#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
MIB2	142678	hgsc.bcm.edu	37	1	1562694	1562694	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:1562694G>T	ENST00000357210.4	+	12	1783	c.1567G>T	c.(1567-1569)Ggc>Tgc	p.G523C	MIB2_ENST00000378712.1_Missense_Mutation_p.G400C|MIB2_ENST00000360522.4_Missense_Mutation_p.G488C|MIB2_ENST00000520777.1_Missense_Mutation_p.G576C|MIB2_ENST00000378710.3_Missense_Mutation_p.G487C|MIB2_ENST00000505820.2_Missense_Mutation_p.G580C|MIB2_ENST00000504599.1_Missense_Mutation_p.G479C|MIB2_ENST00000355826.5_Missense_Mutation_p.G566C|MIB2_ENST00000518681.1_Missense_Mutation_p.G515C|MIB2_ENST00000378708.1_Missense_Mutation_p.G429C	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	523					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAAGAACCAAGGCAGGACCGC	0.652																																					p.G580C		Atlas-SNP	.											.	MIB2	62	.	0			c.G1738T						.						44.0	56.0	52.0					1																	1562694		2122	4224	6346	SO:0001583	missense	142678	exon12			AACCAAGGCAGGA	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1567G>T	chr1.hg19:g.1562694G>T	ENSP00000349741:p.Gly523Cys	355.0	0.0		182.0	101.0	NM_080875	A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.62|19.62	3.862644|3.862644	0.71949|0.71949	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	D;D;D;D;D;D;D;D;D;D|.	0.88741|.	-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42;-2.42|.	3.92|3.92	3.92|3.92	0.45320|0.45320	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86489|0.86489	0.5945|0.5945	H|H	0.95402|0.95402	3.665|3.665	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D|D	0.90958|0.90958	0.4810|0.4810	10|5	0.87932|.	D|.	0|.	-13.4616|-13.4616	15.0876|15.0876	0.72167|0.72167	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	488;429;400;515;576;509;523|.	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;.;MIB2_HUMAN|.	C|M	576;523;488;487;566;515;580;400;479;429|338	ENSP00000428660:G576C;ENSP00000349741:G523C;ENSP00000353713:G488C;ENSP00000367982:G487C;ENSP00000348081:G566C;ENSP00000428264:G515C;ENSP00000426103:G580C;ENSP00000367984:G400C;ENSP00000426128:G479C;ENSP00000367980:G429C|.	ENSP00000348081:G566C|.	G|R	+|+	1|2	0|0	MIB2|MIB2	1552557|1552557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.827000|0.827000	0.46813|0.46813	9.459000|9.459000	0.97638|0.97638	2.011000|2.011000	0.59026|0.59026	0.455000|0.455000	0.32223|0.32223	GGC|AGG	.	.		0.652	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875	
ZNF644	84146	hgsc.bcm.edu	37	1	91382375	91382375	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:91382375T>A	ENST00000370440.1	-	6	4181	c.3964A>T	c.(3964-3966)Atg>Ttg	p.M1322L	ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000337393.5_Missense_Mutation_p.M1322L|ZNF644_ENST00000347275.5_Missense_Mutation_p.M100L|ZNF644_ENST00000361321.5_Missense_Mutation_p.M100L			Q9H582	ZN644_HUMAN	zinc finger protein 644	1322					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCTTCGGCCATTAGTAGAGAA	0.378																																					p.M1322L		Atlas-SNP	.											.	ZNF644	120	.	0			c.A3964T						.						70.0	69.0	69.0					1																	91382375		2203	4300	6503	SO:0001583	missense	84146	exon6			CGGCCATTAGTAG	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.3964A>T	chr1.hg19:g.91382375T>A	ENSP00000359469:p.Met1322Leu	168.0	0.0		144.0	63.0	NM_201269	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	hg19	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	12.51	1.960278	0.34565	.	.	ENSG00000122482	ENST00000370440;ENST00000347275;ENST00000337393;ENST00000361321	T;T	0.00574	6.47;6.47	5.8	4.69	0.59074	.	0.228597	0.45867	D	0.000337	T	0.00241	0.0007	N	0.14661	0.345	0.35334	D	0.785894	P;B	0.40000	0.698;0.002	B;B	0.38296	0.27;0.001	T	0.73180	-0.4064	10	0.87932	D	0	-6.5633	11.2739	0.49155	0.0:0.0707:0.0:0.9293	.	1322;100	Q9H582;Q9H582-3	ZN644_HUMAN;.	L	1322;100;1322;100	ENSP00000359469:M1322L;ENSP00000337008:M1322L	ENSP00000337008:M1322L	M	-	1	0	ZNF644	91154963	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.522000	0.53480	2.216000	0.71823	0.533000	0.62120	ATG	.	.		0.378	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ARHGAP29	9411	hgsc.bcm.edu	37	1	94685889	94685889	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:94685889T>C	ENST00000260526.6	-	3	447	c.265A>G	c.(265-267)Ata>Gta	p.I89V	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.I89V	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	89					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTATTCATTATAGACTTTAAA	0.313																																					p.I89V		Atlas-SNP	.											.	ARHGAP29	132	.	0			c.A265G						.						97.0	97.0	97.0					1																	94685889		2202	4298	6500	SO:0001583	missense	9411	exon3			TCATTATAGACTT		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.265A>G	chr1.hg19:g.94685889T>C	ENSP00000260526:p.Ile89Val	98.0	0.0		56.0	21.0	NM_004815	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	hg19	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	2.973	-0.212107	0.06140	.	.	ENSG00000137962	ENST00000260526;ENST00000370217	T;T	0.17854	2.4;2.25	5.67	-0.797	0.10909	.	0.752143	0.10886	N	0.623287	T	0.01287	0.0042	N	0.04018	-0.295	0.26110	N	0.980698	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.47995	-0.9073	10	0.02654	T	1	-8.156	5.1579	0.15044	0.1365:0.3966:0.0:0.4669	.	89;89	Q52LW3-2;Q52LW3	.;RHG29_HUMAN	V	89	ENSP00000260526:I89V;ENSP00000359237:I89V	ENSP00000260526:I89V	I	-	1	0	ARHGAP29	94458477	0.228000	0.23718	0.999000	0.59377	0.988000	0.76386	-0.415000	0.07106	0.254000	0.21573	0.533000	0.62120	ATA	.	.		0.313	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
YY1AP1	55249	hgsc.bcm.edu	37	1	155630103	155630103	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:155630103C>T	ENST00000295566.4	-	11	1759	c.1736G>A	c.(1735-1737)aGa>aAa	p.R579K	YY1AP1_ENST00000359205.5_Missense_Mutation_p.R522K|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R671K|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.R533K|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000311573.5_Missense_Mutation_p.R502K|YY1AP1_ENST00000361831.5_Missense_Mutation_p.R522K|YY1AP1_ENST00000404643.1_Missense_Mutation_p.R513K|YY1AP1_ENST00000407221.1_Missense_Mutation_p.R502K|YY1AP1_ENST00000535662.1_Missense_Mutation_p.R379K|YY1AP1_ENST00000368330.2_Missense_Mutation_p.R533K|YY1AP1_ENST00000368340.5_Missense_Mutation_p.R651K|YY1AP1_ENST00000347088.5_Missense_Mutation_p.R533K	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	579					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					GGCTCCCCTTCTTTTTGAGGG	0.522																																					p.R671K		Atlas-SNP	.											YY1AP1_ENST00000368339,right_upper_lobe,carcinoma,0,2	YY1AP1	104	.	0			c.G2012A						.						108.0	105.0	106.0					1																	155630103		2203	4300	6503	SO:0001583	missense	55249	exon10			CCCCTTCTTTTTG	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.1736G>A	chr1.hg19:g.155630103C>T	ENSP00000295566:p.Arg579Lys	222.0	2.0		231.0	69.0	NM_001198903	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	hg19	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	10.72	1.429237	0.25726	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	2.53	1.58	0.23477	.	0.558747	0.19160	N	0.121218	T	0.28797	0.0714	M	0.66939	2.045	0.53688	D	0.999979	B;B;B;B;B	0.34399	0.001;0.009;0.452;0.025;0.1	B;B;P;B;B	0.44623	0.003;0.013;0.455;0.012;0.022	T	0.10941	-1.0608	10	0.30854	T	0.27	.	6.0708	0.19887	0.0:0.652:0.0:0.348	.	671;513;579;533;651	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	K	522;533;502;533;522;651;579;533;502;513;671;379	ENSP00000352134:R522K;ENSP00000347686:R533K;ENSP00000311138:R502K;ENSP00000316079:R533K;ENSP00000355298:R522K;ENSP00000357324:R651K;ENSP00000295566:R579K;ENSP00000357314:R533K;ENSP00000385791:R502K;ENSP00000385390:R513K;ENSP00000357323:R671K;ENSP00000437926:R379K	ENSP00000295566:R579K	R	-	2	0	YY1AP1	153896727	0.952000	0.32445	0.507000	0.27676	0.828000	0.46876	0.610000	0.24253	0.388000	0.25054	0.306000	0.20318	AGA	.	.		0.522	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
PRRX1	5396	hgsc.bcm.edu	37	1	170633528	170633528	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:170633528G>A	ENST00000239461.6	+	1	482	c.169G>A	c.(169-171)Gtg>Atg	p.V57M	PRRX1_ENST00000367760.3_Missense_Mutation_p.V57M|RP1-79C4.4_ENST00000606154.1_lincRNA|PRRX1_ENST00000497230.2_Missense_Mutation_p.V57M	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	57					artery morphogenesis (GO:0048844)|cartilage development (GO:0051216)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic limb morphogenesis (GO:0030326)|inner ear morphogenesis (GO:0042472)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)	nucleolus (GO:0005730)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GGATGAGAACGTGGGCGAGGC	0.672																																					p.V57M		Atlas-SNP	.											.	PRRX1	81	.	0			c.G169A						.						29.0	28.0	28.0					1																	170633528		2203	4300	6503	SO:0001583	missense	5396	exon1			GAGAACGTGGGCG	M95929	CCDS1290.1, CCDS1291.1	1q24.3	2011-06-20	2003-11-12	2003-11-14	ENSG00000116132	ENSG00000116132		"""Homeoboxes / PRD class"""	9142	protein-coding gene	gene with protein product		167420	"""paired mesoderm homeo box 1"""	PMX1		1509260	Standard	NM_006902		Approved	PHOX1	uc001ghf.3	P54821	OTTHUMG00000035231	ENST00000239461.6:c.169G>A	chr1.hg19:g.170633528G>A	ENSP00000239461:p.Val57Met	369.0	1.0		390.0	109.0	NM_006902	B5BUM7|O60807	Missense_Mutation	SNP	ENST00000239461.6	hg19	CCDS1290.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.899395	0.33535	.	.	ENSG00000116132	ENST00000553786;ENST00000367760;ENST00000239461;ENST00000497230	D;D;D;D	0.91351	-2.75;-2.79;-2.83;-2.77	4.63	4.63	0.57726	.	0.126840	0.53938	D	0.000058	T	0.77961	0.4209	N	0.19112	0.55	0.80722	D	1	P;P	0.46277	0.614;0.875	B;B	0.42245	0.089;0.381	T	0.81495	-0.0907	10	0.46703	T	0.11	.	11.4545	0.50173	0.0:0.0:0.8198:0.1801	.	57;57	P54821;P54821-2	PRRX1_HUMAN;.	M	10;57;57;57	ENSP00000451943:V10M;ENSP00000356734:V57M;ENSP00000239461:V57M;ENSP00000450762:V57M	ENSP00000239461:V57M	V	+	1	0	PRRX1	168900152	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.568000	0.67385	2.399000	0.81585	0.555000	0.69702	GTG	.	.		0.672	PRRX1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085236.3	NM_006902	
BRINP2	57795	hgsc.bcm.edu	37	1	177250089	177250089	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:177250089T>C	ENST00000361539.4	+	8	2089	c.1777T>C	c.(1777-1779)Ttt>Ctt	p.F593L	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	593					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											CGTCAACCCCTTTGGGGGCAG	0.567																																					p.F593L		Atlas-SNP	.											.	FAM5B	191	.	0			c.T1777C						.						46.0	46.0	46.0					1																	177250089		2203	4300	6503	SO:0001583	missense	57795	exon8			AACCCCTTTGGGG		CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1777T>C	chr1.hg19:g.177250089T>C	ENSP00000354481:p.Phe593Leu	76.0	0.0		126.0	35.0	NM_021165	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	ENST00000361539.4	hg19	CCDS1320.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940782	0.52972	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.18016	2.24	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.42562	0.1208	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.80764	0.994;0.956	T	0.30534	-0.9975	10	0.38643	T	0.18	-11.8898	14.8158	0.70034	0.0:0.0:0.0:1.0	.	488;593	Q9C0B6-2;Q9C0B6	.;FAM5B_HUMAN	L	346;593	ENSP00000354481:F593L	ENSP00000354481:F593L	F	+	1	0	FAM5B	175516712	1.000000	0.71417	0.990000	0.47175	0.282000	0.26991	7.910000	0.87451	1.978000	0.57642	0.260000	0.18958	TTT	.	.		0.567	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1	NM_021165	
ANGPTL1	9068	hgsc.bcm.edu	37	1	178834353	178834353	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:178834353T>G	ENST00000234816.2	-	3	1006	c.559A>C	c.(559-561)Aat>Cat	p.N187H	ANGPTL1_ENST00000367629.1_Missense_Mutation_p.N187H|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	187					transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GATTGGTTATTGACAAGATCA	0.443																																					p.N187H		Atlas-SNP	.											.	ANGPTL1	41	.	0			c.A559C						.						108.0	94.0	99.0					1																	178834353		2203	4300	6503	SO:0001583	missense	9068	exon3			GGTTATTGACAAG	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.559A>C	chr1.hg19:g.178834353T>G	ENSP00000234816:p.Asn187His	148.0	0.0		168.0	89.0	NM_004673	Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	hg19	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	T	15.41	2.826399	0.50739	.	.	ENSG00000116194	ENST00000234816;ENST00000367629;ENST00000415564	T;T	0.56275	0.47;0.47	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.48409	0.1498	L	0.46741	1.465	0.80722	D	1	B	0.31989	0.35	B	0.34301	0.179	T	0.43814	-0.9368	10	0.30854	T	0.27	.	15.235	0.73422	0.0:0.0:0.0:1.0	.	187	O95841	ANGL1_HUMAN	H	187;187;151	ENSP00000234816:N187H;ENSP00000356601:N187H	ENSP00000234816:N187H	N	-	1	0	ANGPTL1	177100976	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.132000	0.65825	0.528000	0.53228	AAT	.	.		0.443	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673	
PLA2G4A	5321	hgsc.bcm.edu	37	1	186880516	186880516	+	Missense_Mutation	SNP	C	C	T	rs374028240		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:186880516C>T	ENST00000367466.3	+	7	705	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	PLA2G4A_ENST00000442353.2_Intron|PLA2G4A_ENST00000466600.1_3'UTR	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	185	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GCATTCTGCACGTGATGTGAG	0.353																																					p.R185C		Atlas-SNP	.											.	PLA2G4A	125	.	0			c.C553T						.	C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	105.0	108.0	107.0		553	4.9	1.0	1		107	0,8600		0,0,4300	no	missense	PLA2G4A	NM_024420.2	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	185/750	186880516	1,13005	2203	4300	6503	SO:0001583	missense	5321	exon7			TCTGCACGTGATG	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.553C>T	chr1.hg19:g.186880516C>T	ENSP00000356436:p.Arg185Cys	99.0	0.0		92.0	38.0	NM_024420	B1AKG4|Q29R80	Missense_Mutation	SNP	ENST00000367466.3	hg19	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.937054	0.34189	2.27E-4	0.0	ENSG00000116711	ENST00000367466	T	0.04706	3.57	4.94	4.94	0.65067	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	0.447714	0.25981	N	0.027080	T	0.08044	0.0201	M	0.61703	1.905	0.80722	D	1	P	0.52061	0.95	B	0.43155	0.41	T	0.02983	-1.1086	10	0.59425	D	0.04	-12.3085	11.1737	0.48586	0.1839:0.8161:0.0:0.0	.	185	P47712	PA24A_HUMAN	C	185	ENSP00000356436:R185C	ENSP00000356436:R185C	R	+	1	0	PLA2G4A	185147139	0.990000	0.36364	0.996000	0.52242	0.367000	0.29736	1.898000	0.39809	2.437000	0.82529	0.650000	0.86243	CGT	.	.		0.353	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420	
IARS2	55699	hgsc.bcm.edu	37	1	220273891	220273891	+	Silent	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:220273891G>T	ENST00000302637.5	+	3	554	c.450G>T	c.(448-450)gtG>gtT	p.V150V	IARS2_ENST00000366922.1_Silent_p.V78V	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	150					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TACATTTTGTGCCCGGCTGGG	0.338																																					p.V150V		Atlas-SNP	.											.	IARS2	106	.	0			c.G450T						.						62.0	67.0	65.0					1																	220273891		2203	4300	6503	SO:0001819	synonymous_variant	55699	exon3			TTTTGTGCCCGGC	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.450G>T	chr1.hg19:g.220273891G>T		353.0	0.0		340.0	179.0	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	ENST00000302637.5	hg19	CCDS1523.1																																																																																			.	.		0.338	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
FMN2	56776	hgsc.bcm.edu	37	1	240370098	240370098	+	Splice_Site	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:240370098G>A	ENST00000319653.9	+	5	2216		c.e5-1			NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2						cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCGCCCTTCAGGAAGTTGTTG	0.393																																					.		Atlas-SNP	.											.	FMN2	451	.	0			c.1987-1G>A						.						43.0	44.0	44.0					1																	240370098		2201	4297	6498	SO:0001630	splice_region_variant	56776	exon5			CCTTCAGGAAGTT	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1987-1G>A	chr1.hg19:g.240370098G>A		263.0	0.0		318.0	177.0	NM_020066	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Splice_Site	SNP	ENST00000319653.9	hg19	CCDS31069.2	.	.	.	.	.	.	.	.	.	.	G	14.04	2.416696	0.42918	.	.	ENSG00000155816	ENST00000447095;ENST00000319653	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1731	0.98165	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FMN2	238436721	1.000000	0.71417	0.981000	0.43875	0.095000	0.18619	7.991000	0.88244	2.768000	0.95171	0.655000	0.94253	.	.	.		0.393	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	Intron
CHML	1122	hgsc.bcm.edu	37	1	241797784	241797784	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:241797784T>C	ENST00000366553.1	-	1	1448	c.1285A>G	c.(1285-1287)Ata>Gta	p.I429V	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	429					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTAGCATTTATTCTTTGACCA	0.353																																					p.I429V		Atlas-SNP	.											.	CHML	82	.	0			c.A1285G						.						76.0	80.0	79.0					1																	241797784		2200	4298	6498	SO:0001583	missense	1122	exon1			CATTTATTCTTTG	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1285A>G	chr1.hg19:g.241797784T>C	ENSP00000355511:p.Ile429Val	61.0	0.0		77.0	19.0	NM_001821	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	hg19	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	T	16.50	3.139700	0.56936	.	.	ENSG00000203668	ENST00000366553	T	0.59906	0.23	4.93	4.93	0.64822	.	0.047798	0.85682	U	0.000000	T	0.64159	0.2573	.	.	.	0.41886	D	0.990341	P	0.36535	0.557	P	0.52481	0.7	T	0.59252	-0.7489	9	0.20519	T	0.43	-15.9105	12.8833	0.58030	0.0:0.0:0.0:1.0	.	429	P26374	RAE2_HUMAN	V	429	ENSP00000355511:I429V	ENSP00000355511:I429V	I	-	1	0	CHML	239864407	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.302000	0.65733	2.218000	0.71995	0.533000	0.62120	ATA	.	.		0.353	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
KIDINS220	57498	hgsc.bcm.edu	37	2	8953428	8953428	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr2:8953428C>T	ENST00000256707.3	-	5	525	c.344G>A	c.(343-345)gGc>gAc	p.G115D	KIDINS220_ENST00000319688.5_Missense_Mutation_p.G115D|KIDINS220_ENST00000473731.1_Missense_Mutation_p.G115D|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G73D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G115D	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	115					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCAGTACGGCCTTTGTAACA	0.378																																					p.G115D		Atlas-SNP	.											.	KIDINS220	136	.	0			c.G344A						.						162.0	151.0	154.0					2																	8953428		1903	4133	6036	SO:0001583	missense	57498	exon5			GTACGGCCTTTGT	AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.344G>A	chr2.hg19:g.8953428C>T	ENSP00000256707:p.Gly115Asp	279.0	0.0		266.0	100.0	NM_020738	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	ENST00000256707.3	hg19	CCDS42650.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898405	0.91962	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T	0.74421	-0.84;-0.84;1.91;-0.84;-0.84;-0.84	6.0	6.0	0.97389	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.87427	0.2386	10	0.72032	D	0.01	.	20.0896	0.97814	0.0:1.0:0.0:0.0	.	115;73;115	B4DK94;Q9ULH0-2;Q9ULH0	.;.;KDIS_HUMAN	D	115;115;73;115;115;115	ENSP00000256707:G115D;ENSP00000411849:G115D;ENSP00000414923:G73D;ENSP00000418974:G115D;ENSP00000419964:G115D;ENSP00000319947:G115D	ENSP00000256707:G115D	G	-	2	0	KIDINS220	8870879	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	7.268000	0.78473	2.846000	0.97976	0.650000	0.86243	GGC	.	.		0.378	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323408.2	NM_020738	
NBAS	51594	hgsc.bcm.edu	37	2	15319165	15319165	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr2:15319165G>A	ENST00000281513.5	-	51	6812	c.6787C>T	c.(6787-6789)Cga>Tga	p.R2263*	NBAS_ENST00000441750.1_Nonsense_Mutation_p.R2143*	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2263					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.R2263*(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGCTCATCTCGGCTCTCGAGG	0.483																																					p.R2263X		Atlas-SNP	.											NBAS,NS,carcinoma,0,1	NBAS	246	.	1	Substitution - Nonsense(1)	breast(1)	c.C6787T						.						87.0	75.0	79.0					2																	15319165		2203	4300	6503	SO:0001587	stop_gained	51594	exon51			CATCTCGGCTCTC	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.6787C>T	chr2.hg19:g.15319165G>A	ENSP00000281513:p.Arg2263*	449.0	1.0		404.0	148.0	NM_015909	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Nonsense_Mutation	SNP	ENST00000281513.5	hg19	CCDS1685.1	.	.	.	.	.	.	.	.	.	.	G	44	10.732753	0.99458	.	.	ENSG00000151779	ENST00000441750;ENST00000281513;ENST00000423602	.	.	.	5.98	3.16	0.36331	.	1.426570	0.03665	N	0.243171	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	9.0963	0.36640	0.0:0.2389:0.3935:0.3676	.	.	.	.	X	2143;2263;117	.	ENSP00000281513:R2263X	R	-	1	2	NBAS	15236616	0.988000	0.35896	0.315000	0.25238	0.015000	0.08874	2.073000	0.41519	0.395000	0.25257	-0.230000	0.12252	CGA	.	.		0.483	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909	
