#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
FAM213B	127281	hgsc.bcm.edu	37	1	2520399	2520399	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:2520399C>G	ENST00000378425.5	+	6	575	c.499C>G	c.(499-501)Cca>Gca	p.P167A	FAM213B_ENST00000419916.2_Missense_Mutation_p.P197A|FAM213B_ENST00000378424.4_Missense_Mutation_p.P204R|FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000537325.1_Missense_Mutation_p.P160A|FAM213B_ENST00000444521.2_Missense_Mutation_p.P185A			Q8TBF2	PGFS_HUMAN	family with sequence similarity 213, member B	167					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|myelin sheath (GO:0043209)	oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|prostaglandin-F synthase activity (GO:0047017)	p.P167T(1)									CCAGAAGTCCCCAGGCGACTA	0.652																																					p.P215A		Atlas-SNP	.											C1orf93,caecum,carcinoma,0,1	.	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C643G						.						62.0	62.0	62.0					1																	2520399		2203	4300	6503	SO:0001583	missense	127281	exon6			AAGTCCCCAGGCG	AK075273	CCDS44.1, CCDS44.2, CCDS55564.1, CCDS72690.1, CCDS72691.1	1p36.32	2011-12-08	2011-11-24	2011-11-24	ENSG00000157870	ENSG00000157870	1.11.1.20		28390	protein-coding gene	gene with protein product	"""prostamide/prostaglandin F synthase"""		"""chromosome 1 open reading frame 93"""	C1orf93		18006499	Standard	NM_152371		Approved	MGC26818	uc001ajv.2	Q8TBF2	OTTHUMG00000000847	ENST00000378425.5:c.499C>G	chr1.hg19:g.2520399C>G	ENSP00000367682:p.Pro167Ala	46.0	1.0		169.0	34.0	NM_001195736	A8K793|B3KPY3|B4DQR9|B4E0S5|B7ZAC8|B9DI90|B9DI92|J3KQD0|Q8N2H0	Missense_Mutation	SNP	ENST00000378425.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.352|6.352	0.433117|0.433117	0.12045|0.12045	.|.	.|.	ENSG00000157870|ENSG00000157870	ENST00000419916;ENST00000537325;ENST00000378425;ENST00000444521|ENST00000378424	T;T;T;T|T	0.50548|0.50548	0.99;0.74;1.01;0.89|0.74	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	1.149570|1.149570	0.06726|0.06726	N|N	0.775697|0.775697	T|T	0.42381|0.42381	0.1200|0.1200	.|.	.|.	.|.	0.50632|0.50632	D|D	0.99988|0.99988	D;D;D;D;P|P	0.89917|0.36837	1.0;0.982;0.98;0.98;0.929|0.571	D;P;P;P;B|B	0.91635|0.33254	0.999;0.831;0.79;0.838;0.408|0.16	T|T	0.33033|0.33033	-0.9884|-0.9884	9|9	0.15952|0.56958	T|D	0.53|0.05	-3.3791|-3.3791	12.413|12.413	0.55478|0.55478	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	160;131;193;185;167|156	Q8TBF2-5;Q8TBF2-4;Q8TBF2-6;Q8TBF2-3;Q8TBF2|Q8TBF2-2	.;.;.;.;PGFS_HUMAN|.	A|R	197;160;167;185|204	ENSP00000394405:P197A;ENSP00000443605:P160A;ENSP00000367682:P167A;ENSP00000413218:P185A|ENSP00000367681:P204R	ENSP00000367682:P167A|ENSP00000367681:P204R	P|P	+|+	1|2	0|0	C1orf93|C1orf93	2510259|2510259	0.975000|0.975000	0.34042|0.34042	0.701000|0.701000	0.30321|0.30321	0.011000|0.011000	0.07611|0.07611	5.228000|5.228000	0.65310|0.65310	2.301000|2.301000	0.77427|0.77427	0.313000|0.313000	0.20887|0.20887	CCA|CCC	.	.		0.652	FAM213B-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_152371	
MMEL1	79258	hgsc.bcm.edu	37	1	2535696	2535696	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:2535696T>C	ENST00000378412.3	-	10	1002	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	MMEL1_ENST00000288709.6_Missense_Mutation_p.M272V|MMEL1_ENST00000502556.1_Intron			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	281						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACTGACACCATGAACTGCAGG	0.652																																					p.M281V		Atlas-SNP	.											.	MMEL1	64	.	0			c.A841G						.						63.0	65.0	64.0					1																	2535696		2202	4299	6501	SO:0001583	missense	79258	exon10			ACACCATGAACTG	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.841A>G	chr1.hg19:g.2535696T>C	ENSP00000367668:p.Met281Val	76.0	0.0		235.0	28.0	NM_033467	B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	hg19	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	T	18.27	3.585868	0.66105	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.75050	-0.9;-0.9	4.43	4.43	0.53597	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.85639	0.5743	M	0.82823	2.61	0.80722	D	1	D	0.76494	0.999	D	0.69654	0.965	D	0.87970	0.2736	10	0.87932	D	0	-31.6286	13.1682	0.59583	0.0:0.0:0.0:1.0	.	281	Q495T6	MMEL1_HUMAN	V	272;281	ENSP00000288709:M272V;ENSP00000367668:M281V	ENSP00000288709:M272V	M	-	1	0	MMEL1	2525556	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.567000	0.53813	1.741000	0.51731	0.397000	0.26171	ATG	.	.		0.652	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467	
ACTRT2	140625	hgsc.bcm.edu	37	1	2938475	2938475	+	Silent	SNP	C	C	T	rs144521527		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:2938475C>T	ENST00000378404.2	+	1	430	c.225C>T	c.(223-225)ttC>ttT	p.F75F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	75						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		ACTCCCCTTTCGAGCGTGGCC	0.597																																					p.F75F		Atlas-SNP	.											.	ACTRT2	69	.	0			c.C225T						.	C		1,4405	2.1+/-5.4	0,1,2202	73.0	73.0	73.0		225	-1.3	1.0	1	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTRT2	NM_080431.4		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		75/378	2938475	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	140625	exon1			CCCTTTCGAGCGT	AF440740, AB057364	CCDS45.1	1p36.3	2008-02-05	2005-11-22		ENSG00000169717	ENSG00000169717			24026	protein-coding gene	gene with protein product		608535				11750065, 12243744	Standard	NM_080431		Approved	Arp-T2, ARPM2, FLJ25424	uc001ajz.3	Q8TDY3	OTTHUMG00000000562	ENST00000378404.2:c.225C>T	chr1.hg19:g.2938475C>T		48.0	0.0		93.0	11.0	NM_080431	B1AN52|Q8NHS6|Q8TDG1	Silent	SNP	ENST00000378404.2	hg19	CCDS45.1																																																																																			.	C|1.000;T|0.000		0.597	ACTRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001331.1	NM_080431	
H6PD	9563	hgsc.bcm.edu	37	1	9305494	9305494	+	Nonsense_Mutation	SNP	G	G	A	rs559063919		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:9305494G>A	ENST00000377403.2	+	2	803	c.501G>A	c.(499-501)tgG>tgA	p.W167*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.W178*	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	167	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CGGGCGCCTGGCTGCGGGTTG	0.597																																					p.W167X		Atlas-SNP	.											.	H6PD	71	.	0			c.G501A						.						46.0	55.0	52.0					1																	9305494		2203	4300	6503	SO:0001587	stop_gained	9563	exon2			CGCCTGGCTGCGG	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.501G>A	chr1.hg19:g.9305494G>A	ENSP00000366620:p.Trp167*	16.0	0.0		63.0	11.0	NM_004285	Q4TT33|Q66I35|Q68DT3	Nonsense_Mutation	SNP	ENST00000377403.2	hg19	CCDS101.1	.	.	.	.	.	.	.	.	.	.	G	40	8.156138	0.98680	.	.	ENSG00000049239	ENST00000377403	.	.	.	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.7585	18.3309	0.90268	0.0:0.0:1.0:0.0	.	.	.	.	X	167	.	ENSP00000366620:W167X	W	+	3	0	H6PD	9228081	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.358000	0.97109	2.641000	0.89580	0.591000	0.81541	TGG	.	.		0.597	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004928.2	NM_004285	
SRM	6723	hgsc.bcm.edu	37	1	11119332	11119332	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:11119332G>A	ENST00000376957.2	-	2	318	c.238C>T	c.(238-240)Cag>Tag	p.Q80*		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	80	PABS.				cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)	cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)|spermidine synthase activity (GO:0004766)			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)	ATCATCTCCTGGTAGGAGAAC	0.637																																					p.Q80X		Atlas-SNP	.											.	SRM	18	.	0			c.C238T						.						116.0	101.0	106.0					1																	11119332		2203	4300	6503	SO:0001587	stop_gained	6723	exon2			TCTCCTGGTAGGA	BC033106	CCDS125.1	1p36-p22	2010-11-08			ENSG00000116649	ENSG00000116649	2.5.1.16		11296	protein-coding gene	gene with protein product		182891		SRML1		2344393	Standard	NM_003132		Approved	SPS1	uc001arz.1	P19623	OTTHUMG00000002119	ENST00000376957.2:c.238C>T	chr1.hg19:g.11119332G>A	ENSP00000366156:p.Gln80*	71.0	0.0		178.0	8.0	NM_003132	B1AKP9|Q15511	Nonsense_Mutation	SNP	ENST00000376957.2	hg19	CCDS125.1	.	.	.	.	.	.	.	.	.	.	G	37	6.242829	0.97408	.	.	ENSG00000116649	ENST00000376957	.	.	.	4.3	4.3	0.51218	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.289	0.66265	0.0:0.0:1.0:0.0	.	.	.	.	X	80	.	ENSP00000366156:Q80X	Q	-	1	0	SRM	11041919	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.865000	0.92300	2.191000	0.70037	0.448000	0.29417	CAG	.	.		0.637	SRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006056.1	NM_003132	
DHRS3	9249	hgsc.bcm.edu	37	1	12677249	12677249	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:12677249G>T	ENST00000376223.2	-	1	488	c.105C>A	c.(103-105)gaC>gaA	p.D35E	RP11-474O21.5_ENST00000606790.1_lincRNA|DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	35					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	CCCGCGACAGGTCCCGCAGCT	0.662																																					p.D35E		Atlas-SNP	.											.	DHRS3	18	.	0			c.C105A						.						61.0	65.0	64.0					1																	12677249		2203	4298	6501	SO:0001583	missense	9249	exon1			CGACAGGTCCCGC	AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.105C>A	chr1.hg19:g.12677249G>T	ENSP00000365397:p.Asp35Glu	42.0	0.0		120.0	45.0	NM_004753	B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	ENST00000376223.2	hg19	CCDS146.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.671885	0.67928	.	.	ENSG00000162496	ENST00000376223	D	0.90133	-2.62	5.05	4.12	0.48240	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.81955	0.4932	N	0.08118	0	0.52099	D	0.999943	P;B;P	0.46395	0.877;0.34;0.877	B;B;B	0.43194	0.411;0.171;0.411	T	0.82145	-0.0602	10	0.38643	T	0.18	.	13.7562	0.62937	0.0:0.0:0.8449:0.1551	.	35;35;35	B2R7F3;O75911-2;O75911	.;.;DHRS3_HUMAN	E	35	ENSP00000365397:D35E	ENSP00000365397:D35E	D	-	3	2	DHRS3	12599836	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.051000	0.57412	1.066000	0.40716	0.561000	0.74099	GAC	.	.		0.662	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005318.1	NM_004753	
TMEM82	388595	hgsc.bcm.edu	37	1	16073479	16073479	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:16073479T>A	ENST00000375782.1	+	5	1013	c.875T>A	c.(874-876)cTt>cAt	p.L292H	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	292	Leu-rich.					integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGCATCCTTGTCTCCCTA	0.672																																					p.L292H		Atlas-SNP	.											.	TMEM82	30	.	0			c.T875A						.						99.0	87.0	91.0					1																	16073479		2203	4300	6503	SO:0001583	missense	388595	exon5			GCATCCTTGTCTC		CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.875T>A	chr1.hg19:g.16073479T>A	ENSP00000364938:p.Leu292His	72.0	0.0		187.0	19.0	NM_001013641	B2RP27|Q5VVD4	Missense_Mutation	SNP	ENST00000375782.1	hg19	CCDS30608.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.608396	0.46527	.	.	ENSG00000162460	ENST00000375782	T	0.54279	0.58	4.8	3.67	0.42095	.	0.709482	0.13524	N	0.381498	T	0.58892	0.2154	L	0.38175	1.15	0.21627	N	0.999612	D	0.71674	0.998	D	0.63192	0.912	T	0.48559	-0.9025	10	0.72032	D	0.01	-4.3264	9.972	0.41761	0.0:0.0812:0.0:0.9188	.	292	A0PJX8	TMM82_HUMAN	H	292	ENSP00000364938:L292H	ENSP00000364938:L292H	L	+	2	0	TMEM82	15946066	0.439000	0.25610	0.002000	0.10522	0.114000	0.19823	4.145000	0.58065	0.862000	0.35528	0.379000	0.24179	CTT	.	.		0.672	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008471.2	NM_001013641	
SYF2	25949	hgsc.bcm.edu	37	1	25558651	25558651	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:25558651C>A	ENST00000236273.4	-	2	101	c.76G>T	c.(76-78)Gcc>Tcc	p.A26S	SYF2_ENST00000354361.3_Missense_Mutation_p.A26S|SYF2_ENST00000476231.1_5'UTR	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	26					embryonic organ development (GO:0048568)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|mitotic G2 DNA damage checkpoint (GO:0007095)|mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		TTCTGAGCGGCCAGCTCCGCC	0.647																																					p.A26S		Atlas-SNP	.											.	SYF2	13	.	0			c.G76T						.						21.0	25.0	24.0					1																	25558651		2203	4300	6503	SO:0001583	missense	25949	exon2			GAGCGGCCAGCTC	AF273089	CCDS258.1, CCDS259.1	1p36.11	2013-08-21	2013-08-21	2005-09-14	ENSG00000117614	ENSG00000117614			19824	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 29"""	607090	"""CCNDBP1 interactor"", ""SYF2 homolog, RNA splicing factor (S. cerevisiae)"""	CBPIN		11118353	Standard	NM_207170		Approved	p29, DKFZp564O2082, NTC31, fSAP29	uc001bjt.1	O95926	OTTHUMG00000043610	ENST00000236273.4:c.76G>T	chr1.hg19:g.25558651C>A	ENSP00000236273:p.Ala26Ser	48.0	0.0		110.0	21.0	NM_207170	Q5TH73	Missense_Mutation	SNP	ENST00000236273.4	hg19	CCDS259.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204648	0.79127	.	.	ENSG00000117614	ENST00000236273;ENST00000354361	T;T	0.47869	0.88;0.83	5.42	3.54	0.40534	.	0.104346	0.64402	N	0.000002	T	0.33847	0.0877	L	0.41236	1.265	0.54753	D	0.99998	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.001	T	0.08330	-1.0727	10	0.13470	T	0.59	-11.5655	9.2119	0.37324	0.146:0.7773:0.0:0.0768	.	26;26;26	B4E0Y8;B2RBX8;O95926	.;.;SYF2_HUMAN	S	26	ENSP00000236273:A26S;ENSP00000346330:A26S	ENSP00000236273:A26S	A	-	1	0	SYF2	25431238	1.000000	0.71417	0.992000	0.48379	0.806000	0.45545	2.272000	0.43373	0.651000	0.30788	0.561000	0.74099	GCC	.	.		0.647	SYF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000101962.1	NM_015484	
PHACTR4	65979	hgsc.bcm.edu	37	1	28800595	28800595	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:28800595C>G	ENST00000373839.3	+	7	1614	c.1353C>G	c.(1351-1353)agC>agG	p.S451R	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.S461R	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	451					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGTGACAGCTTTTCTGAGG	0.468																																					p.S461R		Atlas-SNP	.											.	PHACTR4	64	.	0			c.C1383G						.						120.0	121.0	121.0					1																	28800595		1970	4162	6132	SO:0001583	missense	65979	exon6			TGACAGCTTTTCT	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1353C>G	chr1.hg19:g.28800595C>G	ENSP00000362945:p.Ser451Arg	59.0	0.0		150.0	11.0	NM_023923	A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	hg19	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633920	0.03584	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.23348	1.91;1.91	5.75	4.83	0.62350	.	1.347100	0.04068	N	0.307570	T	0.20659	0.0497	N	0.25647	0.755	0.19575	N	0.999967	B;B	0.31383	0.321;0.112	B;B	0.32465	0.146;0.068	T	0.29243	-1.0018	10	0.16420	T	0.52	-0.0126	7.5436	0.27753	0.0:0.7135:0.1374:0.1491	.	461;451	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	R	451;461;450	ENSP00000362945:S451R;ENSP00000362942:S461R	ENSP00000362942:S461R	S	+	3	2	PHACTR4	28673182	0.332000	0.24722	0.921000	0.36526	0.059000	0.15707	0.877000	0.28106	1.424000	0.47217	0.655000	0.94253	AGC	.	.		0.468	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923	
EVA1B	55194	hgsc.bcm.edu	37	1	36788575	36788575	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:36788575G>C	ENST00000270824.1	-	2	355	c.64C>G	c.(64-66)Cgc>Ggc	p.R22G	RP11-268J15.5_ENST00000373137.2_5'Flank|SH3D21_ENST00000474766.1_Intron|EVA1B_ENST00000490466.1_5'UTR	NM_018166.1	NP_060636.1	Q9NVM1	EVA1B_HUMAN	eva-1 homolog B (C. elegans)	22						integral component of membrane (GO:0016021)											CCCTCACCGCGGATGTGCGCG	0.701																																					p.R22G		Atlas-SNP	.											.	.	.	.	0			c.C64G						.						40.0	45.0	44.0					1																	36788575		2203	4300	6503	SO:0001583	missense	55194	exon2			CACCGCGGATGTG	AK001509	CCDS406.1	1p34.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000142694	ENSG00000142694			25558	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 78"", ""family with sequence similarity 176, member B"""	C1orf78, FAM176B		14702039	Standard	XM_005270998		Approved	FLJ10647	uc001caj.1	Q9NVM1	OTTHUMG00000007867	ENST00000270824.1:c.64C>G	chr1.hg19:g.36788575G>C	ENSP00000270824:p.Arg22Gly	94.0	0.0		244.0	21.0	NM_018166	D3DPS7	Missense_Mutation	SNP	ENST00000270824.1	hg19	CCDS406.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158435	0.78114	.	.	ENSG00000142694	ENST00000270824	T	0.48201	0.82	4.59	2.53	0.30540	.	0.066949	0.64402	D	0.000017	T	0.48370	0.1496	L	0.57536	1.79	0.48901	D	0.999725	P	0.52170	0.951	P	0.47744	0.556	T	0.52503	-0.8567	10	0.72032	D	0.01	.	10.318	0.43749	0.0:0.0:0.6473:0.3527	.	22	Q9NVM1	F176B_HUMAN	G	22	ENSP00000270824:R22G	ENSP00000270824:R22G	R	-	1	0	FAM176B	36561162	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	0.961000	0.29267	0.889000	0.36185	0.462000	0.41574	CGC	.	.		0.701	EVA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021689.1	NM_018166	
SF3A3	10946	hgsc.bcm.edu	37	1	38453345	38453345	+	Missense_Mutation	SNP	C	C	T	rs372195588		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:38453345C>T	ENST00000373019.4	-	4	1158	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Intron	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	68					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTCCTTTCGTAATCTGCA	0.423																																					p.R68Q		Atlas-SNP	.											.	SF3A3	37	.	0			c.G203A						.	C	GLN/ARG	0,4406		0,0,2203	104.0	105.0	105.0		203	5.6	1.0	1		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	SF3A3	NM_006802.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	68/502	38453345	1,13005	2203	4300	6503	SO:0001583	missense	10946	exon4			TCCTTTCGTAATC	U08815	CCDS428.1	1p34.3	2012-06-07	2002-08-29		ENSG00000183431	ENSG00000183431			10767	protein-coding gene	gene with protein product		605596	"""splicing factor 3a, subunit 3, 60kD"""			7816610, 8022796	Standard	NM_006802		Approved	SF3a60, SAP61, PRP9, PRPF9	uc001cci.3	Q12874	OTTHUMG00000004438	ENST00000373019.4:c.203G>A	chr1.hg19:g.38453345C>T	ENSP00000362110:p.Arg68Gln	80.0	0.0		162.0	11.0	NM_006802	D3DPT5|Q15460|Q5VT87	Missense_Mutation	SNP	ENST00000373019.4	hg19	CCDS428.1	.	.	.	.	.	.	.	.	.	.	C	36	5.708777	0.96821	0.0	1.16E-4	ENSG00000183431	ENST00000373019	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.86351	0.5912	M	0.92604	3.325	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.88495	0.3078	9	0.56958	D	0.05	-7.9523	19.6316	0.95708	0.0:1.0:0.0:0.0	.	68	Q12874	SF3A3_HUMAN	Q	68	.	ENSP00000362110:R68Q	R	-	2	0	SF3A3	38225932	1.000000	0.71417	0.995000	0.50966	0.936000	0.57629	7.684000	0.84104	2.642000	0.89623	0.557000	0.71058	CGA	.	.		0.423	SF3A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012976.1	NM_006802	
OSBPL9	114883	hgsc.bcm.edu	37	1	52254983	52254983	+	IGR	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:52254983A>G	ENST00000428468.1	+	0	2893				NRD1_ENST00000352171.7_Silent_p.C1127C|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000354831.7_Silent_p.C1195C|NRD1_ENST00000539524.1_Silent_p.C1063C			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9						lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGGGATGATACAATCTGCCA	0.448																																					p.C1195C		Atlas-SNP	.											.	NRD1	89	.	0			c.T3585C						.						161.0	147.0	152.0					1																	52254983		2203	4300	6503	SO:0001628	intergenic_variant	4898	exon33			GATGATACAATCT	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234		chr1.hg19:g.52254983A>G		77.0	0.0		143.0	48.0	NM_002525	B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	hg19	CCDS41332.3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.020|6.020	0.372102|0.372102	0.11409|0.11409	.|.	.|.	ENSG00000078618|ENSG00000078618	ENST00000546169|ENST00000440943	.|.	.|.	.|.	5.75|5.75	-4.65|-4.65	0.03339|0.03339	.|.	.|.	.|.	.|.	.|.	T|T	0.20536|0.20536	0.0494|0.0494	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999995|0.999995	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.30909|0.30909	-0.9962|-0.9962	5|4	0.05620|.	T|.	0.96|.	-1.2614|-1.2614	4.5853|4.5853	0.12279|0.12279	0.3672:0.1033:0.4277:0.1019|0.3672:0.1033:0.4277:0.1019	.|.	.|.	.|.	.|.	A|H	1127|514	.|.	ENSP00000437424:V1127A|.	V|Y	-|-	2|1	0|0	NRD1|NRD1	52027571|52027571	0.000000|0.000000	0.05858|0.05858	0.047000|0.047000	0.18901|0.18901	0.859000|0.859000	0.49053|0.49053	-2.449000|-2.449000	0.01008|0.01008	-0.751000|-0.751000	0.04734|0.04734	-0.263000|-0.263000	0.10527|0.10527	GTA|TAT	.	.		0.448	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4		
PDE4B	5142	hgsc.bcm.edu	37	1	66723358	66723358	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:66723358T>G	ENST00000329654.4	+	5	692	c.505T>G	c.(505-507)Ttt>Gtt	p.F169V	PDE4B_ENST00000423207.2_Missense_Mutation_p.F154V|PDE4B_ENST00000371049.3_Missense_Mutation_p.F169V|PDE4B_ENST00000371048.3_3'UTR	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	169					cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	TGTAACTCCTTTTGCCCAGGT	0.383																																					p.F169V		Atlas-SNP	.											.	PDE4B	231	.	0			c.T505G						.						262.0	254.0	257.0					1																	66723358		2203	4300	6503	SO:0001583	missense	5142	exon5			ACTCCTTTTGCCC	L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.505T>G	chr1.hg19:g.66723358T>G	ENSP00000332116:p.Phe169Val	117.0	0.0		261.0	23.0	NM_001037341	A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	ENST00000329654.4	hg19	CCDS632.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.7|23.7	4.447079|4.447079	0.84101|0.84101	.|.	.|.	ENSG00000184588|ENSG00000184588	ENST00000491340|ENST00000329654;ENST00000341517;ENST00000371049;ENST00000423207;ENST00000412480	.|T;T;T;T;D	.|0.87491	.|-1.42;-1.42;-1.42;-1.43;-2.26	5.07|5.07	5.07|5.07	0.68467|0.68467	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	D|D	0.89876|0.89876	0.6842|0.6842	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.48230	.|0.907;0.85;0.85	.|P;P;P	.|0.55055	.|0.767;0.589;0.589	D|D	0.91466|0.91466	0.5193|0.5193	6|10	.|0.87932	.|D	.|0	.|.	14.4679|14.4679	0.67497|0.67497	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|154;159;169	.|Q07343-3;Q59GM8;Q07343	.|.;.;PDE4B_HUMAN	C|V	10|169;169;169;154;77	.|ENSP00000332116:F169V;ENSP00000342637:F169V;ENSP00000360088:F169V;ENSP00000392947:F154V;ENSP00000397548:F77V	.|ENSP00000332116:F169V	F|F	+|+	2|1	0|0	PDE4B|PDE4B	66495946|66495946	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	7.093000|7.093000	0.76937|0.76937	2.251000|2.251000	0.74343|0.74343	0.528000|0.528000	0.53228|0.53228	TTT|TTT	.	.		0.383	PDE4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000025188.3	NM_002600	
FPGT	8790	hgsc.bcm.edu	37	1	74671212	74671212	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:74671212G>T	ENST00000609362.1	+	4	1518	c.1481G>T	c.(1480-1482)gGa>gTa	p.G494V	FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000534056.1_Missense_Mutation_p.G240V|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_3'UTR|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.G507V	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	494					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						CAATTCTTTGGAGTCTGTTTC	0.368																																					p.G494V		Atlas-SNP	.											.	FPGT	77	.	0			c.G1481T						.						102.0	95.0	97.0					1																	74671212		2203	4300	6503	SO:0001583	missense	8790	exon4			TCTTTGGAGTCTG	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1481G>T	chr1.hg19:g.74671212G>T	ENSP00000476680:p.Gly494Val	79.0	0.0		181.0	10.0	NM_003838	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	ENST00000609362.1	hg19	CCDS663.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276437	0.59649	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.45668	0.89;0.89	5.1	5.1	0.69264	L-fucokinase (1);	.	.	.	.	T	0.61123	0.2322	M	0.77616	2.38	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	T	0.65294	-0.6203	9	0.56958	D	0.05	.	18.5201	0.90948	0.0:0.0:1.0:0.0	.	240;119;494	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	V	494;240	ENSP00000359935:G494V;ENSP00000432819:G240V	ENSP00000359935:G494V	G	+	2	0	TNNI3K	74443800	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.434000	0.97515	2.351000	0.79841	0.563000	0.77884	GGA	.	.		0.368	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
STXBP3	6814	hgsc.bcm.edu	37	1	109339272	109339272	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:109339272T>A	ENST00000370008.3	+	15	1330	c.1280T>A	c.(1279-1281)aTc>aAc	p.I427N		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	427					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		GACAGGTTGATCCAGAATGTA	0.358																																					p.I427N		Atlas-SNP	.											.	STXBP3	44	.	0			c.T1280A						.						137.0	134.0	135.0					1																	109339272		2203	4300	6503	SO:0001583	missense	6814	exon15			GGTTGATCCAGAA	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1280T>A	chr1.hg19:g.109339272T>A	ENSP00000359025:p.Ile427Asn	76.0	0.0		203.0	9.0	NM_007269	A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Missense_Mutation	SNP	ENST00000370008.3	hg19	CCDS790.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.422713	0.83559	.	.	ENSG00000116266	ENST00000370008	T	0.79141	-1.24	5.44	5.44	0.79542	.	0.149746	0.64402	D	0.000017	T	0.77758	0.4178	M	0.78049	2.395	0.58432	D	0.999996	B	0.27765	0.188	B	0.40101	0.319	T	0.80462	-0.1372	10	0.72032	D	0.01	-1.0014	15.4851	0.75560	0.0:0.0:0.0:1.0	.	427	O00186	STXB3_HUMAN	N	427	ENSP00000359025:I427N	ENSP00000359025:I427N	I	+	2	0	STXBP3	109140795	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.999000	0.76283	2.060000	0.61445	0.383000	0.25322	ATC	.	.		0.358	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269	
