, pART15	uc002aoq.3	Q8N5Y8	OTTHUMG00000133138	ENST00000261888.6:c.318A>T	chr15.hg19:g.65559101T>A	ENSP00000261888:p.Glu106Asp	96.0	0.0		147.0	58.0	NM_017851	Q6PK64|Q9NX03	Missense_Mutation	SNP	ENST00000261888.6	hg19	CCDS10204.1	.	.	.	.	.	.	.	.	.	.	T	10.65	1.409134	0.25378	.	.	ENSG00000138617	ENST00000261888	T	0.14893	2.47	5.58	1.81	0.25067	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.295240	0.37348	N	0.002132	T	0.06826	0.0174	N	0.11313	0.125	0.80722	D	1	B;B	0.16166	0.012;0.016	B;B	0.20955	0.019;0.032	T	0.25847	-1.0120	10	0.23891	T	0.37	-19.2437	3.0532	0.06175	0.0:0.337:0.2388:0.4242	.	106;106	Q8N5Y8-3;Q8N5Y8	.;PAR16_HUMAN	D	106	ENSP00000261888:E106D	ENSP00000261888:E106D	E	-	3	2	PARP16	63346154	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	0.805000	0.27112	0.972000	0.38314	0.379000	0.24179	GAA	.	.		0.443	PARP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256827.2	NM_017851	
DENND4A	10260	hgsc.bcm.edu	37	15	66015255	66015255	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:66015255T>C	ENST00000431932.2	-	12	1727	c.1519A>G	c.(1519-1521)Ata>Gta	p.I507V	DENND4A_ENST00000443035.3_Missense_Mutation_p.I507V	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	507					positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						TTTGGAAGTATCTTCCAGGCT	0.323																																					p.I507V		Atlas-SNP	.											.	DENND4A	217	.	0			c.A1519G						.						107.0	91.0	96.0					15																	66015255		1803	4064	5867	SO:0001583	missense	10260	exon12			GAAGTATCTTCCA	AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.1519A>G	chr15.hg19:g.66015255T>C	ENSP00000396830:p.Ile507Val	55.0	0.0		92.0	30.0	NM_001144823	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	ENST00000431932.2	hg19	CCDS45285.1	.	.	.	.	.	.	.	.	.	.	T	17.23	3.336467	0.60963	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.04970	3.52;3.53	5.12	3.99	0.46301	.	0.198286	0.52532	D	0.000078	T	0.17450	0.0419	L	0.53249	1.67	0.58432	D	0.999995	B;D;D	0.67145	0.006;0.996;0.988	B;D;D	0.77557	0.008;0.99;0.968	T	0.00998	-1.1486	10	0.31617	T	0.26	.	11.1857	0.48655	0.0:0.0733:0.0:0.9267	.	507;507;507	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	V	507	ENSP00000391167:I507V;ENSP00000396830:I507V	ENSP00000396830:I507V	I	-	1	0	DENND4A	63802309	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.767000	0.47637	0.881000	0.35993	0.533000	0.62120	ATA	.	.		0.323	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419611.1	NM_005848	
MAN2C1	4123	hgsc.bcm.edu	37	15	75660501	75660501	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:75660501C>A	ENST00000267978.5	-	2	186	c.140G>T	c.(139-141)aGc>aTc	p.S47I	MAN2C1_ENST00000565683.1_Missense_Mutation_p.S47I|MAN2C1_ENST00000563622.1_Missense_Mutation_p.S47I|MAN2C1_ENST00000569482.1_Missense_Mutation_p.S47I|MAN2C1_ENST00000563539.1_5'UTR|RP11-817O13.8_ENST00000563278.1_lincRNA	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	47					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CGTCAGGAAGCTGGAGAGCAC	0.701																																					p.S47I		Atlas-SNP	.											.	MAN2C1	76	.	0			c.G140T						.						8.0	11.0	10.0					15																	75660501		2147	4226	6373	SO:0001583	missense	4123	exon2			AGGAAGCTGGAGA	AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.140G>T	chr15.hg19:g.75660501C>A	ENSP00000267978:p.Ser47Ile	93.0	0.0		141.0	69.0	NM_001256494	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	hg19	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	C	10.88	1.474139	0.26423	.	.	ENSG00000140400	ENST00000267978;ENST00000421803	T	0.16743	2.32	5.11	4.19	0.49359	.	0.331114	0.32868	N	0.005545	T	0.08447	0.0210	N	0.14661	0.345	0.33651	D	0.608456	B;B;B	0.28470	0.213;0.212;0.136	B;B;B	0.26202	0.067;0.03;0.03	T	0.17471	-1.0368	10	0.22706	T	0.39	-14.3641	6.8949	0.24251	0.0:0.8067:0.0:0.1933	.	47;47;47	B4DH23;Q68EM8;Q9NTJ4	.;.;MA2C1_HUMAN	I	47	ENSP00000267978:S47I	ENSP00000267978:S47I	S	-	2	0	MAN2C1	73447554	1.000000	0.71417	0.995000	0.50966	0.221000	0.24807	1.150000	0.31639	2.366000	0.80165	0.491000	0.48974	AGC	.	.		0.701	MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1		
CHSY1	22856	hgsc.bcm.edu	37	15	101718463	101718463	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:101718463C>G	ENST00000254190.3	-	3	2014	c.1539G>C	c.(1537-1539)aaG>aaC	p.K513N	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	513					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGGACGAGCTTCTTCAGGG	0.468																																					p.K513N		Atlas-SNP	.											.	CHSY1	60	.	0			c.G1539C						.						92.0	98.0	96.0					15																	101718463		2203	4300	6503	SO:0001583	missense	22856	exon3			GACGAGCTTCTTC	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.1539G>C	chr15.hg19:g.101718463C>G	ENSP00000254190:p.Lys513Asn	42.0	0.0		76.0	44.0	NM_014918	Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	hg19	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	2.634	-0.285615	0.05605	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	T	0.35236	1.32	5.8	3.93	0.45458	.	0.196582	0.49916	N	0.000131	T	0.18551	0.0445	N	0.02916	-0.46	0.38310	D	0.943234	B	0.28470	0.213	B	0.35770	0.21	T	0.12116	-1.0560	10	0.17369	T	0.5	-44.7939	12.4709	0.55785	0.0:0.865:0.0:0.135	.	513	Q86X52	CHSS1_HUMAN	N	513;241	ENSP00000254190:K513N	ENSP00000254190:K513N	K	-	3	2	CHSY1	99535986	1.000000	0.71417	0.995000	0.50966	0.344000	0.29017	3.871000	0.56077	0.798000	0.33994	0.655000	0.94253	AAG	.	.		0.468	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918	
MVP	9961	hgsc.bcm.edu	37	16	29859235	29859235	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr16:29859235G>T	ENST00000357402.5	+	15	2745	c.2607G>T	c.(2605-2607)ggG>ggT	p.G869G	MVP_ENST00000395353.1_Silent_p.G869G	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	869					cell proliferation (GO:0008283)|ERBB signaling pathway (GO:0038127)|mRNA transport (GO:0051028)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of protein tyrosine kinase activity (GO:0061099)|negative regulation of signaling (GO:0023057)|protein activation cascade (GO:0072376)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CCAGCCCTGGGGAGGGGATAT	0.612																																					p.G869G		Atlas-SNP	.											.	MVP	80	.	0			c.G2607T						.						50.0	53.0	52.0					16																	29859235		2197	4300	6497	SO:0001819	synonymous_variant	9961	exon15			CCCTGGGGAGGGG	X79882	CCDS10656.1	16p11.2	2012-04-25			ENSG00000013364	ENSG00000013364			7531	protein-coding gene	gene with protein product	"""lung resistance-related protein"""	605088				7585126	Standard	NM_005115		Approved	LRP, VAULT1	uc002dui.3	Q14764	OTTHUMG00000048227	ENST00000357402.5:c.2607G>T	chr16.hg19:g.29859235G>T		62.0	0.0		100.0	40.0	NM_017458	Q96BG4|Q9BPW6|Q9BQT1|Q9UBD1	Silent	SNP	ENST00000357402.5	hg19	CCDS10656.1																																																																																			.	.		0.612	MVP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109711.3	NM_005115	
CYBA	1535	hgsc.bcm.edu	37	16	88713512	88713512	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr16:88713512C>T	ENST00000261623.3	-	3	338	c.200G>A	c.(199-201)cGc>cAc	p.R67H	CYBA_ENST00000567174.1_Missense_Mutation_p.R67H|CYBA_ENST00000561972.1_5'Flank|CYBA_ENST00000569359.1_Missense_Mutation_p.R67H	NM_000101.3	NP_000092.2	P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	67					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)|cellular response to amino acid stimulus (GO:0071230)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|cytochrome complex assembly (GO:0017004)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|negative regulation of glomerular filtration by angiotensin (GO:0003106)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|positive regulation of cell growth (GO:0030307)|positive regulation of endothelial cell proliferation (GO:0001938)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|response to nutrient levels (GO:0031667)|smooth muscle hypertrophy (GO:0014895)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|secretory granule (GO:0030141)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|SH3 domain binding (GO:0017124)|superoxide-generating NADPH oxidase activity (GO:0016175)			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)	Dextromethorphan(DB00514)	GACTCACCAGCGCTCCATGGT	0.642																																					p.R67H		Atlas-SNP	.											.	CYBA	12	.	0			c.G200A						.						34.0	30.0	32.0					16																	88713512		2198	4300	6498	SO:0001583	missense	1535	exon3			CACCAGCGCTCCA		CCDS32504.1	16q24	2014-09-17				ENSG00000051523		"""Cytochrome b genes"""	2577	protein-coding gene	gene with protein product	"""flavocytochrome b-558 alpha polypeptide"""	608508				2243141	Standard	NM_000101		Approved	p22-PHOX	uc002flb.4	P13498		ENST00000261623.3:c.200G>A	chr16.hg19:g.88713512C>T	ENSP00000261623:p.Arg67His	27.0	0.0		18.0	12.0	NM_000101	Q14090|Q9BR72	Missense_Mutation	SNP	ENST00000261623.3	hg19	CCDS32504.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135334	0.94517	.	.	ENSG00000051523	ENST00000261623	D	0.90324	-2.65	4.61	4.61	0.57282	.	0.107163	0.64402	D	0.000018	D	0.95494	0.8536	M	0.84433	2.695	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.96249	0.9182	10	0.87932	D	0	.	15.1962	0.73092	0.0:1.0:0.0:0.0	.	3;67	B4DT46;P13498	.;CY24A_HUMAN	H	67	ENSP00000261623:R67H	ENSP00000261623:R67H	R	-	2	0	CYBA	87241013	1.000000	0.71417	0.993000	0.49108	0.960000	0.62799	5.657000	0.67996	2.107000	0.64212	0.549000	0.68633	CGC	.	.		0.642	CYBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422765.1	NM_000101	