MYCN	4613	hgsc.bcm.edu	37	2	16082485	16082485	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr2:16082485G>T	ENST00000281043.3	+	2	596	c.299G>T	c.(298-300)gGg>gTg	p.G100V	MYCNOS_ENST00000448719.1_RNA|MYCNOS_ENST00000419083.1_RNA|MYCNOS_ENST00000453400.1_RNA|MYCNOS_ENST00000439180.1_RNA|MYCNOS_ENST00000420452.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	100					branching morphogenesis of an epithelial tube (GO:0048754)|cartilage condensation (GO:0001502)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|lung development (GO:0030324)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|positive regulation of cell death (GO:0010942)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin (GO:0000785)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			TTCGGCCTGGGGGGACTGGGT	0.697			A		neuroblastoma																																p.G100V		Atlas-SNP	.		Dom	yes		2	2p24.1	4613	"""v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian)"""		O	.	MYCN	63	.	0			c.G299T						.						11.0	11.0	11.0					2																	16082485		2167	4254	6421	SO:0001583	missense	4613	exon2			GCCTGGGGGGACT	BC002712	CCDS1687.1	2p24.3	2013-08-14	2013-07-09		ENSG00000134323	ENSG00000134323		"""Basic helix-loop-helix proteins"""	7559	protein-coding gene	gene with protein product		164840		NMYC			Standard	XM_006711886		Approved	bHLHe37, N-myc, MYCNOT	uc002rci.3	P04198	OTTHUMG00000039579	ENST00000281043.3:c.299G>T	chr2.hg19:g.16082485G>T	ENSP00000281043:p.Gly100Val	1018.0	0.0		777.0	288.0	NM_005378	Q53XS5|Q6LDT9	Missense_Mutation	SNP	ENST00000281043.3	hg19	CCDS1687.1	.	.	.	.	.	.	.	.	.	.	G	17.25	3.342692	0.61073	.	.	ENSG00000134323	ENST00000281043;ENST00000426211	T	0.19938	2.11	2.89	2.89	0.33648	Transcription regulator Myc, N-terminal (1);	0.625852	0.16639	N	0.205726	T	0.38852	0.1056	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	D	0.65443	0.935	T	0.21348	-1.0248	10	0.49607	T	0.09	-12.5617	12.7304	0.57195	0.0:0.0:1.0:0.0	.	100	P04198	MYCN_HUMAN	V	100	ENSP00000281043:G100V	ENSP00000281043:G100V	G	+	2	0	MYCN	15999936	1.000000	0.71417	0.937000	0.37676	0.344000	0.29017	4.356000	0.59430	1.567000	0.49668	0.561000	0.74099	GGG	.	.		0.697	MYCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095469.2	NM_005378	
LTBP1	4052	hgsc.bcm.edu	37	2	33588558	33588558	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr2:33588558T>G	ENST00000404816.2	+	29	4725	c.4372T>G	c.(4372-4374)Tat>Gat	p.Y1458D	LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1090D|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1459D|LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1132D|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y356D|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1079D|LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1077D|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1133D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1458	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGGGACGTACTATGATCCTGT	0.393																																					p.Y1458D		Atlas-SNP	.											.	LTBP1	317	.	0			c.T4372G						.						173.0	162.0	165.0					2																	33588558		2203	4300	6503	SO:0001583	missense	4052	exon29			ACGTACTATGATC		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.4372T>G	chr2.hg19:g.33588558T>G	ENSP00000386043:p.Tyr1458Asp	94.0	0.0		71.0	36.0	NM_206943	A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Missense_Mutation	SNP	ENST00000404816.2	hg19	CCDS33177.2	.	.	.	.	.	.	.	.	.	.	T	20.8	4.044928	0.75732	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000402934;ENST00000404525;ENST00000407925;ENST00000272273	D;D;D;D;D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-3.76;-2.9	5.34	5.34	0.76211	Epidermal growth factor-like (1);	.	.	.	.	D	0.98036	0.9353	M	0.90252	3.1	0.58432	D	0.999998	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.995;0.999;0.998;1.0;0.999;0.999;1.0	D	0.99150	1.0858	9	0.87932	D	0	.	15.3253	0.74157	0.0:0.0:0.0:1.0	.	356;1458;1090;1079;1132;1133;1459	E7EUU6;Q14766;E7EV71;Q14766-3;Q14766-2;Q14766-5;Q14766-4	.;LTBP1_HUMAN;.;.;.;.;.	D	1458;1459;1133;1090;1077;1079;1132;356	ENSP00000386043:Y1458D;ENSP00000346467:Y1459D;ENSP00000374653:Y1133D;ENSP00000393057:Y1090D;ENSP00000384373:Y1077D;ENSP00000385359:Y1079D;ENSP00000384091:Y1132D;ENSP00000272273:Y356D	ENSP00000272273:Y356D	Y	+	1	0	LTBP1	33442062	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	7.846000	0.86887	2.025000	0.59659	0.460000	0.39030	TAT	.	.		0.393	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943	
HK2	3099	hgsc.bcm.edu	37	2	75107408	75107408	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr2:75107408C>G	ENST00000290573.2	+	10	1882	c.1282C>G	c.(1282-1284)Cat>Gat	p.H428D	HK2_ENST00000409174.1_Missense_Mutation_p.H400D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	428	Hexokinase type-2 1.|Regulatory.				apoptotic mitochondrial changes (GO:0008637)|carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose transport (GO:0008645)|lactation (GO:0007595)|regulation of glucose import (GO:0046324)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|glucose binding (GO:0005536)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CAAGCGTCTACATAAGACCGT	0.587																																					p.H428D		Atlas-SNP	.											.	HK2	85	.	0			c.C1282G						.						182.0	204.0	196.0					2																	75107408		2202	4299	6501	SO:0001583	missense	3099	exon10			CGTCTACATAAGA		CCDS1956.1	2p13	2010-03-19			ENSG00000159399	ENSG00000159399	2.7.1.1		4923	protein-coding gene	gene with protein product		601125					Standard	NM_000189		Approved		uc002snd.3	P52789	OTTHUMG00000129972	ENST00000290573.2:c.1282C>G	chr2.hg19:g.75107408C>G	ENSP00000290573:p.His428Asp	118.0	0.0		96.0	42.0	NM_000189	D6W5J2|Q8WU87|Q9UN82	Missense_Mutation	SNP	ENST00000290573.2	hg19	CCDS1956.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.363212	0.24684	.	.	ENSG00000159399	ENST00000290573;ENST00000535740;ENST00000409174	D;D	0.96365	-3.99;-3.99	4.89	4.89	0.63831	Hexokinase, C-terminal (1);	0.226646	0.53938	D	0.000060	D	0.96460	0.8845	L	0.58428	1.81	0.58432	D	0.999999	P	0.36733	0.567	P	0.50231	0.635	D	0.94628	0.7819	10	0.22706	T	0.39	-16.621	15.9407	0.79750	0.0:1.0:0.0:0.0	.	428	P52789	HXK2_HUMAN	D	428;428;400	ENSP00000290573:H428D;ENSP00000387140:H400D	ENSP00000290573:H428D	H	+	1	0	HK2	74960916	1.000000	0.71417	1.000000	0.80357	0.408000	0.30992	4.582000	0.60957	2.704000	0.92352	0.563000	0.77884	CAT	.	.		0.587	HK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252238.2	NM_000189	
RBMS3	27303	hgsc.bcm.edu	37	3	29804446	29804446	+	Silent	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr3:29804446T>C	ENST00000383767.2	+	6	939	c.603T>C	c.(601-603)aaT>aaC	p.N201N	RBMS3_ENST00000396583.3_Silent_p.N201N|RBMS3_ENST00000273139.9_Silent_p.N201N|RBMS3_ENST00000445033.1_Silent_p.N201N|RBMS3_ENST00000456853.1_Silent_p.N201N|RBMS3_ENST00000434693.2_Silent_p.N200N|RBMS3_ENST00000452462.1_Silent_p.N201N|RBMS3_ENST00000383766.2_Silent_p.N200N			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	201	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				AACATTTTAATGGAAAATATC	0.343																																					p.N201N		Atlas-SNP	.											.	RBMS3	62	.	0			c.T603C						.						65.0	65.0	65.0					3																	29804446		2203	4300	6503	SO:0001819	synonymous_variant	27303	exon6			TTTTAATGGAAAA	AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.603T>C	chr3.hg19:g.29804446T>C		378.0	0.0		303.0	102.0	NM_001003793	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	ENST00000383767.2	hg19	CCDS33724.1																																																																																			.	.		0.343	RBMS3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341306.1	NM_001003792	
STT3B	201595	hgsc.bcm.edu	37	3	31658480	31658480	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr3:31658480A>C	ENST00000295770.2	+	7	1245	c.1036A>C	c.(1036-1038)Aaa>Caa	p.K346Q	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	346					co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						CCGATTAACAAAACAAGAGTT	0.388																																					p.K346Q		Atlas-SNP	.											.	STT3B	52	.	0			c.A1036C						.						208.0	211.0	210.0					3																	31658480		2203	4300	6503	SO:0001583	missense	201595	exon7			TTAACAAAACAAG	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.1036A>C	chr3.hg19:g.31658480A>C	ENSP00000295770:p.Lys346Gln	119.0	0.0		97.0	33.0	NM_178862	Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	hg19	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.483048	0.44147	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.44	5.44	0.79542	.	0.050004	0.85682	D	0.000000	T	0.60157	0.2247	M	0.62088	1.915	0.40987	D	0.984829	B	0.19935	0.04	B	0.21151	0.033	T	0.57642	-0.7776	9	0.25751	T	0.34	-14.3221	15.5023	0.75709	1.0:0.0:0.0:0.0	.	346	Q8TCJ2	STT3B_HUMAN	Q	346	.	ENSP00000295770:K346Q	K	+	1	0	STT3B	31633484	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	5.846000	0.69444	2.065000	0.61736	0.459000	0.35465	AAA	.	.		0.388	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862	
ATRIP	84126	hgsc.bcm.edu	37	3	48501904	48501904	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr3:48501904A>G	ENST00000320211.3	+	8	1564	c.1451A>G	c.(1450-1452)cAc>cGc	p.H484R	ATRIP_ENST00000346691.4_Missense_Mutation_p.H484R|ATRIP_ENST00000357105.6_Missense_Mutation_p.H357R|ATRIP_ENST00000412052.1_Missense_Mutation_p.H391R	NM_130384.2	NP_569055.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	484					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTCTTCAGCACCTGGTGTGC	0.562								Other conserved DNA damage response genes																													p.H484R		Atlas-SNP	.											.	ATRIP	41	.	0			c.A1451G						.						107.0	104.0	105.0					3																	48501904		2203	4300	6503	SO:0001583	missense	84126	exon8			TTCAGCACCTGGT	AF451323	CCDS2767.1, CCDS2768.1, CCDS59449.1, CCDS59450.1	3p24.3-p22.1	2007-06-20			ENSG00000164053	ENSG00000164053			33499	protein-coding gene	gene with protein product		606605				11721054	Standard	NM_130384		Approved	FLJ12343, MGC20625, MGC21482, MGC26740	uc003ctf.2	Q8WXE1	OTTHUMG00000133532	ENST00000320211.3:c.1451A>G	chr3.hg19:g.48501904A>G	ENSP00000323099:p.His484Arg	98.0	0.0		71.0	25.0	NM_130384	A8K6A3|A8K714|B2RCE7|B4DU92|B5MEB7|Q69YK9|Q8NHQ2|Q8WUG7|Q96CL3|Q9HA30	Missense_Mutation	SNP	ENST00000320211.3	hg19	CCDS2768.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.173050	0.78452	.	.	ENSG00000164053	ENST00000320211;ENST00000346691;ENST00000357105;ENST00000412052	T;T;T;T	0.50001	1.33;1.31;0.76;1.33	5.95	5.95	0.96441	.	0.221434	0.46145	D	0.000303	T	0.55401	0.1918	M	0.63843	1.955	0.43300	D	0.995293	D;D	0.53462	0.96;0.96	P;P	0.50537	0.643;0.643	T	0.55885	-0.8070	9	.	.	.	-10.6132	14.3757	0.66874	1.0:0.0:0.0:0.0	.	484;484	Q8WXE1-2;Q8WXE1	.;ATRIP_HUMAN	R	484;484;357;391	ENSP00000323099:H484R;ENSP00000302338:H484R;ENSP00000349620:H357R;ENSP00000400930:H391R	.	H	+	2	0	ATRIP	48476908	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.865000	0.75500	2.279000	0.76181	0.533000	0.62120	CAC	.	.		0.562	ATRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257507.2	NM_130384	
QRICH1	54870	hgsc.bcm.edu	37	3	49070130	49070130	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr3:49070130G>A	ENST00000395443.2	-	8	2444	c.1972C>T	c.(1972-1974)Ccc>Tcc	p.P658S	QRICH1_ENST00000424300.1_Missense_Mutation_p.P658S|QRICH1_ENST00000357496.2_Missense_Mutation_p.P658S|RP13-131K19.6_ENST00000607245.1_RNA|QRICH1_ENST00000479449.1_5'Flank	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	658						nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGATTAGAGGGGTTCTTCTTT	0.498																																					p.P658S		Atlas-SNP	.											.	QRICH1	48	.	0			c.C1972T						.						127.0	120.0	122.0					3																	49070130		2203	4300	6503	SO:0001583	missense	54870	exon8			TAGAGGGGTTCTT		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1972C>T	chr3.hg19:g.49070130G>A	ENSP00000378830:p.Pro658Ser	98.0	0.0		80.0	31.0	NM_198880	Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	hg19	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434305	0.62955	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.5	4.61	0.57282	.	0.046599	0.85682	D	0.000000	T	0.50240	0.1604	L	0.35723	1.085	0.80722	D	1	B	0.33883	0.43	B	0.35859	0.212	T	0.48514	-0.9029	9	0.38643	T	0.18	-3.6025	15.4935	0.75632	0.0:0.0:0.8603:0.1396	.	658	Q2TAL8	QRIC1_HUMAN	S	658	.	ENSP00000350094:P658S	P	-	1	0	QRICH1	49045134	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	1.296000	0.44742	0.650000	0.86243	CCC	.	.		0.498	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	NM_017730	
PBRM1	55193	hgsc.bcm.edu	37	3	52595942	52595942	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr3:52595942A>C	ENST00000296302.7	-	25	4130	c.4129T>G	c.(4129-4131)Tcc>Gcc	p.S1377A	PBRM1_ENST00000356770.4_Missense_Mutation_p.S1345A|PBRM1_ENST00000337303.4_Missense_Mutation_p.S1377A|PBRM1_ENST00000409114.3_Missense_Mutation_p.S1392A|PBRM1_ENST00000394830.3_Missense_Mutation_p.S1325A|PBRM1_ENST00000409057.1_Missense_Mutation_p.S1377A|PBRM1_ENST00000409767.1_Missense_Mutation_p.S1392A|PBRM1_ENST00000410007.1_Missense_Mutation_p.S1352A|RNU6ATAC16P_ENST00000408591.1_RNA|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1377					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCCGTTTGGAGCCTTCCTTC	0.468			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.S1325A		Atlas-SNP	.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252	.	0			c.T3973G						.						167.0	167.0	167.0					3																	52595942		2203	4300	6503	SO:0001583	missense	55193	exon26			GTTTGGAGCCTTC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4129T>G	chr3.hg19:g.52595942A>C	ENSP00000296302:p.Ser1377Ala	168.0	0.0		139.0	54.0	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	A	10.21	1.288211	0.23478	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.93811	-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29;-3.29	5.89	4.73	0.59995	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.81884	0.4917	N	0.03608	-0.345	0.39338	D	0.96553	B;B;B;B;B;B;B;B	0.14438	0.006;0.007;0.006;0.0;0.001;0.01;0.001;0.0	B;B;B;B;B;B;B;B	0.10450	0.005;0.003;0.005;0.001;0.003;0.002;0.005;0.0	T	0.74592	-0.3614	10	0.27785	T	0.31	-9.3819	7.8835	0.29635	0.7934:0.1375:0.069:0.0	.	1352;1325;1377;1392;1392;1377;1345;1377	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	A	1345;1325;1377;1377;1377;1352;1392;1392;1376	ENSP00000349213:S1345A;ENSP00000378307:S1325A;ENSP00000296302:S1377A;ENSP00000338302:S1377A;ENSP00000386593:S1377A;ENSP00000386529:S1352A;ENSP00000386643:S1392A;ENSP00000386601:S1392A;ENSP00000387775:S1376A	ENSP00000296302:S1377A	S	-	1	0	PBRM1	52570982	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.690000	0.54713	1.059000	0.40554	0.455000	0.32223	TCC	.	.		0.468	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
EIF2A	83939	hgsc.bcm.edu	37	3	150290287	150290287	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr3:150290287A>G	ENST00000460851.1	+	10	1463	c.1354A>G	c.(1354-1356)Aga>Gga	p.R452G	EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000383043.3_Missense_Mutation_p.R238G|EIF2A_ENST00000406576.3_Missense_Mutation_p.R391G|EIF2A_ENST00000487799.1_Missense_Mutation_p.R427G|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000273435.5_Missense_Mutation_p.R447G			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	452					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CCCAGCTTTAAGAAATAAACC	0.363																																					p.R452G		Atlas-SNP	.											.	EIF2A	59	.	0			c.A1354G						.						72.0	71.0	72.0					3																	150290287		1824	4078	5902	SO:0001583	missense	83939	exon10			GCTTTAAGAAATA	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1354A>G	chr3.hg19:g.150290287A>G	ENSP00000417229:p.Arg452Gly	118.0	0.0		87.0	34.0	NM_032025	A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Missense_Mutation	SNP	ENST00000460851.1	hg19	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.429572	0.62844	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	T;T;T;T;T	0.54675	1.08;1.06;1.06;1.01;0.56	5.87	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.88105	2.93	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.994;0.969	D;D;P	0.85130	0.997;0.918;0.814	T	0.80274	-0.1451	10	0.87932	D	0	-41.111	13.0098	0.58725	0.7476:0.2524:0.0:0.0	.	391;427;452	B4DF96;B4DQ14;Q9BY44	.;.;EIF2A_HUMAN	G	427;452;391;447;238	ENSP00000420537:R427G;ENSP00000417229:R452G;ENSP00000385292:R391G;ENSP00000273435:R447G;ENSP00000372513:R238G	ENSP00000273435:R447G	R	+	1	2	EIF2A	151772977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.932000	0.48940	1.104000	0.41587	0.533000	0.62120	AGA	.	.		0.363	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025	
PDE6B	5158	hgsc.bcm.edu	37	4	651192	651192	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr4:651192A>T	ENST00000496514.1	+	10	1331	c.1310A>T	c.(1309-1311)aAg>aTg	p.K437M	RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.K437M|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.K158M			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	437					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACCTACGACAAGATGAACAAG	0.612																																					p.K437M	GBM(71;463 1194 9848 25922 46834)	Atlas-SNP	.											.	PDE6B	80	.	0			c.A1310T						.						196.0	117.0	144.0					4																	651192		2203	4300	6503	SO:0001583	missense	5158	exon10			ACGACAAGATGAA	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.1310A>T	chr4.hg19:g.651192A>T	ENSP00000420295:p.Lys437Met	357.0	1.0		303.0	102.0	NM_001145291	B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	hg19	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.420362	0.83559	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163	T;T;T	0.71222	-0.55;-0.55;-0.55	4.85	4.85	0.62838	GAF (1);	0.241479	0.42420	D	0.000705	D	0.82962	0.5151	M	0.84433	2.695	0.80722	D	1	D;D	0.63880	0.988;0.993	P;P	0.61658	0.784;0.892	D	0.85936	0.1455	10	0.87932	D	0	.	12.3767	0.55283	1.0:0.0:0.0:0.0	.	437;437	P35913;P35913-2	PDE6B_HUMAN;.	M	437;437;158	ENSP00000255622:K437M;ENSP00000420295:K437M;ENSP00000406334:K158M	ENSP00000255622:K437M	K	+	2	0	PDE6B	641192	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.014000	0.57145	1.804000	0.52760	0.367000	0.22151	AAG	.	.		0.612	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283	
GABRG1	2565	hgsc.bcm.edu	37	4	46060543	46060543	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr4:46060543A>G	ENST00000295452.4	-	6	889	c.722T>C	c.(721-723)gTa>gCa	p.V241A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	241					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCGTAACCCTACAAATGCAAA	0.338																																					p.V241A		Atlas-SNP	.											.	GABRG1	172	.	0			c.T722C						.						93.0	89.0	90.0					4																	46060543		2203	4300	6503	SO:0001583	missense	2565	exon6			AACCCTACAAATG	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.722T>C	chr4.hg19:g.46060543A>G	ENSP00000295452:p.Val241Ala	223.0	0.0		145.0	61.0	NM_173536	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	hg19	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	A	14.97	2.694185	0.48202	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	T	0.78481	-1.18	5.83	4.65	0.58169	Neurotransmitter-gated ion-channel ligand-binding (3);	0.188463	0.45867	N	0.000337	T	0.74861	0.3772	L	0.39633	1.23	0.44890	D	0.997902	B	0.33549	0.417	B	0.43194	0.411	T	0.73424	-0.3987	10	0.51188	T	0.08	.	10.8942	0.47012	0.9269:0.0:0.0731:0.0	.	241	Q8N1C3	GBRG1_HUMAN	A	241	ENSP00000295452:V241A	ENSP00000295452:V241A	V	-	2	0	GABRG1	45755300	1.000000	0.71417	1.000000	0.80357	0.501000	0.33797	6.303000	0.72794	1.051000	0.40369	0.529000	0.55759	GTA	.	.		0.338	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
UBA6	55236	hgsc.bcm.edu	37	4	68528881	68528881	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr4:68528881T>G	ENST00000322244.5	-	12	1072	c.1013A>C	c.(1012-1014)aAa>aCa	p.K338T	UBA6_ENST00000420827.2_Missense_Mutation_p.K338T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	338					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GCGACTGTATTTCTCCTGAAA	0.323																																					p.K338T		Atlas-SNP	.											.	UBA6	98	.	0			c.A1013C						.						144.0	146.0	146.0					4																	68528881		2203	4300	6503	SO:0001583	missense	55236	exon12			CTGTATTTCTCCT	AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.1013A>C	chr4.hg19:g.68528881T>G	ENSP00000313454:p.Lys338Thr	310.0	0.0		163.0	95.0	NM_018227	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	ENST00000322244.5	hg19	CCDS3516.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.680361	0.29872	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.29917	1.55;1.55	6.03	2.3	0.28687	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.538421	0.23220	N	0.050565	T	0.20495	0.0493	L	0.38838	1.175	0.27260	N	0.958652	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.14504	-1.0470	10	0.31617	T	0.26	-7.1868	6.8878	0.24212	0.0:0.1333:0.1277:0.7391	.	338;338	A0AVT1-3;A0AVT1	.;UBA6_HUMAN	T	338	ENSP00000313454:K338T;ENSP00000399234:K338T	ENSP00000313454:K338T	K	-	2	0	UBA6	68211476	1.000000	0.71417	0.983000	0.44433	0.924000	0.55760	1.505000	0.35736	0.508000	0.28173	0.455000	0.32223	AAA	.	.		0.323	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251429.2	NM_018227	
MGST2	4258	hgsc.bcm.edu	37	4	140616397	140616397	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr4:140616397A>G	ENST00000265498.1	+	3	457	c.205A>G	c.(205-207)Atg>Gtg	p.M69V	MGST2_ENST00000515137.1_3'UTR|MGST2_ENST00000506797.1_Intron	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	69					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|leukotriene biosynthetic process (GO:0019370)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Busulfan(DB01008)|Glutathione(DB00143)	TACATTGTGGATGGCTGGGTG	0.333																																					p.M69V		Atlas-SNP	.											.	MGST2	7	.	0			c.A205G						.						127.0	125.0	126.0					4																	140616397		2203	4300	6503	SO:0001583	missense	4258	exon3			TTGTGGATGGCTG	U77604	CCDS3749.1, CCDS56339.1	4q28.3	2012-06-21			ENSG00000085871	ENSG00000085871	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7063	protein-coding gene	gene with protein product		601733				8703034	Standard	NM_002413		Approved	MGST-II	uc003ihy.3	Q99735	OTTHUMG00000133382	ENST00000265498.1:c.205A>G	chr4.hg19:g.140616397A>G	ENSP00000265498:p.Met69Val	98.0	0.0		51.0	32.0	NM_001204366	D6RBB5|Q7Z5B8	Missense_Mutation	SNP	ENST00000265498.1	hg19	CCDS3749.1	.	.	.	.	.	.	.	.	.	.	A	1.539	-0.542373	0.04053	.	.	ENSG00000085871	ENST00000265498	T	0.54279	0.58	5.73	4.55	0.56014	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.203950	0.44097	D	0.000500	T	0.28101	0.0693	N	0.12887	0.27	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.13308	-1.0514	10	0.02654	T	1	-18.7034	9.2087	0.37304	0.9174:0.0:0.0826:0.0	.	69	Q99735	MGST2_HUMAN	V	69	ENSP00000265498:M69V	ENSP00000265498:M69V	M	+	1	0	MGST2	140835847	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.327000	0.33746	1.008000	0.39264	0.460000	0.39030	ATG	.	.		0.333	MGST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257232.2	NM_002413	