ATP1A1	476	hgsc.bcm.edu	37	1	116933025	116933025	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:116933025A>C	ENST00000295598.5	+	9	1466	c.1214A>C	c.(1213-1215)aAt>aCt	p.N405T	ATP1A1_ENST00000369496.4_Missense_Mutation_p.N374T|ATP1A1_ENST00000537345.1_Missense_Mutation_p.N405T	NM_000701.7	NP_000692.2	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	405					ATP biosynthetic process (GO:0006754)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|membrane hyperpolarization (GO:0060081)|membrane repolarization (GO:0086009)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of glucocorticoid biosynthetic process (GO:0031947)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart contraction (GO:0045823)|positive regulation of striated muscle contraction (GO:0045989)|potassium ion import (GO:0010107)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of sodium ion transport (GO:0002028)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|sodium:potassium-exchanging ATPase complex (GO:0005890)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|chaperone binding (GO:0051087)|phosphatase activity (GO:0016791)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Ciclopirox(DB01188)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Ethacrynic acid(DB00903)|Hydroflumethiazide(DB00774)|Ouabain(DB01092)|Trichlormethiazide(DB01021)	ACGACAGAGAATCAGAGTGGT	0.423																																					p.N405T		Atlas-SNP	.											.	ATP1A1	87	.	0			c.A1214C						.						59.0	58.0	58.0					1																	116933025		2203	4300	6503	SO:0001583	missense	476	exon9			CAGAGAATCAGAG	D00099	CCDS887.1, CCDS53351.1, CCDS53352.1	1p13	2012-10-22			ENSG00000163399	ENSG00000163399	3.6.3.9	"""ATPases / P-type"""	799	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-1"", ""sodium pump subunit alpha-1"", ""sodium-potassium ATPase catalytic subunit alpha-1"""	182310					Standard	NM_000701		Approved		uc001ege.3	P05023	OTTHUMG00000012109	ENST00000295598.5:c.1214A>C	chr1.hg19:g.116933025A>C	ENSP00000295598:p.Asn405Thr	70.0	0.0		229.0	25.0	NM_001160233	B2RBR6|B7Z2T5|B7Z3U6|F5H3A1|Q16689|Q6LDM4|Q9UCN1|Q9UJ20|Q9UJ21	Missense_Mutation	SNP	ENST00000295598.5	hg19	CCDS887.1	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622723	0.66787	.	.	ENSG00000163399	ENST00000295598;ENST00000537345;ENST00000339159;ENST00000369496	T;T;T	0.78816	-1.21;-1.21;-1.21	4.87	4.87	0.63330	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	T	0.59252	0.2180	N	0.20881	0.62	0.80722	D	1	B;B	0.14805	0.009;0.011	B;B	0.33960	0.108;0.173	T	0.61753	-0.6998	10	0.45353	T	0.12	.	14.6423	0.68734	1.0:0.0:0.0:0.0	.	405;405	F5H3A1;P05023	.;AT1A1_HUMAN	T	405;405;404;374	ENSP00000295598:N405T;ENSP00000445306:N405T;ENSP00000358508:N374T	ENSP00000295598:N405T	N	+	2	0	ATP1A1	116734548	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.126000	0.94411	2.068000	0.61886	0.528000	0.53228	AAT	.	.		0.423	ATP1A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000033481.5	NM_001160233	
NBPF10	100132406	hgsc.bcm.edu	37	1	145367800	145367800	+	Missense_Mutation	SNP	G	G	A	rs201525063		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:145367800G>A	ENST00000342960.5	+	83	10431	c.10396G>A	c.(10396-10398)Gat>Aat	p.D3466N	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	761						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.D3466N(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aggggaagaagaTCAAAACCC	0.428																																					p.D3466N		Atlas-SNP	.											NBPF10,rectum,carcinoma,0,2	NBPF10	221	.	1	Substitution - Missense(1)	endometrium(1)	c.G10396A						.																																			SO:0001583	missense	100132406	exon83			GAAGAAGATCAAA	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10396G>A	chr1.hg19:g.145367800G>A	ENSP00000345684:p.Asp3466Asn	1.0	0.0		3.0	2.0	NM_001039703	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	hg19	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	9.745	1.165911	0.21538	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.09723	2.95	.	.	.	.	.	.	.	.	T	0.11067	0.0270	M	0.85197	2.74	0.09310	N	1	.	.	.	.	.	.	T	0.11891	-1.0569	5	0.59425	D	0.04	.	.	.	.	.	.	.	.	N	586;3466	ENSP00000345684:D3466N	ENSP00000345684:D3466N	D	+	1	0	NBPF10	144079157	0.020000	0.18652	0.199000	0.23439	0.199000	0.23934	0.885000	0.28227	0.162000	0.19483	0.165000	0.16767	GAT	.	.		0.428	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703	
HIST2H2AC	8338	hgsc.bcm.edu	37	1	149858545	149858545	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:149858545A>T	ENST00000331380.2	+	1	21	c.21A>T	c.(19-21)caA>caT	p.Q7H	HIST2H2BE_ENST00000369155.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	7						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GTGGCAAACAAGGAGGCAAGG	0.562																																					p.Q7H		Atlas-SNP	.											.	HIST2H2AC	75	.	0			c.A21T						.						82.0	90.0	87.0					1																	149858545		2203	4300	6503	SO:0001583	missense	8338	exon1			CAAACAAGGAGGC	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.21A>T	chr1.hg19:g.149858545A>T	ENSP00000332194:p.Gln7His	53.0	0.0		191.0	49.0	NM_003517	Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	hg19	CCDS937.1	.	.	.	.	.	.	.	.	.	.	A	10.54	1.377615	0.24944	.	.	ENSG00000184260	ENST00000331380	T	0.42900	0.96	5.81	-7.0	0.01599	Histone-fold (2);Histone H2A (1);	0.000000	0.42548	D	0.000696	T	0.10809	0.0264	N	0.17474	0.49	0.31702	N	0.640667	B	0.23937	0.094	B	0.20384	0.029	T	0.01484	-1.1343	10	0.66056	D	0.02	.	16.9467	0.86232	0.3794:0.0:0.6206:0.0	.	7	Q16777	H2A2C_HUMAN	H	7	ENSP00000332194:Q7H	ENSP00000332194:Q7H	Q	+	3	2	HIST2H2AC	148125169	0.001000	0.12720	0.253000	0.24343	0.817000	0.46193	-1.370000	0.02575	-1.576000	0.01652	-0.408000	0.06270	CAA	.	.		0.562	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517	
CGN	57530	hgsc.bcm.edu	37	1	151499552	151499552	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:151499552G>T	ENST00000271636.7	+	10	1998	c.1865G>T	c.(1864-1866)gGa>gTa	p.G622V	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	616	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCTAGTGCTGGAGATACTCGC	0.542																																					p.G622V		Atlas-SNP	.											.	CGN	106	.	0			c.G1865T						.						117.0	107.0	111.0					1																	151499552		2203	4300	6503	SO:0001583	missense	57530	exon10			GTGCTGGAGATAC	AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1865G>T	chr1.hg19:g.151499552G>T	ENSP00000271636:p.Gly622Val	68.0	0.0		315.0	29.0	NM_020770	A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	ENST00000271636.7	hg19	CCDS999.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.309784	0.23821	.	.	ENSG00000143375	ENST00000271636	T	0.62364	0.03	5.54	3.27	0.37495	.	0.748757	0.13601	N	0.375871	T	0.24431	0.0592	N	0.25647	0.755	0.27275	N	0.958263	B	0.10296	0.003	B	0.09377	0.004	T	0.07986	-1.0744	10	0.31617	T	0.26	-1.8441	5.9002	0.18962	0.1227:0.4023:0.4749:0.0	.	616	Q9P2M7	CING_HUMAN	V	622	ENSP00000271636:G622V	ENSP00000271636:G622V	G	+	2	0	CGN	149766176	0.766000	0.28496	0.614000	0.29051	0.983000	0.72400	0.482000	0.22276	1.457000	0.47850	0.650000	0.86243	GGA	.	.		0.542	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034900.3	NM_020770	
C1orf68	100129271	hgsc.bcm.edu	37	1	152692324	152692324	+	Silent	SNP	C	C	T	rs201318627		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:152692324C>T	ENST00000368775.2	+	1	327	c.327C>T	c.(325-327)taC>taT	p.Y109Y		NM_001024679.2	NP_001019850.1	Q5T750	XP32_HUMAN	chromosome 1 open reading frame 68	109	Cys-rich.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)				NS(1)|breast(1)|lung(2)|prostate(1)|stomach(3)	8						GCCAAACCTACGTGAAGTGCC	0.547																																					p.Y109Y		Atlas-SNP	.											.	C1orf68	19	.	0			c.C327T						.						214.0	213.0	213.0					1																	152692324		692	1591	2283	SO:0001819	synonymous_variant	100129271	exon1			AACCTACGTGAAG	AF005081	CCDS44226.1	1q21.3	2014-05-30			ENSG00000198854	ENSG00000198854			29468	protein-coding gene	gene with protein product						11698679	Standard	NM_001024679		Approved	LEP7	uc010pdu.2	Q5T750	OTTHUMG00000012401	ENST00000368775.2:c.327C>T	chr1.hg19:g.152692324C>T		94.0	0.0		399.0	46.0	NM_001024679	O14634	Silent	SNP	ENST00000368775.2	hg19	CCDS44226.1																																																																																			.	C|0.999;T|0.001		0.547	C1orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034521.2	NM_001024679	
PGLYRP4	57115	hgsc.bcm.edu	37	1	153314164	153314164	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:153314164C>A	ENST00000359650.5	-	6	628	c.564G>T	c.(562-564)caG>caT	p.Q188H	PGLYRP4_ENST00000368739.3_Missense_Mutation_p.Q184H	NM_020393.2	NP_065126.2	Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	188					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAGAAGTGGCTGAACATAAC	0.572																																					p.Q188H		Atlas-SNP	.											.	PGLYRP4	45	.	0			c.G564T						.						122.0	116.0	118.0					1																	153314164		2203	4300	6503	SO:0001583	missense	57115	exon6			AAGTGGCTGAACA	AF242518	CCDS30871.1	1q21	2008-02-05			ENSG00000163218	ENSG00000163218			30015	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein I beta precursor"""	608198				11461926	Standard	XR_241090		Approved	SBBI67, PGRPIB, PGLYRPIbeta, PGRP-Ibeta	uc001fbo.3	Q96LB8	OTTHUMG00000037057	ENST00000359650.5:c.564G>T	chr1.hg19:g.153314164C>A	ENSP00000352672:p.Gln188His	44.0	0.0		180.0	21.0	NM_020393	A8K838|Q3B822|Q3B823|Q5SY63|Q5SY64|Q9HD75	Missense_Mutation	SNP	ENST00000359650.5	hg19	CCDS30871.1	.	.	.	.	.	.	.	.	.	.	C	11.27	1.588345	0.28357	.	.	ENSG00000163218	ENST00000368739;ENST00000359650	T;T	0.05319	3.46;3.46	4.2	1.05	0.20165	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.44483	D	0.000451	T	0.09774	0.0240	M	0.76838	2.35	0.27729	N	0.944877	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.03981	-1.0987	10	0.62326	D	0.03	-42.2259	5.3818	0.16196	0.0:0.6116:0.0:0.3884	.	184;188	Q96LB8-2;Q96LB8	.;PGRP4_HUMAN	H	184;188	ENSP00000357728:Q184H;ENSP00000352672:Q188H	ENSP00000352672:Q188H	Q	-	3	2	PGLYRP4	151580788	1.000000	0.71417	0.985000	0.45067	0.031000	0.12232	0.559000	0.23485	0.421000	0.25980	-0.194000	0.12790	CAG	.	.		0.572	PGLYRP4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000089978.1	NM_020393	
ZBTB7B	51043	hgsc.bcm.edu	37	1	154988092	154988092	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:154988092G>A	ENST00000368426.3	+	3	1093	c.956G>A	c.(955-957)aGc>aAc	p.S319N	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S319N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S353N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S319N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	319					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTACCTAAGCTCCCTGCAC	0.657																																					p.S353N		Atlas-SNP	.											.	ZBTB7B	69	.	0			c.G1058A						.						44.0	43.0	43.0					1																	154988092		2203	4300	6503	SO:0001583	missense	51043	exon4			ACCTAAGCTCCCT	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.956G>A	chr1.hg19:g.154988092G>A	ENSP00000357411:p.Ser319Asn	38.0	0.0		267.0	14.0	NM_001252406	B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	hg19	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	g	14.18	2.459273	0.43634	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.10477	2.89;2.89;2.87;2.89	4.08	4.08	0.47627	.	0.187911	0.30969	N	0.008506	T	0.02119	0.0066	N	0.14661	0.345	0.28989	N	0.888149	B;B;B	0.21225	0.053;0.053;0.053	B;B;B	0.17722	0.019;0.01;0.019	T	0.38286	-0.9668	10	0.44086	T	0.13	.	7.6015	0.28079	0.115:0.0:0.885:0.0	.	319;319;353	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	N	319;319;353;319	ENSP00000438647:S319N;ENSP00000357411:S319N;ENSP00000406286:S353N;ENSP00000292176:S319N	ENSP00000292176:S319N	S	+	2	0	ZBTB7B	153254716	0.953000	0.32496	0.988000	0.46212	0.972000	0.66771	2.260000	0.43267	2.109000	0.64355	0.462000	0.41574	AGC	.	.		0.657	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872	
ARHGEF11	9826	hgsc.bcm.edu	37	1	156939122	156939122	+	Silent	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:156939122C>A	ENST00000361409.2	-	9	1399	c.657G>T	c.(655-657)ggG>ggT	p.G219G	ARHGEF11_ENST00000368194.3_Silent_p.G259G	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	219					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGCCACTGTCCCCCTCCTGGG	0.552																																					p.G259G		Atlas-SNP	.											.	ARHGEF11	168	.	0			c.G777T						.						37.0	32.0	34.0					1																	156939122		2202	4299	6501	SO:0001819	synonymous_variant	9826	exon10			ACTGTCCCCCTCC	AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.657G>T	chr1.hg19:g.156939122C>A		30.0	0.0		138.0	69.0	NM_198236	D3DVD0|Q5VY40|Q6PFW2	Silent	SNP	ENST00000361409.2	hg19	CCDS1162.1																																																																																			.	.		0.552	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098931.1	NM_198236	
SPTA1	6708	hgsc.bcm.edu	37	1	158605719	158605719	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:158605719C>G	ENST00000368147.4	-	38	5596	c.5416G>C	c.(5416-5418)Gag>Cag	p.E1806Q		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1806					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGGCCAACTCTTTGAGCTTC	0.537																																					p.E1806Q		Atlas-SNP	.											.	SPTA1	720	.	0			c.G5416C						.						90.0	93.0	92.0					1																	158605719		1942	4139	6081	SO:0001583	missense	6708	exon38			CCAACTCTTTGAG	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5416G>C	chr1.hg19:g.158605719C>G	ENSP00000357129:p.Glu1806Gln	49.0	0.0		214.0	9.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.09	1.536202	0.27475	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	5.65	3.8	0.43715	.	0.266274	0.19779	N	0.106267	T	0.19765	0.0475	L	0.59967	1.855	0.32110	N	0.589433	B	0.30973	0.302	B	0.30401	0.115	T	0.09228	-1.0684	10	0.12766	T	0.61	.	7.8794	0.29614	0.0:0.7181:0.1338:0.1481	.	1806	P02549	SPTA1_HUMAN	Q	1806	ENSP00000357130:E1806Q;ENSP00000357129:E1806Q	ENSP00000357129:E1806Q	E	-	1	0	SPTA1	156872343	0.998000	0.40836	0.998000	0.56505	0.993000	0.82548	3.002000	0.49496	0.944000	0.37579	0.655000	0.94253	GAG	.	.		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	hgsc.bcm.edu	37	1	158651408	158651408	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:158651408G>A	ENST00000368147.4	-	4	620	c.440C>T	c.(439-441)aCc>aTc	p.T147I		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	147					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTCCAGGGTCAGCTCTAA	0.547																																					p.T147I		Atlas-SNP	.											.	SPTA1	720	.	0			c.C440T						.						132.0	135.0	134.0					1																	158651408		2011	4166	6177	SO:0001583	missense	6708	exon4			TCCAGGGTCAGCT	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.440C>T	chr1.hg19:g.158651408G>A	ENSP00000357129:p.Thr147Ile	80.0	0.0		344.0	138.0	NM_003126	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	hg19	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	9.380	1.072843	0.20147	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	0.8;0.8	5.15	3.25	0.37280	.	.	.	.	.	T	0.24470	0.0593	M	0.65677	2.01	0.35854	D	0.826973	B	0.10296	0.003	B	0.18561	0.022	T	0.06881	-1.0802	9	0.23302	T	0.38	.	6.9641	0.24613	0.3221:0.0:0.6779:0.0	.	147	P02549	SPTA1_HUMAN	I	147	ENSP00000357130:T147I;ENSP00000357129:T147I	ENSP00000357129:T147I	T	-	2	0	SPTA1	156918032	0.999000	0.42202	0.960000	0.40013	0.347000	0.29111	3.240000	0.51368	1.401000	0.46761	0.563000	0.77884	ACC	.	.		0.547	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
DUSP27	92235	hgsc.bcm.edu	37	1	167086745	167086745	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:167086745C>T	ENST00000361200.2	+	4	552	c.386C>T	c.(385-387)gCg>gTg	p.A129V	DUSP27_ENST00000271385.5_Missense_Mutation_p.A129V|DUSP27_ENST00000443333.1_Missense_Mutation_p.A129V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	129					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGCCAAGAGGCGCCCTGGAAT	0.547																																					p.A129V		Atlas-SNP	.											DUSP27,NS,carcinoma,0,1	DUSP27	235	.	0			c.C386T						.						79.0	66.0	70.0					1																	167086745		2203	4300	6503	SO:0001583	missense	92235	exon3			AAGAGGCGCCCTG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.386C>T	chr1.hg19:g.167086745C>T	ENSP00000354483:p.Ala129Val	53.0	0.0		226.0	34.0	NM_001080426	A0AUM4|Q9C074	Missense_Mutation	SNP	ENST00000361200.2	hg19	CCDS30932.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.561321	0.45590	.	.	ENSG00000198842	ENST00000361200;ENST00000271385;ENST00000443333	T;T;T	0.59906	0.23;0.23;0.23	4.93	4.02	0.46733	.	0.464667	0.22997	N	0.053138	T	0.28333	0.0700	L	0.32530	0.975	0.38538	D	0.949141	P	0.42161	0.772	B	0.32583	0.148	T	0.30238	-0.9985	10	0.66056	D	0.02	-8.4801	13.1155	0.59297	0.0:0.9231:0.0:0.0769	.	129	Q5VZP5	DUS27_HUMAN	V	129	ENSP00000354483:A129V;ENSP00000271385:A129V;ENSP00000404874:A129V	ENSP00000271385:A129V	A	+	2	0	DUSP27	165353369	1.000000	0.71417	0.568000	0.28447	0.164000	0.22412	5.622000	0.67750	1.297000	0.44761	0.655000	0.94253	GCG	.	.		0.547	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426	
RFWD2	64326	hgsc.bcm.edu	37	1	175956209	175956209	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:175956209T>C	ENST00000367669.3	-	18	2517	c.2003A>G	c.(2002-2004)tAt>tGt	p.Y668C	RFWD2_ENST00000308769.8_Missense_Mutation_p.Y644C	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	668					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AAGTCCTTTATAGTACAGGTA	0.299																																					p.Y668C	Ovarian(134;1413 1765 5706 35534 51541)	Atlas-SNP	.											.	RFWD2	67	.	0			c.A2003G						.						59.0	59.0	59.0					1																	175956209		2203	4300	6503	SO:0001583	missense	64326	exon18			CCTTTATAGTACA	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.2003A>G	chr1.hg19:g.175956209T>C	ENSP00000356641:p.Tyr668Cys	56.0	0.0		300.0	15.0	NM_022457	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Missense_Mutation	SNP	ENST00000367669.3	hg19	CCDS30944.1	.	.	.	.	.	.	.	.	.	.	T	15.88	2.962913	0.53507	.	.	ENSG00000143207	ENST00000367665;ENST00000367669;ENST00000367666;ENST00000308769	T;T;T	0.70399	-0.48;-0.48;-0.48	5.64	5.64	0.86602	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	D	0.85969	0.5821	M	0.87269	2.87	0.80722	D	1	B;D;B;D;D	0.76494	0.067;0.98;0.169;0.999;0.98	B;D;B;D;D	0.77557	0.114;0.941;0.091;0.99;0.941	D	0.88357	0.2985	10	0.72032	D	0.01	-15.7895	15.8017	0.78456	0.0:0.0:0.0:1.0	.	443;428;644;668;668	Q8NHY2-3;B1AMD2;Q8NHY2-2;Q8NHY2;Q504W6	.;.;.;RFWD2_HUMAN;.	C	443;668;503;644	ENSP00000356641:Y668C;ENSP00000356638:Y503C;ENSP00000310943:Y644C	ENSP00000310943:Y644C	Y	-	2	0	RFWD2	174222832	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.268000	0.78473	2.261000	0.74972	0.533000	0.62120	TAT	.	.		0.299	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2	NM_022457	
TDRD5	163589	hgsc.bcm.edu	37	1	179561759	179561759	+	Silent	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:179561759A>G	ENST00000367614.1	+	2	368	c.9A>G	c.(7-9)gaA>gaG	p.E3E	TDRD5_ENST00000294848.8_Silent_p.E3E|RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000444136.1_Silent_p.E3E	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	3					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CAATGTCTGAACAAGAGCGTA	0.443																																					p.E3E		Atlas-SNP	.											.	TDRD5	149	.	0			c.A9G						.						125.0	121.0	122.0					1																	179561759		2203	4300	6503	SO:0001819	synonymous_variant	163589	exon2			GTCTGAACAAGAG	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.9A>G	chr1.hg19:g.179561759A>G		29.0	0.0		102.0	41.0	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	ENST00000367614.1	hg19	CCDS1332.1																																																																																			.	.		0.443	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
TDRD5	163589	hgsc.bcm.edu	37	1	179603595	179603595	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:179603595A>T	ENST00000367614.1	+	8	1489	c.1130A>T	c.(1129-1131)cAg>cTg	p.Q377L	TDRD5_ENST00000294848.8_Missense_Mutation_p.Q377L|TDRD5_ENST00000444136.1_Missense_Mutation_p.Q377L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	377					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TGTTTAGTTCAGTCAGATAAG	0.383																																					p.Q377L		Atlas-SNP	.											.	TDRD5	149	.	0			c.A1130T						.						101.0	101.0	101.0					1																	179603595		2203	4300	6503	SO:0001583	missense	163589	exon8			TAGTTCAGTCAGA	AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1130A>T	chr1.hg19:g.179603595A>T	ENSP00000356586:p.Gln377Leu	74.0	0.0		324.0	16.0	NM_173533	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	ENST00000367614.1	hg19	CCDS1332.1	.	.	.	.	.	.	.	.	.	.	A	9.612	1.131531	0.21041	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136	T;T;T	0.12774	2.65;2.65;2.83	5.24	2.72	0.32119	.	0.626135	0.16158	N	0.226908	T	0.12689	0.0308	L	0.54323	1.7	0.29136	N	0.879299	B;B	0.12013	0.005;0.002	B;B	0.09377	0.004;0.002	T	0.12344	-1.0551	10	0.27785	T	0.31	-2.8607	8.2597	0.31777	0.687:0.0:0.0:0.313	.	377;377	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	L	377	ENSP00000356586:Q377L;ENSP00000294848:Q377L;ENSP00000406052:Q377L	ENSP00000294848:Q377L	Q	+	2	0	TDRD5	177870218	0.997000	0.39634	0.996000	0.52242	0.864000	0.49448	1.718000	0.38001	0.910000	0.36722	0.533000	0.62120	CAG	.	.		0.383	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
CACNA1E	777	hgsc.bcm.edu	37	1	181548355	181548355	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:181548355A>T	ENST00000367573.2	+	5	764	c.764A>T	c.(763-765)aAt>aTt	p.N255I	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000358338.5_Missense_Mutation_p.N206I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.N206I|CACNA1E_ENST00000526775.1_Missense_Mutation_p.N255I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.N255I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.N255I	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	255					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTCATGAACAATTCAGGTAGG	0.453																																					p.N255I		Atlas-SNP	.											.	CACNA1E	778	.	0			c.A764T						.						303.0	277.0	285.0					1																	181548355		1934	4151	6085	SO:0001583	missense	777	exon5			TGAACAATTCAGG	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.764A>T	chr1.hg19:g.181548355A>T	ENSP00000356545:p.Asn255Ile	127.0	0.0		400.0	16.0	NM_001205293	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	hg19	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	A	14.55	2.570357	0.45798	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97430	-4.38;-4.0;-3.99;-4.01;-3.99;-3.99;-4.0	4.88	4.88	0.63580	.	11.845600	0.00166	N	0.000006	D	0.95370	0.8497	L	0.33245	0.995	0.80722	D	1	B;B	0.14012	0.009;0.009	B;B	0.15484	0.013;0.013	T	0.72626	-0.4236	10	0.33141	T	0.24	.	14.4515	0.67389	1.0:0.0:0.0:0.0	.	255;255	Q15878-2;Q15878-3	.;.	I	255;255;255;206;206;255;255	ENSP00000432038:N255I;ENSP00000356542:N255I;ENSP00000434814:N255I;ENSP00000350183:N206I;ENSP00000351101:N206I;ENSP00000353222:N255I;ENSP00000356545:N255I	ENSP00000350183:N206I	N	+	2	0	CACNA1E	179814978	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.016000	0.49607	1.951000	0.56629	0.459000	0.35465	AAT	.	.		0.453	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
DHX9	1660	hgsc.bcm.edu	37	1	182823304	182823304	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:182823304A>G	ENST00000367549.3	+	6	727	c.617A>G	c.(616-618)gAt>gGt	p.D206G		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	206	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.|Interaction with CREBBP.				ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTGGGTCCTGATCACAACAGG	0.363																																					p.D206G	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.A617G						.						72.0	71.0	71.0					1																	182823304		1845	4085	5930	SO:0001583	missense	1660	exon6			GTCCTGATCACAA	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.617A>G	chr1.hg19:g.182823304A>G	ENSP00000356520:p.Asp206Gly	83.0	0.0		367.0	16.0	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.703563	0.88924	.	.	ENSG00000135829	ENST00000399175;ENST00000367549	T	0.77098	-1.07	5.39	5.39	0.77823	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.90215	0.6941	M	0.92219	3.285	0.80722	D	1	P	0.46952	0.887	D	0.64042	0.921	D	0.92387	0.5918	10	0.87932	D	0	.	15.0812	0.72117	1.0:0.0:0.0:0.0	.	206	Q08211	DHX9_HUMAN	G	206	ENSP00000356520:D206G	ENSP00000356520:D206G	D	+	2	0	DHX9	181089927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.661000	0.91125	2.045000	0.60652	0.533000	0.62120	GAT	.	.		0.363	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
DHX9	1660	hgsc.bcm.edu	37	1	182852382	182852382	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:182852382A>T	ENST00000367549.3	+	25	3133	c.3023A>T	c.(3022-3024)gAa>gTa	p.E1008V	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1008					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						TATCATAAGGAAAAGAGGAAG	0.413																																					p.E1008V	Colon(69;210 1162 3697 13559 39565)	Atlas-SNP	.											.	DHX9	114	.	0			c.A3023T						.						155.0	132.0	139.0					1																	182852382		1900	4120	6020	SO:0001583	missense	1660	exon25			ATAAGGAAAAGAG	L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.3023A>T	chr1.hg19:g.182852382A>T	ENSP00000356520:p.Glu1008Val	103.0	0.0		348.0	17.0	NM_001357	B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	ENST00000367549.3	hg19	CCDS41444.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.848970	0.91277	.	.	ENSG00000135829	ENST00000367549	T	0.04275	3.66	5.39	5.39	0.77823	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.18964	0.0455	M	0.85197	2.74	0.80722	D	1	P;P	0.47604	0.898;0.885	P;P	0.53722	0.733;0.665	T	0.00728	-1.1591	10	0.48119	T	0.1	.	15.4176	0.74983	1.0:0.0:0.0:0.0	.	287;1008	B3KU66;Q08211	.;DHX9_HUMAN	V	1008	ENSP00000356520:E1008V	ENSP00000356520:E1008V	E	+	2	0	DHX9	181119005	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.699000	0.91316	2.027000	0.59764	0.533000	0.62120	GAA	.	.		0.413	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085522.2	NM_030588	