TRPV3	162514	hgsc.bcm.edu	37	17	3417211	3417211	+	Silent	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr17:3417211C>T	ENST00000576742.1	-	18	2694	c.2373G>A	c.(2371-2373)taG>taA	p.*791*	TRPV3_ENST00000301365.4_Silent_p.*792*|SPATA22_ENST00000541913.1_5'Flank	NM_001258205.1|NM_145068.3	NP_001245134.1|NP_659505.1	Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	0					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|negative regulation of hair cycle (GO:0042636)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium channel activity (GO:0005262)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGTTCCGCTTCTACACCGAGG	0.537																																					p.X792X		Atlas-SNP	.											.	TRPV3	85	.	0			c.G2376A						.						113.0	102.0	106.0					17																	3417211		2203	4300	6503	SO:0001819	synonymous_variant	162514	exon18			CCGCTTCTACACC	AF514998	CCDS11029.1, CCDS58500.1	17p13.3	2013-01-10			ENSG00000167723	ENSG00000167723		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18084	protein-coding gene	gene with protein product		607066				12016205, 12077606, 16382100	Standard	NM_001258205		Approved	VRL3	uc002fvr.3	Q8NET8	OTTHUMG00000090695	ENST00000576742.1:c.2373G>A	chr17.hg19:g.3417211C>T		51.0	0.0		50.0	41.0	NM_001258205	Q8NDW7|Q8NET9|Q8NFH2	Silent	SNP	ENST00000576742.1	hg19	CCDS11029.1																																																																																			.	.		0.537	TRPV3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207379.2	NM_145068	
ANKFY1	51479	hgsc.bcm.edu	37	17	4111281	4111281	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr17:4111281T>C	ENST00000341657.4	-	6	714	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E	ANKFY1_ENST00000433651.1_Missense_Mutation_p.K227E|ANKFY1_ENST00000570535.1_Missense_Mutation_p.K269E|ANKFY1_ENST00000574367.1_Missense_Mutation_p.K227E	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	227					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CTCTCCACTTTGATGGCTTTA	0.448																																					p.K269E		Atlas-SNP	.											.	ANKFY1	81	.	0			c.A805G						.						196.0	186.0	189.0					17																	4111281		1918	4132	6050	SO:0001583	missense	51479	exon6			CCACTTTGATGGC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.679A>G	chr17.hg19:g.4111281T>C	ENSP00000343362:p.Lys227Glu	67.0	0.0		65.0	44.0	NM_001257999	A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	ENST00000341657.4	hg19		.	.	.	.	.	.	.	.	.	.	T	16.95	3.264619	0.59431	.	.	ENSG00000185722	ENST00000341657;ENST00000535427;ENST00000433651	T;T	0.53423	0.62;0.66	5.58	4.43	0.53597	Ankyrin repeat-containing domain (3);	0.116434	0.64402	D	0.000020	T	0.28896	0.0717	N	0.12502	0.225	0.54753	D	0.999987	P;P;B;B;B	0.39480	0.675;0.622;0.01;0.185;0.288	B;B;B;B;B	0.36666	0.23;0.164;0.006;0.05;0.079	T	0.11591	-1.0581	10	0.32370	T	0.25	-20.6206	13.2594	0.60097	0.0:0.0:0.1409:0.8591	.	168;227;227;227;269	F5H754;Q9P2R3-3;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;.;ANFY1_HUMAN;.;.	E	227;168;227	ENSP00000343362:K227E;ENSP00000416005:K227E	ENSP00000343362:K227E	K	-	1	0	ANKFY1	4058030	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	6.151000	0.71806	2.131000	0.65755	0.533000	0.62120	AAA	.	.		0.448	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1	NM_016376	
MYH4	4622	hgsc.bcm.edu	37	17	10350423	10350423	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr17:10350423G>T	ENST00000255381.2	-	35	5186	c.5076C>A	c.(5074-5076)ctC>ctA	p.L1692L	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1692					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGATGCCCTGAGCTCTTCAA	0.517																																					p.L1692L		Atlas-SNP	.											.	MYH4	349	.	0			c.C5076A						.						174.0	138.0	150.0					17																	10350423		2203	4300	6503	SO:0001819	synonymous_variant	4622	exon35			TGCCCTGAGCTCT		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.5076C>A	chr17.hg19:g.10350423G>T		55.0	0.0		81.0	35.0	NM_017533		Silent	SNP	ENST00000255381.2	hg19	CCDS11154.1																																																																																			.	.		0.517	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
MYH4	4622	hgsc.bcm.edu	37	17	10363541	10363541	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr17:10363541G>T	ENST00000255381.2	-	13	1355	c.1245C>A	c.(1243-1245)acC>acA	p.T415T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428																																					p.T415T		Atlas-SNP	.											.	MYH4	349	.	0			c.C1245A						.						122.0	111.0	115.0					17																	10363541		2203	4300	6503	SO:0001819	synonymous_variant	4622	exon13			GCCTTTGGTTACG		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1245C>A	chr17.hg19:g.10363541G>T		104.0	0.0		169.0	69.0	NM_017533		Silent	SNP	ENST00000255381.2	hg19	CCDS11154.1																																																																																			.	.		0.428	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533	
SAMD14	201191	hgsc.bcm.edu	37	17	48194991	48194991	+	Silent	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr17:48194991C>A	ENST00000330175.4	-	4	596	c.279G>T	c.(277-279)ccG>ccT	p.P93P	SAMD14_ENST00000503131.1_Silent_p.P93P|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	93										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGCCCCCGGCCGGGGACCCCG	0.741																																					p.P93P		Atlas-SNP	.											.	SAMD14	36	.	0			c.G279T						.						4.0	5.0	5.0					17																	48194991		1561	3449	5010	SO:0001819	synonymous_variant	201191	exon4			CCCGGCCGGGGAC		CCDS11560.1, CCDS58562.1	17q21.33	2013-01-10				ENSG00000167100		"""Sterile alpha motif (SAM) domain containing"""	27312	protein-coding gene	gene with protein product						8619474	Standard	NM_174920		Approved	FLJ36890	uc002iqg.4	Q8IZD0		ENST00000330175.4:c.279G>T	chr17.hg19:g.48194991C>A		51.0	0.0		80.0	31.0	NM_001257359	A5D8V1|Q8N2X0	Silent	SNP	ENST00000330175.4	hg19	CCDS58562.1																																																																																			.	.		0.741	SAMD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366661.1	NM_174920	
FBN3	84467	hgsc.bcm.edu	37	19	8196466	8196466	+	Silent	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:8196466G>A	ENST00000600128.1	-	15	2376	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	FBN3_ENST00000270509.2_Silent_p.P654P|FBN3_ENST00000601739.1_Silent_p.P654P			Q75N90	FBN3_HUMAN	fibrillin 3	654	TB 3.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AAAGCTGGCAGGGCTCCCCAA	0.637																																					p.P654P		Atlas-SNP	.											.	FBN3	300	.	0			c.C1962T						.						58.0	63.0	61.0					19																	8196466		2203	4300	6503	SO:0001819	synonymous_variant	84467	exon14			CTGGCAGGGCTCC		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.1962C>T	chr19.hg19:g.8196466G>A		99.0	0.0		128.0	44.0	NM_032447	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	hg19	CCDS12196.1																																																																																			.	.		0.637	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
MUC16	94025	hgsc.bcm.edu	37	19	9083169	9083169	+	Silent	SNP	A	A	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:9083169A>T	ENST00000397910.4	-	1	8849	c.8646T>A	c.(8644-8646)acT>acA	p.T2882T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2883	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATCCCCCAAGTTGGGGGAG	0.527																																					p.T2882T		Atlas-SNP	.											.	MUC16	4315	.	0			c.T8646A						.						63.0	59.0	60.0					19																	9083169		1918	4137	6055	SO:0001819	synonymous_variant	94025	exon1			CCCCCAAGTTGGG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.8646T>A	chr19.hg19:g.9083169A>T		147.0	0.0		212.0	97.0	NM_024690	Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	hg19	CCDS54212.1																																																																																			.	.		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
BEST2	54831	hgsc.bcm.edu	37	19	12865364	12865364	+	Splice_Site	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:12865364A>G	ENST00000549706.1	+	4	571		c.e4-1		BEST2_ENST00000042931.1_Splice_Site|BEST2_ENST00000553030.1_Splice_Site			Q8NFU1	BEST2_HUMAN	bestrophin 2						chloride transmembrane transport (GO:1902476)|membrane depolarization (GO:0051899)|sensory perception of smell (GO:0007608)	chloride channel complex (GO:0034707)|cilium (GO:0005929)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCTCCCCTGCAGGCTTTTATG	0.662																																					.		Atlas-SNP	.											.	BEST2	35	.	0			c.248-2A>G						.						13.0	13.0	13.0					19																	12865364		1979	4160	6139	SO:0001630	splice_region_variant	54831	exon3			CCCTGCAGGCTTT	AF440756	CCDS42506.1	19p13.13	2014-08-12	2006-10-18	2006-10-18	ENSG00000039987	ENSG00000039987		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	17107	protein-coding gene	gene with protein product		607335	"""vitelliform macular dystrophy 2-like 1"""	VMD2L1		12032738, 16912113	Standard	NM_017682		Approved	FLJ20132	uc002mux.3	Q8NFU1	OTTHUMG00000169293	ENST00000549706.1:c.248-1A>G	chr19.hg19:g.12865364A>G		40.0	0.0		65.0	29.0	NM_017682	Q53YQ8|Q9NXP0	Splice_Site	SNP	ENST00000549706.1	hg19	CCDS42506.1	.	.	.	.	.	.	.	.	.	.	A	10.77	1.445309	0.25987	.	.	ENSG00000039987	ENST00000549706;ENST00000553030;ENST00000042931	.	.	.	4.41	4.41	0.53225	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9116	0.58182	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BEST2	12726364	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	9.143000	0.94623	1.763000	0.52060	0.379000	0.24179	.	.	.		0.662	BEST2-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403343.1	NM_017682	Intron