FYB	2533	hgsc.bcm.edu	37	5	39126206	39126206	+	Intron	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr5:39126206T>C	ENST00000351578.6	-	11	2098				FYB_ENST00000505428.1_Missense_Mutation_p.T647A|FYB_ENST00000515010.1_Intron|FYB_ENST00000512982.1_Missense_Mutation_p.T647A|FYB_ENST00000540520.1_Missense_Mutation_p.T657A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein						immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CAGGACCACGTATTACTCTTC	0.413																																					p.T657A		Atlas-SNP	.											FYB_ENST00000540520,NS,carcinoma,0,2	FYB	354	.	0			c.A1969G						.						113.0	102.0	106.0					5																	39126206		1914	4139	6053	SO:0001627	intron_variant	2533	exon12			ACCACGTATTACT	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1907+1636A>G	chr5.hg19:g.39126206T>C		104.0	0.0		88.0	21.0	NM_001243093	A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	hg19	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	T	4.305	0.055841	0.08291	.	.	ENSG00000082074	ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T	0.21734	1.99;1.99;2.0	6.07	-2.6	0.06190	.	1.299270	0.04734	N	0.421711	T	0.11410	0.0278	N	0.16478	0.41	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.29336	-1.0015	10	0.32370	T	0.25	-0.6544	4.1481	0.10225	0.1747:0.1536:0.0689:0.6027	.	657	B4DLN2	.	A	647;647;657;647	ENSP00000425845:T647A;ENSP00000427114:T647A;ENSP00000442840:T657A	ENSP00000427114:T647A	T	-	1	0	FYB	39161963	0.985000	0.35326	0.025000	0.17156	0.989000	0.77384	0.248000	0.18198	-0.349000	0.08274	0.477000	0.44152	ACG	.	.		0.413	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	NM_001465	
ARAP3	64411	hgsc.bcm.edu	37	5	141038047	141038047	+	Splice_Site	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr5:141038047C>T	ENST00000239440.4	-	25	3477		c.e25-1		ARAP3_ENST00000512390.1_Splice_Site|ARAP3_ENST00000513878.1_Splice_Site|ARAP3_ENST00000508305.1_Splice_Site	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGGGGACACCTGGGGTCAGG	0.567																																					.		Atlas-SNP	.											.	ARAP3	139	.	0			c.3412-1G>A						.						103.0	85.0	91.0					5																	141038047		2203	4300	6503	SO:0001630	splice_region_variant	64411	exon26			GGACACCTGGGGT	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.3412-1G>A	chr5.hg19:g.141038047C>T		130.0	0.0		109.0	30.0	NM_022481	B4DIT1|D3DQE3	Splice_Site	SNP	ENST00000239440.4	hg19	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.977829	0.92982	.	.	ENSG00000120318	ENST00000508305;ENST00000239440;ENST00000513878	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.201	0.89838	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ARAP3	141018231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.970000	0.76099	2.837000	0.97791	0.655000	0.94253	.	.	.		0.567	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	Intron
FAT2	2196	hgsc.bcm.edu	37	5	150887158	150887158	+	Missense_Mutation	SNP	G	G	A	rs538316910		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr5:150887158G>A	ENST00000261800.5	-	22	12086	c.12074C>T	c.(12073-12075)gCg>gTg	p.A4025V	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4025					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACAACCCCTCGCCTCCATTTC	0.552													G|||	1	0.000199681	0.0	0.0	5008	,	,		17739	0.0		0.0	False		,,,				2504	0.001				p.A4025V		Atlas-SNP	.											.	FAT2	465	.	0			c.C12074T						.						31.0	28.0	29.0					5																	150887158		2203	4300	6503	SO:0001583	missense	2196	exon22			CCCCTCGCCTCCA	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.12074C>T	chr5.hg19:g.150887158G>A	ENSP00000261800:p.Ala4025Val	33.0	0.0		36.0	10.0	NM_001447	O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	hg19	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	9.971	1.225479	0.22457	.	.	ENSG00000086570	ENST00000261800	D	0.91237	-2.81	5.46	4.47	0.54385	Concanavalin A-like lectin/glucanase, subgroup (1);	0.219986	0.31531	N	0.007489	T	0.72661	0.3488	N	0.03209	-0.39	0.09310	N	1	P;B	0.46020	0.871;0.11	B;B	0.38428	0.273;0.026	T	0.65450	-0.6165	10	0.17369	T	0.5	.	6.1789	0.20459	0.1568:0.0:0.8432:0.0	.	4025;1130	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	V	4025	ENSP00000261800:A4025V	ENSP00000261800:A4025V	A	-	2	0	FAT2	150867351	0.008000	0.16893	0.060000	0.19600	0.223000	0.24884	1.012000	0.29924	2.548000	0.85928	0.655000	0.94253	GCG	.	.		0.552	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
MAPK9	5601	hgsc.bcm.edu	37	5	179707453	179707453	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr5:179707453G>C	ENST00000452135.2	-	2	407	c.109C>G	c.(109-111)Caa>Gaa	p.Q37E	MAPK9_ENST00000347470.4_Missense_Mutation_p.Q37E|MAPK9_ENST00000539014.1_Missense_Mutation_p.Q37E|MAPK9_ENST00000343111.6_Missense_Mutation_p.Q37E|MAPK9_ENST00000455781.1_Missense_Mutation_p.Q37E|MAPK9_ENST00000393360.3_Missense_Mutation_p.Q37E|MAPK9_ENST00000397072.3_Missense_Mutation_p.Q37E|MAPK9_ENST00000425491.2_Missense_Mutation_p.Q37E			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	37	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAATCCCTTGGGCCCCAGAG	0.393																																					p.Q37E		Atlas-SNP	.											.	MAPK9	173	.	0			c.C109G						.						140.0	129.0	133.0					5																	179707453		2203	4300	6503	SO:0001583	missense	5601	exon2			TCCCTTGGGCCCC	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.109C>G	chr5.hg19:g.179707453G>C	ENSP00000394560:p.Gln37Glu	154.0	0.0		115.0	33.0	NM_002752	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Missense_Mutation	SNP	ENST00000452135.2	hg19	CCDS4453.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.787963	0.70337	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470;ENST00000397072;ENST00000425491;ENST00000539014;ENST00000523583	D;D;D;D;D;T;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-0.76;-1.63;-1.63;-1.63	5.33	4.47	0.54385	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82273	0.5001	N	0.21508	0.67	0.80722	D	1	D;D;D;D;D	0.67145	0.981;0.981;0.981;0.996;0.99	P;P;P;P;P	0.61003	0.682;0.745;0.804;0.875;0.882	T	0.80765	-0.1236	9	.	.	.	-23.7831	13.6346	0.62215	0.0739:0.0:0.9261:0.0	.	37;37;37;37;37	P45984-5;P45984-4;P45984-3;P45984-2;P45984	.;.;.;.;MK09_HUMAN	E	37	ENSP00000394560:Q37E;ENSP00000377028:Q37E;ENSP00000389338:Q37E;ENSP00000345524:Q37E;ENSP00000321410:Q37E;ENSP00000380262:Q37E;ENSP00000397422:Q37E;ENSP00000443149:Q37E;ENSP00000430608:Q37E	.	Q	-	1	0	MAPK9	179640059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.731000	0.98807	1.251000	0.43983	0.655000	0.94253	CAA	.	.		0.393	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253530.3		
MYLK4	340156	hgsc.bcm.edu	37	6	2685717	2685717	+	Splice_Site	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:2685717C>T	ENST00000274643.7	-	5	777	c.435G>A	c.(433-435)aaG>aaA	p.K145K	MYLK4_ENST00000268446.5_Splice_Site_p.K145K	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	145	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CAGGCTGTACCTTGTCCTTCA	0.567																																					p.K145K		Atlas-SNP	.											.	MYLK4	74	.	0			c.G435A						.						154.0	150.0	152.0					6																	2685717		2203	4300	6503	SO:0001630	splice_region_variant	340156	exon5			CTGTACCTTGTCC		CCDS34330.1	6p25.2	2008-01-23			ENSG00000145949	ENSG00000145949			27972	protein-coding gene	gene with protein product	"""caMLCK like"""						Standard	NM_001012418		Approved	SgK085	uc003mty.4	Q86YV6	OTTHUMG00000014121	ENST00000274643.7:c.435+1G>A	chr6.hg19:g.2685717C>T		95.0	0.0		98.0	26.0	NM_001012418	A2RUC0|Q5TAW2	Silent	SNP	ENST00000274643.7	hg19	CCDS34330.1																																																																																			.	.		0.567	MYLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039632.2	NM_001012418	Silent
CSNK2B	1460	hgsc.bcm.edu	37	6	31635683	31635683	+	Silent	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:31635683T>C	ENST00000375882.2	+	3	267	c.111T>C	c.(109-111)acT>acC	p.T37T	CSNK2B_ENST00000375866.2_Silent_p.T37T|CSNK2B-LY6G5B-1181_ENST00000375880.2_Silent_p.T37T|GPANK1_ENST00000375900.4_5'Flank|GPANK1_ENST00000375906.1_5'Flank|GPANK1_ENST00000375893.2_5'Flank|CSNK2B_ENST00000375865.2_Silent_p.T37T|LY6G5B_ENST00000409525.1_5'Flank|LY6G5B_ENST00000375864.4_5'Flank|GPANK1_ENST00000375895.2_5'Flank|CSNK2B_ENST00000375885.4_Silent_p.T56T|GPANK1_ENST00000375896.4_5'Flank	NM_001282385.1|NM_001320.5	NP_001269314.1|NP_001311.3	P67870	CSK2B_HUMAN	casein kinase 2, beta polypeptide	37					adiponectin-activated signaling pathway (GO:0033211)|axon guidance (GO:0007411)|cellular protein complex assembly (GO:0043623)|endothelial tube morphogenesis (GO:0061154)|mitotic cell cycle (GO:0000278)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell proliferation (GO:0008285)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|protein phosphorylation (GO:0006468)|regulation of DNA binding (GO:0051101)|regulation of protein kinase activity (GO:0045859)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein kinase CK2 complex (GO:0005956)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)|protein kinase regulator activity (GO:0019887)|receptor binding (GO:0005102)|transcription factor binding (GO:0008134)			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						TTAATCTTACTGGACTCAATG	0.488																																					p.T37T		Atlas-SNP	.											.	CSNK2B	15	.	0			c.T111C						.						131.0	119.0	123.0					6																	31635683		2203	4300	6503	SO:0001819	synonymous_variant	1460	exon3			TCTTACTGGACTC	M30448	CCDS4712.1	6p21.33	2013-01-17			ENSG00000204435	ENSG00000204435	2.7.11.1		2460	protein-coding gene	gene with protein product		115441				2276748, 9503014	Standard	NM_001320		Approved		uc003nvr.1	P67870	OTTHUMG00000177888	ENST00000375882.2:c.111T>C	chr6.hg19:g.31635683T>C		70.0	0.0		82.0	30.0	NM_001320	B0UXA9|P07312|P13862|Q4VX47	Silent	SNP	ENST00000375882.2	hg19	CCDS4712.1																																																																																			.	.		0.488	CSNK2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076063.8	NM_001320	
DNAH8	1769	hgsc.bcm.edu	37	6	38897346	38897346	+	Silent	SNP	C	C	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:38897346C>A	ENST00000359357.3	+	73	10781	c.10527C>A	c.(10525-10527)ggC>ggA	p.G3509G	RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.G3473G|DNAH8_ENST00000449981.2_Silent_p.G3726G|RP1-207H1.3_ENST00000418399.1_RNA			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3509	AAA 5. {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(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTCCTTGGGCCGACCCCTTC	0.408																																					p.G3726G		Atlas-SNP	.											.	DNAH8	1239	.	0			c.C11178A						.						136.0	132.0	133.0					6																	38897346		2203	4300	6503	SO:0001819	synonymous_variant	1769	exon75			CTTGGGCCGACCC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10527C>A	chr6.hg19:g.38897346C>A		94.0	0.0		65.0	28.0	NM_001206927	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	hg19																																																																																				.	.		0.408	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
ABCC10	89845	hgsc.bcm.edu	37	6	43400067	43400067	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:43400067C>G	ENST00000372530.4	+	3	564	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000244533.3_Missense_Mutation_p.L74V	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	117					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CAGCCACAGCCTGGCCCTGTG	0.652																																					p.L117V		Atlas-SNP	.											.	ABCC10	118	.	0			c.C349G						.						61.0	61.0	61.0					6																	43400067		2203	4300	6503	SO:0001583	missense	89845	exon3			CACAGCCTGGCCC	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.349C>G	chr6.hg19:g.43400067C>G	ENSP00000361608:p.Leu117Val	38.0	0.0		34.0	5.0	NM_001198934	Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	hg19	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	C	3.628	-0.076076	0.07184	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	T;T	0.42513	0.97;0.97	5.94	1.56	0.23342	.	0.709261	0.13904	N	0.354722	T	0.11495	0.0280	L	0.29908	0.895	0.28209	N	0.927008	B;B	0.19073	0.033;0.02	B;B	0.15484	0.013;0.006	T	0.31166	-0.9953	10	0.21540	T	0.41	-1.104	9.8227	0.40891	0.0:0.687:0.1343:0.1788	.	74;117	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	V	117;74	ENSP00000361608:L117V;ENSP00000244533:L74V	ENSP00000244533:L74V	L	+	1	2	ABCC10	43508045	0.055000	0.20627	1.000000	0.80357	0.018000	0.09664	-0.450000	0.06803	0.324000	0.23333	0.561000	0.74099	CTG	.	.		0.652	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450	
PKHD1	5314	hgsc.bcm.edu	37	6	51524481	51524481	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:51524481C>A	ENST00000371117.3	-	61	10718	c.10443G>T	c.(10441-10443)ttG>ttT	p.L3481F		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3481					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAAAAGCGCAAAACTTGAG	0.443																																					p.L3481F		Atlas-SNP	.											.	PKHD1	927	.	0			c.G10443T						.						77.0	79.0	78.0					6																	51524481		2203	4300	6503	SO:0001583	missense	5314	exon61			AAAGCGCAAAACT	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.10443G>T	chr6.hg19:g.51524481C>A	ENSP00000360158:p.Leu3481Phe	123.0	0.0		109.0	38.0	NM_138694	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	hg19	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	10.80	1.452662	0.26074	.	.	ENSG00000170927	ENST00000371117	D	0.89270	-2.49	5.72	3.96	0.45880	.	0.301940	0.27577	N	0.018760	T	0.65903	0.2736	N	0.17082	0.46	0.54753	D	0.999989	B	0.25719	0.132	B	0.17098	0.017	T	0.63607	-0.6599	10	0.41790	T	0.15	.	8.0397	0.30515	0.0:0.7101:0.1406:0.1493	.	3481	P08F94	PKHD1_HUMAN	F	3481	ENSP00000360158:L3481F	ENSP00000360158:L3481F	L	-	3	2	PKHD1	51632440	0.996000	0.38824	0.610000	0.28997	0.909000	0.53808	0.439000	0.21575	0.778000	0.33520	-0.137000	0.14449	TTG	.	.		0.443	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
TBC1D32	221322	hgsc.bcm.edu	37	6	121452855	121452855	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:121452855A>C	ENST00000398212.2	-	25	2866	c.2817T>G	c.(2815-2817)gaT>gaG	p.D939E	TBC1D32_ENST00000275159.6_Missense_Mutation_p.D980E|TBC1D32_ENST00000398197.2_5'UTR	NM_152730.4	NP_689943.4	Q96NH3	BROMI_HUMAN	TBC1 domain family, member 32	939					cilium morphogenesis (GO:0060271)|embryonic digit morphogenesis (GO:0042733)|lens development in camera-type eye (GO:0002088)|protein localization to cilium (GO:0061512)|retinal pigment epithelium development (GO:0003406)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	cilium (GO:0005929)|cytoplasm (GO:0005737)	Rab GTPase activator activity (GO:0005097)										CAGTTTGTTTATCAGATATTT	0.303																																					p.D939E		Atlas-SNP	.											.	C6orf170	146	.	0			c.T2817G						.						88.0	81.0	83.0					6																	121452855		1798	4073	5871	SO:0001583	missense	221322	exon25			TTGTTTATCAGAT	AK055461	CCDS43501.1	6q22.31	2014-02-20	2013-07-10	2013-07-10	ENSG00000146350	ENSG00000146350			21485	protein-coding gene	gene with protein product	"""broad-minded homolog"""	615867	"""chromosome 6 open reading frame 171"", ""chromosome 6 open reading frame 170"""	C6orf171, C6orf170		20159594, 24285566	Standard	NM_152730		Approved	FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI	uc003pyo.1	Q96NH3	OTTHUMG00000015474	ENST00000398212.2:c.2817T>G	chr6.hg19:g.121452855A>C	ENSP00000381270:p.Asp939Glu	45.0	0.0		23.0	15.0	NM_152730	Q5SZD6|Q5SZM6|Q6ZMY4|Q6ZUR7|Q8NB47	Missense_Mutation	SNP	ENST00000398212.2	hg19	CCDS43501.1	.	.	.	.	.	.	.	.	.	.	A	15.00	2.702377	0.48307	.	.	ENSG00000146350	ENST00000275159;ENST00000398212	T;T	0.16597	2.33;2.33	5.37	2.95	0.34219	.	0.410154	0.27245	N	0.020260	T	0.03608	0.0103	L	0.42245	1.32	0.30354	N	0.784461	B;B	0.10296	0.003;0.002	B;B	0.11329	0.006;0.005	T	0.40850	-0.9541	10	0.14656	T	0.56	.	3.9851	0.09513	0.6674:0.1333:0.0715:0.1278	.	980;939	Q96NH3-4;Q96NH3	.;BROMI_HUMAN	E	980;939	ENSP00000275159:D980E;ENSP00000381270:D939E	ENSP00000275159:D980E	D	-	3	2	C6orf170	121494554	0.998000	0.40836	1.000000	0.80357	0.565000	0.35776	0.444000	0.21661	0.828000	0.34709	0.477000	0.44152	GAT	.	.		0.303	TBC1D32-005	PUTATIVE	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380937.2	NM_152730	
TRDN	10345	hgsc.bcm.edu	37	6	123658791	123658791	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:123658791T>C	ENST00000398178.3	-	22	1414	c.1393A>G	c.(1393-1395)Aag>Gag	p.K465E	TRDN_ENST00000334268.4_Missense_Mutation_p.K465E	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	465					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GAAGAAGTCTTCCCAGATTTT	0.279																																					p.K465E		Atlas-SNP	.											.	TRDN	88	.	0			c.A1393G						.						24.0	22.0	23.0					6																	123658791		1184	2563	3747	SO:0001583	missense	10345	exon22			AAGTCTTCCCAGA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1393A>G	chr6.hg19:g.123658791T>C	ENSP00000381240:p.Lys465Glu	187.0	0.0		103.0	6.0	NM_006073	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	ENST00000398178.3	hg19	CCDS55053.1	.	.	.	.	.	.	.	.	.	.	T	12.24	1.878343	0.33162	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.18960	2.18;2.19	4.68	4.68	0.58851	.	0.000000	0.44483	D	0.000454	T	0.05456	0.0144	N	0.24115	0.695	0.80722	D	1	P	0.46784	0.884	B	0.37731	0.257	T	0.30475	-0.9977	10	0.20519	T	0.43	-1.4364	10.7071	0.45960	0.0:0.0:0.0:1.0	.	465	Q13061	TRDN_HUMAN	E	465;467;465	ENSP00000381240:K465E;ENSP00000333984:K465E	ENSP00000333984:K465E	K	-	1	0	TRDN	123700490	1.000000	0.71417	0.728000	0.30774	0.137000	0.21094	3.858000	0.55979	2.107000	0.64212	0.528000	0.53228	AAG	.	.		0.279	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
LAMA2	3908	hgsc.bcm.edu	37	6	129704303	129704303	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:129704303C>T	ENST00000421865.2	+	35	5045	c.4996C>T	c.(4996-4998)Cag>Tag	p.Q1666*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1666	Domain II and I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GCAGACCGGACAGGATGCTGA	0.438																																					p.Q1666X		Atlas-SNP	.											.	LAMA2	481	.	0			c.C4996T						.						82.0	85.0	84.0					6																	129704303		2203	4300	6503	SO:0001587	stop_gained	3908	exon35			ACCGGACAGGATG	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.4996C>T	chr6.hg19:g.129704303C>T	ENSP00000400365:p.Gln1666*	166.0	0.0		66.0	38.0	NM_000426	Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	hg19	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	45	11.598638	0.99580	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.63	5.63	0.86233	.	0.127355	0.56097	D	0.000039	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.8347	0.70175	0.1439:0.8561:0.0:0.0	.	.	.	.	X	1666	.	ENSP00000346769:Q1666X	Q	+	1	0	LAMA2	129745996	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.771000	0.47670	2.814000	0.96858	0.563000	0.77884	CAG	.	.		0.438	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
SAMD5	389432	hgsc.bcm.edu	37	6	147830394	147830394	+	Silent	SNP	T	T	C	rs370342734		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:147830394T>C	ENST00000367474.1	+	1	332	c.330T>C	c.(328-330)tcT>tcC	p.S110S		NM_001030060.2	NP_001025231.1	Q5TGI4	SAMD5_HUMAN	sterile alpha motif domain containing 5	110													Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;9.55e-10)|GBM - Glioblastoma multiforme(68;0.112)		gcggggACTCTCGCGGCCACA	0.756																																					p.S110S		Atlas-SNP	.											.	SAMD5	4	.	0			c.T330C						.						11.0	11.0	11.0					6																	147830394		2184	4277	6461	SO:0001819	synonymous_variant	389432	exon1			GGACTCTCGCGGC	AL354880	CCDS34548.1	6q24.3	2013-01-10			ENSG00000203727	ENSG00000203727		"""Sterile alpha motif (SAM) domain containing"""	21180	protein-coding gene	gene with protein product							Standard	NM_001030060		Approved	dJ875H10.1	uc003qmc.2	Q5TGI4	OTTHUMG00000015767	ENST00000367474.1:c.330T>C	chr6.hg19:g.147830394T>C		70.0	0.0		41.0	13.0	NM_001030060		Silent	SNP	ENST00000367474.1	hg19	CCDS34548.1																																																																																			.	.		0.756	SAMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042610.1	NM_001030060	