HMCN1	83872	hgsc.bcm.edu	37	1	186007150	186007150	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:186007150C>A	ENST00000271588.4	+	37	6063	c.5834C>A	c.(5833-5835)gCt>gAt	p.A1945D	HMCN1_ENST00000367492.2_Missense_Mutation_p.A1945D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1945	Ig-like C2-type 17.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTAAGGCAGCTGGAAATCCT	0.398																																					p.A1945D		Atlas-SNP	.											.	HMCN1	797	.	0			c.C5834A						.						140.0	134.0	136.0					1																	186007150		2203	4300	6503	SO:0001583	missense	83872	exon37			AGGCAGCTGGAAA	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5834C>A	chr1.hg19:g.186007150C>A	ENSP00000271588:p.Ala1945Asp	76.0	0.0		244.0	99.0	NM_031935	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	hg19	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	C	11.20	1.568365	0.28003	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.406062	0.28192	N	0.016246	T	0.52175	0.1718	N	0.03238	-0.38	0.29889	N	0.825357	P	0.49253	0.921	P	0.51193	0.662	T	0.52396	-0.8581	10	0.24483	T	0.36	.	13.7184	0.62712	0.0:0.9241:0.0:0.0758	.	1945	Q96RW7	HMCN1_HUMAN	D	1945	ENSP00000271588:A1945D;ENSP00000356462:A1945D	ENSP00000271588:A1945D	A	+	2	0	HMCN1	184273773	0.224000	0.23674	0.372000	0.25991	0.191000	0.23601	2.161000	0.42358	2.597000	0.87782	0.555000	0.69702	GCT	.	.		0.398	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
KIF21B	23046	hgsc.bcm.edu	37	1	200946358	200946358	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:200946358C>A	ENST00000422435.2	-	31	4623	c.4307G>T	c.(4306-4308)cGc>cTc	p.R1436L	KIF21B_ENST00000332129.2_Missense_Mutation_p.R1423L|KIF21B_ENST00000360529.5_Missense_Mutation_p.R1423L|KIF21B_ENST00000461742.2_Missense_Mutation_p.R1436L	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1436					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CTCCCAGATGCGGACGGCATT	0.642																																					p.R1436L		Atlas-SNP	.											KIF21B,NS,carcinoma,0,1	KIF21B	208	.	0			c.G4307T						.						114.0	107.0	110.0					1																	200946358		2203	4300	6503	SO:0001583	missense	23046	exon31			CAGATGCGGACGG	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.4307G>T	chr1.hg19:g.200946358C>A	ENSP00000411831:p.Arg1436Leu	30.0	0.0		137.0	10.0	NM_001252102	B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	hg19	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630802	0.67015	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.07567	3.18;3.18;3.18;3.18	4.88	4.88	0.63580	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	0.35970	0.0950	M	0.86953	2.85	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;1.0;0.999;0.998	D;D;D;D	0.91635	0.997;0.999;0.997;0.994	T	0.41448	-0.9508	10	0.87932	D	0	.	18.0342	0.89294	0.0:1.0:0.0:0.0	.	1423;1436;1436;1423	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	L	1423;1423;1436;1436;1436	ENSP00000328494:R1423L;ENSP00000353724:R1423L;ENSP00000433808:R1436L;ENSP00000411831:R1436L	ENSP00000328494:R1423L	R	-	2	0	KIF21B	199212981	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	5.761000	0.68801	2.249000	0.74217	0.561000	0.74099	CGC	.	.		0.642	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332	
DYRK3	8444	hgsc.bcm.edu	37	1	206820946	206820946	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:206820946G>T	ENST00000367109.2	+	3	571	c.403G>T	c.(403-405)Gca>Tca	p.A135S	DYRK3_ENST00000367108.3_Missense_Mutation_p.A115S|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367106.1_Missense_Mutation_p.A115S	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	135					erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTCATCCAAGGCACCCAAAGT	0.413																																					p.A135S	Melanoma(164;427 2622 26826 51707)	Atlas-SNP	.											.	DYRK3	146	.	0			c.G403T						.						79.0	79.0	79.0					1																	206820946		2203	4300	6503	SO:0001583	missense	8444	exon3			TCCAAGGCACCCA	Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.403G>T	chr1.hg19:g.206820946G>T	ENSP00000356076:p.Ala135Ser	79.0	0.0		432.0	35.0	NM_003582	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	Missense_Mutation	SNP	ENST00000367109.2	hg19	CCDS30999.1	.	.	.	.	.	.	.	.	.	.	G	0.108	-1.142325	0.01728	.	.	ENSG00000143479	ENST00000367109;ENST00000367108;ENST00000441486;ENST00000367106	T;T;T;T	0.51817	0.69;0.69;0.69;0.69	5.09	0.837	0.18896	.	0.946011	0.09044	N	0.856863	T	0.20618	0.0496	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.23190	-1.0195	10	0.12430	T	0.62	.	1.6353	0.02740	0.1512:0.1642:0.3442:0.3405	.	135;115	O43781;O43781-2	DYRK3_HUMAN;.	S	135;115;115;115	ENSP00000356076:A135S;ENSP00000356075:A115S;ENSP00000410187:A115S;ENSP00000356073:A115S	ENSP00000356073:A115S	A	+	1	0	DYRK3	204887569	0.007000	0.16637	0.004000	0.12327	0.759000	0.43091	-0.275000	0.08525	-0.005000	0.14395	0.579000	0.79373	GCA	.	.		0.413	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088458.1	NM_003582	
LAMB3	3914	hgsc.bcm.edu	37	1	209789918	209789918	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:209789918G>A	ENST00000356082.4	-	22	3414	c.3280C>T	c.(3280-3282)Cag>Tag	p.Q1094*	LAMB3_ENST00000367030.3_Nonsense_Mutation_p.Q1094*|LAMB3_ENST00000391911.1_Nonsense_Mutation_p.Q1094*	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1094	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		ATGGAACTCTGACCCAACCGG	0.488																																					p.Q1094X		Atlas-SNP	.											.	LAMB3	136	.	0			c.C3280T						.						157.0	149.0	151.0					1																	209789918		2203	4300	6503	SO:0001587	stop_gained	3914	exon22			AACTCTGACCCAA	D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3280C>T	chr1.hg19:g.209789918G>A	ENSP00000348384:p.Gln1094*	89.0	0.0		357.0	20.0	NM_000228	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Nonsense_Mutation	SNP	ENST00000356082.4	hg19	CCDS1487.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094827	0.94197	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	.	.	.	3.91	2.95	0.34219	.	1.007520	0.07981	U	0.985576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.4611	0.21956	0.0:0.2041:0.5857:0.2102	.	.	.	.	X	1094	.	ENSP00000348384:Q1094X	Q	-	1	0	LAMB3	207856541	0.028000	0.19301	0.007000	0.13788	0.185000	0.23345	2.092000	0.41700	0.810000	0.34279	0.449000	0.29647	CAG	.	.		0.488	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088525.2	NM_000228	
HHIPL2	79802	hgsc.bcm.edu	37	1	222705320	222705320	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:222705320C>G	ENST00000343410.6	-	6	1769	c.1711G>C	c.(1711-1713)Gaa>Caa	p.E571Q		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	571					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCTTCATCTTCAGCAAAGGAG	0.433																																					p.E571Q		Atlas-SNP	.											.	HHIPL2	122	.	0			c.G1711C						.						84.0	81.0	82.0					1																	222705320		2203	4300	6503	SO:0001583	missense	79802	exon6			CATCTTCAGCAAA	BC007638	CCDS1530.2	1q41	2008-02-05	2008-01-16	2008-01-16	ENSG00000143512	ENSG00000143512			25842	protein-coding gene	gene with protein product			"""KIAA1822-like"""	KIAA1822L		12975309	Standard	NM_024746		Approved	FLJ13840	uc001hnh.1	Q6UWX4	OTTHUMG00000037545	ENST00000343410.6:c.1711G>C	chr1.hg19:g.222705320C>G	ENSP00000342118:p.Glu571Gln	40.0	0.0		225.0	19.0	NM_024746	Q6GU65|Q96BT4|Q96BU5|Q9H8A0	Missense_Mutation	SNP	ENST00000343410.6	hg19	CCDS1530.2	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999179	0.74818	.	.	ENSG00000143512	ENST00000343410	T	0.11169	2.8	5.0	4.09	0.47781	Soluble quinoprotein glucose/sorbosone dehydrogenase (1);Six-bladed beta-propeller, TolB-like (1);	0.052062	0.64402	D	0.000001	T	0.23688	0.0573	L	0.43757	1.38	0.52099	D	0.999942	D	0.89917	1.0	D	0.97110	1.0	T	0.00581	-1.1660	10	0.39692	T	0.17	-18.8979	12.8232	0.57704	0.0:0.9204:0.0:0.0796	.	571	Q6UWX4	HIPL2_HUMAN	Q	571	ENSP00000342118:E571Q	ENSP00000342118:E571Q	E	-	1	0	HHIPL2	220771943	1.000000	0.71417	0.994000	0.49952	0.982000	0.71751	5.694000	0.68272	1.091000	0.41335	0.591000	0.81541	GAA	.	.		0.433	HHIPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091499.2	NM_024746	
CCDC185	164127	hgsc.bcm.edu	37	1	223568584	223568584	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:223568584C>T	ENST00000366875.3	+	1	1870	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		589										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGAAGCTCCCTCAGGCCT	0.557																																					p.L589L		Atlas-SNP	.											.	C1orf65	71	.	0			c.C1767T						.						65.0	64.0	64.0					1																	223568584		2203	4300	6503	SO:0001819	synonymous_variant	164127	exon1			GAAGCTCCCTCAG																												ENST00000366875.3:c.1767C>T	chr1.hg19:g.223568584C>T		50.0	0.0		207.0	61.0	NM_152610	Q8N746|Q8NA93	Silent	SNP	ENST00000366875.3	hg19	CCDS1537.1																																																																																			.	.		0.557	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1		
WDR26	80232	hgsc.bcm.edu	37	1	224619473	224619473	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:224619473C>A	ENST00000414423.2	-	2	626	c.433G>T	c.(433-435)Gat>Tat	p.D145Y	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_Missense_Mutation_p.D145Y	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	145	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		ATGAGGAGATCAACAGTCTGG	0.403																																					p.D145Y		Atlas-SNP	.											.	WDR26	104	.	0			c.G433T						.						72.0	61.0	64.0					1																	224619473		2203	4300	6503	SO:0001583	missense	80232	exon2			GGAGATCAACAGT	AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.433G>T	chr1.hg19:g.224619473C>A	ENSP00000408108:p.Asp145Tyr	63.0	0.0		218.0	9.0	NM_001115113	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	hg19	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389394	0.82902	.	.	ENSG00000162923	ENST00000414423;ENST00000366852	D;D	0.84070	-1.8;-1.8	5.69	5.69	0.88448	.	.	.	.	.	D	0.89174	0.6640	M	0.62723	1.935	0.80722	D	1	.	.	.	.	.	.	D	0.89395	0.3691	7	0.72032	D	0.01	.	19.8145	0.96560	0.0:1.0:0.0:0.0	.	.	.	.	Y	145	ENSP00000408108:D145Y;ENSP00000355817:D145Y	ENSP00000355817:D145Y	D	-	1	0	WDR26	222686096	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.683000	0.91414	0.563000	0.77884	GAT	.	.		0.403	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
DNAH14	127602	hgsc.bcm.edu	37	1	225332286	225332286	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:225332286C>A	ENST00000445597.2	+	18	3493	c.3493C>A	c.(3493-3495)Cca>Aca	p.P1165T	DNAH14_ENST00000439375.2_Missense_Mutation_p.P1549T|DNAH14_ENST00000430092.1_Missense_Mutation_p.P1549T			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1165					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TCCTGCCGGTCCAGCTGGTAC	0.443																																					p.P1549T		Atlas-SNP	.											.	DNAH14	300	.	0			c.C4645A						.						63.0	66.0	65.0					1																	225332286		692	1591	2283	SO:0001583	missense	127602	exon28			GCCGGTCCAGCTG	U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.3493C>A	chr1.hg19:g.225332286C>A	ENSP00000409472:p.Pro1165Thr	39.0	0.0		121.0	10.0	NM_001373	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	ENST00000445597.2	hg19		.	.	.	.	.	.	.	.	.	.	C	22.8	4.342587	0.82022	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375;ENST00000328556	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	5.45	5.45	0.79879	.	0.000000	0.51477	D	0.000086	T	0.79511	0.4458	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.82382	-0.0485	10	0.87932	D	0	.	18.4185	0.90579	0.0:1.0:0.0:0.0	.	1549	Q0VDD8-4	.	T	1165;1549;1549;644	ENSP00000409472:P1165T;ENSP00000414402:P1549T;ENSP00000392061:P1549T;ENSP00000332424:P644T	ENSP00000332424:P644T	P	+	1	0	DNAH14	223398909	0.999000	0.42202	0.063000	0.19743	0.996000	0.88848	6.447000	0.73465	2.712000	0.92718	0.609000	0.83330	CCA	.	.		0.443	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
CDC42BPA	8476	hgsc.bcm.edu	37	1	227216748	227216748	+	Missense_Mutation	SNP	C	C	G	rs375342151		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:227216748C>G	ENST00000366769.3	-	29	5228	c.3937G>C	c.(3937-3939)Gct>Cct	p.A1313P	CDC42BPA_ENST00000366766.2_Missense_Mutation_p.A1348P|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.A1232P|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.A1285P|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.A1313P|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.A1326P|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.A1293P	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CATGTGAGAGCTCCATGGCGC	0.448																																					p.A1313P		Atlas-SNP	.											.	CDC42BPA	528	.	0			c.G3937C						.						72.0	60.0	64.0					1																	227216748		2203	4300	6503	SO:0001583	missense	8476	exon29			TGAGAGCTCCATG	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.3937G>C	chr1.hg19:g.227216748C>G	ENSP00000355731:p.Ala1313Pro	18.0	0.0		103.0	10.0	NM_003607		Missense_Mutation	SNP	ENST00000366769.3	hg19	CCDS1558.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.44|10.44	1.349882|1.349882	0.24426|0.24426	.|.	.|.	ENSG00000143776|ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765|ENST00000448940;ENST00000442054;ENST00000429440;ENST00000441725	T;T;T;T;T;T;T|.	0.05319|.	3.46;3.46;3.46;3.46;3.46;3.46;3.46|.	5.32|5.32	3.43|3.43	0.39272|0.39272	.|.	0.210090|.	0.50627|.	D|.	0.000116|.	T|T	0.55386|0.55386	0.1917|0.1917	L|L	0.41710|0.41710	1.295|1.295	0.44201|0.44201	D|D	0.997023|0.997023	P;B;B;B;P;B;B;P|.	0.49253|.	0.507;0.0;0.03;0.001;0.699;0.0;0.0;0.921|.	B;B;B;B;P;B;B;P|.	0.56474|.	0.28;0.001;0.145;0.008;0.625;0.003;0.005;0.799|.	T|T	0.51505|0.51505	-0.8697|-0.8697	10|5	0.21014|.	T|.	0.42|.	.|.	11.4823|11.4823	0.50333|0.50333	0.0:0.8543:0.0:0.1457|0.0:0.8543:0.0:0.1457	.|.	1293;1285;628;210;1232;1313;1348;515|.	F5H5N0;Q5VT25-4;E9PEF7;Q5T7A7;Q5VT25-3;Q5VT25-5;Q5VT25-2;Q5T799|.	.;.;.;.;.;.;.;.|.	P|T	1313;1232;1313;1348;1285;628;1293;1326|515;641;210;537	ENSP00000355731:A1313P;ENSP00000355729:A1232P;ENSP00000335341:A1313P;ENSP00000355728:A1348P;ENSP00000355726:A1285P;ENSP00000443275:A1293P;ENSP00000355727:A1326P|.	ENSP00000335341:A1313P|.	A|S	-|-	1|2	0|0	CDC42BPA|CDC42BPA	225283371|225283371	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	1.565000|1.565000	0.36386|0.36386	1.391000|1.391000	0.46566|0.46566	0.585000|0.585000	0.79938|0.79938	GCT|AGC	.	.		0.448	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826	
OBSCN	84033	hgsc.bcm.edu	37	1	228474524	228474524	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:228474524G>T	ENST00000422127.1	+	35	9372	c.9328G>T	c.(9328-9330)Ggt>Tgt	p.G3110C	OBSCN_ENST00000359599.6_Missense_Mutation_p.G1957C|OBSCN_ENST00000366707.4_Missense_Mutation_p.G229C|OBSCN_ENST00000366709.4_Missense_Mutation_p.G229C|OBSCN_ENST00000570156.2_Missense_Mutation_p.G3539C|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3110C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3110	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CATCACAGAGGGTGAGGACTT	0.622																																					p.G3539C		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G10615T						.						66.0	76.0	72.0					1																	228474524		2106	4239	6345	SO:0001583	missense	84033	exon40			ACAGAGGGTGAGG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9328G>T	chr1.hg19:g.228474524G>T	ENSP00000409493:p.Gly3110Cys	41.0	0.0		249.0	29.0	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339114	0.81911	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5	4.81	4.81	0.61882	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94341	0.8181	H	0.99104	4.43	0.53005	D	0.999969	D;D	0.89917	0.999;1.0	D;D	0.97110	0.999;1.0	D	0.96799	0.9588	10	0.87932	D	0	.	17.0384	0.86482	0.0:0.0:1.0:0.0	.	3110;3110	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	3110;3110;229;229;1957	ENSP00000284548:G3110C;ENSP00000409493:G3110C;ENSP00000355668:G229C;ENSP00000355670:G229C;ENSP00000352613:G1957C	ENSP00000284548:G3110C	G	+	1	0	OBSCN	226541147	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	8.169000	0.89672	2.484000	0.83849	0.491000	0.48974	GGT	.	.		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228474710	228474710	+	Missense_Mutation	SNP	G	G	T	rs558072959		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:228474710G>T	ENST00000422127.1	+	35	9558	c.9514G>T	c.(9514-9516)Gcc>Tcc	p.A3172S	OBSCN_ENST00000359599.6_Missense_Mutation_p.A2019S|OBSCN_ENST00000366707.4_Missense_Mutation_p.A291S|OBSCN_ENST00000366709.4_Missense_Mutation_p.A291S|OBSCN_ENST00000570156.2_Missense_Mutation_p.A3601S|OBSCN_ENST00000284548.11_Missense_Mutation_p.A3172S	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3172	Ig-like 31.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCTGGGGGCGCCTGCAGCAG	0.662																																					p.A3601S		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G10801T						.						10.0	12.0	12.0					1																	228474710		2006	4171	6177	SO:0001583	missense	84033	exon40			GGGGGCGCCTGCA	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.9514G>T	chr1.hg19:g.228474710G>T	ENSP00000409493:p.Ala3172Ser	20.0	0.0		191.0	26.0	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	hg19	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462369	0.43736	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	T;T;T;T;T	0.05382	3.45;3.45;3.45;3.45;3.45	5.09	1.06	0.20224	Immunoglobulin subtype 2 (1);	0.367653	0.26467	N	0.024211	T	0.08447	0.0210	L	0.39147	1.195	0.09310	N	1	B;D	0.64830	0.13;0.994	B;P	0.58172	0.173;0.834	T	0.21415	-1.0246	10	0.09590	T	0.72	.	5.6767	0.17753	0.1333:0.0:0.4468:0.4199	.	3172;3172	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	S	3172;3172;291;291;2019	ENSP00000284548:A3172S;ENSP00000409493:A3172S;ENSP00000355668:A291S;ENSP00000355670:A291S;ENSP00000352613:A2019S	ENSP00000284548:A3172S	A	+	1	0	OBSCN	226541333	0.000000	0.05858	0.224000	0.23877	0.043000	0.13939	-0.225000	0.09151	0.034000	0.15491	0.561000	0.74099	GCC	.	.		0.662	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
OBSCN	84033	hgsc.bcm.edu	37	1	228495849	228495849	+	Silent	SNP	G	G	T	rs562134549		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:228495849G>T	ENST00000422127.1	+	47	12548	c.12504G>T	c.(12502-12504)gcG>gcT	p.A4168A	OBSCN_ENST00000366707.4_Silent_p.A1802A|OBSCN_ENST00000366709.4_Silent_p.A1287A|OBSCN_ENST00000570156.2_Silent_p.A5125A|OBSCN_ENST00000284548.11_Silent_p.A4168A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4168					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGTTGATGCGGAGGTGACGG	0.602																																					p.A5125A		Atlas-SNP	.											.	OBSCN	2142	.	0			c.G15375T						.						88.0	101.0	97.0					1																	228495849		2160	4257	6417	SO:0001819	synonymous_variant	84033	exon58			TGATGCGGAGGTG	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.12504G>T	chr1.hg19:g.228495849G>T		75.0	0.0		261.0	113.0	NM_001271223	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Silent	SNP	ENST00000422127.1	hg19	CCDS58065.1																																																																																			.	.		0.602	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843	
SIPA1L2	57568	hgsc.bcm.edu	37	1	232650005	232650005	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:232650005C>A	ENST00000366630.1	-	2	1439	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A361S			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	361					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGCAGATGCCCCAGTGGTT	0.488																																					p.A361S		Atlas-SNP	.											.	SIPA1L2	218	.	0			c.G1081T						.						101.0	103.0	103.0					1																	232650005		1952	4136	6088	SO:0001583	missense	57568	exon1			CAGATGCCCCAGT	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1081G>T	chr1.hg19:g.232650005C>A	ENSP00000355589:p.Ala361Ser	40.0	0.0		140.0	6.0	NM_020808	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	hg19	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694733	0.88830	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	D;D	0.91577	-2.87;-2.87	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95472	0.8529	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95411	0.8498	10	0.72032	D	0.01	-26.4199	19.3561	0.94414	0.0:1.0:0.0:0.0	.	361	Q9P2F8	SI1L2_HUMAN	S	361	ENSP00000355589:A361S;ENSP00000262861:A361S	ENSP00000262861:A361S	A	-	1	0	SIPA1L2	230716628	1.000000	0.71417	0.938000	0.37757	0.992000	0.81027	7.651000	0.83577	2.810000	0.96702	0.650000	0.86243	GCA	.	.		0.488	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839	
RBM34	23029	hgsc.bcm.edu	37	1	235318339	235318339	+	Missense_Mutation	SNP	C	C	A	rs200657743		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:235318339C>A	ENST00000408888.3	-	4	684	c.454G>T	c.(454-456)Gta>Tta	p.V152L	RBM34_ENST00000366606.3_Missense_Mutation_p.V147L			P42696	RBM34_HUMAN	RNA binding motif protein 34	152						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			CTATCTGCTACTTTAACACCA	0.368																																					p.V152L		Atlas-SNP	.											.	RBM34	41	.	0			c.G454T						.						188.0	159.0	168.0					1																	235318339		1819	4089	5908	SO:0001583	missense	23029	exon4			CTGCTACTTTAAC		CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.454G>T	chr1.hg19:g.235318339C>A	ENSP00000386226:p.Val152Leu	155.0	0.0		751.0	57.0	NM_001161533	A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	ENST00000408888.3	hg19	CCDS41477.2	.	.	.	.	.	.	.	.	.	.	C	1.089	-0.664488	0.03428	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000400947;ENST00000447801;ENST00000429912	T;T;T	0.14391	2.51;2.51;2.63	5.67	0.267	0.15622	.	1.363850	0.04381	N	0.360761	T	0.15003	0.0362	M	0.64997	1.995	0.09310	N	1	B;B	0.33171	0.4;0.01	B;B	0.26969	0.075;0.005	T	0.35201	-0.9798	10	0.27785	T	0.31	-1.4571	8.9883	0.36008	0.0:0.5752:0.0:0.4248	.	152;152	P42696-2;P42696	.;RBM34_HUMAN	L	152;147;181;150;181	ENSP00000386226:V152L;ENSP00000355565:V147L;ENSP00000400000:V150L	ENSP00000355565:V147L	V	-	1	0	RBM34	233384962	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.038000	0.12144	0.091000	0.17302	0.655000	0.94253	GTA	.	.		0.368	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100146.1	NM_015014	
ZP4	57829	hgsc.bcm.edu	37	1	238048491	238048491	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:238048491C>A	ENST00000366570.4	-	9	1443	c.1285G>T	c.(1285-1287)Gtg>Ttg	p.V429L	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	429	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.V429L(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGTTTCTCCACTGTAGGGTTC	0.532																																					p.V429L	NSCLC(166;160 2029 11600 18754 19936)	Atlas-SNP	.											ZP4,NS,carcinoma,0,1	ZP4	161	.	1	Substitution - Missense(1)	kidney(1)	c.G1285T						.						88.0	91.0	90.0					1																	238048491		2203	4300	6503	SO:0001583	missense	57829	exon9			TCTCCACTGTAGG	U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.1285G>T	chr1.hg19:g.238048491C>A	ENSP00000355529:p.Val429Leu	83.0	0.0		291.0	74.0	NM_021186	B2RAE1	Missense_Mutation	SNP	ENST00000366570.4	hg19	CCDS1615.1	.	.	.	.	.	.	.	.	.	.	C	5.632	0.301343	0.10678	.	.	ENSG00000116996	ENST00000366570	T	0.74209	-0.82	5.09	-7.04	0.01578	Zona pellucida sperm-binding protein (3);	2.733670	0.01388	N	0.013174	T	0.60958	0.2309	L	0.46741	1.465	0.09310	N	1	B	0.10296	0.003	B	0.16722	0.016	T	0.38243	-0.9670	10	0.25751	T	0.34	.	2.9815	0.05955	0.1038:0.1418:0.3069:0.4474	.	429	Q12836	ZP4_HUMAN	L	429	ENSP00000355529:V429L	ENSP00000355529:V429L	V	-	1	0	ZP4	236115114	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.298000	0.02756	-0.982000	0.03515	-0.840000	0.03056	GTG	.	.		0.532	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095476.1		
CHRM3	1131	hgsc.bcm.edu	37	1	240071656	240071656	+	Missense_Mutation	SNP	G	G	T	rs202097685		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:240071656G>T	ENST00000255380.4	+	5	1684	c.905G>T	c.(904-906)cGc>cTc	p.R302L		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	302					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGCATGAAACGCTCCAACAGG	0.547																																					p.R302L		Atlas-SNP	.											.	CHRM3	118	.	0			c.G905T						.						42.0	45.0	44.0					1																	240071656		2203	4300	6503	SO:0001583	missense	1131	exon5			TGAAACGCTCCAA	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.905G>T	chr1.hg19:g.240071656G>T	ENSP00000255380:p.Arg302Leu	35.0	0.0		195.0	31.0	NM_000740	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	ENST00000255380.4	hg19	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	G	10.74	1.434483	0.25813	.	.	ENSG00000133019	ENST00000255380	T	0.59772	0.24	5.88	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.485395	0.21374	N	0.075600	T	0.32971	0.0847	N	0.08118	0	0.22811	N	0.998705	B	0.23540	0.087	B	0.30179	0.112	T	0.22138	-1.0225	10	0.19590	T	0.45	-4.1978	6.22	0.20675	0.2031:0.0:0.6668:0.1301	.	302	P20309	ACM3_HUMAN	L	302	ENSP00000255380:R302L	ENSP00000255380:R302L	R	+	2	0	CHRM3	238138279	0.330000	0.24705	0.016000	0.15963	0.880000	0.50808	1.231000	0.32624	0.391000	0.25143	0.591000	0.81541	CGC	.	.		0.547	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740	