UNC13A	23025	hgsc.bcm.edu	37	19	17738725	17738725	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:17738725G>T	ENST00000519716.2	-	32	3777	c.3778C>A	c.(3778-3780)Caa>Aaa	p.Q1260K	UNC13A_ENST00000428389.2_Missense_Mutation_p.Q1348K|UNC13A_ENST00000252773.7_Missense_Mutation_p.Q1260K|UNC13A_ENST00000550896.1_Missense_Mutation_p.Q1258K|UNC13A_ENST00000552293.1_Missense_Mutation_p.Q1260K|UNC13A_ENST00000551649.1_Missense_Mutation_p.Q1260K	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1260					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTAGCTGTTGAGTGTTATTC	0.612																																					p.Q1260K		Atlas-SNP	.											UNC13A_ENST00000519716,NS,carcinoma,0,2	UNC13A	299	.	0			c.C3778A						.						647.0	577.0	600.0					19																	17738725		2012	4180	6192	SO:0001583	missense	23025	exon31			GCTGTTGAGTGTT	AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3778C>A	chr19.hg19:g.17738725G>T	ENSP00000429562:p.Gln1260Lys	19.0	0.0		29.0	11.0	NM_001080421	E5RHY9	Missense_Mutation	SNP	ENST00000519716.2	hg19	CCDS46013.2	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533519	0.64972	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	T;T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91;-0.91	3.68	3.68	0.42216	.	0.140928	0.48767	U	0.000165	T	0.79724	0.4495	M	0.82630	2.6	0.53005	D	0.999965	P	0.51653	0.947	P	0.48089	0.566	D	0.84046	0.0367	10	0.87932	D	0	.	12.9701	0.58508	0.0:0.0:1.0:0.0	.	1260	Q9UPW8	UN13A_HUMAN	K	1260;1348;1260;1260;1260;1258	ENSP00000429562:Q1260K;ENSP00000400409:Q1348K;ENSP00000252773:Q1260K;ENSP00000447236:Q1260K;ENSP00000447572:Q1260K;ENSP00000446831:Q1258K	ENSP00000252773:Q1260K	Q	-	1	0	UNC13A	17599725	1.000000	0.71417	1.000000	0.80357	0.536000	0.34869	9.633000	0.98432	1.616000	0.50265	0.306000	0.20318	CAA	.	.		0.612	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000376169.2	XM_038604	
FCHO1	23149	hgsc.bcm.edu	37	19	17883504	17883504	+	Silent	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:17883504A>G	ENST00000596536.1	+	11	1027	c.744A>G	c.(742-744)ctA>ctG	p.L248L	FCHO1_ENST00000600676.1_Silent_p.L248L|FCHO1_ENST00000595033.1_Silent_p.L198L|FCHO1_ENST00000594202.1_Silent_p.L248L|FCHO1_ENST00000389133.4_Silent_p.L248L|FCHO1_ENST00000596951.1_Silent_p.L248L|FCHO1_ENST00000252771.7_Silent_p.L248L|FCHO1_ENST00000597512.1_Silent_p.L255L|FCHO1_ENST00000539407.1_Silent_p.L248L	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	248	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGGAGATGCTACTCAGGAAGT	0.607																																					p.L248L		Atlas-SNP	.											.	FCHO1	69	.	0			c.A744G						.						103.0	91.0	95.0					19																	17883504		2203	4300	6503	SO:0001819	synonymous_variant	23149	exon10			GATGCTACTCAGG	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.744A>G	chr19.hg19:g.17883504A>G		93.0	0.0		128.0	47.0	NM_001161358	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Silent	SNP	ENST00000596536.1	hg19	CCDS32955.1																																																																																			.	.		0.607	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466946.2	NM_015122	
HKR1	284459	hgsc.bcm.edu	37	19	37853629	37853629	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:37853629C>T	ENST00000324411.4	+	6	1201	c.932C>T	c.(931-933)aCg>aTg	p.T311M	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.T292M|HKR1_ENST00000541583.2_Missense_Mutation_p.T250M|HKR1_ENST00000544914.1_Missense_Mutation_p.T38M|HKR1_ENST00000591471.1_Missense_Mutation_p.T38M|HKR1_ENST00000589392.1_Missense_Mutation_p.T293M	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	311					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)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGCTTTACGTGGAAGTCA	0.507																																					p.T311M		Atlas-SNP	.											.	HKR1	74	.	0			c.C932T						.						99.0	92.0	94.0					19																	37853629		2203	4300	6503	SO:0001583	missense	284459	exon6			GCTTTACGTGGAA	M20675	CCDS12502.1	19q13.13	2013-01-08	2010-05-04			ENSG00000181666		"""Zinc fingers, C2H2-type"", ""-"""	4928	protein-coding gene	gene with protein product	"""oncogene HKR1"""	165250	"""GLI-Kruppel family member HKR1"""			2850480, 9813242	Standard	NM_181786		Approved	ZNF875	uc002ogb.3	P10072		ENST00000324411.4:c.932C>T	chr19.hg19:g.37853629C>T	ENSP00000315505:p.Thr311Met	98.0	0.0		114.0	48.0	NM_181786	A8MRS7|Q6PJD0|Q9BSW9|Q9UM09	Missense_Mutation	SNP	ENST00000324411.4	hg19	CCDS12502.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.263720	0.39995	.	.	ENSG00000181666	ENST00000544914;ENST00000392153;ENST00000542144;ENST00000324411;ENST00000541583	T;T;T;T	0.34667	1.35;1.35;1.35;1.35	3.37	0.927	0.19437	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46268	0.1384	L	0.52759	1.655	0.42482	D	0.992865	D;P;D;D	0.76494	0.999;0.625;0.997;0.997	D;B;D;P	0.67725	0.953;0.119;0.931;0.765	T	0.45160	-0.9280	9	0.72032	D	0.01	-3.7279	7.0879	0.25267	0.3273:0.5229:0.1498:0.0	.	250;292;311;293	Q7Z6E1;P10072-2;P10072;B4DSY3	.;.;HKR1_HUMAN;.	M	38;292;347;311;250	ENSP00000437774:T38M;ENSP00000375994:T292M;ENSP00000315505:T311M;ENSP00000438261:T250M	ENSP00000315505:T311M	T	+	2	0	HKR1	42545469	0.000000	0.05858	0.998000	0.56505	0.995000	0.86356	-3.352000	0.00501	0.710000	0.31997	0.650000	0.86243	ACG	.	.		0.507	HKR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458375.1	NM_181786	
SIRT2	22933	hgsc.bcm.edu	37	19	39371780	39371780	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:39371780C>T	ENST00000249396.7	-	11	1008	c.707G>A	c.(706-708)gGt>gAt	p.G236D	RINL_ENST00000340740.3_5'Flank|RINL_ENST00000591812.1_5'Flank|SIRT2_ENST00000358931.5_Missense_Mutation_p.G236D|SIRT2_ENST00000392081.2_Missense_Mutation_p.G199D	NM_012237.3	NP_036369.2	Q8IXJ6	SIR2_HUMAN	sirtuin 2	236	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.|Peptide inhibitor binding.				autophagy (GO:0006914)|cellular lipid catabolic process (GO:0044242)|cellular response to caloric restriction (GO:0061433)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to hypoxia (GO:0071456)|cellular response to molecule of bacterial origin (GO:0071219)|cellular response to oxidative stress (GO:0034599)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|chromatin silencing at telomere (GO:0006348)|gene silencing (GO:0016458)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|innate immune response (GO:0045087)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|myelination in peripheral nervous system (GO:0022011)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)|negative regulation of defense response to bacterium (GO:1900425)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of oligodendrocyte progenitor proliferation (GO:0070446)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of attachment of spindle microtubules to kinetochore (GO:0051987)|positive regulation of cell division (GO:0051781)|positive regulation of DNA binding (GO:0043388)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of meiosis (GO:0045836)|positive regulation of oocyte maturation (GO:1900195)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process involved in cellular response to hypoxia (GO:2000777)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)|protein kinase B signaling (GO:0043491)|regulation of cell cycle (GO:0051726)|regulation of exit from mitosis (GO:0007096)|regulation of myelination (GO:0031641)|regulation of phosphorylation (GO:0042325)|response to redox state (GO:0051775)|ripoptosome assembly involved in necroptotic process (GO:1901026)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)	centriole (GO:0005814)|centrosome (GO:0005813)|chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|glial cell projection (GO:0097386)|juxtaparanode region of axon (GO:0044224)|lateral loop (GO:0043219)|meiotic spindle (GO:0072687)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|myelin sheath (GO:0043209)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|spindle (GO:0005819)	chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|NAD-dependent protein deacetylase activity (GO:0034979)|protein deacetylase activity (GO:0033558)|transcription factor binding (GO:0008134)|tubulin deacetylase activity (GO:0042903)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GAGGCTCTCACCAAAAAAGAC	0.622																																					p.G236D		Atlas-SNP	.											.	SIRT2	29	.	0			c.G707A						.						79.0	72.0	74.0					19																	39371780		2203	4300	6503	SO:0001583	missense	22933	exon11			CTCTCACCAAAAA	AF083107	CCDS12523.1, CCDS46069.1, CCDS74361.1	19q13	2010-06-25	2010-06-25		ENSG00000068903	ENSG00000068903			10886	protein-coding gene	gene with protein product		604480	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 2"", ""sirtuin (silent mating type information regulation 2 homolog) 2 (S. cerevisiae)"""	SIR2L		10393250, 10381378	Standard	NM_012237		Approved		uc002ojt.2	Q8IXJ6	OTTHUMG00000150480	ENST00000249396.7:c.707G>A	chr19.hg19:g.39371780C>T	ENSP00000249396:p.Gly236Asp	115.0	0.0		136.0	18.0	NM_012237	A8K3V1|B2RB45|O95889|Q924Y7|Q9P0G8|Q9UNT0|Q9Y6E9|U5TP13	Missense_Mutation	SNP	ENST00000249396.7	hg19	CCDS12523.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.205605	0.79127	.	.	ENSG00000068903	ENST00000249396;ENST00000392081;ENST00000358931;ENST00000456703;ENST00000414941	T;T;T;T	0.76060	-0.99;-0.99;-0.99;-0.99	4.96	4.96	0.65561	.	0.126864	0.52532	D	0.000076	D	0.89729	0.6799	M	0.94021	3.485	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;1.0;1.0	D	0.92577	0.6071	10	0.87932	D	0	-11.8713	16.9718	0.86302	0.0:1.0:0.0:0.0	.	236;199;236;216	Q8IXJ6-4;Q8IXJ6-2;Q8IXJ6;Q8IXJ6-3	.;.;SIRT2_HUMAN;.	D	236;199;236;221;199	ENSP00000249396:G236D;ENSP00000375931:G199D;ENSP00000351809:G236D;ENSP00000404309:G199D	ENSP00000249396:G236D	G	-	2	0	SIRT2	44063620	1.000000	0.71417	0.608000	0.28969	0.515000	0.34225	6.598000	0.74122	2.304000	0.77564	0.511000	0.50034	GGT	.	.		0.622	SIRT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318278.1		