RUNDC3B	154661	hgsc.bcm.edu	37	7	87459284	87459284	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr7:87459284C>G	ENST00000338056.3	+	12	1772	c.1361C>G	c.(1360-1362)tCt>tGt	p.S454C	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.S388C|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.S437C	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	454										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGCTTAAAATCTAATGACTAC	0.373																																					p.S454C		Atlas-SNP	.											.	RUNDC3B	63	.	0			c.C1361G						.						124.0	121.0	122.0					7																	87459284		2203	4300	6503	SO:0001583	missense	154661	exon12			TAAAATCTAATGA		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.1361C>G	chr7.hg19:g.87459284C>G	ENSP00000337732:p.Ser454Cys	123.0	0.0		117.0	39.0	NM_138290	B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	hg19	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.622580	0.87460	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.36520	1.86;1.25;1.84	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.57489	0.2057	L	0.59436	1.845	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.79784	0.993;0.992;0.992;0.993	T	0.53954	-0.8365	10	0.45353	T	0.12	-7.726	17.7312	0.88378	0.0:1.0:0.0:0.0	.	437;310;388;454	E9PBR4;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;RUN3B_HUMAN	C	454;388;437	ENSP00000337732:S454C;ENSP00000420394:S388C;ENSP00000378149:S437C	ENSP00000337732:S454C	S	+	2	0	RUNDC3B	87297220	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.539000	0.67199	2.628000	0.89032	0.585000	0.79938	TCT	.	.		0.373	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121653745	121653745	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr7:121653745A>C	ENST00000393386.2	+	12	5056	c.4645A>C	c.(4645-4647)Agt>Cgt	p.S1549R	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1549					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGATGAAGAAAGTGGATCAGG	0.433																																					p.S1549R		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.A4645C						.						129.0	121.0	124.0					7																	121653745		2203	4300	6503	SO:0001583	missense	5803	exon12			GAAGAAAGTGGAT	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4645A>C	chr7.hg19:g.121653745A>C	ENSP00000377047:p.Ser1549Arg	189.0	0.0		145.0	48.0	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	18.91	3.723460	0.68959	.	.	ENSG00000106278	ENST00000393386	T	0.57273	0.41	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.53351	0.1791	M	0.71581	2.175	0.80722	D	1	P	0.39480	0.675	B	0.35353	0.201	T	0.60000	-0.7348	10	0.56958	D	0.05	.	16.3473	0.83146	1.0:0.0:0.0:0.0	.	1549	P23471	PTPRZ_HUMAN	R	1549	ENSP00000377047:S1549R	ENSP00000377047:S1549R	S	+	1	0	PTPRZ1	121440981	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.451000	0.80668	2.320000	0.78422	0.528000	0.53228	AGT	.	.		0.433	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	
EGR3	1960	hgsc.bcm.edu	37	8	22548606	22548606	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:22548606C>A	ENST00000317216.2	-	2	901	c.544G>T	c.(544-546)Gcg>Tcg	p.A182S	EGR3_ENST00000522910.1_Missense_Mutation_p.A144S|EGR3_ENST00000519492.1_3'UTR|RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	182					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|circadian rhythm (GO:0007623)|endothelial cell chemotaxis (GO:0035767)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|neuromuscular synaptic transmission (GO:0007274)|peripheral nervous system development (GO:0007422)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of gamma-delta T cell differentiation (GO:0045586)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		CTGTCCAACGCCGGCTTGGCC	0.602																																					p.A182S		Atlas-SNP	.											.	EGR3	33	.	0			c.G544T						.						59.0	61.0	61.0					8																	22548606		2203	4300	6503	SO:0001583	missense	1960	exon2			CCAACGCCGGCTT	X63741	CCDS6033.1, CCDS56528.1	8p23-p21	2013-01-08			ENSG00000179388	ENSG00000179388		"""Zinc fingers, C2H2-type"""	3240	protein-coding gene	gene with protein product	"""zinc finger protein pilot"""	602419				1906159, 11909874	Standard	NM_004430		Approved	PILOT	uc003xcm.1	Q06889	OTTHUMG00000097825	ENST00000317216.2:c.544G>T	chr8.hg19:g.22548606C>A	ENSP00000318057:p.Ala182Ser	144.0	0.0		77.0	47.0	NM_004430	A8K8U9|B4DHJ5|E7EW38|Q2M3W2	Missense_Mutation	SNP	ENST00000317216.2	hg19	CCDS6033.1	.	.	.	.	.	.	.	.	.	.	C	5.717	0.316839	0.10845	.	.	ENSG00000179388	ENST00000317216;ENST00000522910	T;T	0.07908	3.15;3.17	5.52	4.63	0.57726	.	0.273629	0.35235	N	0.003354	T	0.05502	0.0145	N	0.19112	0.55	0.80722	D	1	B;B	0.18013	0.025;0.025	B;B	0.25506	0.061;0.036	T	0.40961	-0.9535	10	0.15952	T	0.53	-17.9063	8.8927	0.35444	0.0:0.8307:0.0:0.1693	.	144;182	E7EW38;Q06889	.;EGR3_HUMAN	S	182;144	ENSP00000318057:A182S;ENSP00000430310:A144S	ENSP00000318057:A182S	A	-	1	0	EGR3	22604551	0.902000	0.30710	0.999000	0.59377	0.989000	0.77384	1.628000	0.37060	2.586000	0.87340	0.561000	0.74099	GCG	.	.		0.602	EGR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215098.1	NM_004430	
SCARA5	286133	hgsc.bcm.edu	37	8	27824054	27824054	+	Missense_Mutation	SNP	A	A	G	rs111460095		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:27824054A>G	ENST00000354914.3	-	3	603	c.118T>C	c.(118-120)Tgt>Cgt	p.C40R	SCARA5_ENST00000301906.4_Intron|SCARA5_ENST00000518030.1_Intron|SCARA5_ENST00000380385.2_Missense_Mutation_p.C40R|SCARA5_ENST00000524352.1_Missense_Mutation_p.C40R	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5	40					cellular iron ion homeostasis (GO:0006879)|cellular response to heat (GO:0034605)|endocytosis (GO:0006897)|iron ion transmembrane transport (GO:0034755)|protein homotrimerization (GO:0070207)|receptor-mediated endocytosis (GO:0006898)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)	ferritin receptor activity (GO:0070287)|scavenger receptor activity (GO:0005044)			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		CGTTTGTGACATGGACCTGGA	0.517																																					p.C40R		Atlas-SNP	.											.	SCARA5	53	.	0			c.T118C						.						93.0	102.0	99.0					8																	27824054		2203	4300	6503	SO:0001583	missense	286133	exon3			TGTGACATGGACC	AK172746	CCDS6064.1	8p21.1	2014-07-08	2014-07-08		ENSG00000168079	ENSG00000168079			28701	protein-coding gene	gene with protein product		611306	"""scavenger receptor class A, member 5 (putative)"""			19154717	Standard	NM_173833		Approved	FLJ23907, MGC45780, NET33	uc003xgj.3	Q6ZMJ2	OTTHUMG00000132172	ENST00000354914.3:c.118T>C	chr8.hg19:g.27824054A>G	ENSP00000346990:p.Cys40Arg	249.0	0.0		138.0	27.0	NM_173833	Q6UXZ1|Q7Z4A1|Q8N4Z7	Missense_Mutation	SNP	ENST00000354914.3	hg19	CCDS6064.1	.	.	.	.	.	.	.	.	.	.	A	8.173	0.792219	0.16258	.	.	ENSG00000168079	ENST00000354914;ENST00000380385;ENST00000524352	D;D;D	0.90563	-2.3;-2.29;-2.69	5.93	2.21	0.28008	.	0.293688	0.32120	N	0.006554	D	0.85712	0.5760	L	0.51422	1.61	0.26494	N	0.97489	B;B;B	0.25105	0.036;0.118;0.021	B;B;B	0.31245	0.059;0.126;0.036	T	0.74051	-0.3789	10	0.32370	T	0.25	.	6.352	0.21381	0.4588:0.4002:0.0:0.141	.	40;40;40	Q6ZMJ2-4;Q6ZMJ2-2;Q6ZMJ2	.;.;SCAR5_HUMAN	R	40	ENSP00000346990:C40R;ENSP00000369746:C40R;ENSP00000428663:C40R	ENSP00000346990:C40R	C	-	1	0	SCARA5	27879973	0.150000	0.22732	0.645000	0.29479	0.980000	0.70556	0.727000	0.25999	0.439000	0.26476	0.460000	0.39030	TGT	.	A|0.500;C|0.500		0.517	SCARA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255223.2	NM_173833	
KAT6A	7994	hgsc.bcm.edu	37	8	41906233	41906233	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:41906233T>A	ENST00000396930.3	-	3	806	c.263A>T	c.(262-264)cAt>cTt	p.H88L	KAT6A_ENST00000485568.1_Missense_Mutation_p.H88L|KAT6A_ENST00000265713.2_Missense_Mutation_p.H88L|KAT6A_ENST00000406337.1_Missense_Mutation_p.H88L	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	88	Required for activation of RUNX1-1.|Required for nuclear localization.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CAATTTTCCATGGTTCCGAGG	0.388																																					p.H88L		Atlas-SNP	.											.	.	.	.	0			c.A263T						.						141.0	143.0	142.0					8																	41906233		2203	4300	6503	SO:0001583	missense	7994	exon3			TTTCCATGGTTCC	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.263A>T	chr8.hg19:g.41906233T>A	ENSP00000380136:p.His88Leu	135.0	0.0		79.0	39.0	NM_001099412	Q76L81	Missense_Mutation	SNP	ENST00000396930.3	hg19	CCDS6124.1	.	.	.	.	.	.	.	.	.	.	T	13.23	2.175641	0.38413	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930;ENST00000485568	T;T;T;D	0.83506	0.32;0.32;0.32;-1.73	5.81	5.81	0.92471	.	0.077427	0.56097	D	0.000038	T	0.71953	0.3401	N	0.08118	0	0.46849	D	0.999227	B;P	0.44734	0.024;0.842	B;P	0.45343	0.008;0.477	T	0.71600	-0.4544	10	0.15499	T	0.54	-17.9016	16.1637	0.81739	0.0:0.0:0.0:1.0	.	88;88	A5PLL3;Q92794	.;KAT6A_HUMAN	L	88	ENSP00000265713:H88L;ENSP00000385888:H88L;ENSP00000380136:H88L;ENSP00000430606:H88L	ENSP00000265713:H88L	H	-	2	0	KAT6A	42025390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.206000	0.51098	2.216000	0.71823	0.533000	0.62120	CAT	.	.		0.388	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766	
MYBL1	4603	hgsc.bcm.edu	37	8	67488316	67488316	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:67488316C>A	ENST00000522677.3	-	10	1806	c.1396G>T	c.(1396-1398)Ggc>Tgc	p.G466C	MYBL1_ENST00000517885.1_Missense_Mutation_p.G124C|MYBL1_ENST00000524176.2_Missense_Mutation_p.G466C	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	466	Negative regulatory domain. {ECO:0000250}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TTCAATGAGCCATCCCTAAGT	0.438																																					p.G466C		Atlas-SNP	.											.	MYBL1	73	.	0			c.G1396T						.						111.0	101.0	104.0					8																	67488316		1961	4141	6102	SO:0001583	missense	4603	exon10			ATGAGCCATCCCT	X13294	CCDS47867.1, CCDS55241.1	8q22	2013-07-09	2013-07-09		ENSG00000185697	ENSG00000185697			7547	protein-coding gene	gene with protein product		159405					Standard	XM_005251251		Approved	AMYB, A-myb	uc003xwj.3	P10243	OTTHUMG00000164559	ENST00000522677.3:c.1396G>T	chr8.hg19:g.67488316C>A	ENSP00000429633:p.Gly466Cys	170.0	0.0		199.0	40.0	NM_001080416	E7EW29|Q495F9	Missense_Mutation	SNP	ENST00000522677.3	hg19	CCDS47867.1	.	.	.	.	.	.	.	.	.	.	C	8.091	0.774532	0.16051	.	.	ENSG00000185697	ENST00000522677;ENST00000517885;ENST00000524176	T;T;T	0.18338	2.7;2.24;2.22	5.46	2.72	0.32119	.	0.368259	0.31233	N	0.008009	T	0.14570	0.0352	N	0.24115	0.695	0.28161	N	0.928984	B;P;P	0.49696	0.001;0.927;0.661	B;P;B	0.47673	0.002;0.554;0.285	T	0.04635	-1.0937	10	0.72032	D	0.01	-1.4465	9.1505	0.36959	0.0:0.7749:0.0:0.2251	.	466;465;466	Q495F9;Q495G0;P10243	.;.;MYBA_HUMAN	C	466;124;466	ENSP00000429633:G466C;ENSP00000428265:G124C;ENSP00000428011:G466C	ENSP00000428265:G124C	G	-	1	0	MYBL1	67650870	0.832000	0.29368	0.039000	0.18376	0.196000	0.23810	0.956000	0.29202	0.294000	0.22547	0.591000	0.81541	GGC	.	.		0.438	MYBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379221.3	XM_034274	
KLF10	7071	hgsc.bcm.edu	37	8	103664417	103664417	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:103664417G>C	ENST00000285407.6	-	2	545	c.245C>G	c.(244-246)cCt>cGt	p.P82R	KLF10_ENST00000395884.3_Missense_Mutation_p.P71R	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	82					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGAAAATCAGGTGTTCCCGG	0.313											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.P82R	Esophageal Squamous(16;495 519 2144 16528 44005)	Atlas-SNP	.											.	KLF10	44	.	0			c.C245G						.						65.0	65.0	65.0					8																	103664417		2203	4300	6503	SO:0001583	missense	7071	exon2			AAATCAGGTGTTC	U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.245C>G	chr8.hg19:g.103664417G>C	ENSP00000285407:p.Pro82Arg	94.0	0.0	1375	118.0	71.0	NM_005655	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	ENST00000285407.6	hg19	CCDS6294.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.679879	0.29783	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.14266	2.52;2.58	6.01	6.01	0.97437	.	0.323388	0.30930	N	0.008594	T	0.11153	0.0272	L	0.36672	1.1	0.09310	N	1	P;B	0.42409	0.779;0.309	B;B	0.33690	0.168;0.055	T	0.27872	-1.0061	10	0.49607	T	0.09	.	13.6832	0.62499	0.0701:0.0:0.9299:0.0	.	82;71	Q13118;O75411	KLF10_HUMAN;.	R	82;71	ENSP00000285407:P82R;ENSP00000379222:P71R	ENSP00000285407:P82R	P	-	2	0	KLF10	103733593	0.954000	0.32549	0.907000	0.35723	0.873000	0.50193	4.933000	0.63484	2.861000	0.98227	0.650000	0.86243	CCT	.	.		0.313	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379967.1		
DGAT1	8694	hgsc.bcm.edu	37	8	145540696	145540696	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:145540696A>C	ENST00000332324.4	-	15	1510	c.1237T>G	c.(1237-1239)Ttc>Gtc	p.F413V	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	413					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TCGTGGAAGAAGGCCGAGGCC	0.637																																					p.F413V		Atlas-SNP	.											.	DGAT1	26	.	0			c.T1237G						.						56.0	56.0	56.0					8																	145540696		2203	4296	6499	SO:0001583	missense	8694	exon15			GGAAGAAGGCCGA	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1237T>G	chr8.hg19:g.145540696A>C	ENSP00000332258:p.Phe413Val	82.0	0.0		85.0	43.0	NM_012079	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	ENST00000332324.4	hg19	CCDS6420.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.1|23.1	4.371347|4.371347	0.82573|0.82573	.|.	.|.	ENSG00000185000|ENSG00000185000	ENST00000332324|ENST00000526479	T|.	0.68025|.	-0.3|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50837|0.50837	0.1639|0.1639	L|L	0.28115|0.28115	0.83|0.83	0.80722|0.80722	D|D	1|1	P|D	0.52061|0.58620	0.95|0.983	P|P	0.60012|0.58331	0.867|0.837	T|T	0.39078|0.39078	-0.9631|-0.9631	10|8	0.14656|0.15499	T|T	0.56|0.54	-19.1825|-19.1825	11.8781|11.8781	0.52558|0.52558	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	413|247	O75907|E9PS80	DGAT1_HUMAN|.	V|R	413|247	ENSP00000332258:F413V|.	ENSP00000332258:F413V|ENSP00000435883:L247R	F|L	-|-	1|2	0|0	DGAT1|DGAT1	145511504|145511504	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.967000|0.967000	0.64934|0.64934	8.416000|8.416000	0.90244|0.90244	1.917000|1.917000	0.55516|0.55516	0.459000|0.459000	0.35465|0.35465	TTC|CTT	.	.		0.637	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079	
ZNF7	7553	hgsc.bcm.edu	37	8	146054920	146054920	+	Silent	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr8:146054920C>T	ENST00000528372.1	+	3	301	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	ZNF7_ENST00000325241.6_Silent_p.L21L|ZNF7_ENST00000325217.5_Silent_p.L32L|ZNF7_ENST00000532393.1_Intron|ZNF7_ENST00000544249.1_Intron|ZNF7_ENST00000529819.1_Silent_p.L21L|ZNF7_ENST00000528130.1_Silent_p.L21L|ZNF7_ENST00000446747.2_Silent_p.L32L|ZNF7_ENST00000525266.1_Silent_p.L21L			P17097	ZNF7_HUMAN	zinc finger protein 7	21	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GTGGCAGTGTCTGGACCCTGG	0.612																																					p.L21L		Atlas-SNP	.											.	ZNF7	62	.	0			c.C61T						.						167.0	139.0	149.0					8																	146054920		2203	4300	6503	SO:0001819	synonymous_variant	7553	exon3			CAGTGTCTGGACC	AB209619	CCDS6435.1, CCDS64996.1, CCDS64998.1, CCDS64999.1	8q24	2013-01-08	2006-05-09		ENSG00000147789	ENSG00000147789		"""Zinc fingers, C2H2-type"", ""-"""	13139	protein-coding gene	gene with protein product		194531	"""zinc finger protein 7 (KOX 4, clone HF.16)"""			2106481, 1946370	Standard	NM_003416		Approved	KOX4, HF.16	uc003zeg.4	P17097	OTTHUMG00000165200	ENST00000528372.1:c.61C>T	chr8.hg19:g.146054920C>T		156.0	0.0		169.0	45.0	NM_003416	B4DT08|D3DWN6|P17015|Q8N8Y4	Silent	SNP	ENST00000528372.1	hg19	CCDS6435.1																																																																																			.	.		0.612	ZNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382660.1	NM_003416	
DENND4C	55667	hgsc.bcm.edu	37	9	19372063	19372063	+	Silent	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr9:19372063A>G	ENST00000380432.2	+	28	4947	c.4914A>G	c.(4912-4914)gcA>gcG	p.A1638A	DENND4C_ENST00000602925.1_Silent_p.A1874A|RP11-513M16.7_ENST00000609609.1_RNA|DENND4C_ENST00000434457.2_Silent_p.A1923A			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1638					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATGGAATTGCATACAATAGTC	0.383																																					p.A1874A		Atlas-SNP	.											.	DENND4C	120	.	0			c.A5622G						.						92.0	101.0	98.0					9																	19372063		2203	4300	6503	SO:0001819	synonymous_variant	55667	exon32			AATTGCATACAAT	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4914A>G	chr9.hg19:g.19372063A>G		148.0	0.0		77.0	41.0	NM_017925	A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Silent	SNP	ENST00000380432.2	hg19																																																																																				.	.		0.383	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925	
TAF1L	138474	hgsc.bcm.edu	37	9	32631818	32631818	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr9:32631818T>G	ENST00000242310.4	-	1	3849	c.3760A>C	c.(3760-3762)Aag>Cag	p.K1254Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1254					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGTTCCGCTTAAGCCGCCTC	0.458																																					p.K1254Q		Atlas-SNP	.											.	TAF1L	382	.	0			c.A3760C						.						89.0	89.0	89.0					9																	32631818		2203	4300	6503	SO:0001583	missense	138474	exon1			TCCGCTTAAGCCG	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3760A>C	chr9.hg19:g.32631818T>G	ENSP00000418379:p.Lys1254Gln	311.0	1.0		262.0	97.0	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	hg19	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	17.31	3.357001	0.61293	.	.	ENSG00000122728	ENST00000242310	T	0.64085	-0.08	1.04	-1.18	0.09617	.	0.135428	0.64402	D	0.000003	T	0.64316	0.2587	L	0.52573	1.65	0.49389	D	0.999784	D	0.89917	1.0	D	0.70935	0.971	T	0.61237	-0.7103	10	0.42905	T	0.14	.	4.6615	0.12645	0.0:0.0:0.3144:0.6856	.	1254	Q8IZX4	TAF1L_HUMAN	Q	1254	ENSP00000418379:K1254Q	ENSP00000418379:K1254Q	K	-	1	0	TAF1L	32621818	1.000000	0.71417	0.994000	0.49952	0.392000	0.30506	5.064000	0.64338	0.426000	0.26116	0.164000	0.16699	AAG	.	.		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TAF1L	138474	hgsc.bcm.edu	37	9	32631838	32631838	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr9:32631838T>A	ENST00000242310.4	-	1	3829	c.3740A>T	c.(3739-3741)cAa>cTa	p.Q1247L	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1247					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAGTTGCTCTTGAATCCTCCG	0.453																																					p.Q1247L		Atlas-SNP	.											.	TAF1L	382	.	0			c.A3740T						.						93.0	91.0	92.0					9																	32631838		2203	4300	6503	SO:0001583	missense	138474	exon1			TGCTCTTGAATCC	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3740A>T	chr9.hg19:g.32631838T>A	ENSP00000418379:p.Gln1247Leu	320.0	1.0		275.0	98.0	NM_153809	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	hg19	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	15.00	2.704197	0.48412	.	.	ENSG00000122728	ENST00000242310	T	0.65178	-0.14	1.04	1.04	0.20106	.	0.000000	0.85682	D	0.000000	T	0.67822	0.2934	L	0.54323	1.7	0.58432	D	0.999998	D	0.61697	0.99	D	0.68192	0.956	T	0.65981	-0.6036	10	0.87932	D	0	.	5.8599	0.18740	0.0:0.0:0.0:1.0	.	1247	Q8IZX4	TAF1L_HUMAN	L	1247	ENSP00000418379:Q1247L	ENSP00000418379:Q1247L	Q	-	2	0	TAF1L	32621838	1.000000	0.71417	0.981000	0.43875	0.373000	0.29922	5.064000	0.64338	0.426000	0.26116	0.164000	0.16699	CAA	.	.		0.453	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
ISCA1	81689	hgsc.bcm.edu	37	9	88889128	88889128	+	Silent	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr9:88889128T>C	ENST00000375991.4	-	2	181	c.111A>G	c.(109-111)caA>caG	p.Q37Q	ISCA1_ENST00000311534.6_5'UTR|ISCA1_ENST00000326094.4_Silent_p.Q37Q|ISCA1_ENST00000452279.2_Silent_p.Q84Q	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	37					iron-sulfur cluster assembly (GO:0016226)	mitochondrion (GO:0005739)	iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		CTTTAAGAAGTTGTTTTATCT	0.303																																					p.Q37Q		Atlas-SNP	.											.	ISCA1	10	.	0			c.A111G						.						75.0	75.0	75.0					9																	88889128		2203	4297	6500	SO:0001819	synonymous_variant	81689	exon2			AAGAAGTTGTTTT	AF038186	CCDS35056.1	9q22.1	2013-08-06	2013-08-06	2007-01-18	ENSG00000135070	ENSG00000135070			28660	protein-coding gene	gene with protein product		611006	"""HESB like domain containing 2"", ""iron-sulfur cluster assembly 1 homolog (S. cerevisiae)"""	HBLD2		15262227, 22323289	Standard	NM_030940		Approved	MGC4276, ISA1, hIscA	uc004aop.3	Q9BUE6	OTTHUMG00000020135	ENST00000375991.4:c.111A>G	chr9.hg19:g.88889128T>C		82.0	0.0		59.0	30.0	NM_030940	B3KP34|B4DJI5|Q8ND75|Q9BZR2	Silent	SNP	ENST00000375991.4	hg19	CCDS35056.1																																																																																			.	.		0.303	ISCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052914.1	NM_030940	
GLE1	2733	hgsc.bcm.edu	37	9	131289570	131289570	+	Splice_Site	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr9:131289570G>T	ENST00000309971.4	+	8	1348	c.1242G>T	c.(1240-1242)caG>caT	p.Q414H	RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000494417.1_3'UTR|GLE1_ENST00000372770.4_Splice_Site_p.Q414H|GLE1_ENST00000539582.1_Splice_Site_p.Q160H	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	414					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear pore (GO:0005643)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						AGGACAGTCAGGTAGGGGAGA	0.483																																					p.Q414H		Atlas-SNP	.											.	GLE1	42	.	0			c.G1242T						.						108.0	97.0	101.0					9																	131289570		2203	4300	6503	SO:0001630	splice_region_variant	2733	exon8			CAGTCAGGTAGGG	AF058922	CCDS6904.1, CCDS35154.1	9q34.13	2014-09-17	2013-06-18	2007-10-04	ENSG00000119392	ENSG00000119392			4315	protein-coding gene	gene with protein product		603371	"""GLE1 (yeast homolog)-like, RNA export mediator"", ""GLE1 RNA export mediator-like (yeast)"", ""GLE1 RNA export mediator (yeast)"", ""lethal congenital contracture syndrome 1"", ""GLE1 RNA export mediator homolog (yeast)"""	GLE1L, LCCS1		9618489, 18204449	Standard	NM_001499		Approved	hGLE1	uc004bvj.3	Q53GS7	OTTHUMG00000020749	ENST00000309971.4:c.1242+1G>T	chr9.hg19:g.131289570G>T		52.0	0.0		51.0	4.0	NM_001499	O75458|Q53GT9|Q5VVU1|Q8NCP6|Q9UFL6	Missense_Mutation	SNP	ENST00000309971.4	hg19	CCDS35154.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580575	0.65992	.	.	ENSG00000119392	ENST00000309971;ENST00000372770;ENST00000539582	T;T;T	0.73047	-0.71;-0.71;-0.71	5.66	5.66	0.87406	.	0.107189	0.64402	D	0.000003	D	0.82935	0.5145	M	0.69823	2.125	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.69307	0.963;0.957	D	0.83931	0.0306	10	0.62326	D	0.03	-28.5061	16.9119	0.86142	0.0:0.0:1.0:0.0	.	414;414	Q53GS7;Q53GS7-2	GLE1_HUMAN;.	H	414;414;160	ENSP00000308622:Q414H;ENSP00000361856:Q414H;ENSP00000438670:Q160H	ENSP00000308622:Q414H	Q	+	3	2	GLE1	130329391	1.000000	0.71417	1.000000	0.80357	0.113000	0.19764	9.430000	0.97488	2.671000	0.90904	0.650000	0.86243	CAG	.	.		0.483	GLE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054456.1	NM_001003722	Missense_Mutation