TPO	7173	hgsc.bcm.edu	37	2	1497607	1497607	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:1497607C>A	ENST00000345913.4	+	11	1893	c.1802C>A	c.(1801-1803)cCt>cAt	p.P601H	TPO_ENST00000349624.3_Missense_Mutation_p.P428H|TPO_ENST00000382198.1_Missense_Mutation_p.P428H|TPO_ENST00000346956.3_Missense_Mutation_p.P601H|TPO_ENST00000329066.4_Missense_Mutation_p.P601H|TPO_ENST00000382201.3_Missense_Mutation_p.P544H|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000337415.3_Missense_Mutation_p.P601H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	601					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCGGCCTGCCTCGCCTGGAG	0.572																																					p.P601H		Atlas-SNP	.											.	TPO	224	.	0			c.C1802A						.						53.0	49.0	50.0					2																	1497607		2203	4300	6503	SO:0001583	missense	7173	exon11			GCCTGCCTCGCCT		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1802C>A	chr2.hg19:g.1497607C>A	ENSP00000318820:p.Pro601His	32.0	0.0		103.0	12.0	NM_001206744	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	hg19	CCDS1643.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.11|11.11	1.542287|1.542287	0.27563|0.27563	.|.	.|.	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.69435	.|-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	4.84|4.84	0.334|0.334	0.15948|0.15948	.|.	.|0.964866	.|0.08705	.|N	.|0.905723	T|T	0.77994|0.77994	0.4214|0.4214	M|M	0.81112|0.81112	2.525|2.525	0.09310|0.09310	N|N	1|1	.|P;D;P;P	.|0.57571	.|0.941;0.98;0.941;0.952	.|P;P;P;P	.|0.57776	.|0.735;0.804;0.735;0.827	T|T	0.66015|0.66015	-0.6028|-0.6028	5|10	.|0.87932	.|D	.|0	-9.514|-9.514	10.2455|10.2455	0.43339|0.43339	0.2471:0.5131:0.2398:0.0|0.2471:0.5131:0.2398:0.0	.|.	.|601;428;544;601	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	I|H	76|601;601;601;428;601;544;428;530;75	.|ENSP00000337263:P601H;ENSP00000318820:P601H;ENSP00000263886:P601H;ENSP00000332044:P428H;ENSP00000329869:P601H;ENSP00000371636:P544H;ENSP00000371633:P428H;ENSP00000405788:P530H;ENSP00000419461:P75H	.|ENSP00000329869:P601H	L|P	+|+	1|2	0|0	TPO|TPO	1476614|1476614	0.003000|0.003000	0.15002|0.15002	0.000000|0.000000	0.03702|0.03702	0.070000|0.070000	0.16714|0.16714	0.521000|0.521000	0.22893|0.22893	0.129000|0.129000	0.18514|0.18514	0.561000|0.561000	0.74099|0.74099	CTC|CCT	.	.		0.572	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	NM_000547	
KCNF1	3754	hgsc.bcm.edu	37	2	11053359	11053359	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:11053359C>T	ENST00000295082.1	+	1	1297	c.807C>T	c.(805-807)agC>agT	p.S269S		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	269					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		TCTACGTGAGCCTCACGCTCA	0.617																																					p.S269S		Atlas-SNP	.											KCNF1,right_lower_lobe,carcinoma,0,1	KCNF1	70	.	0			c.C807T						.						62.0	52.0	55.0					2																	11053359		2203	4300	6503	SO:0001819	synonymous_variant	3754	exon1			CGTGAGCCTCACG	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.807C>T	chr2.hg19:g.11053359C>T		51.0	0.0		71.0	5.0	NM_002236	O43527|Q585L3	Silent	SNP	ENST00000295082.1	hg19	CCDS1676.1																																																																																			.	.		0.617	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236	
KCNF1	3754	hgsc.bcm.edu	37	2	11053487	11053487	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:11053487C>T	ENST00000295082.1	+	1	1425	c.935C>T	c.(934-936)aCc>aTc	p.T312I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	312					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		GGCCTGCAGACCCTCACCTAT	0.622																																					p.T312I		Atlas-SNP	.											.	KCNF1	70	.	0			c.C935T						.						61.0	59.0	60.0					2																	11053487		2203	4300	6503	SO:0001583	missense	3754	exon1			TGCAGACCCTCAC	AF033382	CCDS1676.1	2p25	2011-07-05			ENSG00000162975	ENSG00000162975		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6246	protein-coding gene	gene with protein product		603787		KCNF		9434767, 16382104	Standard	NM_002236		Approved	Kv5.1, kH1, IK8	uc002rax.3	Q9H3M0	OTTHUMG00000119054	ENST00000295082.1:c.935C>T	chr2.hg19:g.11053487C>T	ENSP00000295082:p.Thr312Ile	36.0	0.0		160.0	8.0	NM_002236	O43527|Q585L3	Missense_Mutation	SNP	ENST00000295082.1	hg19	CCDS1676.1	.	.	.	.	.	.	.	.	.	.	c	17.50	3.404087	0.62288	.	.	ENSG00000162975	ENST00000295082	D	0.98684	-5.07	4.74	4.74	0.60224	Ion transport (1);	0.105772	0.64402	D	0.000005	D	0.96642	0.8904	N	0.11427	0.14	0.80722	D	1	D	0.55605	0.972	P	0.57620	0.824	D	0.94414	0.7634	10	0.02654	T	1	.	18.1029	0.89512	0.0:1.0:0.0:0.0	.	312	Q9H3M0	KCNF1_HUMAN	I	312	ENSP00000295082:T312I	ENSP00000295082:T312I	T	+	2	0	KCNF1	10970938	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.348000	0.79779	0.556000	0.70494	ACC	.	.		0.622	KCNF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239265.1	NM_002236	
APOB	338	hgsc.bcm.edu	37	2	21231053	21231053	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:21231053G>A	ENST00000233242.1	-	26	8814	c.8687C>T	c.(8686-8688)cCc>cTc	p.P2896L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2896					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGTTTGGGGATGTTCAA	0.433																																					p.P2896L		Atlas-SNP	.											.	APOB	761	.	0			c.C8687T						.						176.0	173.0	174.0					2																	21231053		2203	4299	6502	SO:0001583	missense	338	exon26			AGTTTGGGGATGT	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8687C>T	chr2.hg19:g.21231053G>A	ENSP00000233242:p.Pro2896Leu	117.0	0.0		230.0	12.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	hg19	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.677007	0.88445	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.01527	4.8	5.73	5.73	0.89815	.	0.000000	0.51477	D	0.000088	T	0.11623	0.0283	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00061	-1.2161	10	0.87932	D	0	.	19.5098	0.95137	0.0:0.0:1.0:0.0	.	2896	P04114	APOB_HUMAN	L	2896	ENSP00000233242:P2896L	ENSP00000233242:P2896L	P	-	2	0	APOB	21084558	1.000000	0.71417	0.975000	0.42487	0.996000	0.88848	9.803000	0.99136	2.707000	0.92482	0.555000	0.69702	CCC	.	.		0.433	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
UBXN2A	165324	hgsc.bcm.edu	37	2	24194229	24194229	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:24194229A>T	ENST00000309033.4	+	3	369	c.125A>T	c.(124-126)gAg>gTg	p.E42V	UBXN2A_ENST00000446425.2_3'UTR|UBXN2A_ENST00000404924.1_Missense_Mutation_p.E42V|UBXN2A_ENST00000535786.1_Missense_Mutation_p.E42V	NM_181713.3	NP_859064.2	P68543	UBX2A_HUMAN	UBX domain protein 2A	42					regulation of gene expression (GO:0010468)|regulation of protein catabolic process (GO:0042176)|regulation of protein ubiquitination (GO:0031396)	cis-Golgi network (GO:0005801)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)				endometrium(1)|large_intestine(3)|liver(1)|lung(6)	11						AGCCTTTTTGAGGAAGCTCAG	0.333																																					p.E42V		Atlas-SNP	.											.	UBXN2A	20	.	0			c.A125T						.						128.0	135.0	133.0					2																	24194229		2203	4300	6503	SO:0001583	missense	165324	exon3			TTTTTGAGGAAGC	BC037901	CCDS1704.1	2p24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000173960	ENSG00000173960		"""UBX domain containing"""	27265	protein-coding gene	gene with protein product			"""UBX domain containing 4"""	UBXD4		12477932	Standard	NM_181713		Approved		uc002ren.3	P68543	OTTHUMG00000125497	ENST00000309033.4:c.125A>T	chr2.hg19:g.24194229A>T	ENSP00000312107:p.Glu42Val	70.0	0.0		113.0	13.0	NM_181713	A8K577|B7ZKP8|Q569G8	Missense_Mutation	SNP	ENST00000309033.4	hg19	CCDS1704.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.948036	0.73787	.	.	ENSG00000173960	ENST00000404924;ENST00000309033;ENST00000535786	T;T;T	0.51574	0.75;0.75;0.7	4.53	4.53	0.55603	.	0.096452	0.64402	D	0.000001	T	0.54951	0.1890	L	0.32530	0.975	0.41646	D	0.989103	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.957	T	0.52533	-0.8563	10	0.33940	T	0.23	-0.4989	12.105	0.53807	1.0:0.0:0.0:0.0	.	42;42	B7ZKP8;P68543	.;UBX2A_HUMAN	V	42	ENSP00000385525:E42V;ENSP00000312107:E42V;ENSP00000440533:E42V	ENSP00000312107:E42V	E	+	2	0	UBXN2A	24047733	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.240000	0.65378	2.011000	0.59026	0.524000	0.50904	GAG	.	.		0.333	UBXN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246824.2	NM_181713	
TRIM54	57159	hgsc.bcm.edu	37	2	27528584	27528584	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:27528584G>C	ENST00000380075.2	+	5	1082	c.742G>C	c.(742-744)Ggc>Cgc	p.G248R	TRIM54_ENST00000296098.4_Missense_Mutation_p.G290R	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	248					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGCGTCCGCGGCCTCATCCG	0.632																																					p.G290R		Atlas-SNP	.											.	TRIM54	35	.	0			c.G868C						.						34.0	32.0	33.0					2																	27528584		2202	4300	6502	SO:0001583	missense	57159	exon6			GTCCGCGGCCTCA	AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.742G>C	chr2.hg19:g.27528584G>C	ENSP00000369415:p.Gly248Arg	36.0	0.0		165.0	33.0	NM_032546	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	ENST00000380075.2	hg19	CCDS1746.2	.	.	.	.	.	.	.	.	.	.	G	15.64	2.894559	0.52121	.	.	ENSG00000138100	ENST00000380075;ENST00000380073;ENST00000296098	T;T	0.40225	1.24;1.04	4.85	3.04	0.35103	.	0.386929	0.26867	N	0.022083	T	0.43478	0.1249	L	0.46157	1.445	0.18873	N	0.999989	P;P	0.41366	0.488;0.747	B;P	0.52823	0.357;0.71	T	0.20438	-1.0275	10	0.33141	T	0.24	-14.4805	4.6928	0.12788	0.1859:0.0:0.6429:0.1711	.	248;290	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	R	248;69;290	ENSP00000369415:G248R;ENSP00000296098:G290R	ENSP00000296098:G290R	G	+	1	0	TRIM54	27382088	0.002000	0.14202	0.852000	0.33557	0.858000	0.48976	0.624000	0.24462	0.461000	0.27071	-0.291000	0.09656	GGC	.	.		0.632	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214199.2	NM_187841	
TRMT61B	55006	hgsc.bcm.edu	37	2	29075273	29075273	+	Splice_Site	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:29075273C>T	ENST00000306108.5	-	4	1109		c.e4+1		TRMT61B_ENST00000484060.1_Splice_Site	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)						mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						ATATTACTCACTTTACTACAT	0.294																																					.		Atlas-SNP	.											.	TRMT61B	28	.	0			c.1085+1G>A						.						79.0	76.0	77.0					2																	29075273		2203	4300	6503	SO:0001630	splice_region_variant	55006	exon5			TACTCACTTTACT	BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.1085+1G>A	chr2.hg19:g.29075273C>T		85.0	0.0		158.0	12.0	NM_017910	Q9H0Q9|Q9NWS7	Splice_Site	SNP	ENST00000306108.5	hg19	CCDS1768.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866656	0.32977	.	.	ENSG00000171103	ENST00000306108	.	.	.	5.43	4.55	0.56014	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.562	0.68148	0.0:0.9286:0.0:0.0714	.	.	.	.	.	-1	.	.	.	-	.	.	TRMT61B	28928777	1.000000	0.71417	1.000000	0.80357	0.238000	0.25445	3.754000	0.55189	1.268000	0.44264	0.655000	0.94253	.	.	.		0.294	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250224.1	NM_017910	Intron
GALNT14	79623	hgsc.bcm.edu	37	2	31165150	31165151	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:31165150_31165151CC>AA	ENST00000349752.5	-	9	1486_1487	c.847_848GG>TT	c.(847-849)GGg>TTg	p.G283L	GALNT14_ENST00000356174.3_Missense_Mutation_p.G250L|GALNT14_ENST00000406653.1_Missense_Mutation_p.G263L|GALNT14_ENST00000420311.2_Missense_Mutation_p.G248L|GALNT14_ENST00000324589.5_Missense_Mutation_p.G288L|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	283	Catalytic subdomain B.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CACGAAGAGCCCTCCAGCTATG	0.49																																					p.G288V|p.G288W		Atlas-SNP	.											.	GALNT14	103	.	0			c.G863T|c.G862T						.																																			SO:0001583	missense	79623	exon10			AAGAGCCCTCCAG|AGAGCCCTCCAGC	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.847_848delinsAA	chr2.hg19:g.31165150_31165151delinsAA	ENSP00000288988:p.Gly283Leu	39.0|38.0	0.0		45.0|44.0	17.0|16.0	NM_001253826	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	hg19	CCDS1773.2																																																																																			.	.		0.490	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572	
XDH	7498	hgsc.bcm.edu	37	2	31591490	31591490	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:31591490C>A	ENST00000379416.3	-	19	2065	c.2017G>T	c.(2017-2019)Gct>Tct	p.A673S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	673					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGGGTGTCAGCAACCACAGCA	0.458																																					p.A673S	Colon(66;682 1445 30109 40147)	Atlas-SNP	.											.	XDH	191	.	0			c.G2017T						.						122.0	112.0	115.0					2																	31591490		2203	4300	6503	SO:0001583	missense	7498	exon19			TGTCAGCAACCAC	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.2017G>T	chr2.hg19:g.31591490C>A	ENSP00000368727:p.Ala673Ser	90.0	0.0		135.0	6.0	NM_000379	Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	hg19	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.159438	0.78226	.	.	ENSG00000158125	ENST00000379416	T	0.42131	0.98	6.17	-4.47	0.03525	Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead (3);	0.332151	0.36628	N	0.002484	T	0.60830	0.2299	M	0.92970	3.365	0.58432	D	0.999997	B	0.24092	0.097	B	0.40444	0.329	T	0.69269	-0.5189	10	0.87932	D	0	.	19.8172	0.96573	0.0:0.8549:0.0:0.1451	.	673	P47989	XDH_HUMAN	S	673	ENSP00000368727:A673S	ENSP00000368727:A673S	A	-	1	0	XDH	31444994	0.272000	0.24172	0.004000	0.12327	0.927000	0.56198	0.902000	0.28459	-0.747000	0.04759	0.655000	0.94253	GCT	.	.		0.458	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379	
SRSF7	6432	hgsc.bcm.edu	37	2	38976737	38976737	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:38976737T>C	ENST00000313117.6	-	3	557	c.320A>G	c.(319-321)tAt>tGt	p.Y107C	SRSF7_ENST00000409276.1_Missense_Mutation_p.Y107C|SRSF7_ENST00000446327.2_Missense_Mutation_p.Y107C|GEMIN6_ENST00000409011.1_5'Flank	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	107					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCACACTCATAGCATCTATC	0.458																																					p.Y107C		Atlas-SNP	.											.	SRSF7	29	.	0			c.A320G						.						149.0	141.0	144.0					2																	38976737		2203	4300	6503	SO:0001583	missense	6432	exon3			CACTCATAGCATC	L41887	CCDS33183.1, CCDS56115.1	2p22.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000115875	ENSG00000115875		"""Zinc fingers, CCHC domain containing"", ""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10789	protein-coding gene	gene with protein product	"""SR splicing factor 7"""	600572	"""splicing factor, arginine/serine-rich 7 (35kD)"", ""splicing factor, arginine/serine-rich 7, 35kDa"""	SFRS7		8013463, 20516191	Standard	NM_001031684		Approved	9G8, ZCRB2, HSSG1, AAG3, RBM37, ZCCHC20	uc002rqz.3	Q16629	OTTHUMG00000102076	ENST00000313117.6:c.320A>G	chr2.hg19:g.38976737T>C	ENSP00000325905:p.Tyr107Cys	101.0	0.0		299.0	17.0	NM_001195446	B4DLU6|G5E9M3|Q564D3	Missense_Mutation	SNP	ENST00000313117.6	hg19	CCDS33183.1	.	.	.	.	.	.	.	.	.	.	T	18.42	3.621157	0.66787	.	.	ENSG00000115875	ENST00000313117;ENST00000446327;ENST00000409276	T;T;T	0.78003	-1.14;-1.14;-1.14	5.93	4.75	0.60458	Zinc finger, CCHC retroviral-type (1);Zinc finger, CCHC-type (2);	0.000000	0.64402	D	0.000004	D	0.89047	0.6604	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90120	0.4198	10	0.87932	D	0	.	12.3223	0.54991	0.1269:0.0:0.0:0.8731	.	107;107	G5E9M3;Q16629	.;SRSF7_HUMAN	C	107	ENSP00000325905:Y107C;ENSP00000402264:Y107C;ENSP00000386806:Y107C	ENSP00000325905:Y107C	Y	-	2	0	SRSF7	38830241	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.677000	0.84024	1.024000	0.39682	0.533000	0.62120	TAT	.	.		0.458	SRSF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219889.2	NM_001031684	
ABCG5	64240	hgsc.bcm.edu	37	2	44053584	44053584	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:44053584T>G	ENST00000260645.1	-	6	850	c.711A>C	c.(709-711)gaA>gaC	p.E237D	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	237	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGCGAGCCAGTTCCACCAGGA	0.532																																					p.E237D		Atlas-SNP	.											.	ABCG5	72	.	0			c.A711C						.						146.0	126.0	133.0					2																	44053584		2203	4300	6503	SO:0001583	missense	64240	exon6			AGCCAGTTCCACC	T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.711A>C	chr2.hg19:g.44053584T>G	ENSP00000260645:p.Glu237Asp	58.0	0.0		146.0	10.0	NM_022436	Q2T9G2|Q96QZ2|Q96QZ3	Missense_Mutation	SNP	ENST00000260645.1	hg19	CCDS1814.1	.	.	.	.	.	.	.	.	.	.	T	11.50	1.657373	0.29425	.	.	ENSG00000138075	ENST00000260645	T	0.42131	0.98	5.56	2.31	0.28768	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.300661	0.40222	N	0.001146	T	0.25344	0.0616	N	0.20845	0.615	0.80722	D	1	P	0.46395	0.877	B	0.43194	0.411	T	0.02560	-1.1141	10	0.13853	T	0.58	.	9.2504	0.37551	0.0:0.6013:0.0:0.3987	.	237	Q9H222	ABCG5_HUMAN	D	237	ENSP00000260645:E237D	ENSP00000260645:E237D	E	-	3	2	ABCG5	43907088	1.000000	0.71417	0.985000	0.45067	0.195000	0.23768	1.080000	0.30779	0.689000	0.31550	-0.242000	0.12053	GAA	.	.		0.532	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250675.1	NM_022436	
SPTBN1	6711	hgsc.bcm.edu	37	2	54855371	54855371	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:54855371C>G	ENST00000356805.4	+	13	2063	c.1782C>G	c.(1780-1782)ttC>ttG	p.F594L	SPTBN1_ENST00000333896.5_Missense_Mutation_p.F581L	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	594					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCAGAAGTTCGCAACAGACG	0.512																																					p.F594L		Atlas-SNP	.											.	SPTBN1	378	.	0			c.C1782G						.						93.0	80.0	85.0					2																	54855371		2203	4300	6503	SO:0001583	missense	6711	exon13			GAAGTTCGCAACA		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.1782C>G	chr2.hg19:g.54855371C>G	ENSP00000349259:p.Phe594Leu	39.0	0.0		63.0	6.0	NM_003128	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	hg19	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.313326	0.81358	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;T	0.28069	1.63;1.63;1.63	5.72	-0.858	0.10689	.	0.105784	0.64402	D	0.000003	T	0.44746	0.1308	L	0.59967	1.855	0.41608	D	0.988894	D;D	0.76494	0.997;0.999	D;D	0.72625	0.963;0.978	T	0.26916	-1.0089	10	0.56958	D	0.05	.	10.1497	0.42784	0.0:0.3365:0.0:0.6635	.	581;594	Q01082-3;Q01082	.;SPTB2_HUMAN	L	594;594;581	ENSP00000349259:F594L;ENSP00000374630:F594L;ENSP00000334156:F581L	ENSP00000334156:F581L	F	+	3	2	SPTBN1	54708875	0.984000	0.35163	0.978000	0.43139	0.990000	0.78478	0.137000	0.15995	-0.376000	0.07943	-0.334000	0.08254	TTC	.	.		0.512	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
MDH1	4190	hgsc.bcm.edu	37	2	63824634	63824634	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:63824634T>A	ENST00000233114.8	+	4	736	c.301T>A	c.(301-303)Tta>Ata	p.L101I	MDH1_ENST00000409476.1_Intron|MDH1_ENST00000394423.1_Missense_Mutation_p.L101I|MDH1_ENST00000539945.1_Missense_Mutation_p.L119I|MDH1_ENST00000409908.1_Intron|MDH1_ENST00000544381.1_Missense_Mutation_p.L12I	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)	101					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	diiodophenylpyruvate reductase activity (GO:0047860)|L-malate dehydrogenase activity (GO:0030060)|malic enzyme activity (GO:0004470)|NAD binding (GO:0051287)			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13						GAGAAAAGATTTACTGAAAGC	0.433																																					p.L119I		Atlas-SNP	.											.	MDH1	29	.	0			c.T355A						.						77.0	76.0	76.0					2																	63824634		2203	4300	6503	SO:0001583	missense	4190	exon4			AAAGATTTACTGA		CCDS1874.1, CCDS56121.1, CCDS56122.1	2p23	2012-10-02			ENSG00000014641	ENSG00000014641	1.1.1.37		6970	protein-coding gene	gene with protein product		154200					Standard	NM_005917		Approved		uc010ypv.2	P40925	OTTHUMG00000129512	ENST00000233114.8:c.301T>A	chr2.hg19:g.63824634T>A	ENSP00000233114:p.Leu101Ile	119.0	0.0		266.0	106.0	NM_001199111	B2R5V5|B4DUN2|B7Z3I7|F5H098|Q6I9V0	Missense_Mutation	SNP	ENST00000233114.8	hg19	CCDS1874.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.355747	0.82243	.	.	ENSG00000014641	ENST00000233114;ENST00000436321;ENST00000454035;ENST00000432309;ENST00000539945;ENST00000544381;ENST00000394423	D;D;D;D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04;-4.04;-4.04;-4.04	5.42	3.05	0.35203	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	H	0.96518	3.835	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.91635	0.998;0.999	D	0.97583	1.0112	10	0.87932	D	0	-19.6791	8.5945	0.33707	0.0:0.2253:0.0:0.7747	.	119;101	F5H098;P40925	.;MDHC_HUMAN	I	101;56;102;119;119;12;101	ENSP00000233114:L101I;ENSP00000394504:L56I;ENSP00000409027:L102I;ENSP00000410073:L119I;ENSP00000438144:L119I;ENSP00000446395:L12I;ENSP00000377945:L101I	ENSP00000233114:L101I	L	+	1	2	MDH1	63678138	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.952000	0.40343	0.451000	0.26802	0.533000	0.62120	TTA	.	.		0.433	MDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251687.1		
C2orf42	54980	hgsc.bcm.edu	37	2	70408657	70408657	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:70408657G>A	ENST00000264434.2	-	3	840	c.461C>T	c.(460-462)tCg>tTg	p.S154L	C2orf42_ENST00000420306.1_Missense_Mutation_p.S154L|C2orf42_ENST00000470096.1_5'Flank	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	154										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ATTCAGGACCGAGCTCTTCAG	0.567																																					p.S154L		Atlas-SNP	.											.	C2orf42	30	.	0			c.C461T						.						64.0	62.0	63.0					2																	70408657		2203	4300	6503	SO:0001583	missense	54980	exon3			AGGACCGAGCTCT	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.461C>T	chr2.hg19:g.70408657G>A	ENSP00000264434:p.Ser154Leu	19.0	0.0		49.0	27.0	NM_017880	D6W5G3|Q9H629	Missense_Mutation	SNP	ENST00000264434.2	hg19	CCDS1899.1	.	.	.	.	.	.	.	.	.	.	G	32	5.142084	0.94560	.	.	ENSG00000115998	ENST00000264434;ENST00000420306;ENST00000447804;ENST00000417865	T;T	0.51325	0.71;0.71	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.66366	0.2782	L	0.61218	1.895	0.58432	D	0.999998	D	0.71674	0.998	D	0.72982	0.979	T	0.69423	-0.5149	10	0.87932	D	0	-21.4195	16.994	0.86361	0.0:0.0:1.0:0.0	.	154	Q9NWW7	CB042_HUMAN	L	154	ENSP00000264434:S154L;ENSP00000404515:S154L	ENSP00000264434:S154L	S	-	2	0	C2orf42	70262161	1.000000	0.71417	0.994000	0.49952	0.931000	0.56810	9.083000	0.94067	2.576000	0.86940	0.485000	0.47835	TCG	.	.		0.567	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880	
CLEC4F	165530	hgsc.bcm.edu	37	2	71047619	71047619	+	Missense_Mutation	SNP	G	G	T	rs575554427		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:71047619G>T	ENST00000272367.2	-	1	113	c.37C>A	c.(37-39)Cag>Aag	p.Q13K	CLEC4F_ENST00000426626.1_Missense_Mutation_p.Q13K	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	13					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GAGACACACTGGTTATCTGTG	0.617																																					p.Q13K	Colon(107;10 2157 6841 26035)	Atlas-SNP	.											.	CLEC4F	95	.	0			c.C37A						.						109.0	78.0	89.0					2																	71047619		2203	4299	6502	SO:0001583	missense	165530	exon1			CACACTGGTTATC	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.37C>A	chr2.hg19:g.71047619G>T	ENSP00000272367:p.Gln13Lys	56.0	0.0		141.0	20.0	NM_173535	A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	hg19	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.734209	0.48939	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.03330	3.99;3.97	3.36	2.44	0.29823	.	.	.	.	.	T	0.05547	0.0146	L	0.52573	1.65	0.09310	N	0.999999	P;P	0.51057	0.941;0.941	B;B	0.44224	0.444;0.444	T	0.33650	-0.9860	9	0.87932	D	0	.	8.4551	0.32895	0.0:0.2405:0.7595:0.0	.	13;13	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	K	13	ENSP00000272367:Q13K;ENSP00000390581:Q13K	ENSP00000272367:Q13K	Q	-	1	0	CLEC4F	70901127	0.418000	0.25440	0.167000	0.22817	0.294000	0.27393	2.075000	0.41538	0.954000	0.37851	0.467000	0.42956	CAG	.	.		0.617	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535	
POLR1A	25885	hgsc.bcm.edu	37	2	86259502	86259502	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:86259502C>A	ENST00000263857.6	-	29	4543	c.4165G>T	c.(4165-4167)Gag>Tag	p.E1389*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.E1389*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1389					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCCTCCTGCTCTCCCTGTGGT	0.537																																					p.E1389X		Atlas-SNP	.											.	POLR1A	137	.	0			c.G4165T						.						141.0	148.0	146.0					2																	86259502		2100	4220	6320	SO:0001587	stop_gained	25885	exon29			CCTGCTCTCCCTG	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4165G>T	chr2.hg19:g.86259502C>A	ENSP00000263857:p.Glu1389*	94.0	0.0		118.0	32.0	NM_015425	B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Nonsense_Mutation	SNP	ENST00000263857.6	hg19	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	43	10.425248	0.99403	.	.	ENSG00000068654	ENST00000263857;ENST00000409681	.	.	.	4.21	3.32	0.38043	.	1.177410	0.05873	N	0.625014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	-24.0561	6.3892	0.21577	0.0:0.6875:0.0:0.3125	.	.	.	.	X	1389	.	ENSP00000263857:E1389X	E	-	1	0	POLR1A	86113013	0.503000	0.26115	1.000000	0.80357	0.633000	0.38033	1.477000	0.35431	2.311000	0.77944	0.462000	0.41574	GAG	.	.		0.537	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425	
CNOT11	55571	hgsc.bcm.edu	37	2	101885756	101885756	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:101885756A>T	ENST00000289382.3	+	7	1577	c.1414A>T	c.(1414-1416)Ata>Tta	p.I472L	RNF149_ENST00000485752.1_5'Flank	NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	472					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GGATTTGTTTATAGAAGTGCA	0.383																																					p.I472L		Atlas-SNP	.											.	.	.	.	0			c.A1414T						.						87.0	90.0	89.0					2																	101885756		2203	4300	6503	SO:0001583	missense	55571	exon7			TTGTTTATAGAAG	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.1414A>T	chr2.hg19:g.101885756A>T	ENSP00000289382:p.Ile472Leu	103.0	0.0		223.0	21.0	NM_017546	Q6P2M9|Q8N681	Missense_Mutation	SNP	ENST00000289382.3	hg19	CCDS2050.1	.	.	.	.	.	.	.	.	.	.	A	34	5.383985	0.95967	.	.	ENSG00000158435	ENST00000289382	.	.	.	5.96	5.96	0.96718	.	0.087263	0.85682	D	0.000000	D	0.84234	0.5427	M	0.88310	2.945	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.87008	0.2121	9	0.66056	D	0.02	-26.6738	16.4484	0.83959	1.0:0.0:0.0:0.0	.	472	Q9UKZ1	CB029_HUMAN	L	472	.	ENSP00000289382:I472L	I	+	1	0	C2orf29	101252188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.210000	0.95106	2.285000	0.76669	0.533000	0.62120	ATA	.	.		0.383	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546	