LIPE	3991	hgsc.bcm.edu	37	19	42910418	42910418	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:42910418G>C	ENST00000244289.4	-	7	2536	c.2260C>G	c.(2260-2262)Ccg>Gcg	p.P754A	LIPE-AS1_ENST00000594624.2_RNA|LIPE_ENST00000602000.1_5'Flank|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	754					cholesterol metabolic process (GO:0008203)|diacylglycerol catabolic process (GO:0046340)|lipid catabolic process (GO:0016042)|long-chain fatty acid catabolic process (GO:0042758)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	hormone-sensitive lipase activity (GO:0033878)|triglyceride lipase activity (GO:0004806)			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				ATTGTGGCCGGGTAGGCTGCC	0.667																																					p.P754A		Atlas-SNP	.											.	LIPE	83	.	0			c.C2260G						.						49.0	46.0	47.0					19																	42910418		2203	4300	6503	SO:0001583	missense	3991	exon7			TGGCCGGGTAGGC	L11706	CCDS12607.1	19q13.1-q13.2	2014-03-14			ENSG00000079435	ENSG00000079435	3.1.1.3		6621	protein-coding gene	gene with protein product		151750				8506334	Standard	NM_005357		Approved	HSL	uc002otr.3	Q05469	OTTHUMG00000182814	ENST00000244289.4:c.2260C>G	chr19.hg19:g.42910418G>C	ENSP00000244289:p.Pro754Ala	63.0	0.0		105.0	42.0	NM_005357	Q3LRT2|Q6NSL7	Missense_Mutation	SNP	ENST00000244289.4	hg19	CCDS12607.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.066104	0.76187	.	.	ENSG00000079435	ENST00000244289	T	0.41065	1.01	5.09	5.09	0.68999	Alpha/beta hydrolase fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.81239	2.535	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.63377	-0.6651	10	0.24483	T	0.36	-33.719	17.6625	0.88196	0.0:0.0:1.0:0.0	.	754	Q05469	LIPS_HUMAN	A	754	ENSP00000244289:P754A	ENSP00000244289:P754A	P	-	1	0	LIPE	47602258	1.000000	0.71417	0.998000	0.56505	0.897000	0.52465	8.497000	0.90488	2.531000	0.85337	0.645000	0.84053	CCG	.	.		0.667	LIPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463861.1	NM_005357	
BAX	581	hgsc.bcm.edu	37	19	49464086	49464086	+	Missense_Mutation	SNP	C	C	T	rs369660551		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:49464086C>T	ENST00000345358.7	+	5	441	c.389C>T	c.(388-390)cCg>cTg	p.P130L	BAX_ENST00000415969.2_Missense_Mutation_p.P130L|BAX_ENST00000539787.1_Missense_Mutation_p.R163W|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000293288.8_Missense_Mutation_p.P130L|BAX_ENST00000354470.3_Missense_Mutation_p.P81L	NM_138761.3|NM_138764.4	NP_620116.1|NP_620119.2	Q07812	BAX_HUMAN	BCL2-associated X protein	130					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic process involved in patterning of blood vessels (GO:1902262)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|B cell homeostatic proliferation (GO:0002358)|B cell negative selection (GO:0002352)|B cell receptor apoptotic signaling pathway (GO:1990117)|blood vessel remodeling (GO:0001974)|cellular response to organic substance (GO:0071310)|cellular response to UV (GO:0034644)|cerebral cortex development (GO:0021987)|development of secondary sexual characteristics (GO:0045136)|ectopic germ cell programmed cell death (GO:0035234)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|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)|fertilization (GO:0009566)|germ cell development (GO:0007281)|glycosphingolipid metabolic process (GO:0006687)|homeostasis of number of cells within a tissue (GO:0048873)|hypothalamus development (GO:0021854)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial fusion (GO:0008053)|mitochondrion morphogenesis (GO:0070584)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein binding (GO:0032091)|neuron apoptotic process (GO:0051402)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic DNA fragmentation (GO:1902512)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of developmental pigmentation (GO:0048087)|positive regulation of endoplasmic reticulum unfolded protein response (GO:1900103)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-embryonic camera-type eye morphogenesis (GO:0048597)|protein homooligomerization (GO:0051260)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)|protein oligomerization (GO:0051259)|regulation of cell cycle (GO:0051726)|regulation of mammary gland epithelial cell proliferation (GO:0033599)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of nitrogen utilization (GO:0006808)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|release of cytochrome c from mitochondria (GO:0001836)|release of matrix enzymes from mitochondria (GO:0032976)|response to axon injury (GO:0048678)|response to gamma radiation (GO:0010332)|response to salt stress (GO:0009651)|response to toxic substance (GO:0009636)|retina development in camera-type eye (GO:0060041)|retinal cell apoptotic process (GO:1990009)|retinal cell programmed cell death (GO:0046666)|Sertoli cell proliferation (GO:0060011)|spermatid differentiation (GO:0048515)|T cell homeostatic proliferation (GO:0001777)|thymocyte apoptotic process (GO:0070242)|transformed cell apoptotic process (GO:0006927)|vagina development (GO:0060068)|viral process (GO:0016032)	BAX complex (GO:0097144)|Bcl-2 family protein complex (GO:0097136)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrial permeability transition pore complex (GO:0005757)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	BH3 domain binding (GO:0051434)|channel activity (GO:0015267)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		ACCAAGGTGCCGGAACTGATC	0.592																																					p.P130L		Atlas-SNP	.											.	BAX	69	.	0			c.C389T						.	C	LEU/PRO,LEU/PRO,LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	110.0	95.0	100.0		389,389,242,389	2.0	0.9	19		100	0,8600		0,0,4300	no	missense,missense,missense,missense	BAX	NM_004324.3,NM_138761.3,NM_138763.3,NM_138764.4	98,98,98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	130/219,130/193,81/144,130/180	49464086	1,13005	2203	4300	6503	SO:0001583	missense	581	exon5			AGGTGCCGGAACT		CCDS12742.1, CCDS12743.1, CCDS12744.1, CCDS12745.1, CCDS12745.2	19q13.3-q13.4	2014-03-07			ENSG00000087088	ENSG00000087088			959	protein-coding gene	gene with protein product		600040				8358790	Standard	NM_138761		Approved	BCL2L4	uc002plf.1	Q07812	OTTHUMG00000160476	ENST00000345358.7:c.389C>T	chr19.hg19:g.49464086C>T	ENSP00000263262:p.Pro130Leu	53.0	0.0		86.0	32.0	NM_004324	A8K4W1|P55269|Q07814|Q07815|Q8WZ49|Q9NR76|Q9NYG7|Q9UCZ6|Q9UCZ7|Q9UQD6	Missense_Mutation	SNP	ENST00000345358.7	hg19	CCDS12742.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.362|9.362	1.068359|1.068359	0.20067|0.20067	2.27E-4|2.27E-4	0.0|0.0	ENSG00000087088|ENSG00000087088	ENST00000345358;ENST00000415969;ENST00000354470;ENST00000293288|ENST00000539787;ENST00000506183	T;T;T;T|T	0.34667|0.12039	1.35;2.73;1.35;2.73|2.72	3.1|3.1	2.03|2.03	0.26663|0.26663	Apoptosis regulator, Bcl2-like (1);Apoptosis regulator, Bcl-2, BH (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.20700|0.20700	0.0498|0.0498	L|L	0.56340|0.56340	1.77|1.77	0.80722|0.80722	D|D	1|1	P;D;D;D|.	0.71674|.	0.912;0.996;0.986;0.998|.	B;P;B;P|.	0.55577|.	0.158;0.707;0.394;0.779|.	T|T	0.01909|0.01909	-1.1249|-1.1249	10|7	0.19147|0.87932	T|D	0.46|0	-8.9341|-8.9341	8.1459|8.1459	0.31110|0.31110	0.0:0.751:0.249:0.0|0.0:0.751:0.249:0.0	.|.	81;130;130;130|.	Q07812-4;Q07812;Q07812-8;Q07812-2|.	.;BAX_HUMAN;.;.|.	L|W	130;130;81;130|163;64	ENSP00000263262:P130L;ENSP00000389971:P130L;ENSP00000346461:P81L;ENSP00000293288:P130L|ENSP00000441413:R163W	ENSP00000293288:P130L|ENSP00000348871:R163W	P|R	+|+	2|1	0|2	BAX|BAX	54155898|54155898	0.999000|0.999000	0.42202|0.42202	0.929000|0.929000	0.37066|0.37066	0.161000|0.161000	0.22273|0.22273	5.205000|5.205000	0.65186|0.65186	0.835000|0.835000	0.34877|0.34877	-0.333000|-0.333000	0.08304|0.08304	CCG|CGG	.	.		0.592	BAX-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360767.1	NM_138763	
KLK4	9622	hgsc.bcm.edu	37	19	51412004	51412004	+	Silent	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr19:51412004G>T	ENST00000324041.1	-	3	305	c.306C>A	c.(304-306)tcC>tcA	p.S102S	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_Silent_p.S53S	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GGTGCCGTACGGAGAGGCTGG	0.612																																					p.S102S		Atlas-SNP	.											.	KLK4	46	.	0			c.C306A						.						110.0	85.0	93.0					19																	51412004		2203	4300	6503	SO:0001819	synonymous_variant	9622	exon3			CCGTACGGAGAGG	AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.306C>A	chr19.hg19:g.51412004G>T		45.0	0.0		77.0	28.0	NM_004917	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	ENST00000324041.1	hg19	CCDS12809.1																																																																																			.	.		0.612	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464449.1	NM_004917	
CPXM1	56265	hgsc.bcm.edu	37	20	2775922	2775922	+	Splice_Site	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr20:2775922C>T	ENST00000380605.2	-	12	1925		c.e12+1			NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCAGATCCGACCTGCTCCAGG	0.572																																					.		Atlas-SNP	.											.	CPXM1	107	.	0			c.1860+1G>A						.						95.0	86.0	89.0					20																	2775922		2203	4300	6503	SO:0001630	splice_region_variant	56265	exon13			ATCCGACCTGCTC	AL035460	CCDS13033.1	20p13	2012-02-10	2006-08-24	2006-08-24	ENSG00000088882	ENSG00000088882			15771	protein-coding gene	gene with protein product	"""carboxypeptidase-like protein X1"""	609555	"""carboxypeptidase X (M14 family)"""	CPXM		14702039	Standard	NM_019609		Approved	CPX-1, CPX1	uc002wgu.3	Q96SM3	OTTHUMG00000031706	ENST00000380605.2:c.1860+1G>A	chr20.hg19:g.2775922C>T		62.0	0.0		98.0	45.0	NM_019609	Q6P4G8|Q6UW65|Q9NUB5	Splice_Site	SNP	ENST00000380605.2	hg19	CCDS13033.1	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422347	0.62622	.	.	ENSG00000088882	ENST00000380605;ENST00000421947	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7195	0.85406	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CPXM1	2723922	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.651000	0.83577	2.814000	0.96858	0.563000	0.77884	.	.	.		0.572	CPXM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077643.2	NM_019609	Intron