PPP1R26	9858	hgsc.bcm.edu	37	9	138376480	138376480	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr9:138376480T>A	ENST00000356818.2	+	4	673	c.124T>A	c.(124-126)Tcg>Acg	p.S42T	PPP1R26_ENST00000604351.1_Missense_Mutation_p.S42T|PPP1R26_ENST00000605660.1_Missense_Mutation_p.S42T|PPP1R26_ENST00000401470.3_Missense_Mutation_p.S42T|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605286.1_Missense_Mutation_p.S42T	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	42					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGAGAGCGCGTCGGTGAGCGC	0.682																																					p.S42T		Atlas-SNP	.											.	.	.	.	0			c.T124A						.						41.0	50.0	47.0					9																	138376480		2203	4299	6502	SO:0001583	missense	9858	exon4			AGCGCGTCGGTGA	AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.124T>A	chr9.hg19:g.138376480T>A	ENSP00000349274:p.Ser42Thr	66.0	0.0		48.0	16.0	NM_014811	Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	ENST00000356818.2	hg19	CCDS6988.1	.	.	.	.	.	.	.	.	.	.	T	6.921	0.539601	0.13250	.	.	ENSG00000196422	ENST00000356818;ENST00000401470	T;T	0.22945	1.93;1.93	5.32	-4.79	0.03200	.	0.574317	0.18009	N	0.154630	T	0.21062	0.0507	L	0.44542	1.39	0.19575	N	0.999969	B	0.26002	0.139	B	0.20184	0.028	T	0.23013	-1.0200	10	0.66056	D	0.02	-10.5474	18.3484	0.90329	0.0:0.0:0.2205:0.7795	.	42	Q5T8A7	PPR26_HUMAN	T	42	ENSP00000349274:S42T;ENSP00000385826:S42T	ENSP00000349274:S42T	S	+	1	0	KIAA0649	137516301	0.002000	0.14202	0.001000	0.08648	0.014000	0.08584	-0.012000	0.12699	-0.515000	0.06479	-1.542000	0.00909	TCG	.	.		0.682	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054987.1	NM_014811	
PLXDC2	84898	hgsc.bcm.edu	37	10	20290907	20290907	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr10:20290907C>T	ENST00000377252.4	+	2	1157	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	PLXDC2_ENST00000377242.3_Nonsense_Mutation_p.Q106*	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	106					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						CAATAACACTCAGATCGAGGT	0.448																																					p.Q106X		Atlas-SNP	.											.	PLXDC2	108	.	0			c.C316T						.						62.0	58.0	59.0					10																	20290907		2203	4300	6503	SO:0001587	stop_gained	84898	exon2			AACACTCAGATCG	AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.316C>T	chr10.hg19:g.20290907C>T	ENSP00000366460:p.Gln106*	211.0	0.0		151.0	53.0	NM_032812	Q96E59|Q96PD9|Q96SU9	Nonsense_Mutation	SNP	ENST00000377252.4	hg19	CCDS7132.1	.	.	.	.	.	.	.	.	.	.	C	42	9.696264	0.99241	.	.	ENSG00000120594	ENST00000377252;ENST00000377242;ENST00000536022	.	.	.	5.79	4.87	0.63330	.	0.265356	0.44902	D	0.000407	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.454	0.75299	0.0:0.8519:0.1481:0.0	.	.	.	.	X	106;106;92	.	ENSP00000366450:Q106X	Q	+	1	0	PLXDC2	20330913	0.984000	0.35163	0.997000	0.53966	0.195000	0.23768	2.613000	0.46351	1.385000	0.46445	0.650000	0.86243	CAG	.	.		0.448	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047101.2	NM_032812	
ARMC3	219681	hgsc.bcm.edu	37	10	23235105	23235105	+	Silent	SNP	A	A	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr10:23235105A>T	ENST00000298032.5	+	3	165	c.81A>T	c.(79-81)gcA>gcT	p.A27A	ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409983.3_Silent_p.A27A|ARMC3_ENST00000409049.3_Silent_p.A27A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	27						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAAAAAAGCAGCAACTGTGG	0.318																																					p.A27A		Atlas-SNP	.											.	ARMC3	102	.	0			c.A81T						.						89.0	95.0	93.0					10																	23235105		2203	4300	6503	SO:0001819	synonymous_variant	219681	exon3			AAAAGCAGCAACT	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.81A>T	chr10.hg19:g.23235105A>T		91.0	0.0		83.0	24.0	NM_173081	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Silent	SNP	ENST00000298032.5	hg19	CCDS7142.1																																																																																			.	.		0.318	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
ZNF33A	7581	hgsc.bcm.edu	37	10	38344426	38344426	+	Silent	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr10:38344426A>G	ENST00000458705.2	+	5	1529	c.1371A>G	c.(1369-1371)gtA>gtG	p.V457V	ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Silent_p.V457V|ZNF33A_ENST00000432900.2_Silent_p.V464V|ZNF33A_ENST00000374618.3_Silent_p.V458V			Q06730	ZN33A_HUMAN	zinc finger protein 33A	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACCTTAAAGTACACCAGAGAA	0.408																																					p.V458V		Atlas-SNP	.											.	ZNF33A	103	.	0			c.A1374G						.						69.0	67.0	67.0					10																	38344426		2203	4300	6503	SO:0001819	synonymous_variant	7581	exon5			TAAAGTACACCAG	D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1371A>G	chr10.hg19:g.38344426A>G		137.0	0.0		97.0	32.0	NM_006954	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Silent	SNP	ENST00000458705.2	hg19	CCDS31182.1																																																																																			.	.		0.408	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047614.1	NM_006974	
TNKS2	80351	hgsc.bcm.edu	37	10	93619284	93619284	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr10:93619284A>G	ENST00000371627.4	+	25	3539	c.3160A>G	c.(3160-3162)Atg>Gtg	p.M1054V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1054	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				CATAGGTGGTATGTTTGGAGC	0.383																																					p.M1054V		Atlas-SNP	.											.	TNKS2	103	.	0			c.A3160G						.						129.0	127.0	127.0					10																	93619284		2203	4300	6503	SO:0001583	missense	80351	exon25			GGTGGTATGTTTG	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.3160A>G	chr10.hg19:g.93619284A>G	ENSP00000360689:p.Met1054Val	121.0	0.0		94.0	30.0	NM_025235	B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	hg19	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.338266	0.60963	.	.	ENSG00000107854	ENST00000371627	T	0.14766	2.48	5.75	5.75	0.90469	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	M	0.65498	2.005	0.58432	D	0.999999	D	0.63046	0.992	D	0.68621	0.959	T	0.07770	-1.0755	10	0.87932	D	0	.	16.0432	0.80698	1.0:0.0:0.0:0.0	.	1054	Q9H2K2	TNKS2_HUMAN	V	1054	ENSP00000360689:M1054V	ENSP00000360689:M1054V	M	+	1	0	TNKS2	93609264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.331000	0.96430	2.196000	0.70406	0.472000	0.43445	ATG	.	.		0.383	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235	
BTRC	8945	hgsc.bcm.edu	37	10	103292148	103292148	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr10:103292148G>A	ENST00000370187.3	+	8	1055	c.937G>A	c.(937-939)Gat>Aat	p.D313N	BTRC_ENST00000393441.4_Missense_Mutation_p.D272N|BTRC_ENST00000408038.2_Missense_Mutation_p.D277N	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	313					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		ACAGTATGATGATCAGAAAAT	0.403																																					p.D313N		Atlas-SNP	.											.	BTRC	64	.	0			c.G937A						.						135.0	132.0	133.0					10																	103292148		2203	4300	6503	SO:0001583	missense	8945	exon8			TATGATGATCAGA	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.937G>A	chr10.hg19:g.103292148G>A	ENSP00000359206:p.Asp313Asn	84.0	0.0		46.0	11.0	NM_033637	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	hg19	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	G	35	5.475137	0.96291	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038	T;T;T	0.60424	0.19;0.19;0.19	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.70037	0.3178	L	0.39020	1.185	0.80722	D	1	D;P;D	0.89917	0.999;0.784;1.0	D;P;D	0.91635	0.979;0.562;0.999	T	0.66787	-0.5835	10	0.42905	T	0.14	-16.559	20.4008	0.98991	0.0:0.0:1.0:0.0	.	287;277;313	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	N	313;272;277	ENSP00000359206:D313N;ENSP00000377088:D272N;ENSP00000385339:D277N	ENSP00000359206:D313N	D	+	1	0	BTRC	103282138	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	9.869000	0.99810	2.826000	0.97356	0.655000	0.94253	GAT	.	.		0.403	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637	
F2	2147	hgsc.bcm.edu	37	11	46744939	46744939	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr11:46744939T>C	ENST00000311907.5	+	6	486	c.430T>C	c.(430-432)Tcc>Ccc	p.S144P	F2_ENST00000530231.1_Missense_Mutation_p.S144P	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	144	Kringle 1. {ECO:0000255|PROSITE- ProRule:PRU00121}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	CAGAATCAACTCCACTACCCA	0.602																																					p.S144P	Esophageal Squamous(147;1147 1808 2148 38609 51144)	Atlas-SNP	.											.	F2	75	.	0			c.T430C						.						60.0	62.0	61.0					11																	46744939		2201	4299	6500	SO:0001583	missense	2147	exon6			ATCAACTCCACTA	M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.430T>C	chr11.hg19:g.46744939T>C	ENSP00000308541:p.Ser144Pro	124.0	0.0		117.0	42.0	NM_000506	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	hg19	CCDS31476.1	.	.	.	.	.	.	.	.	.	.	T	0.010	-1.774718	0.00640	.	.	ENSG00000180210	ENST00000311907;ENST00000530231;ENST00000442468	T;T;T	0.78707	-1.2;-1.2;-1.2	4.87	2.56	0.30785	Kringle (4);Kringle-like fold (1);	0.410383	0.29424	N	0.012183	T	0.43211	0.1237	N	0.01091	-1.02	0.26513	N	0.974565	B	0.10296	0.003	B	0.09377	0.004	T	0.40590	-0.9555	10	0.87932	D	0	.	1.1333	0.01749	0.1342:0.1717:0.2143:0.4798	.	144	P00734	THRB_HUMAN	P	144;144;134	ENSP00000308541:S144P;ENSP00000433907:S144P;ENSP00000387413:S134P	ENSP00000308541:S144P	S	+	1	0	F2	46701515	0.006000	0.16342	0.926000	0.36857	0.165000	0.22458	0.034000	0.13776	0.362000	0.24319	-0.444000	0.05651	TCC	.	.		0.602	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1		
OR5D14	219436	hgsc.bcm.edu	37	11	55563878	55563878	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr11:55563878G>T	ENST00000335605.1	+	1	847	c.847G>T	c.(847-849)Gtc>Ttc	p.V283F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTACACAGTTGTCAACCCCAT	0.428																																					p.V283F		Atlas-SNP	.											.	OR5D14	116	.	0			c.G847T						.						63.0	60.0	61.0					11																	55563878		2200	4296	6496	SO:0001583	missense	219436	exon1			ACAGTTGTCAACC	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.847G>T	chr11.hg19:g.55563878G>T	ENSP00000334456:p.Val283Phe	71.0	0.0		66.0	20.0	NM_001004735	Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	hg19	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	16.79	3.219575	0.58560	.	.	ENSG00000186113	ENST00000335605	T	0.00281	8.32	5.08	5.08	0.68730	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	N	0.001401	T	0.00496	0.0016	M	0.82132	2.575	0.28139	N	0.92986	P	0.35226	0.491	P	0.46320	0.512	T	0.06499	-1.0823	10	0.87932	D	0	-33.8606	13.0021	0.58681	0.0:0.0:0.8381:0.1619	.	283	Q8NGL3	OR5DE_HUMAN	F	283	ENSP00000334456:V283F	ENSP00000334456:V283F	V	+	1	0	OR5D14	55320454	0.578000	0.26717	0.992000	0.48379	0.990000	0.78478	1.352000	0.34033	2.363000	0.80096	0.643000	0.83706	GTC	.	.		0.428	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735	
OR5I1	10798	hgsc.bcm.edu	37	11	55703216	55703216	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr11:55703216A>G	ENST00000301532.3	-	1	660	c.661T>C	c.(661-663)Ttt>Ctt	p.F221L		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	221					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGAATGAAAAAGTAGGAGATG	0.428																																					p.F221L		Atlas-SNP	.											.	OR5I1	110	.	0			c.T661C						.						45.0	47.0	46.0					11																	55703216		2201	4295	6496	SO:0001583	missense	10798	exon1			TGAAAAAGTAGGA	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.661T>C	chr11.hg19:g.55703216A>G	ENSP00000301532:p.Phe221Leu	136.0	0.0		119.0	37.0	NM_006637	Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	hg19	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	A	0.959	-0.703875	0.03255	.	.	ENSG00000167825	ENST00000301532	T	0.00044	8.83	5.16	-0.149	0.13420	GPCR, rhodopsin-like superfamily (1);	0.627808	0.14174	N	0.336498	T	0.00039	0.0001	N	0.01529	-0.815	0.09310	N	1	B	0.16802	0.019	B	0.22152	0.038	T	0.32161	-0.9917	10	0.02654	T	1	.	3.2437	0.06789	0.338:0.4379:0.0826:0.1415	.	221	Q13606	OR5I1_HUMAN	L	221	ENSP00000301532:F221L	ENSP00000301532:F221L	F	-	1	0	OR5I1	55459792	0.000000	0.05858	0.069000	0.20011	0.805000	0.45488	-0.742000	0.04850	0.004000	0.14682	0.523000	0.50628	TTT	.	.		0.428	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637	
GANAB	23193	hgsc.bcm.edu	37	11	62394101	62394101	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr11:62394101C>A	ENST00000356638.3	-	21	2469	c.2453G>T	c.(2452-2454)cGg>cTg	p.R818L	GANAB_ENST00000534779.1_Missense_Mutation_p.R726L|GANAB_ENST00000346178.4_Missense_Mutation_p.R840L|GANAB_ENST00000540933.1_Missense_Mutation_p.R721L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	818					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	TTCTGAAGACCGCCGCACTCG	0.552																																					p.R840L	Melanoma(23;1005 1074 15747 18937)	Atlas-SNP	.											.	GANAB	110	.	0			c.G2519T						.						65.0	53.0	57.0					11																	62394101		2202	4299	6501	SO:0001583	missense	23193	exon22			GAAGACCGCCGCA	AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2453G>T	chr11.hg19:g.62394101C>A	ENSP00000349053:p.Arg818Leu	98.0	0.0		80.0	4.0	NM_198335	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	ENST00000356638.3	hg19	CCDS8026.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652835	0.88056	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.89617	-2.48;-2.45;-2.54;-2.49	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	D	0.94000	0.8078	M	0.94063	3.49	0.80722	D	1	P;P;B;B	0.50943	0.94;0.94;0.372;0.333	P;P;B;B	0.51806	0.68;0.68;0.169;0.318	D	0.95489	0.8567	10	0.87932	D	0	-12.6963	14.9217	0.70843	0.0:1.0:0.0:0.0	.	704;726;818;840	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	840;818;726;721	ENSP00000340466:R840L;ENSP00000349053:R818L;ENSP00000435306:R726L;ENSP00000442962:R721L	ENSP00000340466:R840L	R	-	2	0	GANAB	62150677	0.048000	0.20356	0.998000	0.56505	0.977000	0.68977	2.735000	0.47377	2.360000	0.80028	0.563000	0.77884	CGG	.	.		0.552	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395689.1	NM_198334	
ATM	472	hgsc.bcm.edu	37	11	108205694	108205694	+	Splice_Site	SNP	A	A	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr11:108205694A>T	ENST00000452508.2	+	56	8199		c.e56-1		C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Splice_Site			Q13315	ATM_HUMAN	ATM serine/threonine kinase						brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TACTTTTATTAGGTGGACCAC	0.294			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																											.		Atlas-SNP	.	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	.	ATM	1657	.	0			c.8011-2A>T	GRCh37	CS053445	ATM	S		.						67.0	67.0	67.0					11																	108205694		2201	4298	6499	SO:0001630	splice_region_variant	472	exon55	Familial Cancer Database	AT, Louis-Bar syndrome	TTTATTAGGTGGA	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8011-1A>T	chr11.hg19:g.108205694A>T		168.0	0.0		76.0	42.0	NM_000051	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Splice_Site	SNP	ENST00000452508.2	hg19	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.317094	0.81469	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9192	0.79547	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATM	107710904	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.624000	0.90961	2.164000	0.68074	0.533000	0.62120	.	.	.		0.294	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	Intron
CD163L1	283316	hgsc.bcm.edu	37	12	7548802	7548802	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr12:7548802G>T	ENST00000313599.3	-	8	1996	c.1939C>A	c.(1939-1941)Ctc>Atc	p.L647I	CD163L1_ENST00000416109.2_Missense_Mutation_p.L657I|CD163L1_ENST00000396630.1_Missense_Mutation_p.L647I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	647	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.L647F(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ACATCATCGAGCCAAATTTTT	0.483																																					p.L647I		Atlas-SNP	.											CD163L1,colon,carcinoma,0,1	CD163L1	238	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1939A						.						118.0	100.0	106.0					12																	7548802		2203	4300	6503	SO:0001583	missense	283316	exon8			CATCGAGCCAAAT	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.1939C>A	chr12.hg19:g.7548802G>T	ENSP00000315945:p.Leu647Ile	159.0	0.0		117.0	38.0	NM_174941	B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	hg19	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529455	0.44969	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630;ENST00000545926	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	2.23	1.28	0.21552	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.174679	0.25377	U	0.031119	T	0.59810	0.2221	M	0.81682	2.555	0.23820	N	0.996757	D;D	0.76494	0.998;0.999	D;D	0.72338	0.977;0.969	T	0.49194	-0.8965	10	0.72032	D	0.01	.	7.9604	0.30068	0.0:0.0:0.754:0.246	.	657;647	E7EVK4;Q9NR16	.;C163B_HUMAN	I	647;657;647;186	ENSP00000315945:L647I;ENSP00000393474:L657I;ENSP00000379871:L647I;ENSP00000439921:L186I	ENSP00000315945:L647I	L	-	1	0	CD163L1	7440069	0.992000	0.36948	0.639000	0.29394	0.124000	0.20399	0.319000	0.19522	0.446000	0.26666	0.557000	0.71058	CTC	.	.		0.483	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941	
BAZ2A	11176	hgsc.bcm.edu	37	12	57009334	57009334	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr12:57009334G>A	ENST00000551812.1	-	3	393	c.200C>T	c.(199-201)tCa>tTa	p.S67L	BAZ2A_ENST00000379441.3_Missense_Mutation_p.S67L|BAZ2A_ENST00000179765.5_Missense_Mutation_p.S65L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.S65L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	67					chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA methylation (GO:0006306)|heterochromatin assembly involved in chromatin silencing (GO:0070869)|histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|histone H4 deacetylation (GO:0070933)|histone H4-K20 methylation (GO:0034770)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|nucleolus (GO:0005730)|rDNA heterochromatin (GO:0033553)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|lysine-acetylated histone binding (GO:0070577)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAAAATCCCTGAAGTAGTAGT	0.478																																					p.S67L		Atlas-SNP	.											.	BAZ2A	263	.	0			c.C200T						.						64.0	65.0	65.0					12																	57009334		2064	4213	6277	SO:0001583	missense	11176	exon3			ATCCCTGAAGTAG	AB032254	CCDS44924.1, CCDS73483.1	12q13.3	2013-01-28				ENSG00000076108		"""Zinc fingers, PHD-type"""	962	protein-coding gene	gene with protein product	"""TTF-I interacting peptide 5"""	605682				10662543, 11532953	Standard	XM_005268596		Approved	KIAA0314, TIP5, WALp3	uc001slq.1	Q9UIF9	OTTHUMG00000170332	ENST00000551812.1:c.200C>T	chr12.hg19:g.57009334G>A	ENSP00000446880:p.Ser67Leu	53.0	0.0		59.0	29.0	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588382	0.86851	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549884;ENST00000546695;ENST00000549506	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	4.89	4.89	0.63831	.	0.270934	0.29908	N	0.010899	T	0.16385	0.0394	N	0.14661	0.345	0.39584	D	0.969489	P;D;P	0.56035	0.936;0.974;0.956	B;P;P	0.53861	0.445;0.736;0.549	T	0.04128	-1.0975	10	0.87932	D	0	.	15.4594	0.75342	0.0:0.0:1.0:0.0	.	67;65;67	B7Z8F7;F8VU39;Q9UIF9	.;.;BAZ2A_HUMAN	L	67;65;67;65;65;65	ENSP00000368754:S67L;ENSP00000179765:S65L;ENSP00000446880:S67L;ENSP00000447941:S65L;ENSP00000449496:S65L;ENSP00000447248:S65L	ENSP00000179765:S65L	S	-	2	0	BAZ2A	55295601	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.657000	0.67996	2.703000	0.92315	0.655000	0.94253	TCA	.	.		0.478	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
RDH16	8608	hgsc.bcm.edu	37	12	57348907	57348907	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr12:57348907T>C	ENST00000398138.3	-	2	1211	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	RDH16_ENST00000360752.4_Intron	NM_003708.3	NP_003699.3	O75452	RDH16_HUMAN	retinol dehydrogenase 16 (all-trans)	119					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	electron carrier activity (GO:0009055)|retinol dehydrogenase activity (GO:0004745)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)	16						TTGGGAGCCGTGGGCAAGGAG	0.552																																					p.T119A	GBM(179;741 2921 43105 45298)	Atlas-SNP	.											.	RDH16	33	.	0			c.A355G						.						80.0	77.0	78.0					12																	57348907		2078	4224	6302	SO:0001583	missense	8608	exon2			GAGCCGTGGGCAA		CCDS41797.1	12q13.3	2011-09-14	2006-05-09			ENSG00000139547		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	29674	protein-coding gene	gene with protein product	"""microsomal NAD+ dependent retinol dehydrogenase 4"", ""short chain dehydrogenase/reductase family 9C, member 8"""		"""retinol dehydrogenase 16 (all-trans and 13-cis)"""			9677409, 10329026, 19027726	Standard	NM_003708		Approved	RODH-4, SDR9C8	uc001smi.4	O75452		ENST00000398138.3:c.355A>G	chr12.hg19:g.57348907T>C	ENSP00000381206:p.Thr119Ala	116.0	0.0		101.0	40.0	NM_003708	Q9UNV2	Missense_Mutation	SNP	ENST00000398138.3	hg19	CCDS41797.1	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.191656	0.00302	.	.	ENSG00000139547	ENST00000398138	D	0.87334	-2.24	5.02	-10.0	0.00425	NAD(P)-binding domain (1);	2.782010	0.00973	N	0.003261	T	0.69133	0.3077	N	0.11673	0.155	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.58317	-0.7657	10	0.16896	T	0.51	.	4.4075	0.11416	0.127:0.2436:0.0528:0.5765	.	119	O75452	RDH16_HUMAN	A	119	ENSP00000381206:T119A	ENSP00000381206:T119A	T	-	1	0	RDH16	55635174	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.716000	0.00102	-5.503000	0.00013	-3.099000	0.00064	ACG	.	.		0.552	RDH16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410898.1	NM_003708	