TGFBRAP1	9392	hgsc.bcm.edu	37	2	105924415	105924415	+	Missense_Mutation	SNP	C	C	A	rs369840873		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:105924415C>A	ENST00000393359.2	-	2	770	c.344G>T	c.(343-345)cGc>cTc	p.R115L	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R115L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	115	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|membrane (GO:0016020)	SMAD binding (GO:0046332)|small GTPase regulator activity (GO:0005083)|transforming growth factor beta receptor binding (GO:0005160)			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCCCTTGATGCGGGCCCCCGA	0.582																																					p.R115L	Esophageal Squamous(183;794 2019 9730 21801 48859)	Atlas-SNP	.											.	TGFBRAP1	70	.	0			c.G344T						.						57.0	63.0	61.0					2																	105924415		2203	4300	6503	SO:0001583	missense	9392	exon2			TTGATGCGGGCCC	AF022795	CCDS2067.1	2q12.1	2008-02-05			ENSG00000135966	ENSG00000135966			16836	protein-coding gene	gene with protein product		606237				9545258, 11278302	Standard	NM_001142621		Approved	TRAP-1, TRAP1	uc002tcr.4	Q8WUH2	OTTHUMG00000130809	ENST00000393359.2:c.344G>T	chr2.hg19:g.105924415C>A	ENSP00000377027:p.Arg115Leu	17.0	0.0		128.0	16.0	NM_004257	A8K5R7|D3DVJ8|O60466	Missense_Mutation	SNP	ENST00000393359.2	hg19	CCDS2067.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168629	0.78339	.	.	ENSG00000135966	ENST00000393359;ENST00000258449	T;T	0.04706	3.57;3.57	5.02	5.02	0.67125	Citron-like (2);	0.055423	0.64402	D	0.000001	T	0.05456	0.0144	L	0.44542	1.39	0.45930	D	0.998766	B	0.34214	0.442	B	0.31614	0.133	T	0.40813	-0.9543	10	0.36615	T	0.2	-30.6776	12.2513	0.54599	0.0:0.9224:0.0:0.0776	.	115	Q8WUH2	TGFA1_HUMAN	L	115	ENSP00000377027:R115L;ENSP00000258449:R115L	ENSP00000258449:R115L	R	-	2	0	TGFBRAP1	105290847	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	4.578000	0.60929	2.760000	0.94817	0.655000	0.94253	CGC	.	.		0.582	TGFBRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253354.2	NM_004257	
SLC5A7	60482	hgsc.bcm.edu	37	2	108622601	108622601	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:108622601G>A	ENST00000264047.2	+	7	1114	c.838G>A	c.(838-840)Ggg>Agg	p.G280R	SLC5A7_ENST00000409059.1_Missense_Mutation_p.G280R|SLC5A7_ENST00000540517.1_Missense_Mutation_p.G175R	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	280					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GGCAGCTTTCGGGTGCCTGGT	0.522																																					p.G280R		Atlas-SNP	.											.	SLC5A7	109	.	0			c.G838A						.						109.0	94.0	99.0					2																	108622601		2203	4300	6503	SO:0001583	missense	60482	exon7			GCTTTCGGGTGCC	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	ENST00000264047.2:c.838G>A	chr2.hg19:g.108622601G>A	ENSP00000264047:p.Gly280Arg	37.0	0.0		149.0	23.0	NM_021815	Q53TF2	Missense_Mutation	SNP	ENST00000264047.2	hg19	CCDS2074.1	.	.	.	.	.	.	.	.	.	.	G	33	5.207259	0.95033	.	.	ENSG00000115665	ENST00000409059;ENST00000540517;ENST00000264047	D;D;D	0.88201	-2.35;-2.35;-2.35	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.95934	0.8676	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.96084	0.9056	10	0.66056	D	0.02	-14.1517	19.8703	0.96847	0.0:0.0:1.0:0.0	.	280	Q9GZV3	SC5A7_HUMAN	R	280;175;280	ENSP00000387346:G280R;ENSP00000445351:G175R;ENSP00000264047:G280R	ENSP00000264047:G280R	G	+	1	0	SLC5A7	107989033	1.000000	0.71417	0.993000	0.49108	0.896000	0.52359	9.810000	0.99221	2.770000	0.95276	0.650000	0.86243	GGG	.	.		0.522	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1		
RANBP2	5903	hgsc.bcm.edu	37	2	109381074	109381074	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:109381074G>A	ENST00000283195.6	+	20	4205	c.4079G>A	c.(4078-4080)aGc>aAc	p.S1360N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1360					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CATTGTAACAGCTGCTCATTA	0.388																																					p.S1360N		Atlas-SNP	.											.	RANBP2	488	.	0			c.G4079A						.						88.0	89.0	89.0					2																	109381074		2203	4300	6503	SO:0001583	missense	5903	exon20			GTAACAGCTGCTC	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4079G>A	chr2.hg19:g.109381074G>A	ENSP00000283195:p.Ser1360Asn	60.0	0.0		217.0	22.0	NM_006267	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	hg19	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	5.864	0.343570	0.11126	.	.	ENSG00000153201	ENST00000283195	T	0.57595	0.39	5.48	5.48	0.80851	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.46737	0.1408	L	0.47716	1.5	0.20196	N	0.999923	B	0.32010	0.351	B	0.34038	0.174	T	0.37174	-0.9717	9	0.29301	T	0.29	-5.1313	11.2651	0.49106	0.0:0.1352:0.7251:0.1397	.	1360	P49792	RBP2_HUMAN	N	1360	ENSP00000283195:S1360N	ENSP00000283195:S1360N	S	+	2	0	RANBP2	108747506	0.890000	0.30428	0.998000	0.56505	0.992000	0.81027	1.266000	0.33039	2.554000	0.86153	0.655000	0.94253	AGC	.	.		0.388	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	
WDR33	55339	hgsc.bcm.edu	37	2	128474768	128474768	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:128474768G>T	ENST00000322313.4	-	17	2988	c.2830C>A	c.(2830-2832)Ccc>Acc	p.P944T		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	944					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		TTCAGAGGGGGAATGCGACCT	0.488																																					p.P944T		Atlas-SNP	.											WDR33,scalp,malignant_melanoma,0,1	WDR33	136	.	0			c.C2830A						.						42.0	40.0	41.0					2																	128474768		2203	4300	6503	SO:0001583	missense	55339	exon17			GAGGGGGAATGCG		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2830C>A	chr2.hg19:g.128474768G>T	ENSP00000325377:p.Pro944Thr	77.0	0.0		181.0	23.0	NM_018383	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	hg19	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564656	0.45694	.	.	ENSG00000136709	ENST00000322313	D	0.89343	-2.5	5.27	5.27	0.74061	.	0.200449	0.35970	N	0.002871	T	0.78451	0.4285	N	0.08118	0	0.80722	D	1	B	0.27498	0.18	B	0.17098	0.017	T	0.78074	-0.2346	10	0.72032	D	0.01	-4.998	14.8293	0.70135	0.0:0.1867:0.8133:0.0	.	944	Q9C0J8	WDR33_HUMAN	T	944	ENSP00000325377:P944T	ENSP00000325377:P944T	P	-	1	0	WDR33	128191238	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	4.230000	0.58632	2.473000	0.83533	0.563000	0.77884	CCC	.	.		0.488	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383	
NCKAP5	344148	hgsc.bcm.edu	37	2	133547663	133547663	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:133547663C>A	ENST00000409261.1	-	13	1398	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I	NCKAP5_ENST00000317721.6_Missense_Mutation_p.S342I|NCKAP5_ENST00000409213.1_Missense_Mutation_p.S342I|NCKAP5_ENST00000405974.3_Missense_Mutation_p.S342I	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	342	Ser-rich.									NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTGCAGGTGCTTGAAAGAGA	0.532																																					p.S342I		Atlas-SNP	.											.	NCKAP5	322	.	0			c.G1025T						.						75.0	81.0	79.0					2																	133547663		2072	4213	6285	SO:0001583	missense	344148	exon13			CAGGTGCTTGAAA	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.1025G>T	chr2.hg19:g.133547663C>A	ENSP00000387128:p.Ser342Ile	60.0	0.0		185.0	16.0	NM_207481	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	hg19	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628812	0.87560	.	.	ENSG00000176771	ENST00000409261;ENST00000409213;ENST00000317721;ENST00000405974;ENST00000537661	T;T;T;T	0.56941	1.79;0.43;1.79;0.43	5.12	5.12	0.69794	.	0.000000	0.37623	U	0.002008	T	0.62889	0.2465	L	0.29908	0.895	0.38970	D	0.958732	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67952	-0.5537	10	0.87932	D	0	.	16.9089	0.86135	0.0:1.0:0.0:0.0	.	342;342	O14513-2;O14513	.;NCKP5_HUMAN	I	342	ENSP00000387128:S342I;ENSP00000386952:S342I;ENSP00000380603:S342I;ENSP00000385692:S342I	ENSP00000380603:S342I	S	-	2	0	NCKAP5	133264133	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.426000	0.73374	2.658000	0.90341	0.650000	0.86243	AGC	.	.		0.532	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
CACNB4	785	hgsc.bcm.edu	37	2	152732958	152732958	+	Missense_Mutation	SNP	C	C	G	rs376364352		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:152732958C>G	ENST00000539935.1	-	5	570	c.503G>C	c.(502-504)aGa>aCa	p.R168T	CACNB4_ENST00000397327.2_Missense_Mutation_p.R121T|CACNB4_ENST00000201943.5_Missense_Mutation_p.R168T|CACNB4_ENST00000360283.6_Missense_Mutation_p.R134T|CACNB4_ENST00000427385.1_Missense_Mutation_p.R150T|CACNB4_ENST00000534999.1_Missense_Mutation_p.R134T	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	168					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	AAAACGTCCTCTTTTTTGTTC	0.418																																					p.R168T		Atlas-SNP	.											.	CACNB4	108	.	0			c.G503C						.	C	THR/ARG,THR/ARG,THR/ARG,THR/ARG	1,3793		0,1,1896	139.0	131.0	134.0		503,449,401,503	5.6	1.0	2		134	0,8242		0,0,4121	no	missense,missense,missense,missense	CACNB4	NM_000726.3,NM_001005746.2,NM_001005747.2,NM_001145798.1	71,71,71,71	0,1,6017	GG,GC,CC		0.0,0.0264,0.0083	benign,benign,benign,benign	168/521,150/503,134/487,168/459	152732958	1,12035	1897	4121	6018	SO:0001583	missense	785	exon5			CGTCCTCTTTTTT	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.503G>C	chr2.hg19:g.152732958C>G	ENSP00000438949:p.Arg168Thr	84.0	0.0		149.0	15.0	NM_001145798	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	ENST00000539935.1	hg19	CCDS46426.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731069	0.48939	2.64E-4	0.0	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.63	5.63	0.86233	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	T	0.76343	0.3974	L	0.28115	0.83	0.58432	D	0.999999	P;B;P;B;P	0.38922	0.651;0.129;0.561;0.418;0.554	B;B;B;B;B	0.39419	0.212;0.071;0.157;0.157;0.299	T	0.72228	-0.4354	10	0.15952	T	0.53	-17.4098	20.0499	0.97621	0.0:1.0:0.0:0.0	.	168;134;168;150;134	A7BJ74;E7DBM8;O00305;B4DG40;O00305-2	.;.;CACB4_HUMAN;.;.	T	168;134;125;163;134;121;150;168;168	ENSP00000438949:R168T;ENSP00000353425:R134T;ENSP00000390161:R163T;ENSP00000443893:R134T;ENSP00000380490:R121T;ENSP00000410978:R150T;ENSP00000201943:R168T	ENSP00000201943:R168T	R	-	2	0	CACNB4	152441204	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.847000	0.69451	2.798000	0.96311	0.655000	0.94253	AGA	.	.		0.418	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3	
ARL6IP6	151188	hgsc.bcm.edu	37	2	153573934	153573934	+	5'Flank	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:153573934C>A	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Missense_Mutation_p.R7L|PRPF40A_ENST00000486100.1_5'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						GCTCCGCCGGCGGCCACTGCC	0.647																																					p.R7L		Atlas-SNP	.											.	PRPF40A	149	.	0			c.G20T						.						30.0	37.0	35.0					2																	153573934		1934	4137	6071	SO:0001631	upstream_gene_variant	55660	exon1			CGCCGGCGGCCAC	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		chr2.hg19:g.153573934C>A	Exception_encountered	25.0	0.0		189.0	31.0	NM_017892	B2RDS6|Q7Z4G7	Missense_Mutation	SNP	ENST00000326446.5	hg19	CCDS2197.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344018	0.61073	.	.	ENSG00000196504	ENST00000410080;ENST00000359961;ENST00000448428	T	0.34859	1.34	4.87	4.87	0.63330	.	.	.	.	.	T	0.19846	0.0477	N	0.08118	0	0.25132	N	0.990568	B	0.11235	0.004	B	0.06405	0.002	T	0.07731	-1.0757	9	0.14656	T	0.56	.	13.3945	0.60843	0.0:1.0:0.0:0.0	.	7	E9PFS0	.	L	7;7;13	ENSP00000386458:R7L	ENSP00000353046:R7L	R	-	2	0	PRPF40A	153282180	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.309000	0.51903	2.518000	0.84900	0.655000	0.94253	CGC	.	.		0.647	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3	NM_152522	
NR4A2	4929	hgsc.bcm.edu	37	2	157186659	157186659	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:157186659C>T	ENST00000339562.4	-	3	402	c.40G>A	c.(40-42)Gga>Aga	p.G14R	NR4A2_ENST00000409572.1_Missense_Mutation_p.G14R|NR4A2_ENST00000539077.1_Missense_Mutation_p.G25R|NR4A2_ENST00000426264.1_Intron|NR4A2_ENST00000429376.1_Intron|NR4A2_ENST00000409108.2_Missense_Mutation_p.G14R	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	14					adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						GGGCTGGCTCCTTGAGGCGAG	0.517																																					p.G14R		Atlas-SNP	.											.	NR4A2	82	.	0			c.G40A						.						48.0	51.0	50.0					2																	157186659		2203	4300	6503	SO:0001583	missense	4929	exon3			TGGCTCCTTGAGG	X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.40G>A	chr2.hg19:g.157186659C>T	ENSP00000344479:p.Gly14Arg	61.0	0.0		155.0	17.0	NM_006186	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	hg19	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003131	0.74932	.	.	ENSG00000153234	ENST00000339562;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000424077	D;D;D;D;D	0.93859	-3.04;-3.04;-3.02;-3.3;-1.75	5.43	5.43	0.79202	.	0.214284	0.48286	D	0.000187	D	0.95007	0.8384	L	0.42245	1.32	0.80722	D	1	D	0.63880	0.993	D	0.64237	0.923	D	0.95066	0.8200	10	0.66056	D	0.02	.	19.0129	0.92881	0.0:1.0:0.0:0.0	.	14	P43354	NR4A2_HUMAN	R	14;14;25;14;14	ENSP00000344479:G14R;ENSP00000386747:G14R;ENSP00000444925:G25R;ENSP00000386993:G14R;ENSP00000406808:G14R	ENSP00000344479:G14R	G	-	1	0	NR4A2	156894905	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.651000	0.83577	2.825000	0.97269	0.655000	0.94253	GGA	.	.		0.517	NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		
LY75	4065	hgsc.bcm.edu	37	2	160737645	160737646	+	Missense_Mutation	DNP	CT	CT	AA			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C|T	C|T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:160737645_160737646CT>AA	ENST00000263636.4	-	8	1379_1380	c.1352_1353AG>TT	c.(1351-1353)gAG>gTT	p.E451V	LY75-CD302_ENST00000504764.1_Missense_Mutation_p.E451V|LY75_ENST00000554112.1_Missense_Mutation_p.E451V|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.E451V|LY75_ENST00000553424.1_Missense_Mutation_p.E451V	NM_002349.3	NP_002340.2	O60449	LY75_HUMAN	lymphocyte antigen 75	451	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				endocytosis (GO:0006897)|immune response (GO:0006955)|inflammatory response (GO:0006954)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		GAACATTTGGCTCATTCTCATC	0.386																																					p.E451D|p.E451V		Atlas-SNP	.											.	LY75	151	.	0			c.G1353T|c.A1352T						.																																			SO:0001583	missense	4065	exon8			ATTTGGCTCATTC|TTTGGCTCATTCT	AF011333	CCDS2211.1	2q24	2011-08-30			ENSG00000054219	ENSG00000054219		"""CD molecules"", ""C-type lectin domain containing"""	6729	protein-coding gene	gene with protein product		604524				9553150	Standard	NM_002349		Approved	DEC-205, CLEC13B, CD205		O60449	OTTHUMG00000132025	ENST00000263636.4:c.1352_1353delinsAA	chr2.hg19:g.160737645_160737646delinsAA	ENSP00000263636:p.Glu451Val	87.0	0.0		258.0|259.0	18.0	NM_002349	O75913|Q53R46|Q53TF5|Q7Z575|Q7Z577	Missense_Mutation	SNP	ENST00000263636.4	hg19	CCDS2211.1																																																																																			.	.		0.386	LY75-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255035.1		
PLA2R1	22925	hgsc.bcm.edu	37	2	160833216	160833216	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:160833216A>G	ENST00000283243.7	-	16	2623	c.2417T>C	c.(2416-2418)aTt>aCt	p.I806T	PLA2R1_ENST00000392771.1_Missense_Mutation_p.I806T	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	806					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CCAGAACGGAATCTTGGGTTT	0.353																																					p.I806T		Atlas-SNP	.											.	PLA2R1	153	.	0			c.T2417C						.						88.0	81.0	84.0					2																	160833216		2203	4300	6503	SO:0001583	missense	22925	exon16			AACGGAATCTTGG	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.2417T>C	chr2.hg19:g.160833216A>G	ENSP00000283243:p.Ile806Thr	96.0	0.0		291.0	21.0	NM_001195641	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	hg19	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	1.441	-0.567640	0.03910	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.06218	3.37;3.33	4.77	3.62	0.41486	.	0.335919	0.30528	N	0.009440	T	0.06554	0.0168	L	0.60455	1.87	0.28249	N	0.925339	B;P;B	0.36959	0.004;0.575;0.265	B;B;B	0.33620	0.011;0.167;0.116	T	0.21245	-1.0251	10	0.14252	T	0.57	.	9.3311	0.38023	0.913:0.0:0.087:0.0	.	806;806;806	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	T	806	ENSP00000283243:I806T;ENSP00000376524:I806T	ENSP00000283243:I806T	I	-	2	0	PLA2R1	160541462	0.985000	0.35326	0.894000	0.35097	0.968000	0.65278	1.144000	0.31565	0.798000	0.33994	0.459000	0.35465	ATT	.	.		0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
SCN2A	6326	hgsc.bcm.edu	37	2	166211045	166211045	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:166211045A>G	ENST00000375437.2	+	17	3553	c.3263A>G	c.(3262-3264)gAt>gGt	p.D1088G	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1088G|SCN2A_ENST00000357398.3_Missense_Mutation_p.D1088G|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1088G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1088					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TATGTCGTGGATGAAAGTGAT	0.373																																					p.D1088G		Atlas-SNP	.											.	SCN2A	589	.	0			c.A3263G						.						113.0	111.0	112.0					2																	166211045		2203	4300	6503	SO:0001583	missense	6326	exon16			TCGTGGATGAAAG	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3263A>G	chr2.hg19:g.166211045A>G	ENSP00000364586:p.Asp1088Gly	102.0	0.0		267.0	15.0	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	A	13.29	2.193601	0.38707	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.26	5.26	0.73747	Sodium ion transport-associated (1);	0.172626	0.41001	D	0.000972	D	0.88239	0.6383	M	0.77616	2.38	0.34725	D	0.729149	B;P	0.47545	0.01;0.897	B;P	0.53760	0.015;0.734	D	0.91929	0.5553	10	0.40728	T	0.16	.	15.1655	0.72821	1.0:0.0:0.0:0.0	.	1088;1088	Q99250-2;Q99250	.;SCN2A_HUMAN	G	1088	ENSP00000364586:D1088G;ENSP00000349973:D1088G;ENSP00000283256:D1088G;ENSP00000364576:D1088G	ENSP00000283256:D1088G	D	+	2	0	SCN2A	165919291	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.903000	0.56318	1.981000	0.57761	0.482000	0.46254	GAT	.	.		0.373	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
CSRNP3	80034	hgsc.bcm.edu	37	2	166514403	166514403	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:166514403T>A	ENST00000342316.4	+	3	553	c.281T>A	c.(280-282)aTg>aAg	p.M94K	CSRNP3_ENST00000314499.7_Missense_Mutation_p.M94K|CSRNP3_ENST00000409420.1_Missense_Mutation_p.M126K	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	94					apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						ACCCTGGGGATGTCCAGCCGC	0.547																																					p.M94K		Atlas-SNP	.											.	CSRNP3	73	.	0			c.T281A						.						51.0	44.0	47.0					2																	166514403		2203	4300	6503	SO:0001583	missense	80034	exon5			TGGGGATGTCCAG	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.281T>A	chr2.hg19:g.166514403T>A	ENSP00000344042:p.Met94Lys	40.0	0.0		133.0	46.0	NM_001172173	B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	Missense_Mutation	SNP	ENST00000342316.4	hg19	CCDS2225.1	.	.	.	.	.	.	.	.	.	.	T	31	5.086010	0.94100	.	.	ENSG00000178662	ENST00000421875;ENST00000431452;ENST00000314499;ENST00000409664;ENST00000342316;ENST00000409420	T;T;T;T;T	0.14893	2.47;2.47;2.47;2.47;2.47	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.46698	0.1406	M	0.87456	2.885	0.80722	D	1	D	0.57899	0.981	D	0.66351	0.943	T	0.55604	-0.8115	10	0.87932	D	0	-18.9762	15.4469	0.75238	0.0:0.0:0.0:1.0	.	94	Q8WYN3	CSRN3_HUMAN	K	94;101;94;94;94;126	ENSP00000412081:M94K;ENSP00000318258:M94K;ENSP00000386278:M94K;ENSP00000344042:M94K;ENSP00000387195:M126K	ENSP00000318258:M94K	M	+	2	0	CSRNP3	166222649	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.997000	0.88414	2.104000	0.64026	0.460000	0.39030	ATG	.	.		0.547	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	NM_024969	
BBS5	129880	hgsc.bcm.edu	37	2	170344622	170344622	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:170344622C>A	ENST00000295240.3	+	5	760	c.384C>A	c.(382-384)caC>caA	p.H128Q	BBS5_ENST00000392663.2_Missense_Mutation_p.H128Q|BBS5_ENST00000554017.1_Missense_Mutation_p.H128Q|RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.H128Q	NM_152384.2	NP_689597.1	Q8N3I7	BBS5_HUMAN	Bardet-Biedl syndrome 5	128					cilium assembly (GO:0042384)|heart looping (GO:0001947)|melanosome transport (GO:0032402)|motile cilium assembly (GO:0044458)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphate binding (GO:0032266)|RNA polymerase II repressing transcription factor binding (GO:0001103)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TGGCAGTACACAGGTATAGTA	0.343									Bardet-Biedl syndrome																												p.H128Q		Atlas-SNP	.											.	BBS5	27	.	0			c.C384A						.						52.0	58.0	56.0					2																	170344622		2202	4299	6501	SO:0001583	missense	129880	exon5	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AGTACACAGGTAT	AY604003	CCDS2233.1	2q31	2011-08-02			ENSG00000163093	ENSG00000163093			970	protein-coding gene	gene with protein product		603650				9888993, 10053027	Standard	NM_152384		Approved	DKFZp762I194		Q8N3I7	OTTHUMG00000132207	ENST00000295240.3:c.384C>A	chr2.hg19:g.170344622C>A	ENSP00000295240:p.His128Gln	117.0	0.0		237.0	79.0	NM_152384	D3DPC3|Q6PKN0	Missense_Mutation	SNP	ENST00000295240.3	hg19	CCDS2233.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982609	0.74474	.	.	ENSG00000163093;ENSG00000163093;ENSG00000163093;ENSG00000251569	ENST00000295240;ENST00000554017;ENST00000392663;ENST00000513963	T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77	5.38	3.58	0.41010	.	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	L	0.46741	1.465	0.80722	D	1	D;P;P	0.69078	0.997;0.911;0.927	D;P;P	0.65874	0.939;0.563;0.602	T	0.77027	-0.2740	10	0.44086	T	0.13	-10.4498	11.5199	0.50545	0.0:0.8549:0.0:0.1451	.	128;128;128	E9PBE3;Q8N3I7-2;Q8N3I7	.;.;BBS5_HUMAN	Q	128	ENSP00000295240:H128Q;ENSP00000452313:H128Q;ENSP00000376431:H128Q;ENSP00000424363:H128Q	ENSP00000295240:H128Q	H	+	3	2	BBS5;RP11-724O16.1	170052868	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.978000	0.63799	0.649000	0.30751	0.655000	0.94253	CAC	.	.		0.343	BBS5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255265.2	NM_152384	
UBR3	130507	hgsc.bcm.edu	37	2	170806152	170806152	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:170806152A>G	ENST00000272793.5	+	23	3172	c.3122A>G	c.(3121-3123)gAa>gGa	p.E1041G	UBR3_ENST00000418381.1_Missense_Mutation_p.E1041G			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1041					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TTAGTAGCAGAACGTAGAAAG	0.358																																					p.E1041G		Atlas-SNP	.											.	UBR3	182	.	0			c.A3122G						.						47.0	39.0	41.0					2																	170806152		692	1590	2282	SO:0001583	missense	130507	exon23			TAGCAGAACGTAG	AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3122A>G	chr2.hg19:g.170806152A>G	ENSP00000272793:p.Glu1041Gly	48.0	0.0		101.0	5.0	NM_172070	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	ENST00000272793.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.7|27.7	4.854316|4.854316	0.91355|0.91355	.|.	.|.	ENSG00000144357|ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381|ENST00000392632	T;T|.	0.56275|.	0.47;0.47|.	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|.	.|.	.|.	.|.	T|T	0.57873|0.57873	0.2083|0.2083	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.72982|.	0.979|.	T|T	0.54768|0.54768	-0.8244|-0.8244	9|5	0.33141|.	T|.	0.24|.	.|.	15.2668|15.2668	0.73669|0.73669	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1041|.	Q6ZT12|.	UBR3_HUMAN|.	G|D	1041|99	ENSP00000272793:E1041G;ENSP00000396068:E1041G|.	ENSP00000272793:E1041G|.	E|N	+|+	2|1	0|0	UBR3|UBR3	170514398|170514398	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	9.336000|9.336000	0.96533|0.96533	2.021000|2.021000	0.59480|0.59480	0.524000|0.524000	0.50904|0.50904	GAA|AAC	.	.		0.358	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255290.2	NM_172070	
CHRNA1	1134	hgsc.bcm.edu	37	2	175624066	175624066	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:175624066A>T	ENST00000261007.5	-	3	293	c.227T>A	c.(226-228)cTg>cAg	p.L76Q	CHRNA1_ENST00000409542.1_Missense_Mutation_p.L76Q|CHRNA1_ENST00000409219.1_Missense_Mutation_p.L76Q|CHRNA1_ENST00000348749.5_Missense_Mutation_p.L76Q|CHRNA1_ENST00000409323.1_Missense_Mutation_p.L76Q|AC018890.6_ENST00000442996.1_RNA	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	76					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	TACCTGTTTCAGACGCACATT	0.428																																					p.L76Q		Atlas-SNP	.											.	CHRNA1	92	.	0			c.T227A						.						106.0	101.0	102.0					2																	175624066		2203	4300	6503	SO:0001583	missense	1134	exon3			TGTTTCAGACGCA	Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.227T>A	chr2.hg19:g.175624066A>T	ENSP00000261007:p.Leu76Gln	65.0	0.0		198.0	13.0	NM_001039523	B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	hg19	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.883238	0.91740	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58	5.95	5.95	0.96441	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.93245	0.7848	M	0.92738	3.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;0.997;1.0	D	0.94649	0.7837	10	0.87932	D	0	.	16.4101	0.83708	1.0:0.0:0.0:0.0	.	76;76;76	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	Q	76	ENSP00000261008:L76Q;ENSP00000261007:L76Q;ENSP00000387026:L76Q;ENSP00000386611:L76Q;ENSP00000386684:L76Q	ENSP00000261007:L76Q	L	-	2	0	CHRNA1	175332312	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.277000	0.95755	2.280000	0.76307	0.460000	0.39030	CTG	.	.		0.428	CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1		