NCOA3	8202	hgsc.bcm.edu	37	20	46264396	46264396	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr20:46264396G>T	ENST00000371998.3	+	11	1634	c.1443G>T	c.(1441-1443)atG>atT	p.M481I	NCOA3_ENST00000372004.3_Missense_Mutation_p.M481I|NCOA3_ENST00000371997.3_Missense_Mutation_p.M491I|NCOA3_ENST00000341724.6_Missense_Mutation_p.M491I			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	481					androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AGAATATCATGATTTCTCCTC	0.433																																					p.M491I		Atlas-SNP	.											.	NCOA3	156	.	0			c.G1473T						.						80.0	75.0	76.0					20																	46264396		2203	4300	6503	SO:0001583	missense	8202	exon11			TATCATGATTTCT	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.1443G>T	chr20.hg19:g.46264396G>T	ENSP00000361066:p.Met481Ile	103.0	0.0		133.0	55.0	NM_001174088	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Missense_Mutation	SNP	ENST00000371998.3	hg19	CCDS13407.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643271	0.67244	.	.	ENSG00000124151	ENST00000340189;ENST00000341724;ENST00000372004;ENST00000371998;ENST00000371997;ENST00000542882	T;T;T;T	0.16324	2.35;2.35;2.35;2.35	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	M	0.78637	2.42	0.52501	D	0.999955	P;P;P;P;P;P	0.50710	0.898;0.928;0.898;0.805;0.938;0.898	P;P;P;P;P;P	0.53549	0.642;0.671;0.54;0.459;0.729;0.54	T	0.29792	-1.0000	10	0.66056	D	0.02	-4.7133	18.9045	0.92455	0.0:0.0:1.0:0.0	.	481;491;485;481;481;481	A8K0W8;Q9Y6Q9-3;Q59EE8;Q0IIN7;Q9Y6Q9-5;Q9Y6Q9	.;.;.;.;.;NCOA3_HUMAN	I	481;491;481;481;491;247	ENSP00000342123:M491I;ENSP00000361073:M481I;ENSP00000361066:M481I;ENSP00000361065:M491I	ENSP00000345671:M481I	M	+	3	0	NCOA3	45697803	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.108000	0.64609	2.459000	0.83118	0.563000	0.77884	ATG	.	.		0.433	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534	
LAMA5	3911	hgsc.bcm.edu	37	20	60898879	60898879	+	Silent	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr20:60898879G>A	ENST00000252999.3	-	44	5868	c.5802C>T	c.(5800-5802)cgC>cgT	p.R1934R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1934	Laminin EGF-like 18. {ECO:0000255|PROSITE-ProRule:PRU00460}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCACTGGGTGCGGCCGCCTC	0.677																																					p.R1934R		Atlas-SNP	.											.	LAMA5	268	.	0			c.C5802T						.						24.0	26.0	25.0					20																	60898879		2183	4287	6470	SO:0001819	synonymous_variant	3911	exon44			CTGGGTGCGGCCG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5802C>T	chr20.hg19:g.60898879G>A		94.0	0.0		137.0	56.0	NM_005560	Q8TDF8|Q8WZA7|Q9H1P1	Silent	SNP	ENST00000252999.3	hg19	CCDS33502.1																																																																																			.	.		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560	
ZGPAT	84619	hgsc.bcm.edu	37	20	62366733	62366733	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr20:62366733A>C	ENST00000328969.5	+	6	1401	c.1274A>C	c.(1273-1275)cAg>cCg	p.Q425P	LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.Q405P|ZGPAT_ENST00000448100.2_Missense_Mutation_p.Q405P|ZGPAT_ENST00000357119.4_Missense_Mutation_p.Q396P|RP4-583P15.14_ENST00000467211.1_5'Flank|RP4-583P15.15_ENST00000490623.2_Silent_p.R311R|ZGPAT_ENST00000355969.6_Missense_Mutation_p.Q405P	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	425					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CTGCAAGGTCAGGCTCCTGGG	0.667																																					p.Q425P		Atlas-SNP	.											.	ZGPAT	57	.	0			c.A1274C						.						22.0	25.0	24.0					20																	62366733		2184	4294	6478	SO:0001583	missense	84619	exon6			AAGGTCAGGCTCC	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1274A>C	chr20.hg19:g.62366733A>C	ENSP00000332013:p.Gln425Pro	96.0	0.0		135.0	53.0	NM_032527	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	hg19	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	11.54	1.670044	0.29693	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.24538	1.85;1.85;1.87;1.85;1.87	5.47	0.61	0.17580	.	0.673691	0.14239	N	0.332201	T	0.26412	0.0645	L	0.47716	1.5	0.21675	N	0.999591	P;P;P	0.51240	0.666;0.943;0.938	B;B;P	0.46975	0.277;0.424;0.533	T	0.12041	-1.0563	10	0.66056	D	0.02	-1.0295	9.2376	0.37475	0.6128:0.0:0.3872:0.0	.	396;425;405	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	P	405;405;396;405;425	ENSP00000391176:Q405P;ENSP00000348242:Q405P;ENSP00000349634:Q396P;ENSP00000358984:Q405P;ENSP00000332013:Q425P	ENSP00000332013:Q425P	Q	+	2	0	ZGPAT	61837177	0.449000	0.25689	0.004000	0.12327	0.121000	0.20230	0.873000	0.28052	-0.166000	0.10890	0.460000	0.39030	CAG	.	.		0.667	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	
ZGPAT	84619	hgsc.bcm.edu	37	20	62366751	62366751	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr20:62366751A>G	ENST00000328969.5	+	6	1419	c.1292A>G	c.(1291-1293)gAa>gGa	p.E431G	LIME1_ENST00000309546.3_5'Flank|ZGPAT_ENST00000369967.3_Missense_Mutation_p.E411G|ZGPAT_ENST00000448100.2_Missense_Mutation_p.E411G|ZGPAT_ENST00000357119.4_Missense_Mutation_p.E402G|RP4-583P15.14_ENST00000467211.1_5'Flank|RP4-583P15.15_ENST00000490623.2_Missense_Mutation_p.K317E|ZGPAT_ENST00000355969.6_Missense_Mutation_p.E411G	NM_032527.4	NP_115916.3	Q8N5A5	ZGPAT_HUMAN	zinc finger, CCCH-type with G patch domain	431					negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GGGGCCCTAGAAGCCGGGGCG	0.657																																					p.E431G		Atlas-SNP	.											.	ZGPAT	57	.	0			c.A1292G						.						18.0	22.0	21.0					20																	62366751		2186	4290	6476	SO:0001583	missense	84619	exon6			CCCTAGAAGCCGG	AK027878	CCDS13534.1, CCDS13535.1, CCDS56203.1	20q13.3	2013-01-28	2004-12-01	2004-12-01	ENSG00000197114	ENSG00000197114		"""Zinc fingers, CCCH-type domain containing"", ""G patch domain containing"""	15948	protein-coding gene	gene with protein product			"""KIAA1847"""	KIAA1847		16952911	Standard	NM_181485		Approved	dJ583P15.3, MGC44880, FLJ14972, ZC3HDC9, ZC3H9, GPATC6, GPATCH6, ZIP	uc002ygk.3	Q8N5A5	OTTHUMG00000032998	ENST00000328969.5:c.1292A>G	chr20.hg19:g.62366751A>G	ENSP00000332013:p.Glu431Gly	102.0	0.0		152.0	61.0	NM_032527	E1P5K1|Q4VXN9|Q5JWI9|Q5JWJ0|Q8NC55|Q8WUV4|Q96JI0|Q96JU4|Q9H401	Missense_Mutation	SNP	ENST00000328969.5	hg19	CCDS13534.1	.	.	.	.	.	.	.	.	.	.	A	10.37	1.331475	0.24167	.	.	ENSG00000197114	ENST00000448100;ENST00000355969;ENST00000357119;ENST00000369967;ENST00000328969	T;T;T;T;T	0.25912	1.77;1.77;1.8;1.77;1.78	5.47	5.47	0.80525	.	0.810459	0.11647	N	0.543122	T	0.25531	0.0621	L	0.56769	1.78	0.23473	N	0.997603	B;P;B	0.35745	0.313;0.518;0.313	B;B;B	0.31101	0.124;0.114;0.124	T	0.16129	-1.0413	10	0.38643	T	0.18	-31.0128	10.7781	0.46361	0.8416:0.1584:0.0:0.0	.	402;431;411	Q8N5A5-3;Q8N5A5;Q8N5A5-2	.;ZGPAT_HUMAN;.	G	411;411;402;411;431	ENSP00000391176:E411G;ENSP00000348242:E411G;ENSP00000349634:E402G;ENSP00000358984:E411G;ENSP00000332013:E431G	ENSP00000332013:E431G	E	+	2	0	ZGPAT	61837195	1.000000	0.71417	0.036000	0.18154	0.016000	0.09150	3.568000	0.53820	2.070000	0.61991	0.460000	0.39030	GAA	.	.		0.657	ZGPAT-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080214.1	NM_181484	
PCNT	5116	hgsc.bcm.edu	37	21	47783767	47783767	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr21:47783767C>T	ENST00000359568.5	+	14	2634	c.2527C>T	c.(2527-2529)Ccg>Tcg	p.P843S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	843					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGGGCGGGAGCCGCCCACAGC	0.667																																					p.P843S		Atlas-SNP	.											.	PCNT	283	.	0			c.C2527T						.						69.0	81.0	77.0					21																	47783767		2193	4280	6473	SO:0001583	missense	5116	exon14			CGGGAGCCGCCCA	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.2527C>T	chr21.hg19:g.47783767C>T	ENSP00000352572:p.Pro843Ser	82.0	0.0		80.0	34.0	NM_006031	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	hg19	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	7.170	0.587374	0.13812	.	.	ENSG00000160299	ENST00000359568	T	0.23147	1.92	4.43	0.104	0.14531	.	.	.	.	.	T	0.16811	0.0404	M	0.62723	1.935	0.19775	N	0.999956	B;P	0.39809	0.015;0.689	B;B	0.34590	0.005;0.186	T	0.19582	-1.0301	9	0.07813	T	0.8	.	2.9953	0.05996	0.262:0.3765:0.2735:0.088	.	725;843	O95613-2;O95613	.;PCNT_HUMAN	S	843	ENSP00000352572:P843S	ENSP00000352572:P843S	P	+	1	0	PCNT	46608195	0.406000	0.25344	0.196000	0.23383	0.216000	0.24613	0.632000	0.24583	0.006000	0.14734	-0.325000	0.08501	CCG	.	.		0.667	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