TAOK3	51347	hgsc.bcm.edu	37	12	118588895	118588895	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr12:118588895T>A	ENST00000392533.3	-	21	3094	c.2604A>T	c.(2602-2604)caA>caT	p.Q868H	TAOK3_ENST00000537952.1_Missense_Mutation_p.Q408H|TAOK3_ENST00000536979.1_Missense_Mutation_p.Q63H|TAOK3_ENST00000419821.2_Missense_Mutation_p.Q868H|TAOK3_ENST00000543709.1_Intron	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	868					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCTCTCGCTCTTGCCTTTCCA	0.423																																					p.Q868H		Atlas-SNP	.											.	TAOK3	151	.	0			c.A2604T						.						164.0	165.0	165.0					12																	118588895		2203	4300	6503	SO:0001583	missense	51347	exon21			TCGCTCTTGCCTT	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2604A>T	chr12.hg19:g.118588895T>A	ENSP00000376317:p.Gln868His	95.0	0.0		76.0	33.0	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	hg19	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	T	10.74	1.434950	0.25813	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000536979;ENST00000537952	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.34	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	L	0.47016	1.485	0.53688	D	0.999971	P	0.39391	0.671	B	0.44163	0.443	T	0.16453	-1.0402	10	0.20519	T	0.43	.	7.442	0.27190	0.0:0.2414:0.0:0.7586	.	868	Q9H2K8	TAOK3_HUMAN	H	868;868;63;408	ENSP00000416374:Q868H;ENSP00000376317:Q868H;ENSP00000441932:Q63H;ENSP00000443834:Q408H	ENSP00000376317:Q868H	Q	-	3	2	TAOK3	117073278	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.485000	0.45250	1.036000	0.39998	0.533000	0.62120	CAA	.	.		0.423	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
TAOK3	51347	hgsc.bcm.edu	37	12	118588900	118588900	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr12:118588900T>A	ENST00000392533.3	-	21	3089	c.2599A>T	c.(2599-2601)Agg>Tgg	p.R867W	TAOK3_ENST00000537952.1_Missense_Mutation_p.R407W|TAOK3_ENST00000536979.1_Missense_Mutation_p.R62W|TAOK3_ENST00000419821.2_Missense_Mutation_p.R867W|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	867					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGCTCTTGCCTTTCCAATAGG	0.433																																					p.R867W		Atlas-SNP	.											.	TAOK3	151	.	0			c.A2599T						.						161.0	162.0	161.0					12																	118588900		2203	4300	6503	SO:0001583	missense	51347	exon21			CTTGCCTTTCCAA	AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2599A>T	chr12.hg19:g.118588900T>A	ENSP00000376317:p.Arg867Trp	95.0	0.0		76.0	34.0	NM_016281	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	ENST00000392533.3	hg19	CCDS9188.1	.	.	.	.	.	.	.	.	.	.	T	17.62	3.434824	0.62955	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000536979;ENST00000537952	T;T;T;T	0.61158	0.13;0.13;0.13;0.13	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.74935	0.3782	M	0.80183	2.485	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.78542	-0.2164	10	0.87932	D	0	.	11.377	0.49735	0.0:0.0:0.1513:0.8487	.	867	Q9H2K8	TAOK3_HUMAN	W	867;867;62;407	ENSP00000416374:R867W;ENSP00000376317:R867W;ENSP00000441932:R62W;ENSP00000443834:R407W	ENSP00000376317:R867W	R	-	1	2	TAOK3	117073283	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.339000	0.65953	2.212000	0.71576	0.533000	0.62120	AGG	.	.		0.433	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401456.2	NM_016281	
ZNF605	100289635	hgsc.bcm.edu	37	12	133502153	133502153	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr12:133502153T>C	ENST00000360187.4	-	5	2080	c.1732A>G	c.(1732-1734)Ata>Gta	p.I578V	ZNF605_ENST00000331711.7_5'Flank|ZNF605_ENST00000392321.3_Missense_Mutation_p.I609V	NM_183238.3	NP_899061.1	Q86T29	ZN605_HUMAN	zinc finger protein 605	578					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(16)|large_intestine(5)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.00227)|all_epithelial(31;0.142)		OV - Ovarian serous cystadenocarcinoma(86;9.24e-09)|Epithelial(86;2.11e-07)|all cancers(50;5.27e-06)		CTCTGATGTATAATCAGCTGT	0.403																																					p.I609V		Atlas-SNP	.											.	ZNF605	50	.	0			c.A1825G						.						129.0	120.0	123.0					12																	133502153		2203	4300	6503	SO:0001583	missense	100289635	exon5			GATGTATAATCAG	AL832623	CCDS31938.1, CCDS53850.1	12q24.33	2013-01-08	2009-09-11	2009-09-11		ENSG00000196458		"""Zinc fingers, C2H2-type"", ""-"""	28068	protein-coding gene	gene with protein product							Standard	NM_183238		Approved		uc001uli.3	Q86T29		ENST00000360187.4:c.1732A>G	chr12.hg19:g.133502153T>C	ENSP00000353314:p.Ile578Val	87.0	0.0		80.0	34.0	NM_001164715	B3KVG4|D3DXJ0|Q86T91	Missense_Mutation	SNP	ENST00000360187.4	hg19	CCDS31938.1	.	.	.	.	.	.	.	.	.	.	T	0.223	-1.027080	0.02045	.	.	ENSG00000196458	ENST00000360187;ENST00000392321	T;T	0.14766	3.12;2.48	3.72	1.26	0.21427	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.492139	0.15144	N	0.278103	T	0.04407	0.0121	N	0.02751	-0.505	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12837	0.008;0.005	T	0.44832	-0.9302	10	0.13853	T	0.58	.	5.6193	0.17448	0.0:0.0961:0.1725:0.7314	.	609;578	B3KVG4;Q86T29	.;ZN605_HUMAN	V	578;609	ENSP00000353314:I578V;ENSP00000376135:I609V	ENSP00000353314:I578V	I	-	1	0	ZNF605	132012226	0.000000	0.05858	0.415000	0.26534	0.992000	0.81027	-0.626000	0.05527	0.149000	0.19098	0.379000	0.24179	ATA	.	.		0.403	ZNF605-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397135.2	NM_183238	
PCDH8	5100	hgsc.bcm.edu	37	13	53422433	53422433	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr13:53422433C>T	ENST00000377942.3	-	1	342	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	PCDH8_ENST00000338862.4_Missense_Mutation_p.G47R	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	47	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|morphogenesis of embryonic epithelium (GO:0016331)|somitogenesis (GO:0001756)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		GCCAGGGTCCCGATGACCGTG	0.602																																					p.G47R	GBM(36;25 841 9273 49207)	Atlas-SNP	.											.	PCDH8	95	.	0			c.G139A						.						96.0	91.0	93.0					13																	53422433		2203	4300	6503	SO:0001583	missense	5100	exon1			GGGTCCCGATGAC	AF061573	CCDS9438.1, CCDS9439.1	13q21.1	2010-02-22			ENSG00000136099	ENSG00000136099		"""Cadherins / Protocadherins : Non-clustered"""	8660	protein-coding gene	gene with protein product		603580				9787079, 9315676	Standard	NM_002590		Approved	PAPC, ARCADLIN	uc001vhi.3	O95206	OTTHUMG00000016979	ENST00000377942.3:c.139G>A	chr13.hg19:g.53422433C>T	ENSP00000367177:p.Gly47Arg	54.0	0.0		51.0	26.0	NM_032949	B4DMV7|Q5TAN1|Q5TAN2|Q8IYE9|Q96SF1	Missense_Mutation	SNP	ENST00000377942.3	hg19	CCDS9438.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.650202	0.87958	.	.	ENSG00000136099	ENST00000377942;ENST00000338862;ENST00000418407;ENST00000448969	T;T	0.45668	0.89;0.89	5.51	5.51	0.81932	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.000000	0.44688	D	0.000421	T	0.77980	0.4212	H	0.97186	3.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.85611	0.1258	10	0.87932	D	0	.	19.4153	0.94694	0.0:1.0:0.0:0.0	.	47;47	O95206-2;O95206	.;PCDH8_HUMAN	R	47	ENSP00000367177:G47R;ENSP00000341350:G47R	ENSP00000341350:G47R	G	-	1	0	PCDH8	52320434	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.783000	0.85696	2.595000	0.87683	0.561000	0.74099	GGG	.	.		0.602	PCDH8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045108.2	NM_002590	
REC8	9985	hgsc.bcm.edu	37	14	24646411	24646411	+	Missense_Mutation	SNP	A	A	C	rs370800103		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr14:24646411A>C	ENST00000311457.3	+	9	1285	c.686A>C	c.(685-687)gAa>gCa	p.E229A	REC8_ENST00000559919.1_Missense_Mutation_p.E229A			O95072	REC8_HUMAN	REC8 meiotic recombination protein	229	Glu-rich.				double-strand break repair via homologous recombination (GO:0000724)|fertilization (GO:0009566)|linear element assembly (GO:0030999)|male meiosis I (GO:0007141)|meiotic nuclear division (GO:0007126)|oocyte maturation (GO:0001556)|reciprocal meiotic recombination (GO:0007131)|seminiferous tubule development (GO:0072520)|sister chromatid cohesion (GO:0007062)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)	condensed nuclear chromosome kinetochore (GO:0000778)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear meiotic cohesin complex (GO:0034991)|nucleus (GO:0005634)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCAGAGGAAGAAGCTATCTTG	0.587																																					p.E229A	NSCLC(139;1764 2537 12868 49041)	Atlas-SNP	.											.,1	REC8	47	.	0			c.A686C						.						66.0	71.0	69.0					14																	24646411		1927	4122	6049	SO:0001583	missense	9985	exon8			AGGAAGAAGCTAT	AF006264	CCDS41932.1	14q11.2-q12	2013-08-06	2013-08-06	2007-04-03		ENSG00000100918			16879	protein-coding gene	gene with protein product		608193	"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		10207075, 15935783, 12759374	Standard	NM_005132		Approved	Rec8p, kleisin-alpha	uc001wms.3	O95072		ENST00000311457.3:c.686A>C	chr14.hg19:g.24646411A>C	ENSP00000308699:p.Glu229Ala	64.0	0.0		86.0	8.0	NM_001048205	A8K576|D3DS62|Q658V5|Q6IA92|Q8WUV8|Q9BTF2|Q9NVQ9	Missense_Mutation	SNP	ENST00000311457.3	hg19	CCDS41932.1	.	.	.	.	.	.	.	.	.	.	A	14.38	2.519143	0.44866	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.26810	1.71	5.31	4.17	0.49024	.	0.367956	0.27715	N	0.018154	T	0.15565	0.0375	N	0.24115	0.695	0.22001	N	0.999423	B;B	0.13594	0.008;0.005	B;B	0.15052	0.012;0.005	T	0.18209	-1.0344	10	0.29301	T	0.29	-4.7435	7.7943	0.29138	0.9077:0.0:0.0923:0.0	.	230;230	O95072-2;O95072	.;REC8_HUMAN	A	229	ENSP00000308699:E229A	ENSP00000308699:E229A	E	+	2	0	REC8	23716251	0.948000	0.32251	0.794000	0.32065	0.471000	0.32888	2.087000	0.41653	1.040000	0.40099	0.459000	0.35465	GAA	.	.		0.587	REC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415889.3	NM_005132	
AKAP6	9472	hgsc.bcm.edu	37	14	33290708	33290708	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr14:33290708G>T	ENST00000280979.4	+	13	3859	c.3689G>T	c.(3688-3690)aGt>aTt	p.S1230I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1230					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGTTAATTAGTTTGAATGAG	0.423																																					p.S1230I	Melanoma(49;821 1200 7288 13647 42351)	Atlas-SNP	.											.	AKAP6	308	.	0			c.G3689T						.						127.0	117.0	120.0					14																	33290708		2203	4300	6503	SO:0001583	missense	9472	exon13			TAATTAGTTTGAA	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.3689G>T	chr14.hg19:g.33290708G>T	ENSP00000280979:p.Ser1230Ile	164.0	0.0		129.0	34.0	NM_004274	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	hg19	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578505	0.46006	.	.	ENSG00000151320	ENST00000280979	T	0.06608	3.28	6.03	5.14	0.70334	.	0.101862	0.64402	D	0.000002	T	0.23649	0.0572	M	0.65975	2.015	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.00670	-1.1617	10	0.87932	D	0	-12.48	15.2809	0.73784	0.0667:0.0:0.9333:0.0	.	1230	Q13023	AKAP6_HUMAN	I	1230	ENSP00000280979:S1230I	ENSP00000280979:S1230I	S	+	2	0	AKAP6	32360459	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	7.159000	0.77483	1.567000	0.49668	-0.136000	0.14681	AGT	.	.		0.423	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274	
FANCM	57697	hgsc.bcm.edu	37	14	45658071	45658071	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr14:45658071G>A	ENST00000267430.5	+	20	4931	c.4846G>A	c.(4846-4848)Ggc>Agc	p.G1616S	FANCM_ENST00000542564.2_Missense_Mutation_p.G1590S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1616					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTCTTGCAAAGGCCAATCAAG	0.308								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.G1616S		Atlas-SNP	.											.	FANCM	225	.	0			c.G4846A						.						86.0	88.0	87.0					14																	45658071		2203	4298	6501	SO:0001583	missense	57697	exon20	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	TGCAAAGGCCAAT	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.4846G>A	chr14.hg19:g.45658071G>A	ENSP00000267430:p.Gly1616Ser	202.0	0.0		174.0	59.0	NM_020937	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	hg19	CCDS32070.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.212|0.212	-1.035407|-1.035407	0.02029|0.02029	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.75938|.	-0.98;-0.98;-0.98|.	5.56|5.56	2.91|2.91	0.33838|0.33838	.|.	3.357770|.	0.00496|.	N|.	0.000143|.	T|T	0.04543|0.04543	0.0124|0.0124	N|N	0.00116|0.00116	-2.08|-2.08	0.23010|0.23010	N|N	0.998439|0.998439	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.37244|0.37244	-0.9714|-0.9714	10|5	0.08179|.	T|.	0.78|.	.|.	5.6929|5.6929	0.17839|0.17839	0.6844:0.0:0.078:0.2376|0.6844:0.0:0.078:0.2376	.|.	1590;1616|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	S|K	1616;1590;1132|548	ENSP00000267430:G1616S;ENSP00000442493:G1590S;ENSP00000452033:G1132S|.	ENSP00000267430:G1616S|.	G|R	+|+	1|2	0|0	FANCM|FANCM	44727821|44727821	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.401000|0.401000	0.30781|0.30781	2.753000|2.753000	0.47524|0.47524	1.036000|1.036000	0.39998|0.39998	-0.300000|-0.300000	0.09419|0.09419	GGC|AGG	.	.		0.308	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128	
VSX2	338917	hgsc.bcm.edu	37	14	74727375	74727375	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr14:74727375T>C	ENST00000261980.2	+	5	929	c.839T>C	c.(838-840)cTc>cCc	p.L280P		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	280					cell fate commitment (GO:0045165)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		CTGCCCAAGCTCGACAAGATG	0.627																																					p.L280P		Atlas-SNP	.											.	VSX2	32	.	0			c.T839C						.						15.0	17.0	16.0					14																	74727375		2193	4295	6488	SO:0001583	missense	338917	exon5			CCAAGCTCGACAA	AC005519	CCDS9827.1	14q24.3	2011-06-20	2007-08-21	2007-08-21		ENSG00000119614		"""Homeoboxes / PRD class"""	1975	protein-coding gene	gene with protein product		142993	"""C elegans ceh-10 homeo domain-containing homolog"", ""ceh-10 homeo domain containing homolog (C. elegans)"", ""ceh-10 homeodomain containing homolog (C. elegans)"""	HOX10, CHX10		1973146	Standard	NM_182894		Approved	RET1	uc001xpq.3	P58304		ENST00000261980.2:c.839T>C	chr14.hg19:g.74727375T>C	ENSP00000261980:p.Leu280Pro	414.0	1.0		394.0	142.0	NM_182894	A1A4X6	Missense_Mutation	SNP	ENST00000261980.2	hg19	CCDS9827.1	.	.	.	.	.	.	.	.	.	.	T	7.413	0.635203	0.14322	.	.	ENSG00000119614	ENST00000261980	D	0.91068	-2.78	4.83	4.83	0.62350	.	0.419222	0.26546	N	0.023778	T	0.81202	0.4773	N	0.16478	0.41	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.75379	-0.3338	10	0.30078	T	0.28	.	9.1372	0.36881	0.0:0.0817:0.0:0.9183	.	280	P58304	VSX2_HUMAN	P	280	ENSP00000261980:L280P	ENSP00000261980:L280P	L	+	2	0	VSX2	73797128	0.324000	0.24652	0.896000	0.35187	0.325000	0.28411	0.572000	0.23684	2.017000	0.59298	0.533000	0.62120	CTC	.	.		0.627	VSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412323.1	NM_182894	
ESRRB	2103	hgsc.bcm.edu	37	14	76948999	76948999	+	Silent	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr14:76948999T>C	ENST00000509242.1	+	6	782	c.684T>C	c.(682-684)ccT>ccC	p.P228P	ESRRB_ENST00000380887.2_Silent_p.P228P|ESRRB_ENST00000556177.1_Silent_p.P228P|ESRRB_ENST00000261532.7_Silent_p.P228P	NM_004452.3	NP_004443.3	O95718	ERR2_HUMAN	estrogen-related receptor beta	228					gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|trophectodermal cell proliferation (GO:0001834)|trophectodermal cellular morphogenesis (GO:0001831)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		ATGCCATGCCTCCCCCTGGTA	0.552																																					p.P228P		Atlas-SNP	.											.	ESRRB	114	.	0			c.T684C						.						106.0	84.0	92.0					14																	76948999		2203	4300	6503	SO:0001819	synonymous_variant	2103	exon7			CATGCCTCCCCCT	X51417	CCDS9850.1, CCDS9850.2	14q24.3	2013-01-16				ENSG00000119715		"""Nuclear hormone receptors"""	3473	protein-coding gene	gene with protein product		602167	"""deafness, autosomal recessive 35"""	ESRL2, DFNB35		3267207, 9344655, 18179891	Standard	NM_004452		Approved	ERR2, ERRbeta, NR3B2, ERRb	uc001xsr.3	O95718		ENST00000509242.1:c.684T>C	chr14.hg19:g.76948999T>C		134.0	0.0		109.0	5.0	NM_004452	A2VDJ2|B6ZGU4|Q5F0P7|Q5F0P8|Q9HCB4	Silent	SNP	ENST00000509242.1	hg19	CCDS9850.2																																																																																			.	.		0.552	ESRRB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360663.1		
SYNE3	161176	hgsc.bcm.edu	37	14	95932451	95932451	+	Silent	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr14:95932451C>T	ENST00000334258.5	-	3	458	c.444G>A	c.(442-444)gaG>gaA	p.E148E	SYNE3_ENST00000557275.1_Silent_p.E148E|SYNE3_ENST00000553340.1_Silent_p.E148E	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	148					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GCCACTGCTTCTCCTTCAGGC	0.632																																					p.E148E		Atlas-SNP	.											.	SYNE3	130	.	0			c.G444A						.						61.0	60.0	60.0					14																	95932451		2203	4300	6503	SO:0001819	synonymous_variant	161176	exon3			CTGCTTCTCCTTC	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.444G>A	chr14.hg19:g.95932451C>T		69.0	0.0		52.0	19.0	NM_152592	A6H8H3|Q86SX5|Q8N7G8	Silent	SNP	ENST00000334258.5	hg19	CCDS9935.1																																																																																			.	.		0.632	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	NM_152592	
EIF2AK4	440275	hgsc.bcm.edu	37	15	40313196	40313196	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr15:40313196A>G	ENST00000263791.5	+	31	4313	c.4270A>G	c.(4270-4272)Atc>Gtc	p.I1424V	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.I1396V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1424	Histidyl-tRNA synthetase-like.				cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GACAGCAGGCATCACAGCAGA	0.473																																					p.I1424V		Atlas-SNP	.											.	EIF2AK4	107	.	0			c.A4270G						.						112.0	105.0	107.0					15																	40313196		2010	4175	6185	SO:0001583	missense	440275	exon31			GCAGGCATCACAG	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.4270A>G	chr15.hg19:g.40313196A>G	ENSP00000263791:p.Ile1424Val	182.0	0.0		165.0	68.0	NM_001013703	C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Missense_Mutation	SNP	ENST00000263791.5	hg19	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898402	0.33535	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	T;T	0.58940	0.3;0.3	5.62	4.48	0.54585	Anticodon-binding (1);Serine/threonine-protein kinase GCN2, anticodon binding domain (1);	0.132843	0.56097	D	0.000034	T	0.43344	0.1243	L	0.27053	0.805	0.47698	D	0.999495	B;B	0.17038	0.016;0.02	B;B	0.22601	0.024;0.04	T	0.34725	-0.9817	10	0.62326	D	0.03	-17.6747	8.2194	0.31532	0.7953:0.1355:0.0692:0.0	.	1396;1424	Q9P2K8-2;Q9P2K8	.;E2AK4_HUMAN	V	1424;1396	ENSP00000263791:I1424V;ENSP00000372174:I1396V	ENSP00000263791:I1424V	I	+	1	0	EIF2AK4	38100488	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.491000	0.53252	1.043000	0.40175	0.533000	0.62120	ATC	.	.		0.473	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
RFX7	64864	hgsc.bcm.edu	37	15	56385746	56385746	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr15:56385746T>C	ENST00000559447.2	-	9	4160	c.3889A>G	c.(3889-3891)Atc>Gtc	p.I1297V	RFX7_ENST00000423270.1_Missense_Mutation_p.I1394V|RFX7_ENST00000317318.6_Intron|RFX7_ENST00000422057.1_Intron			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1297					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AAATCATTGATGCTGCCTGAG	0.448																																					p.I1394V		Atlas-SNP	.											.	RFX7	170	.	0			c.A4180G						.						80.0	75.0	76.0					15																	56385746		1964	4136	6100	SO:0001583	missense	64864	exon9			CATTGATGCTGCC			15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3889A>G	chr15.hg19:g.56385746T>C	ENSP00000453281:p.Ile1297Val	97.0	0.0		70.0	25.0	NM_022841	Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	ENST00000559447.2	hg19		.	.	.	.	.	.	.	.	.	.	T	16.46	3.130091	0.56721	.	.	ENSG00000181827	ENST00000423270	T	0.59364	0.27	5.77	5.77	0.91146	.	0.000000	0.49916	U	0.000134	T	0.67097	0.2857	L	0.32530	0.975	0.80722	D	1	D	0.64830	0.994	D	0.72625	0.978	T	0.70249	-0.4924	10	0.87932	D	0	-10.959	15.5635	0.76269	0.0:0.0:0.0:1.0	.	1297	Q2KHR2	RFX7_HUMAN	V	1394	ENSP00000397644:I1394V	ENSP00000397644:I1394V	I	-	1	0	RFX7	54173038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.594000	0.82698	2.326000	0.78906	0.533000	0.62120	ATC	.	.		0.448	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3	NM_022841	
PRSS36	146547	hgsc.bcm.edu	37	16	31153852	31153852	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr16:31153852G>T	ENST00000268281.4	-	10	1529	c.1471C>A	c.(1471-1473)Cac>Aac	p.H491N	PRSS36_ENST00000418068.2_Missense_Mutation_p.H491N|PRSS36_ENST00000569305.1_Missense_Mutation_p.H491N	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36	491	Peptidase S1 2. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	serine-type endopeptidase activity (GO:0004252)			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CAGAGCGCGTGCGGCGGGTCT	0.746																																					p.H491N		Atlas-SNP	.											.	PRSS36	50	.	0			c.C1471A						.						1.0	2.0	2.0					16																	31153852		1137	2498	3635	SO:0001583	missense	146547	exon10			GCGCGTGCGGCGG	AK075142	CCDS32436.1, CCDS58452.1, CCDS58453.1	16p11.2	2014-09-04			ENSG00000178226			"""Serine peptidases / Serine peptidases"""	26906	protein-coding gene	gene with protein product	"""polyserase 2"""	610560				15536082	Standard	NM_173502		Approved	FLJ90661	uc002ebd.4	Q5K4E3	OTTHUMG00000176751	ENST00000268281.4:c.1471C>A	chr16.hg19:g.31153852G>T	ENSP00000268281:p.His491Asn	30.0	0.0		26.0	17.0	NM_001258291	A8K2P5|B4DW80|B7ZMK8|E7EX56|Q8NBY4	Missense_Mutation	SNP	ENST00000268281.4	hg19	CCDS32436.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633780	0.47049	.	.	ENSG00000178226	ENST00000268281;ENST00000418068	T;T	0.26067	1.76;1.76	5.42	2.17	0.27698	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	.	.	.	.	T	0.13286	0.0322	N	0.10782	0.045	0.09310	N	1	B;B;B	0.25007	0.025;0.057;0.116	B;B;B	0.22152	0.026;0.01;0.038	T	0.23583	-1.0184	9	0.23302	T	0.38	.	10.9399	0.47268	0.0:0.2535:0.6168:0.1296	.	491;491;491	E7EX56;B7ZMK8;Q5K4E3	.;.;POLS2_HUMAN	N	491	ENSP00000268281:H491N;ENSP00000407160:H491N	ENSP00000268281:H491N	H	-	1	0	PRSS36	31061353	0.025000	0.19082	0.691000	0.30163	0.920000	0.55202	1.342000	0.33919	1.261000	0.44149	-0.282000	0.10007	CAC	.	.		0.746	PRSS36-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433542.1	NM_173502	