HOXD4	3233	hgsc.bcm.edu	37	2	177017653	177017653	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:177017653G>C	ENST00000306324.3	+	2	1163	c.751G>C	c.(751-753)Gac>Cac	p.D251H	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	251					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		CCACCACACGGACCTGACGAC	0.627																																					p.D251H		Atlas-SNP	.											.	HOXD4	32	.	0			c.G751C						.						70.0	77.0	75.0					2																	177017653		2203	4300	6503	SO:0001583	missense	3233	exon2			CACACGGACCTGA		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.751G>C	chr2.hg19:g.177017653G>C	ENSP00000302548:p.Asp251His	43.0	0.0		170.0	18.0	NM_014621	B2R9R3|Q96AU0	Missense_Mutation	SNP	ENST00000306324.3	hg19	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.988556	0.74589	.	.	ENSG00000170166	ENST00000306324	D	0.91011	-2.77	5.67	5.67	0.87782	.	1.924890	0.02868	N	0.131199	D	0.95529	0.8547	L	0.60455	1.87	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.85832	0.1392	10	0.87932	D	0	.	19.7626	0.96329	0.0:0.0:1.0:0.0	.	251	P09016	HXD4_HUMAN	H	251	ENSP00000302548:D251H	ENSP00000302548:D251H	D	+	1	0	HOXD4	176725899	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.914000	0.87478	2.676000	0.91093	0.561000	0.74099	GAC	.	.		0.627	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2		
HIBCH	26275	hgsc.bcm.edu	37	2	191155206	191155206	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:191155206A>C	ENST00000359678.5	-	5	604	c.310T>G	c.(310-312)Tcg>Gcg	p.S104A	HIBCH_ENST00000392332.3_Missense_Mutation_p.S104A	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	104					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TCAGCTTCCGAGATCACTAGG	0.323																																					p.S104A		Atlas-SNP	.											.	HIBCH	28	.	0			c.T310G						.						72.0	68.0	70.0					2																	191155206		2203	4300	6503	SO:0001583	missense	26275	exon5			CTTCCGAGATCAC	U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.310T>G	chr2.hg19:g.191155206A>C	ENSP00000352706:p.Ser104Ala	64.0	0.0		122.0	17.0	NM_014362	D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	ENST00000359678.5	hg19	CCDS2304.1	.	.	.	.	.	.	.	.	.	.	A	0.017	-1.494319	0.01009	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000409934	T;T;T	0.70282	-0.14;-0.47;-0.14	5.42	-0.0735	0.13735	Crotonase, core (1);	.	.	.	.	T	0.33381	0.0861	N	0.01289	-0.905	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.38564	-0.9655	9	0.05620	T	0.96	0.7649	9.0984	0.36653	0.3045:0.5681:0.0:0.1274	.	104;104	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	A	104;104;158	ENSP00000376144:S104A;ENSP00000352706:S104A;ENSP00000387247:S158A	ENSP00000352706:S104A	S	-	1	0	HIBCH	190863451	0.985000	0.35326	0.903000	0.35520	0.007000	0.05969	0.560000	0.23500	0.111000	0.17947	-0.461000	0.05368	TCG	.	.		0.323	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255933.1		
MYO1B	4430	hgsc.bcm.edu	37	2	192160953	192160953	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:192160953G>T	ENST00000392318.3	+	3	498		c.e3+1		MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCCCTCACATGTAAGTACTGT	0.363																																					.		Atlas-SNP	.											.	MYO1B	160	.	0			c.251+1G>T						.						78.0	73.0	75.0					2																	192160953		2203	4300	6503	SO:0001630	splice_region_variant	4430	exon3			TCACATGTAAGTA	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.251+1G>T	chr2.hg19:g.192160953G>T		58.0	0.0		146.0	61.0	NM_012223	O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	hg19	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752989	0.89753	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000392316	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8567	0.96761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191869198	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.613000	0.98350	2.706000	0.92434	0.579000	0.79373	.	.	.		0.363	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1	NM_012223	Intron
SLC39A10	57181	hgsc.bcm.edu	37	2	196593015	196593015	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:196593015C>A	ENST00000409086.3	+	9	2554	c.2279C>A	c.(2278-2280)aCa>aAa	p.T760K	SLC39A10_ENST00000359634.5_Missense_Mutation_p.T760K|SLC39A10_ENST00000541054.1_Missense_Mutation_p.T310K	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	760					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			AATAACATCACACTTTGGATC	0.408																																					p.T760K		Atlas-SNP	.											.	SLC39A10	89	.	0			c.C2279A						.						253.0	216.0	229.0					2																	196593015		2203	4300	6503	SO:0001583	missense	57181	exon9			ACATCACACTTTG		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.2279C>A	chr2.hg19:g.196593015C>A	ENSP00000386766:p.Thr760Lys	150.0	0.0		387.0	53.0	NM_020342	A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	hg19	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480599	0.84747	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.50548	0.74;0.74;0.74	5.4	4.53	0.55603	.	0.045219	0.85682	D	0.000000	T	0.63343	0.2503	L	0.59967	1.855	0.80722	D	1	D	0.67145	0.996	D	0.72338	0.977	T	0.64158	-0.6473	10	0.45353	T	0.12	.	14.1635	0.65461	0.0:0.9285:0.0:0.0715	.	760	Q9ULF5	S39AA_HUMAN	K	760;760;310	ENSP00000386766:T760K;ENSP00000352655:T760K;ENSP00000437787:T310K	ENSP00000352655:T760K	T	+	2	0	SLC39A10	196301260	1.000000	0.71417	0.981000	0.43875	0.992000	0.81027	7.604000	0.82830	1.527000	0.49086	0.655000	0.94253	ACA	.	.		0.408	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1	XM_047707	
DNAH7	56171	hgsc.bcm.edu	37	2	196825086	196825086	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:196825086A>G	ENST00000312428.6	-	18	2889	c.2789T>C	c.(2788-2790)tTg>tCg	p.L930S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	930	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AACTGATGCCAAAATAAATGT	0.348																																					p.L930S		Atlas-SNP	.											.	DNAH7	512	.	0			c.T2789C						.						117.0	116.0	116.0					2																	196825086		1856	4101	5957	SO:0001583	missense	56171	exon18			GATGCCAAAATAA	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2789T>C	chr2.hg19:g.196825086A>G	ENSP00000311273:p.Leu930Ser	53.0	0.0		86.0	10.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	hg19	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.018893	0.75275	.	.	ENSG00000118997	ENST00000312428	T	0.69561	-0.41	5.64	5.64	0.86602	Dynein heavy chain, domain-2 (1);	0.000000	0.35151	U	0.003404	D	0.89441	0.6716	H	0.99090	4.425	0.80722	D	1	D	0.56287	0.975	D	0.68483	0.958	D	0.93764	0.7069	10	0.87932	D	0	.	15.8646	0.79055	1.0:0.0:0.0:0.0	.	930	Q8WXX0	DYH7_HUMAN	S	930	ENSP00000311273:L930S	ENSP00000311273:L930S	L	-	2	0	DNAH7	196533331	1.000000	0.71417	0.805000	0.32314	0.845000	0.48019	7.403000	0.79983	2.149000	0.67028	0.477000	0.44152	TTG	.	.		0.348	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
SF3B1	23451	hgsc.bcm.edu	37	2	198267360	198267360	+	Missense_Mutation	SNP	T	T	G	rs374250186		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:198267360T>G	ENST00000335508.6	-	14	2088	c.1997A>C	c.(1996-1998)aAg>aCg	p.K666T	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	666					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)	p.K666R(7)|p.K666T(6)|p.K666M(6)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTGTACAATCTTAATACCAGT	0.413			Mis		myelodysplastic syndrome																																p.K666T		Atlas-SNP	.		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	SF3B1,NS,malignant_melanoma,0,27	SF3B1	1038	.	19	Substitution - Missense(19)	haematopoietic_and_lymphoid_tissue(18)|NS(1)	c.A1997C						.						116.0	116.0	116.0					2																	198267360		2203	4300	6503	SO:0001583	missense	23451	exon14			ACAATCTTAATAC	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1997A>C	chr2.hg19:g.198267360T>G	ENSP00000335321:p.Lys666Thr	99.0	0.0		242.0	20.0	NM_012433	E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	hg19	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	26.4	4.736206	0.89482	.	.	ENSG00000115524	ENST00000335508	T	0.65549	-0.16	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85208	0.5644	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.89754	0.3942	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	666	O75533	SF3B1_HUMAN	T	666	ENSP00000335321:K666T	ENSP00000335321:K666T	K	-	2	0	SF3B1	197975605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	AAG	.	.		0.413	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2		
DYTN	391475	hgsc.bcm.edu	37	2	207530732	207530732	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:207530732G>T	ENST00000452335.2	-	10	1118	c.1002C>A	c.(1000-1002)aaC>aaA	p.N334K		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	334						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTGTATTGGTTTAACTGTT	0.403																																					p.N334K		Atlas-SNP	.											.	DYTN	168	.	0			c.C1002A						.						174.0	154.0	161.0					2																	207530732		1826	4080	5906	SO:0001583	missense	391475	exon10			GTATTGGTTTAAC	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1002C>A	chr2.hg19:g.207530732G>T	ENSP00000396593:p.Asn334Lys	114.0	0.0		220.0	21.0	NM_001093730		Missense_Mutation	SNP	ENST00000452335.2	hg19	CCDS46502.1	.	.	.	.	.	.	.	.	.	.	G	8.469	0.857115	0.17106	.	.	ENSG00000232125	ENST00000452335	T	0.15718	2.4	4.89	0.962	0.19643	.	.	.	.	.	T	0.07548	0.0190	N	0.24115	0.695	0.09310	N	1	P	0.39282	0.666	B	0.33339	0.162	T	0.24119	-1.0169	9	0.22109	T	0.4	-1.6294	1.7438	0.02958	0.1824:0.162:0.4882:0.1675	.	334	A2CJ06	DYTN_HUMAN	K	334	ENSP00000396593:N334K	ENSP00000396593:N334K	N	-	3	2	DYTN	207238977	0.026000	0.19158	0.013000	0.15412	0.517000	0.34286	-0.050000	0.11904	0.061000	0.16311	0.561000	0.74099	AAC	.	.		0.403	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
IDH1	3417	hgsc.bcm.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																p.R132C	Pancreas(158;264 1958 3300 35450 36047)	Atlas-SNP	.		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	IDH1,NS,haematopoietic_neoplasm,0,788	IDH1	6310	.	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	c.C394T						.						81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417	exon4			CATGACGACCTAT		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	chr2.hg19:g.209113113G>A	ENSP00000390265:p.Arg132Cys	91.0	0.0		267.0	17.0	NM_005896	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	hg19	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT	.	.		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1		
ERBB4	2066	hgsc.bcm.edu	37	2	212615384	212615384	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:212615384G>T	ENST00000342788.4	-	5	912	c.602C>A	c.(601-603)aCa>aAa	p.T201K	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.T201K|ERBB4_ENST00000436443.1_Missense_Mutation_p.T201K	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	201	Cys-rich.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.T201K(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	ATGATTTTCTGTGGGTCCCCA	0.458										TSP Lung(8;0.080)																											p.T201K		Atlas-SNP	.											ERBB4,NS,carcinoma,0,1	ERBB4	480	.	1	Substitution - Missense(1)	endometrium(1)	c.C602A						.						136.0	113.0	121.0					2																	212615384		2203	4300	6503	SO:0001583	missense	2066	exon5			TTTTCTGTGGGTC	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.602C>A	chr2.hg19:g.212615384G>T	ENSP00000342235:p.Thr201Lys	54.0	0.0		124.0	15.0	NM_001042599	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	hg19	CCDS2394.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.73|17.73	3.462532|3.462532	0.63513|0.63513	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000260943|ENST00000342788;ENST00000436443;ENST00000402597	.|D;D;D	.|0.82081	.|-1.57;-1.57;-1.57	5.58|5.58	5.58|5.58	0.84498|0.84498	.|Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.|0.211367	.|0.49916	.|D	.|0.000132	T|T	0.69557|0.69557	0.3124|0.3124	N|N	0.08118|0.08118	0|0	0.43559|0.43559	D|D	0.995878|0.995878	.|B;B;B;B;B	.|0.06786	.|0.0;0.001;0.0;0.0;0.0	.|B;B;B;B;B	.|0.09377	.|0.001;0.004;0.001;0.001;0.0	T|T	0.64041|0.64041	-0.6500|-0.6500	5|9	.|.	.|.	.|.	.|.	19.6257|19.6257	0.95677|0.95677	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|201;201;60;201;201	.|Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303	.|.;.;.;.;ERBB4_HUMAN	K|K	201|201	.|ENSP00000342235:T201K;ENSP00000403204:T201K;ENSP00000385565:T201K	.|.	Q|T	-|-	1|2	0|0	ERBB4|ERBB4	212323629|212323629	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.303000|5.303000	0.65738|0.65738	2.625000|2.625000	0.88918|0.88918	0.650000|0.650000	0.86243|0.86243	CAG|ACA	.	.		0.458	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ABCA12	26154	hgsc.bcm.edu	37	2	215823013	215823013	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:215823013G>T	ENST00000272895.7	-	41	6324	c.6105C>A	c.(6103-6105)ttC>ttA	p.F2035L	AC072062.1_ENST00000420134.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.F1717L|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2035					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGTCATAAATGAAGTTTGTTA	0.383																																					p.F2035L	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											.	ABCA12	368	.	0			c.C6105A						.						203.0	180.0	188.0					2																	215823013		2203	4300	6503	SO:0001583	missense	26154	exon41			ATAAATGAAGTTT	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6105C>A	chr2.hg19:g.215823013G>T	ENSP00000272895:p.Phe2035Leu	71.0	0.0		139.0	16.0	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.949949	0.73787	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87809	-2.3;-2.3	5.52	4.65	0.58169	.	0.000000	0.64402	D	0.000001	D	0.90930	0.7149	M	0.82923	2.615	0.80722	D	1	P;P	0.35944	0.501;0.529	P;B	0.48063	0.565;0.331	D	0.91174	0.4971	10	0.62326	D	0.03	.	11.5673	0.50813	0.0684:0.125:0.8066:0.0	.	2035;1717	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	L	2035;1717	ENSP00000272895:F2035L;ENSP00000374312:F1717L	ENSP00000272895:F2035L	F	-	3	2	ABCA12	215531258	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.670000	0.68088	1.483000	0.48342	0.650000	0.86243	TTC	.	.		0.383	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
ABCA12	26154	hgsc.bcm.edu	37	2	215843664	215843664	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:215843664C>T	ENST00000272895.7	-	32	5060	c.4841G>A	c.(4840-4842)gGa>gAa	p.G1614E	ABCA12_ENST00000389661.4_Missense_Mutation_p.G1296E	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1614					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AACAAGCTCTCCCCCAATATC	0.498																																					p.G1614E	Ovarian(66;664 1488 5121 34295)	Atlas-SNP	.											.	ABCA12	368	.	0			c.G4841A						.						158.0	139.0	145.0					2																	215843664		2203	4300	6503	SO:0001583	missense	26154	exon32			AGCTCTCCCCCAA	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4841G>A	chr2.hg19:g.215843664C>T	ENSP00000272895:p.Gly1614Glu	106.0	0.0		320.0	21.0	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	hg19	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304121	0.81136	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	T;T	0.62639	0.01;0.01	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000002	T	0.74152	0.3679	L	0.43554	1.36	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.979	T	0.72944	-0.4138	10	0.45353	T	0.12	.	19.4492	0.94860	0.0:1.0:0.0:0.0	.	1614;1296	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	E	1614;1296	ENSP00000272895:G1614E;ENSP00000374312:G1296E	ENSP00000272895:G1614E	G	-	2	0	ABCA12	215551909	0.995000	0.38212	0.998000	0.56505	0.901000	0.52897	4.063000	0.57499	2.669000	0.90835	0.655000	0.94253	GGA	.	.		0.498	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
FAM124B	79843	hgsc.bcm.edu	37	2	225266346	225266346	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:225266346C>G	ENST00000409685.3	-	1	405	c.140G>C	c.(139-141)cGg>cCg	p.R47P	FAM124B_ENST00000243806.2_Missense_Mutation_p.R47P|FAM124B_ENST00000389874.3_Missense_Mutation_p.R47P	NM_001122779.1	NP_001116251.1	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	47										endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGGACTGGCCCGTTCAGACAC	0.572																																					p.R47P		Atlas-SNP	.											FAM124B_ENST00000409685,NS,carcinoma,0,2	FAM124B	71	.	0			c.G140C						.						47.0	49.0	49.0					2																	225266346		2203	4300	6503	SO:0001583	missense	79843	exon1			CTGGCCCGTTCAG	AK075126	CCDS2461.1, CCDS46527.1	2q36.2	2008-02-05			ENSG00000124019	ENSG00000124019			26224	protein-coding gene	gene with protein product						12477932	Standard	NM_001122779		Approved	FLJ22746	uc002vnx.3	Q9H5Z6	OTTHUMG00000133168	ENST00000409685.3:c.140G>C	chr2.hg19:g.225266346C>G	ENSP00000386895:p.Arg47Pro	36.0	0.0		118.0	27.0	NM_024785	A6NNC7|Q8NBZ4|Q8TAV7	Missense_Mutation	SNP	ENST00000409685.3	hg19	CCDS46527.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.695087	0.68386	.	.	ENSG00000124019	ENST00000389874;ENST00000409685;ENST00000243806	T;T;T	0.55052	0.54;0.54;0.54	5.81	5.81	0.92471	.	0.052994	0.64402	D	0.000001	T	0.76637	0.4015	M	0.83603	2.65	0.58432	D	0.999998	D;D	0.89917	0.986;1.0	D;D	0.79784	0.927;0.993	T	0.78398	-0.2219	10	0.66056	D	0.02	-33.1611	20.0628	0.97684	0.0:1.0:0.0:0.0	.	47;47	Q9H5Z6;Q9H5Z6-2	F124B_HUMAN;.	P	47	ENSP00000374524:R47P;ENSP00000386895:R47P;ENSP00000243806:R47P	ENSP00000243806:R47P	R	-	2	0	FAM124B	224974590	0.968000	0.33430	0.386000	0.26170	0.075000	0.17131	7.294000	0.78760	2.745000	0.94114	0.655000	0.94253	CGG	.	.		0.572	FAM124B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330873.1	NM_024785	
SLC19A3	80704	hgsc.bcm.edu	37	2	228560620	228560620	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:228560620A>G	ENST00000258403.3	-	4	1228	c.1157T>C	c.(1156-1158)cTt>cCt	p.L386P	SLC19A3_ENST00000541617.1_Missense_Mutation_p.L382P|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	386					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TATGGTTATAAGAAGCATATA	0.388																																					p.L386P		Atlas-SNP	.											.	SLC19A3	62	.	0			c.T1157C						.						68.0	72.0	71.0					2																	228560620		2203	4300	6503	SO:0001583	missense	80704	exon4			GTTATAAGAAGCA	AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.1157T>C	chr2.hg19:g.228560620A>G	ENSP00000258403:p.Leu386Pro	55.0	0.0		87.0	36.0	NM_025243		Missense_Mutation	SNP	ENST00000258403.3	hg19	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.057777	0.76074	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.89196	-2.48;-2.48	5.03	5.03	0.67393	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.95598	0.8569	M	0.93016	3.37	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96558	0.9413	10	0.72032	D	0.01	-20.1456	14.927	0.70887	1.0:0.0:0.0:0.0	.	382;386	F5H2M8;Q9BZV2	.;S19A3_HUMAN	P	386;382	ENSP00000258403:L386P;ENSP00000445519:L382P	ENSP00000258403:L386P	L	-	2	0	SLC19A3	228268864	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.630000	0.90987	2.111000	0.64477	0.533000	0.62120	CTT	.	.		0.388	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1		
USP40	55230	hgsc.bcm.edu	37	2	234394446	234394446	+	Silent	SNP	G	G	A	rs542793420		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:234394446G>A	ENST00000427112.2	-	28	3407	c.3372C>T	c.(3370-3372)ccC>ccT	p.P1124P	USP40_ENST00000251722.6_Silent_p.P1124P|USP40_ENST00000450966.1_Silent_p.P1136P|USP40_ENST00000496298.1_5'UTR			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1124					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CGAACTTTTCGGGAAAGTATT	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18876	0.001		0.0	False		,,,				2504	0.0				p.P1136P		Atlas-SNP	.											.	USP40	174	.	0			c.C3408T						.						24.0	27.0	26.0					2																	234394446		1875	4098	5973	SO:0001819	synonymous_variant	55230	exon28			CTTTTCGGGAAAG	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.3372C>T	chr2.hg19:g.234394446G>A		113.0	0.0		266.0	107.0	NM_018218	Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	hg19	CCDS46547.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312564	0.23908	.	.	ENSG00000085982	ENST00000454354	T	0.34072	1.38	5.75	-2.8	0.05823	.	0.636347	0.17268	N	0.180514	T	0.36853	0.0982	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33574	-0.9863	7	0.62326	D	0.03	.	4.7274	0.12948	0.4326:0.0:0.3385:0.2289	.	.	.	.	L	92	ENSP00000394133:P92L	ENSP00000394133:P92L	P	-	2	0	USP40	234059185	0.357000	0.24938	0.954000	0.39281	0.965000	0.64279	-0.372000	0.07504	-0.444000	0.07170	-1.000000	0.02509	CCG	.	.		0.512	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1	XM_114294	
COL6A3	1293	hgsc.bcm.edu	37	2	238249117	238249117	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:238249117C>T	ENST00000295550.4	-	38	8894	c.8442G>A	c.(8440-8442)agG>agA	p.R2814R	COL6A3_ENST00000409809.1_Silent_p.R2608R|COL6A3_ENST00000472056.1_Silent_p.R2207R|COL6A3_ENST00000347401.3_Silent_p.R2613R|COL6A3_ENST00000353578.4_Silent_p.R2608R|COL6A3_ENST00000346358.4_Silent_p.R2614R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2814	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ATGGCAACAGCCTCCCGAAGC	0.552																																					p.R2814R		Atlas-SNP	.											.	COL6A3	608	.	0			c.G8442A						.						73.0	66.0	68.0					2																	238249117		2203	4300	6503	SO:0001819	synonymous_variant	1293	exon38			CAACAGCCTCCCG	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.8442G>A	chr2.hg19:g.238249117C>T		19.0	0.0		46.0	20.0	NM_004369	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	hg19	CCDS33412.1																																																																																			.	.		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
CNTN6	27255	hgsc.bcm.edu	37	3	1371531	1371532	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:1371531_1371532GA>AT	ENST00000446702.2	+	11	1903_1904	c.1276_1277GA>AT	c.(1276-1278)GAt>ATt	p.D426I	CNTN6_ENST00000539053.1_Missense_Mutation_p.D354I|CNTN6_ENST00000350110.2_Missense_Mutation_p.D426I			Q9UQ52	CNTN6_HUMAN	contactin 6	426	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.D426N(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGTTGGTGGGGATATTGTTATC	0.371																																					p.D426N|p.D426V		Atlas-SNP	.											CNTN6,colon,carcinoma,0,1|.	CNTN6	245	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1276A|c.A1277T						.																																			SO:0001583	missense	27255	exon11			GGTGGGGATATTG|GTGGGGATATTGT	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	Exception_encountered	chr3.hg19:g.1371531_1371532delinsAT	ENSP00000407822:p.Asp426Ile	142.0|143.0	1.0|0.0		436.0|442.0	26.0	NM_014461	Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	hg19	CCDS2557.1																																																																																			.	.		0.371	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
ITPR1	3708	hgsc.bcm.edu	37	3	4732940	4732940	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:4732940G>A	ENST00000443694.2	+	29	3896	c.3896G>A	c.(3895-3897)cGg>cAg	p.R1299Q	ITPR1_ENST00000423119.2_Missense_Mutation_p.R1305Q|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1314Q|ITPR1_ENST00000302640.8_Missense_Mutation_p.R1299Q|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1305Q|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1290Q			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1314					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	ACTCACGGTCGGAATGTCCAG	0.408																																					p.R1305Q		Atlas-SNP	.											.	ITPR1	659	.	0			c.G3914A						.						89.0	87.0	88.0					3																	4732940		1917	4149	6066	SO:0001583	missense	3708	exon32			ACGGTCGGAATGT	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3896G>A	chr3.hg19:g.4732940G>A	ENSP00000401671:p.Arg1299Gln	97.0	0.0		319.0	23.0	NM_001099952	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	hg19	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	34	5.351730	0.95830	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.24	5.24	0.73138	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.98229	0.9414	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.72982	0.968;0.979	D	0.98763	1.0725	10	0.56958	D	0.05	.	18.8583	0.92262	0.0:0.0:1.0:0.0	.	1314;1305	Q14643;G5E9P1	ITPR1_HUMAN;.	Q	1314;1299;1314;1305;1305;1290;1299	ENSP00000306253:R1299Q;ENSP00000346595:R1314Q;ENSP00000405934:R1305Q;ENSP00000349597:R1305Q;ENSP00000397885:R1290Q;ENSP00000401671:R1299Q	ENSP00000306253:R1299Q	R	+	2	0	ITPR1	4707940	1.000000	0.71417	0.849000	0.33467	0.941000	0.58515	9.778000	0.99011	2.437000	0.82529	0.655000	0.94253	CGG	.	.		0.408	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