MICAL3	57553	hgsc.bcm.edu	37	22	18371957	18371957	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr22:18371957A>T	ENST00000441493.2	-	13	2086	c.1734T>A	c.(1732-1734)aaT>aaA	p.N578K	MICAL3_ENST00000383094.3_Missense_Mutation_p.N578K|MICAL3_ENST00000414725.2_Missense_Mutation_p.N578K|MICAL3_ENST00000400561.2_Missense_Mutation_p.N578K|MICAL3_ENST00000444520.1_Missense_Mutation_p.N578K|MICAL3_ENST00000207726.7_Missense_Mutation_p.N578K|MICAL3_ENST00000585038.1_Missense_Mutation_p.N578K|MICAL3_ENST00000429452.1_Missense_Mutation_p.N578K	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	578	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCAGTTGGTTATTCTTCTCCA	0.438																																					p.N578K		Atlas-SNP	.											.	MICAL3	53	.	0			c.T1734A						.						126.0	113.0	117.0					22																	18371957		1568	3582	5150	SO:0001583	missense	57553	exon13			TTGGTTATTCTTC	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.1734T>A	chr22.hg19:g.18371957A>T	ENSP00000416015:p.Asn578Lys	75.0	0.0		146.0	63.0	NM_015241	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	ENST00000441493.2	hg19	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195705	0.78902	.	.	ENSG00000093100;ENSG00000093100;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156;ENSG00000243156	ENST00000441493;ENST00000429452;ENST00000400561;ENST00000444520;ENST00000414725;ENST00000383094;ENST00000207726	D;D;D;D;D;D;D	0.97575	-4.44;-4.44;-4.44;-4.44;-4.44;-4.44;-4.44	5.55	2.31	0.28768	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.98648	0.9547	H	0.96080	3.765	0.50039	D	0.99984	D;D;P;D;D	0.89917	0.999;1.0;0.907;1.0;0.999	D;D;P;D;D	0.91635	0.999;0.994;0.878;0.995;0.999	D	0.98068	1.0397	10	0.51188	T	0.08	.	9.5881	0.39528	0.8071:0.0:0.1929:0.0	.	578;578;578;578;578	B2RXJ5;Q7RTP6-3;Q7RTP6-2;Q7RTP6-4;Q7RTP6	.;.;.;.;MICA3_HUMAN	K	578	ENSP00000416015:N578K;ENSP00000414846:N578K;ENSP00000383406:N578K;ENSP00000410315:N578K;ENSP00000391827:N578K;ENSP00000372574:N578K;ENSP00000207726:N578K	ENSP00000207726:N578K	N	-	3	2	XXbac-B461K10.4;MICAL3	16751957	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.567000	0.36407	0.952000	0.37798	0.533000	0.62120	AAT	.	.		0.438	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1		
ZNRF3	84133	hgsc.bcm.edu	37	22	29439309	29439309	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr22:29439309C>A	ENST00000544604.2	+	4	699	c.524C>A	c.(523-525)cCg>cAg	p.P175Q	ZNRF3_ENST00000406323.3_Missense_Mutation_p.P75Q|ZNRF3_ENST00000402174.1_Missense_Mutation_p.P75Q|ZNRF3_ENST00000332811.4_Missense_Mutation_p.P75Q	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	175					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TCTGAAGACCCGCTCAAGAGG	0.517																																					p.P175Q		Atlas-SNP	.											.	ZNRF3	75	.	0			c.C524A						.						59.0	62.0	61.0					22																	29439309		1921	4124	6045	SO:0001583	missense	84133	exon4			AAGACCCGCTCAA	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.524C>A	chr22.hg19:g.29439309C>A	ENSP00000443824:p.Pro175Gln	61.0	0.0		63.0	23.0	NM_001206998	B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	hg19	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.510296	0.85282	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.51109	0.1655	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.42982	-0.9419	10	0.33940	T	0.23	-0.5131	19.6321	0.95713	0.0:1.0:0.0:0.0	.	175	Q9ULT6	ZNRF3_HUMAN	Q	175;75;75;75	ENSP00000443824:P175Q;ENSP00000328614:P75Q;ENSP00000384456:P75Q;ENSP00000384553:P75Q	ENSP00000328614:P75Q	P	+	2	0	ZNRF3	27769309	1.000000	0.71417	0.971000	0.41717	0.653000	0.38743	7.272000	0.78516	2.884000	0.98904	0.655000	0.94253	CCG	.	.		0.517	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	
NHS	4810	hgsc.bcm.edu	37	X	17746244	17746244	+	Missense_Mutation	SNP	T	T	G	rs3747295	byFrequency	TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chrX:17746244T>G	ENST00000380060.3	+	6	4293	c.3955T>G	c.(3955-3957)Ttt>Gtt	p.F1319V	NHS_ENST00000398097.3_Missense_Mutation_p.F1163V	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1340					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AAGCAATCAATTTAAGCATCA	0.423																																					p.F1319V		Atlas-SNP	.											.	NHS	302	.	0			c.T3955G						.						110.0	95.0	100.0					X																	17746244		2203	4300	6503	SO:0001583	missense	4810	exon6			AATCAATTTAAGC		CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.3955T>G	chrX.hg19:g.17746244T>G	ENSP00000369400:p.Phe1319Val	81.0	0.0		246.0	235.0	NM_198270	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	hg19	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	C	2.021	-0.424761	0.04734	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.39787	1.06;1.06	5.74	0.689	0.18033	.	1.134220	0.06265	N	0.694590	T	0.17280	0.0415	N	0.02539	-0.55	0.80722	P	0.0	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.28681	-1.0036	9	0.14656	T	0.56	0.9957	6.2175	0.20663	0.0:0.464:0.2082:0.3278	.	1340;1161;1163;1319	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	V	1319;1163;1161	ENSP00000369400:F1319V;ENSP00000381170:F1163V	ENSP00000369397:F1161V	F	+	1	0	NHS	17656165	0.103000	0.21917	0.090000	0.20809	0.257000	0.26127	0.002000	0.13061	-0.603000	0.05767	-0.992000	0.02543	TTT	.	0|0.003;C|0.382		0.423	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
CHST7	56548	hgsc.bcm.edu	37	X	46433907	46433907	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chrX:46433907G>A	ENST00000276055.3	+	1	689	c.541G>A	c.(541-543)Gcc>Acc	p.A181T		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	181					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|N-acetylglucosamine metabolic process (GO:0006044)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						cgctgcgcgcgccccggACAC	0.716																																					p.A181T		Atlas-SNP	.											.	CHST7	23	.	0			c.G541A						.						8.0	10.0	9.0					X																	46433907		2045	4032	6077	SO:0001583	missense	56548	exon1			GCGCGCGCCCCGG	AB040711	CCDS14268.1	Xp11.3	2008-02-05			ENSG00000147119	ENSG00000147119		"""Sulfotransferases, membrane-bound"""	13817	protein-coding gene	gene with protein product		300375				10781596	Standard	NM_019886		Approved	C6ST-2, C6ST2	uc004dgt.3	Q9NS84	OTTHUMG00000021423	ENST00000276055.3:c.541G>A	chrX.hg19:g.46433907G>A	ENSP00000276055:p.Ala181Thr	35.0	0.0		101.0	50.0	NM_019886	O75667	Missense_Mutation	SNP	ENST00000276055.3	hg19	CCDS14268.1	.	.	.	.	.	.	.	.	.	.	g	8.588	0.883919	0.17467	.	.	ENSG00000147119	ENST00000276055	D	0.97378	-4.36	3.5	1.64	0.23874	Sulfotransferase domain (1);	0.471116	0.15575	U	0.255203	D	0.90707	0.7084	N	0.19112	0.55	0.20074	N	0.999939	B	0.27416	0.178	B	0.19946	0.027	T	0.81422	-0.0940	10	0.22109	T	0.4	.	6.2169	0.20659	0.0:0.3873:0.412:0.2007	.	181	Q9NS84	CHST7_HUMAN	T	181	ENSP00000276055:A181T	ENSP00000276055:A181T	A	+	1	0	CHST7	46318851	0.988000	0.35896	0.161000	0.22692	0.498000	0.33706	-0.276000	0.08514	0.072000	0.16694	0.431000	0.28591	GCC	.	.		0.716	CHST7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056362.1	NM_019886	
ZMYM3	9203	hgsc.bcm.edu	37	X	70468643	70468643	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chrX:70468643G>C	ENST00000353904.2	-	9	1817	c.1630C>G	c.(1630-1632)Cga>Gga	p.R544G	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373988.1_Missense_Mutation_p.R546G|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R546G|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R544G|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R544G	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	544					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGGGTCGGGGAGGGCCT	0.562																																					p.R544G		Atlas-SNP	.											.	ZMYM3	137	.	0			c.C1630G						.						23.0	24.0	24.0					X																	70468643		2199	4293	6492	SO:0001583	missense	9203	exon9			AGGGTCGGGGAGG	AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1630C>G	chrX.hg19:g.70468643G>C	ENSP00000343909:p.Arg544Gly	53.0	0.0		162.0	29.0	NM_005096	D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	hg19	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	10.91	1.483624	0.26598	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.44482	1.51;0.92;1.51;1.5;1.51	5.51	5.51	0.81932	Zinc finger, MYM-type (1);	0.000000	0.53938	D	0.000058	T	0.43055	0.1230	L	0.54323	1.7	0.80722	D	1	P;P	0.41345	0.702;0.746	B;B	0.43754	0.304;0.43	T	0.21280	-1.0250	10	0.22109	T	0.4	-4.9165	14.0345	0.64636	0.0:0.0:0.8485:0.1515	.	544;544	Q14202-2;Q14202	.;ZMYM3_HUMAN	G	544;544;544;546;546	ENSP00000322845:R544G;ENSP00000363110:R544G;ENSP00000343909:R544G;ENSP00000363096:R546G;ENSP00000363100:R546G	ENSP00000322845:R544G	R	-	1	2	ZMYM3	70385368	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	3.511000	0.53400	2.313000	0.78055	0.365000	0.22127	CGA	.	.		0.562	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599	
AIFM1	9131	hgsc.bcm.edu	37	X	129270145	129270145	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chrX:129270145T>C	ENST00000287295.3	-	12	1410	c.1180A>G	c.(1180-1182)Ata>Gta	p.I394V	AIFM1_ENST00000319908.3_Missense_Mutation_p.I390V|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000346424.2_Missense_Mutation_p.I107V|AIFM1_ENST00000460436.2_Missense_Mutation_p.I55V|AIFM1_ENST00000440263.1_Missense_Mutation_p.I42V	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	394	FAD-dependent oxidoreductase. {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	GCTGCCACTATGTGGTCAGTT	0.468																																					p.I394V		Atlas-SNP	.											.	AIFM1	75	.	0			c.A1180G						.						45.0	42.0	43.0					X																	129270145		2202	4300	6502	SO:0001583	missense	9131	exon12			CCACTATGTGGTC	AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.1180A>G	chrX.hg19:g.129270145T>C	ENSP00000287295:p.Ile394Val	88.0	0.0		205.0	186.0	NM_004208	A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	ENST00000287295.3	hg19	CCDS14618.1	.	.	.	.	.	.	.	.	.	.	T	5.931	0.355743	0.11239	.	.	ENSG00000156709	ENST00000460436;ENST00000346424;ENST00000319908;ENST00000440263;ENST00000287295	T;T;T;T;T	0.71698	2.09;2.11;-0.59;2.06;-0.59	6.01	6.01	0.97437	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.40670	0.1126	N	0.01152	-0.98	0.80722	D	1	B;B;B	0.15473	0.002;0.01;0.013	B;B;B	0.18263	0.002;0.012;0.021	T	0.50701	-0.8797	10	0.02654	T	1	-17.2902	15.3956	0.74790	0.0:0.0:0.0:1.0	.	107;390;394	O95831-2;O95831-3;O95831	.;.;AIFM1_HUMAN	V	55;107;390;42;394	ENSP00000431222:I55V;ENSP00000316320:I107V;ENSP00000315122:I390V;ENSP00000405879:I42V;ENSP00000287295:I394V	ENSP00000287295:I394V	I	-	1	0	AIFM1	129097826	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.773000	0.55333	2.020000	0.59435	0.486000	0.48141	ATA	.	.		0.468	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058247.2		