CRK	1398	hgsc.bcm.edu	37	17	1359301	1359301	+	Silent	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:1359301C>T	ENST00000300574.2	-	1	251	c.111G>A	c.(109-111)gtG>gtA	p.V37V	CRK_ENST00000574295.1_Silent_p.V37V|CRK_ENST00000398970.5_Silent_p.V37V|CRK_ENST00000572145.1_Intron	NM_016823.3	NP_058431.2	P46108	CRK_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog	37	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|ephrin receptor signaling pathway (GO:0048013)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of signal transduction (GO:0009967)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Rho GTPase activity (GO:0032319)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|SH2 domain binding (GO:0042169)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)	9				UCEC - Uterine corpus endometrioid carcinoma (25;0.083)		TCGAGTCCCGCACCAGGAACA	0.682																																					p.V37V		Atlas-SNP	.											.	CRK	14	.	0			c.G111A						.						30.0	33.0	32.0					17																	1359301		2201	4298	6499	SO:0001819	synonymous_variant	1398	exon1			GTCCCGCACCAGG	D10656	CCDS11002.1, CCDS45561.1	17p13	2013-07-09	2013-07-09		ENSG00000167193	ENSG00000167193		"""SH2 domain containing"""	2362	protein-coding gene	gene with protein product		164762				1690891	Standard	NM_005206		Approved		uc002fsl.3	P46108	OTTHUMG00000090317	ENST00000300574.2:c.111G>A	chr17.hg19:g.1359301C>T		82.0	0.0		51.0	19.0	NM_016823	A8MWE8|B0LPE8|D3DTH6|Q96GA9|Q96HJ0	Silent	SNP	ENST00000300574.2	hg19	CCDS11002.1																																																																																			.	.		0.682	CRK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206679.1	NM_016823	
WDR81	124997	hgsc.bcm.edu	37	17	1630159	1630159	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:1630159C>T	ENST00000409644.1	+	1	1906	c.1906C>T	c.(1906-1908)Cca>Tca	p.P636S	WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	636					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGTGGGCCGGCCAGTTTTAGA	0.597																																					p.P636S		Atlas-SNP	.											.	WDR81	180	.	0			c.C1906T						.						9.0	10.0	10.0					17																	1630159		690	1584	2274	SO:0001583	missense	124997	exon1			GGCCGGCCAGTTT	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.1906C>T	chr17.hg19:g.1630159C>T	ENSP00000386609:p.Pro636Ser	72.0	0.0		72.0	36.0	NM_001163809	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	hg19	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.968417	0.00457	.	.	ENSG00000167716	ENST00000409644	T	0.48201	0.82	5.59	-0.761	0.11038	.	.	.	.	.	T	0.28134	0.0694	.	.	.	0.23956	N	0.996352	.	.	.	.	.	.	T	0.24870	-1.0148	6	0.21014	T	0.42	.	4.2563	0.10719	0.2182:0.5359:0.1067:0.1392	.	.	.	.	S	636	ENSP00000386609:P636S	ENSP00000386609:P636S	P	+	1	0	WDR81	1576909	0.019000	0.18553	0.050000	0.19076	0.040000	0.13550	0.004000	0.13106	0.028000	0.15324	0.462000	0.41574	CCA	.	.		0.597	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348	
NLRP1	22861	hgsc.bcm.edu	37	17	5463296	5463296	+	Silent	SNP	C	C	T	rs369131551		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:5463296C>T	ENST00000572272.1	-	4	719	c.720G>A	c.(718-720)acG>acA	p.T240T	NLRP1_ENST00000577119.1_Silent_p.T240T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Silent_p.T240T|NLRP1_ENST00000269280.4_Silent_p.T240T|NLRP1_ENST00000262467.5_Silent_p.T240T|NLRP1_ENST00000345221.3_Silent_p.T240T			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	240					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTGTGGGGGCGTTCCTACCA	0.547																																					p.T240T		Atlas-SNP	.											.	NLRP1	358	.	0			c.G720A						.						58.0	64.0	62.0					17																	5463296		2203	4300	6503	SO:0001819	synonymous_variant	22861	exon4			TGGGGGCGTTCCT	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.720G>A	chr17.hg19:g.5463296C>T		95.0	0.0		82.0	30.0	NM_033007	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Silent	SNP	ENST00000572272.1	hg19	CCDS42246.1																																																																																			.	.		0.547	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004	
PIK3R5	23533	hgsc.bcm.edu	37	17	8791704	8791704	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:8791704A>G	ENST00000447110.1	-	10	1524	c.1400T>C	c.(1399-1401)gTa>gCa	p.V467A	PIK3R5_ENST00000581552.1_Missense_Mutation_p.V467A|PIK3R5_ENST00000584803.1_Missense_Mutation_p.V467A	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	467					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						AGGGGGTGATACTGGTTCGTC	0.716																																					p.V467A	NSCLC(18;589 615 7696 20311 50332)	Atlas-SNP	.											.	PIK3R5	79	.	0			c.T1400C						.						8.0	11.0	10.0					17																	8791704		2171	4263	6434	SO:0001583	missense	23533	exon10			GGTGATACTGGTT	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1400T>C	chr17.hg19:g.8791704A>G	ENSP00000392812:p.Val467Ala	70.0	0.0		58.0	4.0	NM_001142633	B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	hg19	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	A	3.544	-0.093128	0.07053	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76316	-1.01	4.86	-8.76	0.00830	.	1.545490	0.03334	N	0.193745	T	0.48484	0.1502	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48896	-0.8994	10	0.07030	T	0.85	6.3151	5.3446	0.16002	0.1311:0.503:0.1793:0.1866	.	467	Q8WYR1	PI3R5_HUMAN	A	467	ENSP00000392812:V467A	ENSP00000269300:V467A	V	-	2	0	PIK3R5	8732429	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.734000	0.01848	-1.505000	0.01807	-1.586000	0.00850	GTA	.	.		0.716	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308	
KRT34	3885	hgsc.bcm.edu	37	17	39538463	39538463	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:39538463G>C	ENST00000394001.1	-	1	192	c.162C>G	c.(160-162)tgC>tgG	p.C54W		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	54	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGCTGGTGCGGCAGCCCAGGC	0.622																																					p.C54W		Atlas-SNP	.											.	KRT34	71	.	0			c.C162G						.						51.0	49.0	49.0					17																	39538463		2203	4300	6503	SO:0001583	missense	3885	exon1			GGTGCGGCAGCCC	Y16790	CCDS11390.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131737	ENSG00000131737		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6452	protein-coding gene	gene with protein product	"""hard keratin type I 4"""	602763	"""keratin, hair, acidic, 4"""	KRTHA4		2431943, 9756910, 16831889	Standard	NM_021013		Approved	Ha-4	uc002hwm.3	O76011	OTTHUMG00000133436	ENST00000394001.1:c.162C>G	chr17.hg19:g.39538463G>C	ENSP00000377570:p.Cys54Trp	165.0	0.0		129.0	38.0	NM_021013	Q8IUT8|Q8N4W2	Missense_Mutation	SNP	ENST00000394001.1	hg19	CCDS11390.1	.	.	.	.	.	.	.	.	.	.	g	15.79	2.937343	0.52972	.	.	ENSG00000131737	ENST00000394001;ENST00000251648	.	.	.	5.87	2.85	0.33270	.	0.262685	0.34291	N	0.004085	T	0.49525	0.1562	L	0.43923	1.385	0.48632	D	0.999684	D	0.55800	0.973	P	0.51866	0.682	T	0.37979	-0.9682	9	0.38643	T	0.18	.	6.9858	0.24727	0.2053:0.1281:0.6666:0.0	.	54	O76011	KRT34_HUMAN	W	12;54	.	ENSP00000251648:C54W	C	-	3	2	KRT34	36791989	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	3.466000	0.53071	0.406000	0.25560	0.563000	0.77884	TGC	.	.		0.622	KRT34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257304.3	NM_021013	
ITGA2B	3674	hgsc.bcm.edu	37	17	42463044	42463044	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:42463044G>T	ENST00000262407.5	-	4	480	c.449C>A	c.(448-450)aCt>aAt	p.T150N	ITGA2B_ENST00000377068.3_5'Flank|ITGA2B_ENST00000353281.4_Missense_Mutation_p.T150N	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	150					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AGCCTCCTCAGTCTTTTCTAG	0.667																																					p.T150N		Atlas-SNP	.											.	ITGA2B	88	.	0			c.C449A						.						29.0	37.0	35.0					17																	42463044		2199	4299	6498	SO:0001583	missense	3674	exon4			TCCTCAGTCTTTT		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.449C>A	chr17.hg19:g.42463044G>T	ENSP00000262407:p.Thr150Asn	64.0	0.0		36.0	14.0	NM_000419	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	ENST00000262407.5	hg19	CCDS32665.1	.	.	.	.	.	.	.	.	.	.	G	8.364	0.833800	0.16820	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	D;D	0.85258	-1.96;-1.96	5.55	-2.88	0.05682	.	1.519990	0.04838	N	0.440059	T	0.70962	0.3284	L	0.28458	0.855	0.09310	N	0.999993	B	0.02656	0.0	B	0.01281	0.0	T	0.51212	-0.8734	10	0.15952	T	0.53	.	1.4616	0.02397	0.215:0.1126:0.213:0.4594	.	150	P08514	ITA2B_HUMAN	N	150	ENSP00000262407:T150N;ENSP00000340536:T150N	ENSP00000262407:T150N	T	-	2	0	ITGA2B	39818570	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.376000	0.07465	-0.502000	0.06596	-0.254000	0.11334	ACT	.	.		0.667	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1		
PSMD12	5718	hgsc.bcm.edu	37	17	65343236	65343236	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:65343236T>A	ENST00000356126.3	-	7	898	c.791A>T	c.(790-792)cAg>cTg	p.Q264L	PSMD12_ENST00000357146.4_Missense_Mutation_p.Q244L	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	264	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TCTTACCTGCTGCCATTTTTC	0.338																																					p.Q264L		Atlas-SNP	.											.	PSMD12	32	.	0			c.A791T						.						110.0	105.0	107.0					17																	65343236		2202	4297	6499	SO:0001583	missense	5718	exon7			ACCTGCTGCCATT	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.791A>T	chr17.hg19:g.65343236T>A	ENSP00000348442:p.Gln264Leu	74.0	0.0		46.0	12.0	NM_002816	A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	hg19	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.307591	0.60305	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.05081	3.5;3.5	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.06872	0.0175	L	0.33339	1.005	0.80722	D	1	B;B	0.09022	0.002;0.002	B;B	0.13407	0.005;0.009	T	0.38415	-0.9662	10	0.18276	T	0.48	-19.0341	16.4484	0.83959	0.0:0.0:0.0:1.0	.	244;264	A6NP15;O00232	.;PSD12_HUMAN	L	264;244	ENSP00000348442:Q264L;ENSP00000349667:Q244L	ENSP00000348442:Q264L	Q	-	2	0	PSMD12	62773698	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.680000	0.84062	2.285000	0.76669	0.533000	0.62120	CAG	.	.		0.338	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1	NM_002816, NM_174871	
LGALS3BP	3959	hgsc.bcm.edu	37	17	76968132	76968132	+	Silent	SNP	T	T	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr17:76968132T>G	ENST00000262776.3	-	6	1592	c.1284A>C	c.(1282-1284)tcA>tcC	p.S428S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	428					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGACCAGTTGTGACTTCCGTG	0.532											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.S428S	GBM(89;1105 1755 18102 21513)	Atlas-SNP	.											.	LGALS3BP	47	.	0			c.A1284C						.						51.0	55.0	54.0					17																	76968132		2203	4300	6503	SO:0001819	synonymous_variant	3959	exon6			CAGTTGTGACTTC	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1284A>C	chr17.hg19:g.76968132T>G		68.0	0.0	1172	47.0	19.0	NM_005567	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	hg19	CCDS11759.1																																																																																			.	.		0.532	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567	
SMCHD1	23347	hgsc.bcm.edu	37	18	2697978	2697978	+	Silent	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr18:2697978C>T	ENST00000320876.6	+	10	1619	c.1281C>T	c.(1279-1281)atC>atT	p.I427I	SMCHD1_ENST00000261598.8_Silent_p.I427I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	427					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.I427M(2)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGGGATTATCCGTTATCATC	0.348																																					p.I427I		Atlas-SNP	.											AP001011.3_ENST00000320876,caecum,carcinoma,0,2	SMCHD1	88	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1281T						.						167.0	152.0	157.0					18																	2697978		1904	4133	6037	SO:0001819	synonymous_variant	23347	exon10			GATTATCCGTTAT	AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.1281C>T	chr18.hg19:g.2697978C>T		88.0	0.0		72.0	29.0	NM_015295	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Silent	SNP	ENST00000320876.6	hg19	CCDS45822.1																																																																																			.	.		0.348	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441082.2		
TCF4	6925	hgsc.bcm.edu	37	18	52927189	52927189	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr18:52927189A>G	ENST00000356073.4	-	13	1671	c.1060T>C	c.(1060-1062)Tct>Cct	p.S354P	TCF4_ENST00000565018.2_Missense_Mutation_p.S354P|TCF4_ENST00000561831.3_Missense_Mutation_p.S194P|TCF4_ENST00000354452.3_Missense_Mutation_p.S354P|TCF4_ENST00000568740.1_Missense_Mutation_p.S329P|TCF4_ENST00000537856.3_Missense_Mutation_p.S224P|TCF4_ENST00000564999.1_Missense_Mutation_p.S354P|TCF4_ENST00000398339.1_Missense_Mutation_p.S456P|TCF4_ENST00000568673.1_Missense_Mutation_p.S330P|TCF4_ENST00000540999.1_Missense_Mutation_p.S330P|TCF4_ENST00000544241.2_Missense_Mutation_p.S283P|TCF4_ENST00000567880.1_Missense_Mutation_p.S294P|TCF4_ENST00000570177.2_Missense_Mutation_p.S224P|TCF4_ENST00000570287.2_Missense_Mutation_p.S194P|TCF4_ENST00000564228.1_Missense_Mutation_p.S283P|TCF4_ENST00000563760.1_Intron|TCF4_ENST00000457482.3_Missense_Mutation_p.S194P|TCF4_ENST00000564403.2_Missense_Mutation_p.S360P|TCF4_ENST00000537578.1_Missense_Mutation_p.S330P|TCF4_ENST00000566286.1_Missense_Mutation_p.S352P|TCF4_ENST00000566279.1_Missense_Mutation_p.S294P|TCF4_ENST00000543082.1_Missense_Mutation_p.S312P|TCF4_ENST00000561992.1_Missense_Mutation_p.S224P	NM_003199.2	NP_003190.1	P15884	ITF2_HUMAN	transcription factor 4	354					DNA-templated transcription, initiation (GO:0006352)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein-DNA complex assembly (GO:0065004)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity (GO:0001011)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TFIIB-class binding transcription factor activity (GO:0001087)|TFIIB-class transcription factor binding (GO:0001093)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCTGAGAGAGATGGAGGAGAG	0.373																																					p.S456P		Atlas-SNP	.											.	TCF4	178	.	0			c.T1366C						.						140.0	147.0	145.0					18																	52927189		2203	4300	6503	SO:0001583	missense	6925	exon14			AGAGAGATGGAGG	M74719	CCDS11960.1, CCDS42438.1, CCDS58623.1, CCDS58624.1, CCDS58625.1, CCDS58626.1, CCDS58627.1, CCDS58628.1, CCDS58629.1, CCDS58630.1, CCDS58631.1, CCDS59321.1	18q21.1	2013-05-21			ENSG00000196628	ENSG00000196628		"""Basic helix-loop-helix proteins"""	11634	protein-coding gene	gene with protein product		602272				9302263, 2308860	Standard	NM_001083962		Approved	SEF2-1B, ITF2, bHLHb19, E2-2	uc002lga.3	P15884	OTTHUMG00000132713	ENST00000356073.4:c.1060T>C	chr18.hg19:g.52927189A>G	ENSP00000348374:p.Ser354Pro	142.0	0.0		110.0	39.0	NM_001243226	B3KT62|B3KUC0|B4DT37|B4DUG3|B7Z5M6|B7Z6Y1|G0LNT9|G0LNU0|G0LNU1|G0LNU2|G0LNU4|G0LNU5|G0LNU8|G0LNU9|G0LNV0|G0LNV1|G0LNV2|H3BPQ1|Q08AP2|Q08AP3|Q15439|Q15440|Q15441	Missense_Mutation	SNP	ENST00000356073.4	hg19	CCDS11960.1	.	.	.	.	.	.	.	.	.	.	A	5.592	0.294033	0.10567	.	.	ENSG00000196628	ENST00000354452;ENST00000457482;ENST00000356073;ENST00000543082;ENST00000540999;ENST00000537578;ENST00000544241;ENST00000537856;ENST00000398339	T;T;T;T;T;T;T;T;T	0.61510	0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1;0.1	6.06	6.06	0.98353	.	0.109098	0.64402	D	0.000005	T	0.24967	0.0606	N	0.00670	-1.27	0.47276	D	0.999377	B;B;B;B;B;B;B;B;B	0.13145	0.0;0.001;0.003;0.004;0.004;0.0;0.0;0.007;0.001	B;B;B;B;B;B;B;B;B	0.17098	0.001;0.008;0.017;0.011;0.003;0.002;0.002;0.008;0.003	T	0.40590	-0.9555	10	0.05721	T	0.95	-11.5015	15.6071	0.76682	1.0:0.0:0.0:0.0	.	330;354;194;456;354;312;283;194;352	B7Z5M6;G0LNT9;G0LNV1;E9PH57;P15884;B3KUC0;B3KT62;G0LNU9;G0LNU5	.;.;.;.;ITF2_HUMAN;.;.;.;.	P	354;194;354;312;330;330;283;224;456	ENSP00000346440:S354P;ENSP00000409447:S194P;ENSP00000348374:S354P;ENSP00000439656:S312P;ENSP00000445202:S330P;ENSP00000440731:S330P;ENSP00000441562:S283P;ENSP00000439827:S224P;ENSP00000381382:S456P	ENSP00000346440:S354P	S	-	1	0	TCF4	51078187	0.994000	0.37717	0.980000	0.43619	0.847000	0.48162	2.990000	0.49401	2.323000	0.78572	0.528000	0.53228	TCT	.	.		0.373	TCF4-002	KNOWN	upstream_uORF|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256014.1	NM_003199	
DSEL	92126	hgsc.bcm.edu	37	18	65178398	65178398	+	Missense_Mutation	SNP	A	A	G	rs535957295		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr18:65178398A>G	ENST00000310045.7	-	2	4951	c.3478T>C	c.(3478-3480)Tct>Cct	p.S1160P	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1150					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTAGCAGGAGACAAAGGAATT	0.373													A|||	1	0.000199681	0.0	0.0	5008	,	,		18370	0.0		0.0	False		,,,				2504	0.001				p.S1160P		Atlas-SNP	.											.	DSEL	196	.	0			c.T3478C						.						70.0	68.0	69.0					18																	65178398		2203	4300	6503	SO:0001583	missense	92126	exon2			CAGGAGACAAAGG	AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.3478T>C	chr18.hg19:g.65178398A>G	ENSP00000310565:p.Ser1160Pro	164.0	0.0		106.0	37.0	NM_032160	Q17RH1|Q6P5Z3	Missense_Mutation	SNP	ENST00000310045.7	hg19	CCDS11995.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.126555	0.37533	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.23552	1.9	4.79	4.79	0.61399	Sulfotransferase domain (1);	0.167948	0.40469	U	0.001094	T	0.18257	0.0438	L	0.31294	0.92	0.38526	D	0.948851	B	0.11235	0.004	B	0.16289	0.015	T	0.07309	-1.0779	10	0.35671	T	0.21	-21.8807	9.5771	0.39465	0.9091:0.0:0.0909:0.0	.	1150	Q8IZU8	DSEL_HUMAN	P	1160;1150	ENSP00000310565:S1160P	ENSP00000310565:S1160P	S	-	1	0	DSEL	63329378	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.859000	0.48364	1.910000	0.55303	0.460000	0.39030	TCT	.	.		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256221.1	NM_032160	
TICAM1	148022	hgsc.bcm.edu	37	19	4816573	4816573	+	Missense_Mutation	SNP	C	C	T	rs377447415		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:4816573C>T	ENST00000248244.5	-	2	2046	c.1817G>A	c.(1816-1818)cGa>cAa	p.R606Q		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	606	Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AAAGGGCATTCGAGCCCCATA	0.667																																					p.R606Q		Atlas-SNP	.											.	TICAM1	69	.	0			c.G1817A						.						31.0	32.0	32.0					19																	4816573		2203	4300	6503	SO:0001583	missense	148022	exon2			GGCATTCGAGCCC	AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1817G>A	chr19.hg19:g.4816573C>T	ENSP00000248244:p.Arg606Gln	50.0	0.0		57.0	12.0	NM_182919	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	ENST00000248244.5	hg19	CCDS12136.1	.	.	.	.	.	.	.	.	.	.	C	0.101	-1.152840	0.01700	.	.	ENSG00000127666	ENST00000248244	T	0.42513	0.97	2.87	-5.75	0.02384	.	.	.	.	.	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.29243	-1.0018	9	0.02654	T	1	0.3022	5.4632	0.16627	0.0:0.2393:0.498:0.2628	.	606	Q8IUC6	TCAM1_HUMAN	Q	606	ENSP00000248244:R606Q	ENSP00000248244:R606Q	R	-	2	0	TICAM1	4767573	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.452000	0.06787	-1.812000	0.01227	-1.474000	0.01003	CGA	.	.		0.667	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450435.1	NM_014261	
KLHL26	55295	hgsc.bcm.edu	37	19	18778935	18778935	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:18778935G>T	ENST00000300976.4	+	3	818	c.728G>T	c.(727-729)cGc>cTc	p.R243L	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	243	BACK.									breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						cggcggccgcgcgccAGCCAC	0.677																																					p.R243L		Atlas-SNP	.											.	KLHL26	43	.	0			c.G728T						.						15.0	18.0	17.0					19																	18778935		2124	4161	6285	SO:0001583	missense	55295	exon3			GGCCGCGCGCCAG		CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.728G>T	chr19.hg19:g.18778935G>T	ENSP00000300976:p.Arg243Leu	48.0	0.0		29.0	10.0	NM_018316	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	ENST00000300976.4	hg19	CCDS12384.1	.	.	.	.	.	.	.	.	.	.	G	5.707	0.314966	0.10789	.	.	ENSG00000167487	ENST00000300976	T	0.68181	-0.31	5.04	5.04	0.67666	BTB/Kelch-associated (2);	0.627207	0.16485	N	0.212341	T	0.31071	0.0785	N	0.00560	-1.38	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.13282	-1.0515	9	.	.	.	.	10.9448	0.47294	0.0864:0.0:0.9136:0.0	.	243	Q53HC5	KLH26_HUMAN	L	243	ENSP00000300976:R243L	.	R	+	2	0	KLHL26	18639935	0.003000	0.15002	0.346000	0.25655	0.906000	0.53458	0.942000	0.29017	2.341000	0.79615	0.591000	0.81541	CGC	.	.		0.677	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465145.1	NM_018316	
ZNF536	9745	hgsc.bcm.edu	37	19	30935118	30935118	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:30935118C>A	ENST00000355537.3	+	2	796	c.649C>A	c.(649-651)Ctg>Atg	p.L217M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	217					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GAAAGGCAGCCTGCTGCAGCC	0.726																																					p.L217M		Atlas-SNP	.											.	ZNF536	424	.	0			c.C649A						.						6.0	5.0	5.0					19																	30935118		2023	3978	6001	SO:0001583	missense	9745	exon2			GGCAGCCTGCTGC		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.649C>A	chr19.hg19:g.30935118C>A	ENSP00000347730:p.Leu217Met	34.0	0.0		25.0	11.0	NM_014717	A2RU18	Missense_Mutation	SNP	ENST00000355537.3	hg19	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607091	0.28623	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.94	5.94	0.96194	.	0.173018	0.39146	N	0.001448	T	0.18130	0.0435	L	0.34521	1.04	0.40131	D	0.976713	D;D	0.69078	0.988;0.997	P;P	0.57679	0.758;0.825	T	0.00312	-1.1826	10	0.46703	T	0.11	-20.6272	13.5478	0.61715	0.0:0.9292:0.0:0.0708	.	217;217	A7E228;O15090	.;ZN536_HUMAN	M	217	ENSP00000347730:L217M	ENSP00000347730:L217M	L	+	1	2	ZNF536	35626958	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	3.367000	0.52350	2.826000	0.97356	0.561000	0.74099	CTG	.	.		0.726	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