BRPF1	7862	hgsc.bcm.edu	37	3	9776191	9776191	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:9776191G>A	ENST00000457855.1	+	1	378	c.367G>A	c.(367-369)Gag>Aag	p.E123K	BRPF1_ENST00000433861.2_Missense_Mutation_p.E123K|BRPF1_ENST00000424362.1_Missense_Mutation_p.E123K|BRPF1_ENST00000383829.2_Missense_Mutation_p.E123K|BRPF1_ENST00000302054.3_Missense_Mutation_p.E123K			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	123	Interaction with KAT6A and KAT6B.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GTCAGAGGATGAGGAAGCCCC	0.562																																					p.E123K		Atlas-SNP	.											.	BRPF1	104	.	0			c.G367A						.						82.0	85.0	84.0					3																	9776191		2203	4300	6503	SO:0001583	missense	7862	exon2			GAGGATGAGGAAG	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.367G>A	chr3.hg19:g.9776191G>A	ENSP00000410210:p.Glu123Lys	65.0	0.0		154.0	20.0	NM_001003694	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	hg19	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350093	0.95830	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.73	5.73	0.89815	Enhancer of polycomb-like, N-terminal (1);	0.145914	0.64402	D	0.000007	T	0.61148	0.2324	L	0.48362	1.52	0.80722	D	1	P;B;B;P	0.48016	0.904;0.384;0.226;0.582	P;B;B;P	0.57548	0.823;0.419;0.343;0.7	T	0.60622	-0.7227	10	0.66056	D	0.02	.	19.4877	0.95037	0.0:0.0:1.0:0.0	.	123;123;123;123	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	K	123	ENSP00000402485:E123K;ENSP00000398863:E123K;ENSP00000373340:E123K;ENSP00000306297:E123K;ENSP00000410210:E123K	ENSP00000306297:E123K	E	+	1	0	BRPF1	9751191	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.476000	0.97823	2.709000	0.92574	0.563000	0.77884	GAG	.	.		0.562	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
ATP2B2	491	hgsc.bcm.edu	37	3	10401567	10401567	+	Splice_Site	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:10401567T>C	ENST00000352432.4	-	12	1969	c.1900A>G	c.(1900-1902)Aag>Gag	p.K634E	ATP2B2_ENST00000360273.2_Splice_Site_p.K634E|ATP2B2_ENST00000397077.1_Splice_Site_p.K589E|ATP2B2_ENST00000383800.4_Splice_Site_p.K589E|ATP2B2_ENST00000343816.4_Splice_Site_p.K620E			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	634					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						AGCGCTTACTTCTTGAGCACG	0.622																																					p.K634E	Ovarian(125;1619 1709 15675 19819 38835)	Atlas-SNP	.											.	ATP2B2	304	.	0			c.A1900G						.						65.0	61.0	62.0					3																	10401567		2203	4300	6503	SO:0001630	splice_region_variant	491	exon13			CTTACTTCTTGAG	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.1901+1A>G	chr3.hg19:g.10401567T>C		40.0	0.0		80.0	5.0	NM_001001331	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	hg19	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.940928	0.92526	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.86	4.86	0.63082	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.82949	0.5148	M	0.74467	2.265	0.80722	D	1	D;P;P	0.63046	0.992;0.863;0.784	D;P;P	0.74674	0.984;0.589;0.672	D	0.85330	0.1089	10	0.72032	D	0.01	-27.9035	14.4662	0.67485	0.0:0.0:0.0:1.0	.	569;601;634	F5H7F7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	E	634;589;589;634;620;569;490;634	ENSP00000324172:K634E;ENSP00000373311:K589E;ENSP00000380267:K589E;ENSP00000353414:K634E;ENSP00000344677:K620E;ENSP00000414854:K490E	ENSP00000342954:K634E	K	-	1	0	ATP2B2	10376567	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	8.026000	0.88783	1.816000	0.52996	0.443000	0.29094	AAG	.	.		0.622	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	Missense_Mutation
ATP2B2	491	hgsc.bcm.edu	37	3	10443888	10443888	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:10443888C>A	ENST00000352432.4	-	3	611	c.542G>T	c.(541-543)gGc>gTc	p.G181V	ATP2B2_ENST00000360273.2_Missense_Mutation_p.G181V|ATP2B2_ENST00000397077.1_Missense_Mutation_p.G181V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G181V|ATP2B2_ENST00000343816.4_Missense_Mutation_p.G181V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	181					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCTCTGCAGGCCCCGGAACTG	0.592																																					p.G181V	Ovarian(125;1619 1709 15675 19819 38835)	Atlas-SNP	.											.	ATP2B2	304	.	0			c.G542T						.						131.0	142.0	138.0					3																	10443888		2203	4300	6503	SO:0001583	missense	491	exon4			TGCAGGCCCCGGA	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.542G>T	chr3.hg19:g.10443888C>A	ENSP00000324172:p.Gly181Val	34.0	0.0		99.0	14.0	NM_001683	O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	hg19	CCDS33701.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.013607	0.93404	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.88586	-2.4;-2.4;-2.4;-2.4;-2.4;-2.4	5.44	5.44	0.79542	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.92935	0.7752	L	0.47078	1.49	0.80722	D	1	D;D;P	0.89917	1.0;0.991;0.946	D;D;P	0.97110	1.0;0.937;0.672	D	0.93482	0.6828	10	0.87932	D	0	-36.5231	19.2768	0.94034	0.0:1.0:0.0:0.0	.	181;193;181	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	V	181;181;181;181;181;147;68;181	ENSP00000324172:G181V;ENSP00000373311:G181V;ENSP00000380267:G181V;ENSP00000353414:G181V;ENSP00000344677:G181V;ENSP00000414854:G68V	ENSP00000342954:G181V	G	-	2	0	ATP2B2	10418888	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.550000	0.86006	0.467000	0.42956	GGC	.	.		0.592	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	NM_001683	
RFTN1	23180	hgsc.bcm.edu	37	3	16368288	16368288	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:16368288C>T	ENST00000334133.4	-	8	1514	c.1242G>A	c.(1240-1242)aaG>aaA	p.K414K	RFTN1_ENST00000432519.1_Silent_p.K378K|OXNAD1_ENST00000605932.1_Intron|OXNAD1_ENST00000435829.2_Intron|OXNAD1_ENST00000606098.1_Intron|RFTN1_ENST00000483671.1_5'UTR|OXNAD1_ENST00000544043.1_Intron	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	414					B cell receptor signaling pathway (GO:0050853)|dsRNA transport (GO:0033227)|growth (GO:0040007)|interleukin-17 production (GO:0032620)|membrane raft assembly (GO:0001765)|protein localization to membrane raft (GO:1903044)|protein transport into membrane raft (GO:0032596)|response to exogenous dsRNA (GO:0043330)|T cell antigen processing and presentation (GO:0002457)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 3 signaling pathway (GO:0034138)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	double-stranded RNA binding (GO:0003725)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						ACCTGGTAGTCTTGACGACGG	0.488																																					p.K414K		Atlas-SNP	.											.	RFTN1	79	.	0			c.G1242A						.						63.0	54.0	57.0					3																	16368288		2203	4300	6503	SO:0001819	synonymous_variant	23180	exon8			GGTAGTCTTGACG	D42043	CCDS33712.1	3p24.3	2010-04-09			ENSG00000131378	ENSG00000131378			30278	protein-coding gene	gene with protein product	"""raft-linking protein"""					7788527, 12805216	Standard	NM_015150		Approved	MIG2, KIAA0084, FLJ23866, Raftlin	uc003cay.3	Q14699	OTTHUMG00000156973	ENST00000334133.4:c.1242G>A	chr3.hg19:g.16368288C>T		28.0	0.0		61.0	4.0	NM_015150	Q0D2G0|Q496Y2|Q4QQI7|Q5JB48|Q7Z7P2	Silent	SNP	ENST00000334133.4	hg19	CCDS33712.1																																																																																			.	.		0.488	RFTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346908.1	NM_015150	
TRIM71	131405	hgsc.bcm.edu	37	3	32915309	32915309	+	Splice_Site	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:32915309G>A	ENST00000383763.5	+	2	915		c.e2-1			NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|miRNA metabolic process (GO:0010586)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neural tube closure (GO:0001843)|neural tube development (GO:0021915)|positive regulation of gene silencing by miRNA (GO:2000637)|protein autoubiquitination (GO:0051865)|regulation of gene silencing by miRNA (GO:0060964)|regulation of neural precursor cell proliferation (GO:2000177)|stem cell proliferation (GO:0072089)	cytoplasmic mRNA processing body (GO:0000932)	ligase activity (GO:0016874)|miRNA binding (GO:0035198)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTTGTCCCCAGGTGCTGCACC	0.592																																					.		Atlas-SNP	.											.	TRIM71	73	.	0			c.853-1G>A						.						301.0	312.0	308.0					3																	32915309		2116	4231	6347	SO:0001630	splice_region_variant	131405	exon2			TCCCCAGGTGCTG		CCDS43060.1	3p22.3	2014-02-17	2012-02-29		ENSG00000206557	ENSG00000206557		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	32669	protein-coding gene	gene with protein product			"""tripartite motif-containing 71"", ""tripartite motif containing 71"""				Standard	NM_001039111		Approved	LIN41, LIN-41	uc003cff.3	Q2Q1W2	OTTHUMG00000155778	ENST00000383763.5:c.853-1G>A	chr3.hg19:g.32915309G>A		103.0	0.0		214.0	13.0	NM_001039111		Splice_Site	SNP	ENST00000383763.5	hg19	CCDS43060.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606327	0.87157	.	.	ENSG00000206557	ENST00000383763	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3848	0.90463	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM71	32890313	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	9.751000	0.98889	2.769000	0.95229	0.655000	0.94253	.	.	.		0.592	TRIM71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341565.3	NM_001039111	Intron
GLB1	2720	hgsc.bcm.edu	37	3	33106973	33106973	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:33106973C>T	ENST00000307377.8	-	3	382	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	GLB1_ENST00000445488.2_Silent_p.G226G|GLB1_ENST00000307363.5_Silent_p.G178G|GLB1_ENST00000399402.3_Silent_p.G148G	NM_001135602.1	NP_001129074	P16278	BGAL_HUMAN	galactosidase, beta 1	0					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTATAACTGGCCCTCCATTCT	0.468																																					p.A108T		Atlas-SNP	.											.	GLB1	51	.	0			c.G322A						.						57.0	63.0	61.0					3																	33106973		1941	4117	6058	SO:0001583	missense	2720	exon3			AACTGGCCCTCCA	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000307377.8:c.322G>A	chr3.hg19:g.33106973C>T	ENSP00000305920:p.Ala108Thr	122.0	0.0		339.0	42.0	NM_001135602	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	ENST00000307377.8	hg19	CCDS46785.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500002	0.44455	.	.	ENSG00000170266	ENST00000307377	D	0.97924	-4.61	6.01	-1.38	0.09027	.	.	.	.	.	D	0.93419	0.7901	.	.	.	0.80722	D	1	B	0.21071	0.051	B	0.19946	0.027	T	0.82786	-0.0285	8	0.54805	T	0.06	-19.1601	1.3747	0.02218	0.1315:0.2644:0.2826:0.3215	.	108	E7EQ29	.	T	108	ENSP00000305920:A108T	ENSP00000305920:A108T	A	-	1	0	GLB1	33081977	0.003000	0.15002	0.825000	0.32803	0.980000	0.70556	-1.147000	0.03188	-0.611000	0.05709	0.650000	0.86243	GCC	.	.		0.468	GLB1-003	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341571.1	NM_000404	
DLEC1	9940	hgsc.bcm.edu	37	3	38135225	38135225	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:38135225C>T	ENST00000308059.6	+	12	1907	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M	DLEC1_ENST00000452631.2_Missense_Mutation_p.T629M|DLEC1_ENST00000346219.3_Missense_Mutation_p.T629M					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTCGGTCCACGGCTAGGAAG	0.502																																					p.T629M		Atlas-SNP	.											.	DLEC1	278	.	0			c.C1886T						.						123.0	124.0	123.0					3																	38135225		1909	4135	6044	SO:0001583	missense	9940	exon12			GGTCCACGGCTAG	AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.1886C>T	chr3.hg19:g.38135225C>T	ENSP00000308597:p.Thr629Met	70.0	0.0		184.0	18.0	NM_007337		Missense_Mutation	SNP	ENST00000308059.6	hg19	CCDS2672.2	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180990	0.38511	.	.	ENSG00000008226	ENST00000308059;ENST00000346219;ENST00000452631	T;T;T	0.05996	3.37;3.36;3.6	5.08	3.25	0.37280	.	0.239343	0.42420	D	0.000702	T	0.07548	0.0190	L	0.53249	1.67	0.09310	N	0.999999	D;D;D	0.56521	0.976;0.976;0.976	P;B;P	0.44673	0.457;0.356;0.457	T	0.25745	-1.0123	10	0.34782	T	0.22	-12.8453	6.5019	0.22174	0.0:0.7237:0.0:0.2763	.	629;629;629	F8W6T4;Q9Y238-3;Q9Y238	.;.;DLEC1_HUMAN	M	629	ENSP00000308597:T629M;ENSP00000315914:T629M;ENSP00000410427:T629M	ENSP00000308597:T629M	T	+	2	0	DLEC1	38110229	0.020000	0.18652	0.645000	0.29479	0.974000	0.67602	1.115000	0.31209	1.096000	0.41439	0.655000	0.94253	ACG	.	.		0.502	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253745.3	NM_007337	
TTC21A	199223	hgsc.bcm.edu	37	3	39171742	39171742	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:39171742G>T	ENST00000431162.2	+	17	2367	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*	TTC21A_ENST00000301819.6_Nonsense_Mutation_p.E746*|TTC21A_ENST00000440121.1_Nonsense_Mutation_p.E697*			Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	745										NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCACCAGCCCGAGAAGGCCCT	0.582																																					p.E745X		Atlas-SNP	.											.	TTC21A	96	.	0			c.G2233T						.						44.0	45.0	45.0					3																	39171742		1914	4118	6032	SO:0001587	stop_gained	199223	exon17			CAGCCCGAGAAGG	AJ487015	CCDS43068.1, CCDS46800.1, CCDS43068.2	3p22.2	2014-09-04			ENSG00000168026	ENSG00000168026		"""Tetratricopeptide (TTC) repeat domain containing"""	30761	protein-coding gene	gene with protein product		611430					Standard	NM_145755		Approved	STI2	uc003cjc.2	Q8NDW8	OTTHUMG00000155973	ENST00000431162.2:c.2233G>T	chr3.hg19:g.39171742G>T	ENSP00000398211:p.Glu745*	49.0	0.0		128.0	25.0	NM_145755	A1L388|B4DYF6|B4DYJ3|D3YTE7|D4PHA5|Q6P5W8|Q8N7G5|Q8NA02	Nonsense_Mutation	SNP	ENST00000431162.2	hg19	CCDS46800.1	.	.	.	.	.	.	.	.	.	.	G	38	7.162369	0.98107	.	.	ENSG00000168026	ENST00000301819;ENST00000424305;ENST00000431162;ENST00000440121	.	.	.	4.85	4.85	0.62838	.	0.159354	0.38217	N	0.001765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-28.9477	17.1263	0.86715	0.0:0.0:1.0:0.0	.	.	.	.	X	746;728;745;697	.	ENSP00000301819:E746X	E	+	1	0	TTC21A	39146746	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.872000	0.75536	2.414000	0.81942	0.563000	0.77884	GAG	.	.		0.582	TTC21A-021	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377829.1	NM_145755	
CTNNB1	1499	hgsc.bcm.edu	37	3	41268766	41268766	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:41268766A>T	ENST00000349496.5	+	7	1284	c.1004A>T	c.(1003-1005)aAa>aTa	p.K335I	CTNNB1_ENST00000453024.1_Missense_Mutation_p.K328I|CTNNB1_ENST00000396183.3_Missense_Mutation_p.K335I|CTNNB1_ENST00000405570.1_Missense_Mutation_p.K335I|CTNNB1_ENST00000396185.3_Missense_Mutation_p.K335I	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	335					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.K335I(8)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ACTTACGAAAAACTACTGTGG	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.K335I	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	CTNNB1,colon,carcinoma,-1,11	CTNNB1	4904	.	8	Substitution - Missense(8)	liver(7)|kidney(1)	c.A1004T						.						110.0	108.0	109.0					3																	41268766		2203	4300	6503	SO:0001583	missense	1499	exon7	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	ACGAAAAACTACT	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1004A>T	chr3.hg19:g.41268766A>T	ENSP00000344456:p.Lys335Ile	68.0	0.0		138.0	10.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.040885	0.93685	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.82148	0.4974	M	0.89287	3.02	0.80722	D	1	D;D	0.71674	0.995;0.998	D;D	0.75484	0.97;0.986	D	0.85830	0.1391	10	0.72032	D	0.01	-3.7939	15.5934	0.76558	1.0:0.0:0.0:0.0	.	263;335	B4DSW9;P35222	.;CTNB1_HUMAN	I	335;335;335;328;335	ENSP00000385604:K335I;ENSP00000379486:K335I;ENSP00000344456:K335I;ENSP00000411226:K328I;ENSP00000379488:K335I	ENSP00000344456:K335I	K	+	2	0	CTNNB1	41243770	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	9.339000	0.96797	2.094000	0.63399	0.482000	0.46254	AAA	.	.		0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CTNNB1	1499	hgsc.bcm.edu	37	3	41275047	41275047	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:41275047C>T	ENST00000349496.5	+	9	1493	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	CTNNB1_ENST00000453024.1_Missense_Mutation_p.L398F|CTNNB1_ENST00000396183.3_Missense_Mutation_p.L405F|CTNNB1_ENST00000405570.1_Missense_Mutation_p.L405F|CTNNB1_ENST00000396185.3_Missense_Mutation_p.L405F	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	405					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CCTTGGGACTCTTGTTCAGCT	0.418		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												p.L405F	Colon(6;3 56 14213 18255)	Atlas-SNP	.		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	.	CTNNB1	4904	.	0			c.C1213T						.						150.0	143.0	146.0					3																	41275047		2203	4300	6503	SO:0001583	missense	1499	exon9	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	GGGACTCTTGTTC	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.1213C>T	chr3.hg19:g.41275047C>T	ENSP00000344456:p.Leu405Phe	51.0	0.0		110.0	6.0	NM_001098209	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	hg19	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.939289	0.92526	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14;-1.14	5.86	5.86	0.93980	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	M	0.91090	3.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	D	0.92265	0.5820	10	0.87932	D	0	-0.542	20.1865	0.98220	0.0:1.0:0.0:0.0	.	333;398;405	B4DSW9;B4DGU4;P35222	.;.;CTNB1_HUMAN	F	405;405;405;398;405	ENSP00000385604:L405F;ENSP00000379486:L405F;ENSP00000344456:L405F;ENSP00000411226:L398F;ENSP00000379488:L405F	ENSP00000344456:L405F	L	+	1	0	CTNNB1	41250051	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.775000	0.95449	0.655000	0.94253	CTT	.	.		0.418	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
CDCP1	64866	hgsc.bcm.edu	37	3	45153871	45153871	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:45153871G>C	ENST00000296129.1	-	3	493	c.359C>G	c.(358-360)aCc>aGc	p.T120S	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.T120S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	120						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTGTTGAGGGTAGGCAACAA	0.498																																					p.T120S		Atlas-SNP	.											.	CDCP1	61	.	0			c.C359G						.						177.0	184.0	181.0					3																	45153871		2203	4300	6503	SO:0001583	missense	64866	exon3			TTGAGGGTAGGCA	AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.359C>G	chr3.hg19:g.45153871G>C	ENSP00000296129:p.Thr120Ser	64.0	0.0		121.0	57.0	NM_178181	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Missense_Mutation	SNP	ENST00000296129.1	hg19	CCDS2727.1	.	.	.	.	.	.	.	.	.	.	G	0.023	-1.396493	0.01175	.	.	ENSG00000163814	ENST00000296129;ENST00000425231	T;T	0.40756	2.05;1.02	5.6	1.62	0.23740	.	1.693290	0.02601	N	0.101072	T	0.24547	0.0595	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.12941	-1.0528	10	0.08381	T	0.77	.	3.7598	0.08599	0.154:0.3891:0.347:0.11	.	120;120	Q9H5V8-3;Q9H5V8	.;CDCP1_HUMAN	S	120	ENSP00000296129:T120S;ENSP00000399342:T120S	ENSP00000296129:T120S	T	-	2	0	CDCP1	45128875	0.586000	0.26782	0.006000	0.13384	0.089000	0.18198	1.019000	0.30014	0.010000	0.14839	0.563000	0.77884	ACC	.	.		0.498	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256748.3	NM_022842	
TRAIP	10293	hgsc.bcm.edu	37	3	49867199	49867199	+	Splice_Site	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:49867199C>T	ENST00000331456.2	-	13	1200	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	TRAIP_ENST00000469027.1_Splice_Site_p.E208K	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	363	Interaction with CYLD.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCTGGGACTCCTGCAGGGAA	0.567																																					p.E363K		Atlas-SNP	.											.	TRAIP	47	.	0			c.G1087A						.						31.0	31.0	31.0					3																	49867199		2203	4300	6503	SO:0001630	splice_region_variant	10293	exon13			GGGACTCCTGCAG	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.1087-1G>A	chr3.hg19:g.49867199C>T		31.0	0.0		95.0	9.0	NM_005879	B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	hg19	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	C	12.13	1.844797	0.32606	.	.	ENSG00000183763	ENST00000331456;ENST00000469027	T	0.44881	0.91	5.08	4.21	0.49690	.	0.512387	0.20570	N	0.089742	T	0.31071	0.0785	L	0.51422	1.61	0.35350	D	0.787276	B;B	0.18610	0.001;0.029	B;B	0.14023	0.002;0.01	T	0.24835	-1.0149	10	0.06236	T	0.91	-14.4236	9.2917	0.37791	0.0:0.9033:0.0:0.0967	.	363;363	A8K807;Q9BWF2	.;TRAIP_HUMAN	K	363;208	ENSP00000420085:E208K	ENSP00000328203:E363K	E	-	1	0	TRAIP	49842203	0.998000	0.40836	0.993000	0.49108	0.134000	0.20937	1.262000	0.32992	1.376000	0.46267	0.561000	0.74099	GAG	.	.		0.567	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879	Missense_Mutation
NAT6	24142	hgsc.bcm.edu	37	3	50334446	50334446	+	Missense_Mutation	SNP	C	C	A	rs587623768		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:50334446C>A	ENST00000443842.1	-	2	1256	c.449G>T	c.(448-450)cGt>cTt	p.R150L	NAT6_ENST00000443094.2_Missense_Mutation_p.R150L|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000336307.1_Intron|NAT6_ENST00000354862.4_Missense_Mutation_p.R172L|HYAL3_ENST00000359051.3_Intron|NAT6_ENST00000417393.1_Missense_Mutation_p.R150L|HYAL3_ENST00000450982.1_Intron			Q93015	NAT6_HUMAN	N-acetyltransferase 6 (GCN5-related)	150	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)	N-acetyltransferase activity (GO:0008080)			endometrium(3)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCAAAGCCACGGCCCCTCAG	0.672																																					p.R172L		Atlas-SNP	.											.	NAT6	14	.	0			c.G515T						.						9.0	11.0	11.0					3																	50334446		1766	3964	5730	SO:0001583	missense	24142	exon2			AAGCCACGGCCCC	AF040705	CCDS43095.1, CCDS56258.1	3p21.3	2011-11-16	2008-09-24		ENSG00000243477	ENSG00000243477	2.3.1.-		30252	protein-coding gene	gene with protein product		607073	"""N-acetyltransferase 6"""			11929860, 11085536	Standard	NM_012191		Approved	FUS2		Q93015	OTTHUMG00000156939	ENST00000443842.1:c.449G>T	chr3.hg19:g.50334446C>A	ENSP00000400559:p.Arg150Leu	9.0	0.0		30.0	10.0	NM_012191	Q93014	Missense_Mutation	SNP	ENST00000443842.1	hg19	CCDS56258.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224609	0.79576	.	.	ENSG00000243477	ENST00000354862;ENST00000417393;ENST00000443094;ENST00000443842	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.8	2.65	0.31530	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.420201	0.17152	U	0.185023	T	0.32645	0.0836	L	0.46614	1.455	0.33569	D	0.598331	D;D	0.63046	0.99;0.992	P;P	0.59948	0.79;0.866	T	0.46582	-0.9181	10	0.66056	D	0.02	0.8591	3.2491	0.06807	0.0:0.4812:0.2117:0.3071	.	172;150	Q93015-2;Q93015	.;NAT6_HUMAN	L	172;150;150;150	ENSP00000346927:R172L;ENSP00000391893:R150L;ENSP00000410610:R150L;ENSP00000400559:R150L	ENSP00000346927:R172L	R	-	2	0	NAT6	50309450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.079000	0.30766	0.798000	0.33994	0.655000	0.94253	CGT	.	.		0.672	NAT6-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346681.1	NM_012191	
TMEM115	11070	hgsc.bcm.edu	37	3	50395815	50395815	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:50395815A>T	ENST00000266025.3	-	1	1226	c.680T>A	c.(679-681)tTc>tAc	p.F227Y	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	227					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTCAGGGAAGAAAGTGGCGAA	0.567																																					p.F227Y		Atlas-SNP	.											.	TMEM115	20	.	0			c.T680A						.						98.0	95.0	96.0					3																	50395815		2203	4300	6503	SO:0001583	missense	11070	exon1			GGGAAGAAAGTGG	BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.680T>A	chr3.hg19:g.50395815A>T	ENSP00000266025:p.Phe227Tyr	55.0	0.0		121.0	9.0	NM_007024	A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	ENST00000266025.3	hg19	CCDS2828.1	.	.	.	.	.	.	.	.	.	.	A	30	5.053497	0.93793	.	.	ENSG00000126062	ENST00000266025	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.78291	0.4260	M	0.71581	2.175	0.80722	D	1	D	0.63880	0.993	D	0.74674	0.984	T	0.80756	-0.1240	9	0.87932	D	0	1.0E-4	15.788	0.78322	1.0:0.0:0.0:0.0	.	227	Q12893	TM115_HUMAN	Y	227	.	ENSP00000266025:F227Y	F	-	2	0	TMEM115	50370819	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.069000	0.93967	2.200000	0.70718	0.460000	0.39030	TTC	.	.		0.567	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102784.3	NM_007024	
STAB1	23166	hgsc.bcm.edu	37	3	52549455	52549455	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:52549455G>T	ENST00000321725.6	+	37	3957	c.3881G>T	c.(3880-3882)aGc>aTc	p.S1294I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1294					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|oxidation-reduction process (GO:0055114)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|protein disulfide oxidoreductase activity (GO:0015035)|scavenger receptor activity (GO:0005044)			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCCAGGAAGAGCTGTGTCTAC	0.607																																					p.S1294I		Atlas-SNP	.											.	STAB1	178	.	0			c.G3881T						.						76.0	71.0	73.0					3																	52549455		2202	4300	6502	SO:0001583	missense	23166	exon37			GGAAGAGCTGTGT	AJ275213	CCDS33768.1	3p21.31	2008-07-18			ENSG00000010327	ENSG00000010327			18628	protein-coding gene	gene with protein product	"""MS-1 antigen"", ""fasciclin egf-like, laminin-type egf-like, and link domain-containing scavenger receptor-1"", ""common lymphatic endothelial and vascular endothelial receptor-1"""	608560				11829752, 12077138	Standard	XM_005264973		Approved	KIAA0246, STAB-1, FEEL-1, CLEVER-1, FELE-1, FEX1	uc003dej.3	Q9NY15	OTTHUMG00000158574	ENST00000321725.6:c.3881G>T	chr3.hg19:g.52549455G>T	ENSP00000312946:p.Ser1294Ile	39.0	0.0		106.0	16.0	NM_015136	A7E297|Q8IUH0|Q8IUH1|Q93072	Missense_Mutation	SNP	ENST00000321725.6	hg19	CCDS33768.1	.	.	.	.	.	.	.	.	.	.	G	17.02	3.281890	0.59758	.	.	ENSG00000010327	ENST00000321725	T	0.03152	4.03	4.71	3.83	0.44106	.	0.269718	0.34879	N	0.003614	T	0.05593	0.0147	N	0.17474	0.49	0.39755	D	0.971946	D	0.69078	0.997	P	0.62014	0.897	T	0.56890	-0.7904	10	0.20046	T	0.44	-28.4682	8.8676	0.35296	0.1024:0.0:0.8976:0.0	.	1294	Q9NY15	STAB1_HUMAN	I	1294	ENSP00000312946:S1294I	ENSP00000312946:S1294I	S	+	2	0	STAB1	52524495	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	3.320000	0.51991	1.327000	0.45338	0.563000	0.77884	AGC	.	.		0.607	STAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351380.2	NM_015136	