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62484565	62484581	+	Frame_Shift_Del	DEL	TTGTACTTAGTGACAAT	TTGTACTTAGTGACAAT	-	rs199647392		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	TTGTACTTAGTGACAAT	TTGTACTTAGTGACAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr11:62484565_62484581delTTGTACTTAGTGACAAT	ENST00000301785.5	-	11	2053_2069	c.1861_1877delATTGTCACTAAGTACAA	c.(1861-1878)attgtcactaagtacaagfs	p.IVTKYK621fs	HNRNPUL2-BSCL2_ENST00000403734.2_Frame_Shift_Del_p.IVTKYK621fs	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	621						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGCCTCCTCCTTGTACTTAGTGACAATGGGCTGAGCT	0.525																																					p.621_626del		Atlas-INDEL	.											.	HNRNPUL2	41	.	0			c.1862_1878del						.																																			SO:0001589	frameshift_variant	221092	exon11			.		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1861_1877delATTGTCACTAAGTACAA	chr11.hg19:g.62484565_62484581delTTGTACTTAGTGACAAT	ENSP00000301785:p.Ile621fs	98.0	0.0		110.0	27.0	NM_001079559	Q8N3B3	Frame_Shift_Del	DEL	ENST00000301785.5	hg19	CCDS41659.1																																																																																			.	.		0.525	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
IFIT3	3437	hgsc.bcm.edu	37	10	91098522	91098542	+	In_Frame_Del	DEL	GAGTGTGTAACCAGATTGAAT	GAGTGTGTAACCAGATTGAAT	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	GAGTGTGTAACCAGATTGAAT	GAGTGTGTAACCAGATTGAAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr10:91098522_91098542delGAGTGTGTAACCAGATTGAAT	ENST00000371818.4	+	2	290_310	c.110_130delGAGTGTGTAACCAGATTGAAT	c.(109-132)agagtgtgtaaccagattgaattt>att	p.37_44RVCNQIEF>I	IFIT3_ENST00000371811.4_In_Frame_Del_p.37_44RVCNQIEF>I|LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	37				F -> S (in Ref. 5; AAH04977). {ECO:0000305}.	cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	identical protein binding (GO:0042802)			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						CTAGAAGATAGAGTGTGTAACCAGATTGAATTTTTAAACAC	0.425																																					p.37_43del		Atlas-INDEL	.											.	IFIT3	36	.	0			c.109_129del						.																																			SO:0001651	inframe_deletion	3437	exon2			.	U52513	CCDS7402.1, CCDS31241.1	10q23.31	2014-05-22	2004-07-16	2004-07-16	ENSG00000119917	ENSG00000119917		"""Tetratricopeptide (TTC) repeat domain containing"""	5411	protein-coding gene	gene with protein product		604650	"""interferon-induced protein with tetratricopeptide repeats 4"""	IFIT4		9828129, 9391139	Standard	NM_001031683		Approved	ISG60, RIG-G, CIG-49, IFI60, GARG-49, IRG2	uc001kgg.3	O14879	OTTHUMG00000018708	ENST00000371818.4:c.110_130delGAGTGTGTAACCAGATTGAAT	chr10.hg19:g.91098522_91098542delGAGTGTGTAACCAGATTGAAT	ENSP00000360883:p.Arg37_Phe44delinsIle	140.0	0.0		176.0	29.0	NM_001549	Q99634|Q9BSK7	In_Frame_Del	DEL	ENST00000371818.4	hg19	CCDS7402.1																																																																																			.	.		0.425	IFIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049294.1	NM_001549	
LAMB1	3912	hgsc.bcm.edu	37	7	107577640	107577684	+	In_Frame_Del	DEL	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	-	rs377388989	byFrequency	TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	CTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr7:107577640_107577684delCTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	ENST00000222399.6	-	26	4030_4074	c.3800_3844delTAGAAGTGAAATTATCTGACACAACTTCCCAAAGCAACAGCACAG	c.(3799-3846)gtagaagtgaaattatctgacacaacttcccaaagcaacagcacagcc>gcc	p.VEVKLSDTTSQSNST1267del	LAMB1_ENST00000393561.1_In_Frame_Del_p.VEVKLSDTTSQSNST1291del|LAMB1_ENST00000474380.1_5'Flank	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1267	Domain II.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						AGTTCTTTGGCTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTACTTGAGCCAT	0.376																																					p.1267_1282del		Atlas-INDEL	.											.	LAMB1	185	.	0			c.3801_3845del						.																																			SO:0001651	inframe_deletion	3912	exon26			.	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3800_3844delTAGAAGTGAAATTATCTGACACAACTTCCCAAAGCAACAGCACAG	chr7.hg19:g.107577640_107577684delCTGTGCTGTTGCTTTGGGAAGTTGTGTCAGATAATTTCACTTCTA	ENSP00000222399:p.Val1267_Thr1281del	82.0	0.0		139.0	10.0	NM_002291	Q14D91	In_Frame_Del	DEL	ENST00000222399.6	hg19	CCDS5750.1																																																																																			.	.		0.376	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291	
EP400NL	347918	hgsc.bcm.edu	37	12	132589368	132589386	+	Frame_Shift_Del	DEL	AGCAGCAGGTGCTGCAGGG	AGCAGCAGGTGCTGCAGGG	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	AGCAGCAGGTGCTGCAGGG	AGCAGCAGGTGCTGCAGGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:132589368_132589386delAGCAGCAGGTGCTGCAGGG	ENST00000376625.4	+	1	829_847	c.803_821delAGCAGCAGGTGCTGCAGGG	c.(802-822)cagcagcaggtgctgcaggggfs	p.QQQVLQG268fs	EP400NL_ENST00000443539.2_Frame_Shift_Del_p.QQQVLQG136fs|EP400NL_ENST00000389560.2_Frame_Shift_Del_p.QQQVLQG199fs|EP400NL_ENST00000361109.5_Intron|EP400NL_ENST00000392352.1_Frame_Shift_Del_p.QQQVLQG136fs			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	268										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						CTGGTTCAGCAGCAGCAGGTGCTGCAGGGGCCGCCGCTG	0.731																																					.		Atlas-INDEL	.											.	EP400NL	29	.	0			.						.																																			SO:0001589	frameshift_variant	347918	.			.	AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.803_821delAGCAGCAGGTGCTGCAGGG	chr12.hg19:g.132589368_132589386delAGCAGCAGGTGCTGCAGGG	ENSP00000365812:p.Gln268fs	80.0	0.0		83.0	11.0	.	A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	RNA	DEL	ENST00000376625.4	hg19																																																																																				.	.		0.731	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_182613	
KRIT1	889	hgsc.bcm.edu	37	7	91865731	91865731	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr7:91865731delC	ENST00000340022.2	-	7	1499	c.481delG	c.(481-483)gatfs	p.D161fs	KRIT1_ENST00000394507.1_Frame_Shift_Del_p.D161fs|KRIT1_ENST00000394505.2_Frame_Shift_Del_p.D161fs|KRIT1_ENST00000394503.2_Frame_Shift_Del_p.D161fs|KRIT1_ENST00000412043.2_Frame_Shift_Del_p.D161fs	NM_004912.3|NM_194455.1	NP_004903.2|NP_919437.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	161	N-terminal domain similar to Nudix hydrolase domain.				angiogenesis (GO:0001525)|cell redox homeostasis (GO:0045454)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|positive regulation of protein binding (GO:0032092)|regulation of catalytic activity (GO:0050790)|regulation of establishment of cell polarity (GO:2000114)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|microtubule (GO:0005874)|plasma membrane (GO:0005886)	microtubule binding (GO:0008017)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein complex binding (GO:0032403)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTTACTTATCCAAGGCTATT	0.318																																					p.D161fs		Atlas-INDEL	.											.	KRIT1	66	.	0			c.482delA						.						74.0	75.0	74.0					7																	91865731		2202	4300	6502	SO:0001589	frameshift_variant	889	exon8			.	AJ294850	CCDS5624.1, CCDS34679.1	7q21.2	2014-09-17	2005-03-15	2005-03-17	ENSG00000001631	ENSG00000001631		"""Ankyrin repeat domain containing"""	1573	protein-coding gene	gene with protein product		604214	"""cerebral cavernous malformations 1"""	CCM1		7604043, 11342228	Standard	NM_194455		Approved	CAM	uc003ulu.1	O00522	OTTHUMG00000131187	ENST00000340022.2:c.481delG	chr7.hg19:g.91865731delC	ENSP00000344668:p.Asp161fs	39.0	0.0		136.0	54.0	NM_194456	A6NNU0|O43894|Q506L6|Q6U276|Q75N19|Q9H180|Q9H264|Q9HAX5	Frame_Shift_Del	DEL	ENST00000340022.2	hg19	CCDS5624.1																																																																																			.	.		0.318	KRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253910.1		
DMXL2	23312	hgsc.bcm.edu	37	15	51768790	51768790	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:51768790delC	ENST00000251076.5	-	27	7244	c.6957delG	c.(6955-6957)tggfs	p.W2319fs	DMXL2_ENST00000449909.3_Frame_Shift_Del_p.W1683fs|DMXL2_ENST00000543779.2_Frame_Shift_Del_p.W2320fs|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2319						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCTCACCAGGCCATTGAGCAG	0.378																																					p.P2321fs		Atlas-INDEL	.											.	DMXL2	262	.	0			c.6961delC						.						143.0	136.0	138.0					15																	51768790		2196	4293	6489	SO:0001589	frameshift_variant	23312	exon27			.	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6957delG	chr15.hg19:g.51768790delC	ENSP00000251076:p.Trp2319fs	35.0	0.0		75.0	29.0	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Frame_Shift_Del	DEL	ENST00000251076.5	hg19	CCDS10141.1																																																																																			.	.		0.378	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
UBAC1	10422	hgsc.bcm.edu	37	9	138825357	138825357	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr9:138825357delA	ENST00000371756.3	-	10	1324	c.1107delT	c.(1105-1107)tttfs	p.F369fs		NM_016172.2	NP_057256.2	Q9BSL1	UBAC1_HUMAN	UBA domain containing 1	369	STI1.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				NS(1)|biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.1e-06)|Epithelial(140;7.79e-06)		GCATGTCTTCAAATGCTGCAG	0.542																																					p.E370fs	NSCLC(78;973 1398 27381 29552 42415)	Atlas-INDEL	.											.	UBAC1	40	.	0			c.1108delG						.						98.0	90.0	93.0					9																	138825357		2203	4300	6503	SO:0001589	frameshift_variant	10422	exon10			.	AF176796	CCDS35177.1	9q34.3	2008-02-05	2007-04-20	2007-04-20	ENSG00000130560	ENSG00000130560			30221	protein-coding gene	gene with protein product		608129	"""ubiquitin associated domain containing 1"""	UBADC1		10857748, 8619474	Standard	NM_016172		Approved	GBDR1	uc004cgt.3	Q9BSL1	OTTHUMG00000020920	ENST00000371756.3:c.1107delT	chr9.hg19:g.138825357delA	ENSP00000360821:p.Phe369fs	54.0	0.0		97.0	45.0	NM_016172	O75500|Q9UMW7	Frame_Shift_Del	DEL	ENST00000371756.3	hg19	CCDS35177.1																																																																																			.	.		0.542	UBAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055034.1	NM_016172	