CEBPA	1050	hgsc.bcm.edu	37	19	33792731	33792731	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:33792731G>T	ENST00000498907.2	-	1	739	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	CTD-2540B15.11_ENST00000589932.1_RNA|CTD-2540B15.7_ENST00000587312.1_RNA|CEBPA-AS1_ENST00000592982.2_RNA	NM_004364.3	NP_004355.2	P49715	CEBPA_HUMAN	CCAAT/enhancer binding protein (C/EBP), alpha	197					acute-phase response (GO:0006953)|brown fat cell differentiation (GO:0050873)|cell maturation (GO:0048469)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|cholesterol metabolic process (GO:0008203)|cytokine-mediated signaling pathway (GO:0019221)|embryonic placenta development (GO:0001892)|generation of precursor metabolites and energy (GO:0006091)|inner ear development (GO:0048839)|liver development (GO:0001889)|lung development (GO:0030324)|macrophage differentiation (GO:0030225)|mitochondrion organization (GO:0007005)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ regeneration (GO:0031100)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|response to glucocorticoid (GO:0051384)|response to vitamin B2 (GO:0033274)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|urea cycle (GO:0000050)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|Rb-E2F complex (GO:0035189)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.P185_P197del(1)|p.S190_P198del(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(912)|lung(5)|prostate(1)|stomach(1)	920	Esophageal squamous(110;0.137)					GTGCGCGGGCGGCGGGTGCGG	0.771			"""Mis, N, F"""		"""AML, MDS"""				Acute Myeloid Leukemia, Familial, associated with CEBPA germline mutation																												p.P197Q		Atlas-SNP	.		Dom	yes		19	19q13.1	1050	"""CCAAT/enhancer binding protein (C/EBP), alpha"""		L	.	CEBPA	986	.	2	Deletion - In frame(2)	haematopoietic_and_lymphoid_tissue(2)	c.C590A						.						2.0	2.0	2.0					19																	33792731		646	1482	2128	SO:0001583	missense	1050	exon1	Familial Cancer Database	Familial AML	GCGGGCGGCGGGT	M37197	CCDS54243.1	19q13.1	2014-09-17				ENSG00000245848		"""basic leucine zipper proteins"""	1833	protein-coding gene	gene with protein product		116897		CEBP		1535333, 1840554	Standard	NM_004364		Approved	C/EBP-alpha	uc002nun.3	P49715		ENST00000498907.2:c.590C>A	chr19.hg19:g.33792731G>T	ENSP00000427514:p.Pro197Gln	208.0	0.0		82.0	8.0	NM_004364	A7LNP2|P78319|Q05CA4	Missense_Mutation	SNP	ENST00000498907.2	hg19	CCDS54243.1	.	.	.	.	.	.	.	.	.	.	G	5.481	0.273783	0.10403	.	.	ENSG00000245848	ENST00000498907	T	0.18174	2.23	4.04	4.04	0.47022	.	.	.	.	.	T	0.07863	0.0197	N	0.08118	0	0.26767	N	0.969872	B	0.26147	0.143	B	0.17979	0.02	T	0.28776	-1.0033	9	0.14252	T	0.57	.	9.2485	0.37541	0.0:0.0:0.7839:0.2161	.	197	P49715	CEBPA_HUMAN	Q	197	ENSP00000427514:P197Q	ENSP00000427514:P197Q	P	-	2	0	CEBPA	38484571	0.997000	0.39634	0.974000	0.42286	0.061000	0.15899	3.946000	0.56644	1.799000	0.52666	0.289000	0.19496	CCG	.	.		0.771	CEBPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365012.1	NM_004364	
SPHK2	56848	hgsc.bcm.edu	37	19	49132057	49132057	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:49132057C>T	ENST00000245222.4	+	7	1358	c.992C>T	c.(991-993)tCc>tTc	p.S331F	SPHK2_ENST00000340932.3_Intron|SPHK2_ENST00000599748.1_Missense_Mutation_p.S295F|SPHK2_ENST00000599029.1_Missense_Mutation_p.S295F|SPHK2_ENST00000598088.1_Missense_Mutation_p.S331F|SPHK2_ENST00000600537.1_Missense_Mutation_p.S272F|SPHK2_ENST00000443164.1_Missense_Mutation_p.S393F	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	331					blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CGCTGTTTCTCCTTCCTGTCT	0.642																																					p.S331F		Atlas-SNP	.											.	SPHK2	62	.	0			c.C992T						.						78.0	76.0	77.0					19																	49132057		2203	4300	6503	SO:0001583	missense	56848	exon7			GTTTCTCCTTCCT	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.992C>T	chr19.hg19:g.49132057C>T	ENSP00000245222:p.Ser331Phe	74.0	0.0		61.0	18.0	NM_020126	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Missense_Mutation	SNP	ENST00000245222.4	hg19	CCDS12727.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244527	0.59103	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000443164	T;T	0.08984	3.03;3.03	4.13	4.13	0.48395	.	0.063906	0.64402	D	0.000004	T	0.17023	0.0409	M	0.93062	3.375	0.80722	D	1	B;P;P	0.42409	0.271;0.651;0.779	B;B;B	0.34242	0.097;0.153;0.178	T	0.26780	-1.0093	10	0.72032	D	0.01	-66.6872	14.2586	0.66070	0.0:1.0:0.0:0.0	.	272;393;331	B4DU87;A0T4C8;Q9NRA0	.;.;SPHK2_HUMAN	F	331;304;393	ENSP00000245222:S331F;ENSP00000413369:S393F	ENSP00000245222:S331F	S	+	2	0	SPHK2	53823869	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.229000	0.78088	2.317000	0.78254	0.655000	0.94253	TCC	.	.		0.642	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466153.1		
PPFIA3	8541	hgsc.bcm.edu	37	19	49638145	49638145	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:49638145G>A	ENST00000334186.4	+	13	1842	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R498Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	498					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GACCAGCTGCGGGGGAGGCCA	0.647																																					p.R498Q		Atlas-SNP	.											.	PPFIA3	71	.	0			c.G1493A						.						48.0	42.0	44.0					19																	49638145		2203	4300	6503	SO:0001583	missense	8541	exon13			AGCTGCGGGGGAG	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.1493G>A	chr19.hg19:g.49638145G>A	ENSP00000335614:p.Arg498Gln	110.0	0.0		80.0	33.0	NM_003660	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	hg19	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488163	0.84854	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.20069	2.1	3.88	3.88	0.44766	.	0.000000	0.32068	U	0.006640	T	0.43433	0.1247	M	0.71036	2.16	0.51012	D	0.999901	D;D;P	0.76494	0.999;0.998;0.903	D;P;B	0.66497	0.944;0.905;0.34	T	0.47005	-0.9150	10	0.59425	D	0.04	-18.3502	14.9742	0.71257	0.0:0.0:1.0:0.0	.	422;498;498	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	Q	498;422	ENSP00000335614:R498Q	ENSP00000335614:R498Q	R	+	2	0	PPFIA3	54329957	1.000000	0.71417	0.992000	0.48379	0.807000	0.45602	5.669000	0.68081	1.895000	0.54865	0.313000	0.20887	CGG	.	.		0.647	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660	
ASPDH	554235	hgsc.bcm.edu	37	19	51017056	51017056	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:51017056C>T	ENST00000389208.4	-	1	86	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	JOSD2_ENST00000598418.1_5'Flank|JOSD2_ENST00000601423.1_5'Flank|ASPDH_ENST00000597030.1_Intron|ASPDH_ENST00000376916.3_Intron|JOSD2_ENST00000391815.3_5'Flank|JOSD2_ENST00000595669.1_5'Flank	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	9					NAD biosynthetic process (GO:0009435)|NADP catabolic process (GO:0006742)		aspartate dehydrogenase activity (GO:0033735)|NADP binding (GO:0050661)			endometrium(1)|large_intestine(1)|lung(1)	3						ACCACGCCCACCCTCCACGGG	0.692																																					p.V9M		Atlas-SNP	.											.	ASPDH	22	.	0			c.G25A						.						37.0	46.0	43.0					19																	51017056		692	1591	2283	SO:0001583	missense	554235	exon1			CGCCCACCCTCCA		CCDS33082.1, CCDS46153.1	19q13.33	2012-10-02			ENSG00000204653	ENSG00000204653			33856	protein-coding gene	gene with protein product							Standard	NM_001024656		Approved		uc010enz.3	A6ND91		ENST00000389208.4:c.25G>A	chr19.hg19:g.51017056C>T	ENSP00000373860:p.Val9Met	340.0	0.0		257.0	14.0	NM_001114598	Q6NZ37	Missense_Mutation	SNP	ENST00000389208.4	hg19	CCDS46153.1	.	.	.	.	.	.	.	.	.	.	C	18.30	3.593862	0.66219	.	.	ENSG00000204653	ENST00000389208	T	0.60299	0.2	3.76	3.76	0.43208	NAD(P)-binding domain (1);	0.147637	0.30686	U	0.009100	T	0.58864	0.2152	M	0.62723	1.935	0.41431	D	0.987865	P	0.48162	0.906	P	0.46585	0.521	T	0.66172	-0.5990	10	0.87932	D	0	.	11.4424	0.50105	0.0:1.0:0.0:0.0	.	9	A6ND91	ASPD_HUMAN	M	9	ENSP00000373860:V9M	ENSP00000373860:V9M	V	-	1	0	ASPDH	55708868	0.261000	0.24063	0.977000	0.42913	0.759000	0.43091	2.068000	0.41471	1.829000	0.53265	0.462000	0.41574	GTG	.	.		0.692	ASPDH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464861.1	NM_001024656	
ZNF578	147660	hgsc.bcm.edu	37	19	53013919	53013919	+	Silent	SNP	T	T	C			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr19:53013919T>C	ENST00000421239.2	+	6	529	c.285T>C	c.(283-285)agT>agC	p.S95S	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	95	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		GACATGAAAGTTATCACACTG	0.393																																					p.S95S		Atlas-SNP	.											.	.	.	.	0			c.T285C						.						114.0	119.0	117.0					19																	53013919		2202	4300	6502	SO:0001819	synonymous_variant	147660	exon6			TGAAAGTTATCAC	AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.285T>C	chr19.hg19:g.53013919T>C		254.0	0.0		222.0	94.0	NM_001099694	B4DR51|I3L1Y6	Silent	SNP	ENST00000421239.2	hg19	CCDS54310.1																																																																																			.	.		0.393	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344298.3	NM_152472	
C20orf202	400831	hgsc.bcm.edu	37	20	1184179	1184179	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr20:1184179C>T	ENST00000400633.1	+	1	82	c.19C>T	c.(19-21)Cct>Tct	p.P7S		NM_001009612.2	NP_001009612.1	A1L168	CT202_HUMAN	chromosome 20 open reading frame 202	7										endometrium(1)	1						GTCAAAGATCCCTCGGGCCCA	0.507																																					p.P7S		Atlas-SNP	.											.	C20orf202	12	.	0			c.C19T						.						59.0	57.0	58.0					20																	1184179		692	1591	2283	SO:0001583	missense	400831	exon1			AAGATCCCTCGGG		CCDS46567.1	20p13	2009-09-10			ENSG00000215595	ENSG00000215595			37254	protein-coding gene	gene with protein product							Standard	NM_001009612		Approved		uc002wer.4	A1L168	OTTHUMG00000129375	ENST00000400633.1:c.19C>T	chr20.hg19:g.1184179C>T	ENSP00000383474:p.Pro7Ser	191.0	0.0		170.0	67.0	NM_001009612		Missense_Mutation	SNP	ENST00000400633.1	hg19	CCDS46567.1	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271324	0.05716	.	.	ENSG00000215595	ENST00000400633	.	.	.	4.43	1.5	0.22942	.	.	.	.	.	T	0.33030	0.0849	L	0.44542	1.39	0.09310	N	1	B	0.16603	0.018	B	0.21360	0.034	T	0.31998	-0.9923	8	0.62326	D	0.03	-2.5721	6.2433	0.20803	0.0:0.6927:0.0:0.3073	.	7	A1L168	CT202_HUMAN	S	7	.	ENSP00000383474:P7S	P	+	1	0	C20orf202	1132179	0.000000	0.05858	0.000000	0.03702	0.424000	0.31475	0.340000	0.19892	0.392000	0.25172	0.655000	0.94253	CCT	.	.		0.507	C20orf202-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251531.1	NM_001009612	
XRN2	22803	hgsc.bcm.edu	37	20	21312938	21312938	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr20:21312938G>A	ENST00000377191.3	+	9	813	c.718G>A	c.(718-720)Ggc>Agc	p.G240S	XRN2_ENST00000430571.2_Missense_Mutation_p.G164S|XRN2_ENST00000539513.1_Missense_Mutation_p.G186S	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	240				GLATHE -> AFPHMN (in Ref. 1; AAQ13577). {ECO:0000305}.	cell growth (GO:0016049)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA catabolic process (GO:0006401)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	aggresome (GO:0016235)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-3' exoribonuclease activity (GO:0004534)|nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CATTATGCTTGGCCTTGCCAC	0.388																																					p.G240S		Atlas-SNP	.											.	XRN2	90	.	0			c.G718A						.						110.0	101.0	104.0					20																	21312938		2203	4300	6503	SO:0001583	missense	22803	exon9			ATGCTTGGCCTTG	AF064257	CCDS13144.1	20p11.2-p11.1	2011-09-12			ENSG00000088930	ENSG00000088930	3.1.13.-		12836	protein-coding gene	gene with protein product		608851				10409438	Standard	NM_012255		Approved		uc002wsf.1	Q9H0D6	OTTHUMG00000032025	ENST00000377191.3:c.718G>A	chr20.hg19:g.21312938G>A	ENSP00000366396:p.Gly240Ser	102.0	0.0		80.0	33.0	NM_012255	Q3L8N4|Q6KGZ9|Q9BQL1|Q9NTW0|Q9NXS6|Q9UL53	Missense_Mutation	SNP	ENST00000377191.3	hg19	CCDS13144.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164116	0.94727	.	.	ENSG00000088930	ENST00000377191;ENST00000430571;ENST00000539513	T;T;T	0.38722	1.17;1.16;1.12	5.51	5.51	0.81932	Putative 5-3 exonuclease (1);	0.000000	0.85682	D	0.000000	T	0.64057	0.2564	M	0.62266	1.93	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62011	-0.6944	10	0.45353	T	0.12	-10.3936	19.4218	0.94725	0.0:0.0:1.0:0.0	.	240	Q9H0D6	XRN2_HUMAN	S	240;164;186	ENSP00000366396:G240S;ENSP00000413548:G164S;ENSP00000441113:G186S	ENSP00000366396:G240S	G	+	1	0	XRN2	21260938	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.837000	0.99465	2.583000	0.87209	0.655000	0.94253	GGC	.	.		0.388	XRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078273.2	NM_012255	
PIWIL3	440822	hgsc.bcm.edu	37	22	25145785	25145785	+	Splice_Site	SNP	T	T	G			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr22:25145785T>G	ENST00000332271.5	-	10	1507	c.1091A>C	c.(1090-1092)cAa>cCa	p.Q364P	PIWIL3_ENST00000533313.1_Splice_Site_p.Q255P|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Splice_Site_p.Q255P	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	364	PAZ. {ECO:0000255|PROSITE- ProRule:PRU00142}.				cell differentiation (GO:0030154)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTCTTTATGTTGCTGCTCAAC	0.458																																					p.Q364P		Atlas-SNP	.											.	PIWIL3	115	.	0			c.A1091C						.						110.0	88.0	95.0					22																	25145785		2203	4300	6503	SO:0001630	splice_region_variant	440822	exon10			TTATGTTGCTGCT	AB079368	CCDS33623.1	22q11.23	2013-02-15	2013-02-15		ENSG00000184571	ENSG00000184571		"""Argonaute/PIWI family"""	18443	protein-coding gene	gene with protein product		610314	"""piwi-like 3 (Drosophila)"""			12906857	Standard	NM_001008496		Approved	HIWI3	uc003abd.2	Q7Z3Z3	OTTHUMG00000150788	ENST00000332271.5:c.1090-1A>C	chr22.hg19:g.25145785T>G		88.0	0.0		81.0	31.0	NM_001008496		Missense_Mutation	SNP	ENST00000332271.5	hg19	CCDS33623.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337696	0.41398	.	.	ENSG00000184571	ENST00000332271;ENST00000533313;ENST00000527701	T;T;T	0.15372	2.43;2.43;2.43	2.0	-0.403	0.12400	Argonaute/Dicer protein, PAZ (4);	0.146424	0.47852	U	0.000215	T	0.34803	0.0910	M	0.81614	2.55	0.28036	N	0.933932	D;P;D	0.64830	0.977;0.952;0.994	D;D;D	0.78314	0.967;0.936;0.991	T	0.11397	-1.0589	10	0.66056	D	0.02	-0.9522	5.2577	0.15555	0.0:0.3813:0.0:0.6187	.	255;364;364	E9PIP6;B4DYF7;Q7Z3Z3	.;.;PIWL3_HUMAN	P	364;255;255	ENSP00000330031:Q364P;ENSP00000431843:Q255P;ENSP00000435718:Q255P	ENSP00000330031:Q364P	Q	-	2	0	PIWIL3	23475785	0.979000	0.34478	0.047000	0.18901	0.509000	0.34042	0.697000	0.25556	-0.137000	0.11455	0.260000	0.18958	CAA	.	.		0.458	PIWIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320084.2	NM_001008496	Missense_Mutation
APOBEC3H	164668	hgsc.bcm.edu	37	22	39497462	39497462	+	Missense_Mutation	SNP	G	G	A	rs374311513		TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr22:39497462G>A	ENST00000401756.1	+	3	447	c.371G>A	c.(370-372)cGg>cAg	p.R124Q	APOBEC3H_ENST00000442487.3_Missense_Mutation_p.R124Q|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.R124Q|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.R124Q	NM_001166003.1	NP_001159475.1	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	124					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral process (GO:0048525)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					AAGGGGCTGCGGCTTCTGTGT	0.592													G|||	1	0.000199681	0.0008	0.0	5008	,	,		6331	0.0		0.0	False		,,,				2504	0.0				p.R124Q		Atlas-SNP	.											.	APOBEC3H	28	.	0			c.G371A						.	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404		0,2,2201	49.0	47.0	48.0		371,371,371,371	-6.7	0.0	22		48	0,8600		0,0,4300	no	missense,missense,missense,missense	APOBEC3H	NM_001166002.1,NM_001166003.1,NM_001166004.1,NM_181773.3	43,43,43,43	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign,benign,benign	124/183,124/201,124/155,124/184	39497462	2,13004	2203	4300	6503	SO:0001583	missense	164668	exon3			GGCTGCGGCTTCT	BC069023	CCDS13985.1, CCDS54530.1, CCDS54531.1, CCDS54532.1	22q13.1	2007-02-01			ENSG00000100298	ENSG00000100298		"""Apolipoprotein B mRNA editing enzymes"""	24100	protein-coding gene	gene with protein product		610976				16571802	Standard	NM_001166003		Approved	ARP10	uc021wpt.1	Q6NTF7	OTTHUMG00000151082	ENST00000401756.1:c.371G>A	chr22.hg19:g.39497462G>A	ENSP00000385741:p.Arg124Gln	87.0	0.0		58.0	25.0	NM_001166003	B0QYP0|B0QYP1|B7TQM5|E9PF38|Q5JYL9|Q6IC87	Missense_Mutation	SNP	ENST00000401756.1	hg19	CCDS54530.1	.	.	.	.	.	.	.	.	.	.	.	2.502	-0.314970	0.05422	4.54E-4	0.0	ENSG00000100298	ENST00000348946;ENST00000442487;ENST00000421988;ENST00000401756	T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56	3.33	-6.67	0.01783	.	.	.	.	.	T	0.46328	0.1387	N	0.16201	0.385	0.09310	N	1	B	0.12013	0.005	B	0.10450	0.005	T	0.31998	-0.9923	9	0.20046	T	0.44	-24.1796	9.9638	0.41712	0.1812:0.0:0.6888:0.13	.	124	B7TQM3	.	Q	124	ENSP00000216123:R124Q;ENSP00000411754:R124Q;ENSP00000393520:R124Q;ENSP00000385741:R124Q	ENSP00000216123:R124Q	R	+	2	0	APOBEC3H	37827408	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.644000	0.05415	-2.206000	0.00741	-3.029000	0.00073	CGG	.	.		0.592	APOBEC3H-002	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000321230.1	NM_181773	
ZNF804A	91752	hgsc.bcm.edu	37	2	185803460	185803471	+	In_Frame_Del	DEL	GCAGCTGCAGCC	GCAGCTGCAGCC	-	rs151203071|rs111695281|rs143955610|rs149962176	byFrequency	TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	GCAGCTGCAGCC	GCAGCTGCAGCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr2:185803460_185803471delGCAGCTGCAGCC	ENST00000302277.6	+	4	3931_3942	c.3337_3348delGCAGCTGCAGCC	c.(3337-3348)gcagctgcagccdel	p.AAAA1113del		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1113							metal ion binding (GO:0046872)	p.A1114G(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						tgctgcagctgcagctgcagccgcagctgcag	0.524																																					p.1112_1116del		Atlas-INDEL	.											.	ZNF804A	322	.	1	Substitution - Missense(1)	lung(1)	c.3336_3347del						.																																			SO:0001651	inframe_deletion	91752	exon4			.	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3337_3348delGCAGCTGCAGCC	chr2.hg19:g.185803460_185803471delGCAGCTGCAGCC	ENSP00000303252:p.Ala1113_Ala1116del	86.0	0.0		94.0	30.0	NM_194250	A7E253|Q6ZN26	In_Frame_Del	DEL	ENST00000302277.6	hg19	CCDS2291.1																																																																																			.	.		0.524	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
ARID1A	8289	hgsc.bcm.edu	37	1	27097800	27097809	+	Frame_Shift_Del	DEL	TCCAGCCTCC	TCCAGCCTCC	-			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	TCCAGCCTCC	TCCAGCCTCC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr1:27097800_27097809delTCCAGCCTCC	ENST00000324856.7	+	12	3760_3769	c.3389_3398delTCCAGCCTCC	c.(3388-3399)atccagcctcccfs	p.IQPP1130fs	ARID1A_ENST00000374152.2_Frame_Shift_Del_p.IQPP747fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.IQPP1130fs|ARID1A_ENST00000540690.1_5'Flank	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1130					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)	p.Q1131*(3)|p.Q1131fs*30(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGCCCAAGATCCAGCCTCCCTCTCCTGGT	0.543			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.1130_1133del		Atlas-INDEL	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.	ARID1A	842	.	4	Substitution - Nonsense(3)|Deletion - Frameshift(1)	skin(2)|ovary(1)|endometrium(1)	c.3388_3397del						.																																			SO:0001589	frameshift_variant	8289	exon12			.	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.3389_3398delTCCAGCCTCC	chr1.hg19:g.27097800_27097809delTCCAGCCTCC	ENSP00000320485:p.Ile1130fs	137.0	0.0		36.0	22.0	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	hg19	CCDS285.1																																																																																			.	.		0.543	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
COL11A2	1302	hgsc.bcm.edu	37	6	33145203	33145204	+	In_Frame_Ins	INS	-	-	GCC			TCGA-DD-AADP-01A-11D-A38X-10	TCGA-DD-AADP-10A-01D-A38X-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	22a818c7-14c6-4d8e-9aeb-88d94ff13da0	f2bd6609-3c48-48a0-8e21-c0d91ed42912	g.chr6:33145203_33145204insGCC	ENST00000374708.4	-	21	1956_1957	c.1698_1699insGGC	c.(1696-1701)ggcacc>ggcGGCacc	p.566_567insG	COL11A2_ENST00000341947.2_In_Frame_Ins_p.652_653insG|COL11A2_ENST00000374714.1_In_Frame_Ins_p.626_627insG|COL11A2_ENST00000374713.1_In_Frame_Ins_p.605_606insG|COL11A2_ENST00000395197.1_In_Frame_Ins_p.592_593insG|COL11A2_ENST00000374712.1_In_Frame_Ins_p.571_572insG|COL11A2_ENST00000361917.1_In_Frame_Ins_p.545_546insG|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000357486.1_In_Frame_Ins_p.631_632insG	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	652	Collagen-like 3.|Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GTCCCAGGGGTGCCCTGTTGTC	0.564																																					p.T653delinsGT	Melanoma(1;90 116 3946 5341 17093)	Atlas-INDEL	.											.	COL11A2	124	.	0			c.1957_1958insGGC						.																																			SO:0001652	inframe_insertion	1302	exon23			.	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.1696_1698dupGGC	chr6.hg19:g.33145204_33145206dupGCC	ENSP00000363840:p.Gly566_Gly566dup	109.0	0.0		73.0	23.0	NM_080680	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	In_Frame_Ins	INS	ENST00000374708.4	hg19	CCDS43452.1																																																																																			.	.		0.564	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2		