FAM151A	338094	hgsc.bcm.edu	37	1	55085632	55085636	+	Frame_Shift_Del	DEL	AGGTA	AGGTA	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	AGGTA	AGGTA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr1:55085632_55085636delAGGTA	ENST00000302250.2	-	2	323_327	c.163_167delTACCT	c.(163-168)tacctgfs	p.YL55fs	FAM151A_ENST00000371304.2_Frame_Shift_Del_p.YL55fs|ACOT11_ENST00000371316.3_Intron|RP11-240D10.4_ENST00000416119.1_RNA	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	55						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CAGGCTCAGCAGGTAGTCCAGCATG	0.61																																					p.55_56del		Atlas-INDEL	.											.	FAM151A	58	.	0			c.164_168del						.																																			SO:0001589	frameshift_variant	338094	exon2			.	AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.163_167delTACCT	chr1.hg19:g.55085632_55085636delAGGTA	ENSP00000306888:p.Tyr55fs	29.0	0.0		51.0	16.0	NM_176782	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Del	DEL	ENST00000302250.2	hg19	CCDS594.1																																																																																			.	.		0.610	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027342.1	NM_176782	
TP53	7157	hgsc.bcm.edu	37	17	7578477	7578504	+	Frame_Shift_Del	DEL	GGGTGTGGAATCAACCCACAGCTGCACA	GGGTGTGGAATCAACCCACAGCTGCACA	-	rs587782197|rs28934874|rs137852790|rs137852791|rs587782620		TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	GGGTGTGGAATCAACCCACAGCTGCACA	GGGTGTGGAATCAACCCACAGCTGCACA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr17:7578477_7578504delGGGTGTGGAATCAACCCACAGCTGCACA	ENST00000269305.4	-	5	615_642	c.426_453delTGTGCAGCTGTGGGTTGATTCCACACCC	c.(424-453)cctgtgcagctgtgggttgattccacacccfs	p.PVQLWVDSTP142fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.PVQLWVDSTP142fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.PVQLWVDSTP142fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.PVQLWVDSTP142fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.PVQLWVDSTP142fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.PVQLWVDSTP142fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	142	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.W146*(72)|p.P151S(68)|p.Q144*(36)|p.P151H(31)|p.V143M(19)|p.V143A(18)|p.L145Q(17)|p.L145P(17)|p.P151T(16)|p.P151A(13)|p.P151P(12)|p.P152fs*18(11)|p.P151R(9)|p.L145L(8)|p.Q144L(8)|p.0?(8)|p.L145R(7)|p.P151fs*30(7)|p.P151L(7)|p.T150fs*16(6)|p.S149F(6)|p.S149S(6)|p.V147G(6)|p.V147I(6)|p.P152fs*29(5)|p.V143E(5)|p.V147fs*23(5)|p.?(5)|p.W146R(5)|p.S149fs*32(5)|p.V147D(5)|p.V143L(4)|p.T150I(4)|p.Q144H(4)|p.D148E(4)|p.D148N(4)|p.Q144R(4)|p.Q144P(4)|p.S149P(4)|p.W146S(4)|p.W14*(3)|p.W53*(3)|p.Q144fs*25(3)|p.Q144fs*26(3)|p.S149fs*21(3)|p.P142P(3)|p.V147V(3)|p.Q12*(2)|p.V143fs*27(2)|p.D148fs*33(2)|p.P152fs*28(2)|p.P58H(2)|p.P58S(2)|p.V143V(2)|p.Q51*(2)|p.Q144del(2)|p.V11A(2)|p.Q144K(2)|p.V50A(2)|p.L145V(2)|p.D148V(2)|p.Q144Q(2)|p.S149T(2)|p.P58A(2)|p.D148fs*23(2)|p.D148fs*22(2)|p.W146C(2)|p.V147A(2)|p.P19S(2)|p.P19H(2)|p.P19A(2)|p.L137_W146del10(1)|p.V143fs*29(1)|p.D148fs*34(1)|p.D148fs*32(1)|p.L145del(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.W146fs*1(1)|p.W14S(1)|p.P58T(1)|p.P58R(1)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.Q144fs*32(1)|p.T150fs*31(1)|p.T150fs*23(1)|p.W53S(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.Q51fs*25(1)|p.P152del(1)|p.V143G(1)|p.S149fs*72(1)|p.Q144fs*16(1)|p.L145M(1)|p.V11M(1)|p.K139fs*4(1)|p.C141fs*5(1)|p.P152_P153del(1)|p.T150R(1)|p.V50M(1)|p.T150K(1)|p.P151del(1)|p.W146_S149>C(1)|p.D148del(1)|p.S149fs*17(1)|p.V143_S149del(1)|p.P152fs*14(1)|p.T150_P151delTP(1)|p.Q144fs*4(1)|p.P142_Q144delPVQ(1)|p.P153fs*16(1)|p.D148Y(1)|p.P151_V173del23(1)|p.D148D(1)|p.D148H(1)|p.A138_V143delAKTCPV(1)|p.P153fs*28(1)|p.S149fs*31(1)|p.W146G(1)|p.V147E(1)|p.V147F(1)|p.P19R(1)|p.P19T(1)|p.T18fs*16(1)|p.D148*(1)|p.Q12fs*25(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGCCGGGCGGGGGTGTGGAATCAACCCACAGCTGCACAGGGCAGGTCT	0.588		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.143_152del	Pancreas(47;798 1329 9957 10801)	Atlas-INDEL	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,carcinoma,+1,1	TP53	33396	.	613	Substitution - Missense(344)|Substitution - Nonsense(119)|Deletion - Frameshift(55)|Substitution - coding silent(37)|Insertion - Frameshift(26)|Deletion - In frame(16)|Whole gene deletion(8)|Unknown(5)|Complex - frameshift(1)|Complex - deletion inframe(1)|Insertion - In frame(1)	large_intestine(84)|lung(72)|upper_aerodigestive_tract(69)|breast(57)|oesophagus(48)|haematopoietic_and_lymphoid_tissue(45)|ovary(41)|stomach(31)|urinary_tract(28)|endometrium(22)|central_nervous_system(20)|liver(19)|skin(16)|prostate(16)|soft_tissue(11)|pancreas(10)|biliary_tract(8)|bone(5)|vulva(4)|thyroid(2)|salivary_gland(2)|pleura(1)|peritoneum(1)|cervix(1)	c.427_454del	GRCh37	CD044990|CM012662|CM023462|CM941326	TP53	D|M	rs28934874	.																																			SO:0001589	frameshift_variant	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	.	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.426_453delTGTGCAGCTGTGGGTTGATTCCACACCC	chr17.hg19:g.7578477_7578504delGGGTGTGGAATCAACCCACAGCTGCACA	ENSP00000269305:p.Pro142fs	105.0	0.0		50.0	17.0	NM_001126112	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	hg19	CCDS11118.1																																																																																			.	.		0.588	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
YES1	7525	hgsc.bcm.edu	37	18	743374	743375	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	GA	GA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr18:743374_743375delGA	ENST00000584307.1	-	7	935_936	c.765_766delTC	c.(763-768)tgtccafs	p.P256fs	YES1_ENST00000314574.4_Frame_Shift_Del_p.P256fs|YES1_ENST00000577961.1_Frame_Shift_Del_p.P261fs			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	256					blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TTCACAGTTGGACACACAGTTG	0.386																																					p.256_256del		Atlas-INDEL	.											.	YES1	50	.	0			c.766_767del						.																																			SO:0001589	frameshift_variant	7525	exon7			.	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.765_766delTC	chr18.hg19:g.743374_743375delGA	ENSP00000462468:p.Pro256fs	53.0	0.0		121.0	72.0	NM_005433	A6NLB3|D3DUH1	Frame_Shift_Del	DEL	ENST00000584307.1	hg19	CCDS11824.1																																																																																			.	.		0.386	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	
LTBR	4055	hgsc.bcm.edu	37	12	6493827	6493827	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr12:6493827delT	ENST00000228918.4	+	2	496	c.170delT	c.(169-171)atcfs	p.I57fs	LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000541102.1_5'Flank|LTBR_ENST00000539925.1_Frame_Shift_Del_p.I38fs|LTBR_ENST00000543190.1_5'UTR	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	57					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|signal transduction (GO:0007165)|viral process (GO:0016032)	integral component of membrane (GO:0016021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						CAGCACCGCATCTGCTGCTCC	0.632																																					p.I57fs		Atlas-INDEL	.											.	LTBR	30	.	0			c.169delA						.						54.0	58.0	57.0					12																	6493827		2203	4300	6503	SO:0001589	frameshift_variant	4055	exon2			.	L04270	CCDS8544.1, CCDS59233.1	12p13	2013-05-22				ENSG00000111321		"""Tumor necrosis factor receptor superfamily"""	6718	protein-coding gene	gene with protein product		600979		D12S370		8171323, 8486360	Standard	NM_002342		Approved	TNFCR, TNFR-RP, TNFR2-RP, TNF-R-III, TNFRSF3	uc001qny.2	P36941		ENST00000228918.4:c.170delT	chr12.hg19:g.6493827delT	ENSP00000228918:p.Ile57fs	62.0	0.0		97.0	41.0	NM_002342	B7Z1D2|D3DUR2|F5GXE7	Frame_Shift_Del	DEL	ENST00000228918.4	hg19	CCDS8544.1																																																																																			.	.		0.632	LTBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399422.1		
NIPA2	81614	hgsc.bcm.edu	37	15	23006742	23006743	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DD-AACF-01A-11D-A40R-10	TCGA-DD-AACF-10A-01D-A40U-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	10de1a6c-59f9-4819-ae33-a37b0f025bd2	a93a98e3-6c06-4078-bdc4-f6d5306dd50c	g.chr15:23006742_23006743delTT	ENST00000337451.3	-	8	1173_1174	c.561_562delAA	c.(559-564)gtaatcfs	p.I188fs	NIPA2_ENST00000398013.3_Frame_Shift_Del_p.I188fs|NIPA2_ENST00000398014.2_Frame_Shift_Del_p.I188fs|NIPA2_ENST00000359727.4_Frame_Shift_Del_p.I169fs|NIPA2_ENST00000539711.2_Frame_Shift_Del_p.I169fs	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	188						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		AACGCGCCGATTACAGAGCAGA	0.51																																					p.188_188del		Atlas-INDEL	.											.	NIPA2	49	.	0			c.562_563del						.																																			SO:0001589	frameshift_variant	81614	exon10			.	AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.561_562delAA	chr15.hg19:g.23006742_23006743delTT	ENSP00000337618:p.Ile188fs	123.0	0.0		105.0	82.0	NM_001184889	F8W7Y8|Q96F03|Q9BVS2	Frame_Shift_Del	DEL	ENST00000337451.3	hg19	CCDS10010.1																																																																																			.	.		0.510	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251137.1	NM_030922	