PBRM1	55193	hgsc.bcm.edu	37	3	52588770	52588770	+	Missense_Mutation	SNP	C	C	A	rs143564112	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:52588770C>A	ENST00000296302.7	-	27	4580	c.4579G>T	c.(4579-4581)Gtg>Ttg	p.V1527L	RNU6-856P_ENST00000516959.1_RNA|PBRM1_ENST00000337303.4_Intron|PBRM1_ENST00000410007.1_Missense_Mutation_p.V1447L|PBRM1_ENST00000409114.3_Intron|PBRM1_ENST00000409767.1_Intron|PBRM1_ENST00000409057.1_Missense_Mutation_p.V1472L|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Missense_Mutation_p.V1420L|PBRM1_ENST00000356770.4_Missense_Mutation_p.V1440L			Q86U86	PB1_HUMAN	polybromo 1	1527	Pro-rich.				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)		AGGCCAGGCACACCTGGCGGA	0.557			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.V1420L		Atlas-SNP	.		Rec	yes		3	3p21	55193	polybromo 1		E	PBRM1_ENST00000356770,NS,lymphoid_neoplasm,0,1	PBRM1	1252	.	0			c.G4258T						.						45.0	44.0	45.0					3																	52588770		2203	4300	6503	SO:0001583	missense	55193	exon27			CAGGCACACCTGG	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.4579G>T	chr3.hg19:g.52588770C>A	ENSP00000296302:p.Val1527Leu	82.0	0.0		250.0	12.0	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	C	13.52	2.262476	0.39995	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000409057;ENST00000410007	T;T;T;T;T	0.33216	1.42;1.42;1.46;1.43;1.42	5.62	3.58	0.41010	.	0.353225	0.30850	N	0.008759	T	0.13884	0.0336	N	0.08118	0	0.80722	D	1	B;B;B;B;B	0.06786	0.001;0.001;0.001;0.001;0.001	B;B;B;B;B	0.17722	0.005;0.003;0.005;0.001;0.019	T	0.06516	-1.0822	10	0.49607	T	0.09	-7.5268	4.2397	0.10642	0.0:0.6107:0.0:0.3893	.	1447;1420;1472;1527;1440	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86;Q86U86-3	.;.;.;PB1_HUMAN;.	L	1440;1420;1527;1472;1447	ENSP00000349213:V1440L;ENSP00000378307:V1420L;ENSP00000296302:V1527L;ENSP00000386593:V1472L;ENSP00000386529:V1447L	ENSP00000296302:V1527L	V	-	1	0	PBRM1	52563810	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.917000	0.56424	1.348000	0.45733	0.563000	0.77884	GTG	.	C|0.999;T|0.001		0.557	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
PBRM1	55193	hgsc.bcm.edu	37	3	52662939	52662939	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:52662939G>A	ENST00000296302.7	-	12	1415	c.1414C>T	c.(1414-1416)Cga>Tga	p.R472*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R472*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R472*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R472*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R472*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R472*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R472*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R440*			Q86U86	PB1_HUMAN	polybromo 1	472					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)		TTTAGAACTCGCTTGTAGATG	0.318			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																p.R472X		Atlas-SNP	.		Rec	yes		3	3p21	55193	polybromo 1		E	.	PBRM1	1252	.	0			c.C1414T						.						101.0	95.0	97.0					3																	52662939		2203	4300	6503	SO:0001587	stop_gained	55193	exon13			GAACTCGCTTGTA	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.1414C>T	chr3.hg19:g.52662939G>A	ENSP00000296302:p.Arg472*	75.0	0.0		138.0	8.0	NM_018313	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	hg19		.	.	.	.	.	.	.	.	.	.	G	37	6.182101	0.97352	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.4	1.45	0.22620	.	0.136047	0.50627	D	0.000116	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-21.0362	11.5495	0.50713	0.0:0.1018:0.3723:0.5259	.	.	.	.	X	440;472;472;472;472;472;472;472;472;416	.	ENSP00000296302:R472X	R	-	1	2	PBRM1	52637979	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	2.206000	0.42779	-0.016000	0.14127	-0.309000	0.09137	CGA	.	.		0.318	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
PTPRG	5793	hgsc.bcm.edu	37	3	61975392	61975392	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:61975392T>C	ENST00000474889.1	+	3	661	c.284T>C	c.(283-285)gTt>gCt	p.V95A	PTPRG_ENST00000295874.10_Missense_Mutation_p.V95A	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	95	Alpha-carbonic anhydrase.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TATGCGCGTGTTGGGGAAGAA	0.493																																					p.V95A		Atlas-SNP	.											.	PTPRG	153	.	0			c.T284C						.						119.0	109.0	112.0					3																	61975392		2203	4300	6503	SO:0001583	missense	5793	exon3			CGCGTGTTGGGGA	L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.284T>C	chr3.hg19:g.61975392T>C	ENSP00000418112:p.Val95Ala	81.0	0.0		124.0	18.0	NM_002841	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	ENST00000474889.1	hg19	CCDS2895.1	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707702	0.68615	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.67171	-0.25;-0.25	5.92	5.92	0.95590	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.359047	0.29300	N	0.012560	T	0.66934	0.2840	L	0.52011	1.625	0.52501	D	0.999954	P;P	0.44429	0.835;0.517	B;B	0.43889	0.435;0.226	T	0.71237	-0.4652	10	0.87932	D	0	.	16.3413	0.83082	0.0:0.0:0.0:1.0	.	95;95	P23470-2;P23470	.;PTPRG_HUMAN	A	95	ENSP00000418112:V95A;ENSP00000295874:V95A	ENSP00000295874:V95A	V	+	2	0	PTPRG	61950432	1.000000	0.71417	0.107000	0.21349	0.943000	0.58893	7.642000	0.83385	2.257000	0.74773	0.533000	0.62120	GTT	.	.		0.493	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351674.1	NM_002841	
ROBO2	6092	hgsc.bcm.edu	37	3	77614146	77614146	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:77614146T>C	ENST00000461745.1	+	12	2624	c.1724T>C	c.(1723-1725)gTa>gCa	p.V575A	ROBO2_ENST00000487694.3_Missense_Mutation_p.V591A|ROBO2_ENST00000332191.8_Missense_Mutation_p.V575A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	575	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAAACCATGTAAAGACCACC	0.463																																					p.V575A		Atlas-SNP	.											.	ROBO2	527	.	0			c.T1724C						.						78.0	76.0	77.0					3																	77614146		1976	4165	6141	SO:0001583	missense	6092	exon12			ACCATGTAAAGAC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1724T>C	chr3.hg19:g.77614146T>C	ENSP00000417164:p.Val575Ala	33.0	0.0		68.0	18.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	T	17.39	3.378492	0.61735	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.54866	0.55;0.55;0.55	6.02	6.02	0.97574	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.41294	D	0.000907	T	0.70360	0.3215	M	0.79926	2.475	0.46416	D	0.999038	B;B;B	0.31256	0.316;0.098;0.316	P;P;P	0.47430	0.547;0.535;0.547	T	0.74163	-0.3754	9	0.87932	D	0	.	16.542	0.84395	0.0:0.0:0.0:1.0	.	591;575;575	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	A	591;591;595;575;575;296	ENSP00000417335:V591A;ENSP00000417164:V575A;ENSP00000327536:V575A	ENSP00000327536:V575A	V	+	2	0	ROBO2	77696836	1.000000	0.71417	0.668000	0.29813	0.394000	0.30568	6.258000	0.72487	2.304000	0.77564	0.528000	0.53228	GTA	.	.		0.463	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	hgsc.bcm.edu	37	3	77629195	77629195	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:77629195A>C	ENST00000461745.1	+	16	3326	c.2426A>C	c.(2425-2427)cAa>cCa	p.Q809P	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q825P|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q809P	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	809	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAGGTATTCAATACCGGGTA	0.448																																					p.Q809P		Atlas-SNP	.											.	ROBO2	527	.	0			c.A2426C						.						124.0	122.0	122.0					3																	77629195		1888	4118	6006	SO:0001583	missense	6092	exon16			GTATTCAATACCG	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.2426A>C	chr3.hg19:g.77629195A>C	ENSP00000417164:p.Gln809Pro	78.0	0.0		191.0	37.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	A	11.95	1.790591	0.31685	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.57436	0.4;0.4;0.4	5.53	5.53	0.82687	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.38492	U	0.001662	T	0.43500	0.1250	L	0.35414	1.06	0.42344	D	0.992343	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.16289	0.007;0.015;0.007	T	0.48115	-0.9063	9	0.30078	T	0.28	.	15.3169	0.74089	1.0:0.0:0.0:0.0	.	825;809;809	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	P	825;825;829;809;809;530	ENSP00000417335:Q825P;ENSP00000417164:Q809P;ENSP00000327536:Q809P	ENSP00000327536:Q809P	Q	+	2	0	ROBO2	77711885	1.000000	0.71417	0.996000	0.52242	0.989000	0.77384	3.750000	0.55157	2.095000	0.63458	0.460000	0.39030	CAA	.	.		0.448	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
ROBO2	6092	hgsc.bcm.edu	37	3	77651546	77651546	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:77651546G>A	ENST00000461745.1	+	20	3940	c.3040G>A	c.(3040-3042)Gat>Aat	p.D1014N	ROBO2_ENST00000487694.3_Missense_Mutation_p.D1030N|ROBO2_ENST00000332191.8_Missense_Mutation_p.D1014N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1014					apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATTGGCTGTCGATCTGCCTGA	0.423																																					p.D1014N		Atlas-SNP	.											ROBO2_ENST00000487694,NS,carcinoma,0,6	ROBO2	527	.	0			c.G3040A						.						116.0	108.0	110.0					3																	77651546		1964	4162	6126	SO:0001583	missense	6092	exon20			GCTGTCGATCTGC	AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.3040G>A	chr3.hg19:g.77651546G>A	ENSP00000417164:p.Asp1014Asn	87.0	0.0		269.0	12.0	NM_002942	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	hg19	CCDS43109.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.8|29.8	5.040614|5.040614	0.93630|0.93630	.|.	.|.	ENSG00000185008|ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191|ENST00000471893	T;T;T|.	0.64991|.	-0.13;-0.09;-0.08|.	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	0.000000|.	0.47455|.	D|.	0.000232|.	T|T	0.69178|0.69178	0.3082|0.3082	L|L	0.42245|0.42245	1.32|1.32	0.29415|.	N|.	0.860951|.	D;D;D|.	0.76494|.	0.998;0.999;0.997|.	P;P;P|.	0.62184|.	0.825;0.899;0.649|.	T|T	0.62756|0.62756	-0.6787|-0.6787	9|4	0.48119|.	T|.	0.1|.	.|.	20.1432|20.1432	0.98067|0.98067	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1030;1014;1014|.	Q19AB5;F8W703;Q9HCK4|.	.;.;ROBO2_HUMAN|.	N|Q	1030;1030;1034;1014;1014|88	ENSP00000417335:D1030N;ENSP00000417164:D1014N;ENSP00000327536:D1014N|.	ENSP00000327536:D1014N|.	D|R	+|+	1|2	0|0	ROBO2|ROBO2	77734236|77734236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.476000|9.476000	0.97823|0.97823	2.769000|2.769000	0.95229|0.95229	0.561000|0.561000	0.74099|0.74099	GAT|CGA	.	.		0.423	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
CADM2	253559	hgsc.bcm.edu	37	3	85984981	85984981	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:85984981G>T	ENST00000407528.2	+	6	800	c.738G>T	c.(736-738)ttG>ttT	p.L246F	CADM2_ENST00000383699.3_Missense_Mutation_p.L255F|CADM2_ENST00000405615.2_Missense_Mutation_p.L248F	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	246	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTTTAATTTTGACTTGTGAAT	0.308																																					p.L255F		Atlas-SNP	.											.	CADM2	195	.	0			c.G765T						.						96.0	102.0	100.0					3																	85984981		2203	4297	6500	SO:0001583	missense	253559	exon7			AATTTTGACTTGT	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.738G>T	chr3.hg19:g.85984981G>T	ENSP00000384575:p.Leu246Phe	126.0	0.0		393.0	34.0	NM_001167675	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	ENST00000407528.2	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.155619	0.78114	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	D;T;T	0.89415	-2.51;-1.48;-1.48	5.77	5.77	0.91146	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.92280	0.7551	L	0.43554	1.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	D	0.89344	0.3656	10	0.23302	T	0.38	.	19.9785	0.97317	0.0:0.0:1.0:0.0	.	248;255;246	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	F	255;246;248	ENSP00000373200:L255F;ENSP00000384575:L246F;ENSP00000384193:L248F	ENSP00000373200:L255F	L	+	3	2	CADM2	86067671	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.724000	0.93272	0.650000	0.86243	TTG	.	.		0.308	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	
CADM2	253559	hgsc.bcm.edu	37	3	86114753	86114753	+	Splice_Site	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:86114753A>G	ENST00000407528.2	+	9	1125		c.e9-1		CADM2_ENST00000383699.3_Splice_Site|CADM2_ENST00000405615.2_Splice_Site	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		TGTCTTTTCCAGATCCTAATG	0.368																																					.		Atlas-SNP	.											.	CADM2	195	.	0			c.1064-2A>G						.						134.0	122.0	126.0					3																	86114753		2203	4300	6503	SO:0001630	splice_region_variant	253559	exon9			TTTTCCAGATCCT	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1064-1A>G	chr3.hg19:g.86114753A>G		86.0	0.0		210.0	13.0	NM_001167674	G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Splice_Site	SNP	ENST00000407528.2	hg19	CCDS54614.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.622329	0.87460	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0708	0.80928	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CADM2	86197443	1.000000	0.71417	0.960000	0.40013	0.941000	0.58515	9.339000	0.96797	2.197000	0.70478	0.528000	0.53228	.	.	.		0.368	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184	Intron
EPHA6	285220	hgsc.bcm.edu	37	3	97202883	97202883	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:97202883T>C	ENST00000514100.1	+	7	598	c.356T>C	c.(355-357)aTt>aCt	p.I119T	EPHA6_ENST00000502694.1_Missense_Mutation_p.I119T|EPHA6_ENST00000389672.5_Missense_Mutation_p.I727T|EPHA6_ENST00000442602.2_Missense_Mutation_p.I93T	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	633	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						AGAATTCGTATTGAGAGAGTC	0.358																																					p.I727T		Atlas-SNP	.											.	EPHA6	439	.	0			c.T2180C						.						95.0	95.0	95.0					3																	97202883		1851	4110	5961	SO:0001583	missense	285220	exon10			TTCGTATTGAGAG	AK092565	CCDS46876.1, CCDS54616.1, CCDS63697.1	3q12.1	2013-02-11	2004-10-28		ENSG00000080224	ENSG00000080224		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19296	protein-coding gene	gene with protein product		600066				12471243	Standard	NM_001080448		Approved	FLJ35246	uc010how.1	Q9UF33	OTTHUMG00000159208	ENST00000514100.1:c.356T>C	chr3.hg19:g.97202883T>C	ENSP00000421711:p.Ile119Thr	76.0	0.0		177.0	11.0	NM_001080448	D6RAL5	Missense_Mutation	SNP	ENST00000514100.1	hg19		.	.	.	.	.	.	.	.	.	.	T	21.8	4.198363	0.79015	.	.	ENSG00000080224	ENST00000389672;ENST00000514100;ENST00000502694;ENST00000442602	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.42	5.42	0.78866	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.89389	0.6701	L	0.59967	1.855	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;0.996;1.0	D;D;D;D	0.91635	0.999;0.999;0.99;0.999	D	0.90503	0.4475	9	0.87932	D	0	.	15.5233	0.75881	0.0:0.0:0.0:1.0	.	93;632;119;119	B4DXQ6;Q9UF33;Q9UF33-2;D6RAL5	.;EPHA6_HUMAN;.;.	T	727;119;119;93	ENSP00000374323:I727T;ENSP00000421711:I119T;ENSP00000423950:I119T;ENSP00000403100:I93T	ENSP00000374323:I727T	I	+	2	0	EPHA6	98685573	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.695000	0.84257	2.071000	0.62044	0.454000	0.30748	ATT	.	.		0.358	EPHA6-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000359997.1	NM_001080448	
TRMT10C	54931	hgsc.bcm.edu	37	3	101283884	101283884	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:101283884G>A	ENST00000309922.6	+	2	413	c.259G>A	c.(259-261)Gat>Aat	p.D87N		NM_017819.2	NP_060289.2	Q7L0Y3	MRRP1_HUMAN	tRNA methyltransferase 10 homolog C (S. cerevisiae)	87					mitochondrial RNA 5'-end processing (GO:0000964)|tRNA processing (GO:0008033)	mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)										AAGCAGTAAGGATGAAGATCC	0.438																																					p.D87N		Atlas-SNP	.											.	.	.	.	0			c.G259A						.						117.0	108.0	111.0					3																	101283884		1907	4127	6034	SO:0001583	missense	54931	exon2			AGTAAGGATGAAG	AK000439	CCDS43122.1	3q12.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000174173	ENSG00000174173			26022	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 1"""	615423	"""RNA (guanine-9-) methyltransferase domain containing 1"""	RG9MTD1		18984158	Standard	NM_017819		Approved	FLJ20432, MRPP1	uc003duz.4	Q7L0Y3	OTTHUMG00000159114	ENST00000309922.6:c.259G>A	chr3.hg19:g.101283884G>A	ENSP00000312356:p.Asp87Asn	58.0	0.0		153.0	15.0	NM_017819	Q9NRG5|Q9NX54|Q9Y596	Missense_Mutation	SNP	ENST00000309922.6	hg19	CCDS43122.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.673703	0.29693	.	.	ENSG00000174173	ENST00000309922;ENST00000495642	T;T	0.54866	0.55;0.55	5.45	5.45	0.79879	.	0.854822	0.10779	N	0.635072	T	0.54598	0.1868	L	0.57536	1.79	0.32643	N	0.520404	B	0.27559	0.181	B	0.20767	0.031	T	0.57768	-0.7754	10	0.39692	T	0.17	-2.6616	20.1745	0.98175	0.0:0.0:1.0:0.0	.	87	Q7L0Y3	MRRP1_HUMAN	N	87	ENSP00000312356:D87N;ENSP00000419389:D87N	ENSP00000312356:D87N	D	+	1	0	RG9MTD1	102766574	1.000000	0.71417	0.943000	0.38184	0.644000	0.38419	3.148000	0.50647	2.941000	0.99782	0.655000	0.94253	GAT	.	.		0.438	TRMT10C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353400.2	NM_017819	
IFT57	55081	hgsc.bcm.edu	37	3	107937444	107937444	+	Silent	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:107937444T>C	ENST00000264538.3	-	3	679	c.432A>G	c.(430-432)gtA>gtG	p.V144V		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	144					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			GAACATAGCATACATGTTCTC	0.338																																					p.V144V		Atlas-SNP	.											.	IFT57	44	.	0			c.A432G						.						69.0	70.0	69.0					3																	107937444		2203	4300	6503	SO:0001819	synonymous_variant	55081	exon3			ATAGCATACATGT	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.432A>G	chr3.hg19:g.107937444T>C		104.0	0.0		226.0	99.0	NM_018010	Q96DA9	Silent	SNP	ENST00000264538.3	hg19	CCDS2951.1																																																																																			.	.		0.338	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010	
TMPRSS7	344805	hgsc.bcm.edu	37	3	111797619	111797619	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:111797619C>T	ENST00000452346.2	+	17	2258	c.2255C>T	c.(2254-2256)gCg>gTg	p.A752V	TMPRSS7_ENST00000419127.1_Missense_Mutation_p.A626V			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	752	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CTGCAGCAAGCGGAGGTAGAG	0.463																																					p.A626V		Atlas-SNP	.											.	TMPRSS7	126	.	0			c.C1877T						.						112.0	111.0	112.0					3																	111797619		1942	4131	6073	SO:0001583	missense	344805	exon15			AGCAAGCGGAGGT	BN000125	CCDS43129.2	3q13.2	2010-04-13	2004-03-16		ENSG00000176040	ENSG00000176040		"""Serine peptidases / Transmembrane"""	30846	protein-coding gene	gene with protein product			"""type II transmembrane serine protease 7"""			12838346	Standard	NM_001042575		Approved		uc010hqb.2	Q7RTY8	OTTHUMG00000157148	ENST00000452346.2:c.2255C>T	chr3.hg19:g.111797619C>T	ENSP00000398236:p.Ala752Val	74.0	0.0		233.0	14.0	NM_001042575	C9J8P7|E9PAS3|Q17RH4	Missense_Mutation	SNP	ENST00000452346.2	hg19		.	.	.	.	.	.	.	.	.	.	C	35	5.518493	0.96416	.	.	ENSG00000176040	ENST00000452346;ENST00000443106;ENST00000437906;ENST00000419127	T;T	0.58940	0.3;0.3	5.79	5.79	0.91817	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	T	0.54647	0.1871	N	0.02765	-0.5	0.58432	D	0.999997	D;D	0.89917	1.0;0.996	D;P	0.80764	0.994;0.794	T	0.64968	-0.6282	10	0.39692	T	0.17	.	16.9482	0.86236	0.0:1.0:0.0:0.0	.	752;626	Q7RTY8;Q7RTY8-2	TMPS7_HUMAN;.	V	752;740;726;626	ENSP00000398236:A752V;ENSP00000411645:A626V	ENSP00000411645:A626V	A	+	2	0	TMPRSS7	113280309	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.884000	0.75600	2.716000	0.92895	0.655000	0.94253	GCG	.	.		0.463	TMPRSS7-003	NOVEL	NAGNAG_splice_site|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000347592.2	XM_293599	
ADPRH	141	hgsc.bcm.edu	37	3	119305482	119305482	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:119305482C>T	ENST00000478399.1	+	3	2054	c.649C>T	c.(649-651)Ctt>Ttt	p.L217F	ADPRH_ENST00000465513.1_Missense_Mutation_p.L217F|ADPRH_ENST00000357003.3_Missense_Mutation_p.L217F|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.L217F			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	217					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		AGAGGAAAATCTTCAACACTG	0.463																																					p.L217F	GBM(133;579 1804 5989 9967 40052)	Atlas-SNP	.											ADPRH,right_upper_lobe,carcinoma,0,1	ADPRH	33	.	0			c.C649T						.						75.0	76.0	75.0					3																	119305482		2203	4300	6503	SO:0001583	missense	141	exon4			GAAAATCTTCAAC	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.649C>T	chr3.hg19:g.119305482C>T	ENSP00000420200:p.Leu217Phe	19.0	0.0		42.0	2.0	NM_001125	B2R8H1|D3DN83	Missense_Mutation	SNP	ENST00000478399.1	hg19	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061701	0.76187	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.54	5.54	0.83059	.	0.206931	0.42172	D	0.000744	T	0.47116	0.1428	L	0.59436	1.845	0.50313	D	0.999864	P	0.48694	0.914	P	0.45071	0.468	T	0.46735	-0.9170	10	0.54805	T	0.06	-12.9773	17.0271	0.86450	0.0:1.0:0.0:0.0	.	217	P54922	ADPRH_HUMAN	F	217	ENSP00000420200:L217F;ENSP00000417528:L217F;ENSP00000349496:L217F;ENSP00000417430:L217F	ENSP00000349496:L217F	L	+	1	0	ADPRH	120788172	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.413000	0.34725	2.884000	0.98904	0.655000	0.94253	CTT	.	.		0.463	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125	
GTF2E1	2960	hgsc.bcm.edu	37	3	120469757	120469757	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:120469757G>A	ENST00000283875.5	+	2	451	c.358G>A	c.(358-360)Gat>Aat	p.D120N		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	120					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		CGATGAGAGAGATTCGACCAA	0.403																																					p.D120N		Atlas-SNP	.											.	GTF2E1	52	.	0			c.G358A						.						81.0	82.0	82.0					3																	120469757		2203	4300	6503	SO:0001583	missense	2960	exon2			GAGAGAGATTCGA	S67859	CCDS3002.1	3q21-q24	2010-03-23	2002-08-29		ENSG00000153767	ENSG00000153767		"""General transcription factors"""	4650	protein-coding gene	gene with protein product		189962	"""general transcription factor IIE, polypeptide 1 (alpha subunit, 56kD)"""			1454543, 8162052	Standard	NM_005513		Approved	TFIIE-A, FE	uc003edz.4	P29083	OTTHUMG00000159667	ENST00000283875.5:c.358G>A	chr3.hg19:g.120469757G>A	ENSP00000283875:p.Asp120Asn	64.0	0.0		175.0	14.0	NM_005513	Q16103	Missense_Mutation	SNP	ENST00000283875.5	hg19	CCDS3002.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973662	0.53720	.	.	ENSG00000153767	ENST00000283875;ENST00000492959	T	0.47528	0.84	6.06	5.18	0.71444	Zinc finger, RING/FYVE/PHD-type (1);TFIIEalpha/SarR/Rpc3 HTH domain (1);	0.042733	0.85682	N	0.000000	T	0.49115	0.1538	M	0.68593	2.085	0.80722	D	1	B;B	0.16166	0.002;0.016	B;B	0.29077	0.047;0.098	T	0.43130	-0.9410	9	.	.	.	-8.7497	13.5627	0.61799	0.075:0.0:0.925:0.0	.	120;120	P29083;Q53F88	T2EA_HUMAN;.	N	120	ENSP00000283875:D120N	.	D	+	1	0	GTF2E1	121952447	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.905000	0.87416	1.547000	0.49401	0.655000	0.94253	GAT	.	.		0.403	GTF2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356770.1	NM_005513	
SEMA5B	54437	hgsc.bcm.edu	37	3	122629075	122629075	+	Missense_Mutation	SNP	G	G	A	rs369693926		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:122629075G>A	ENST00000357599.3	-	23	3757	c.3371C>T	c.(3370-3372)aCg>aTg	p.T1124M	SEMA5B_ENST00000451055.2_Missense_Mutation_p.T1178M|SEMA5B_ENST00000195173.4_3'UTR	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	1124					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTAAGTAGTCGTGTACACATT	0.542																																					p.T1178M		Atlas-SNP	.											.	SEMA5B	303	.	0			c.C3533T						.	G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	206.0	173.0	184.0		3371	5.1	1.0	3		184	0,8600		0,0,4300	no	missense	SEMA5B	NM_001031702.2	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1124/1152	122629075	1,13005	2203	4300	6503	SO:0001583	missense	54437	exon23			GTAGTCGTGTACA	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.3371C>T	chr3.hg19:g.122629075G>A	ENSP00000350215:p.Thr1124Met	145.0	0.0		529.0	27.0	NM_001256347	A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	hg19	CCDS35491.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.7|22.7	4.323460|4.323460	0.81580|0.81580	2.27E-4|2.27E-4	0.0|0.0	ENSG00000082684|ENSG00000082684	ENST00000451541|ENST00000357599;ENST00000418793;ENST00000451055	.|T;T	.|0.37584	.|1.19;1.23	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.052354	.|0.85682	.|D	.|0.000000	.|T	.|0.48786	.|0.1519	L|L	0.29908|0.29908	0.895|0.895	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.72338	.|0.977;0.95	.|T	.|0.46693	.|-0.9173	.|10	.|0.52906	.|T	.|0.07	.|.	17.1675|17.1675	0.86820|0.86820	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1030;1124	.|D3YTI7;Q9P283	.|.;SEM5B_HUMAN	X|M	170|1124;1030;1178	.|ENSP00000350215:T1124M;ENSP00000389588:T1178M	.|ENSP00000350215:T1124M	R|T	-|-	1|2	2|0	SEMA5B|SEMA5B	124111765|124111765	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.981000|0.981000	0.71138|0.71138	9.263000|9.263000	0.95617|0.95617	2.643000|2.643000	0.89663|0.89663	0.650000|0.650000	0.86243|0.86243	CGA|ACG	.	.		0.542	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702	
KALRN	8997	hgsc.bcm.edu	37	3	124165646	124165646	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:124165646C>G	ENST00000240874.3	+	21	3617	c.3460C>G	c.(3460-3462)Ctc>Gtc	p.L1154V	KALRN_ENST00000360013.3_Missense_Mutation_p.L1154V|KALRN_ENST00000460856.1_Missense_Mutation_p.L1145V	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1154					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TGAATTTTACCTCTCAACACA	0.488																																					p.L1154V		Atlas-SNP	.											.	KALRN	556	.	0			c.C3460G						.						125.0	127.0	127.0					3																	124165646		2203	4300	6503	SO:0001583	missense	8997	exon21			TTTTACCTCTCAA	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.3460C>G	chr3.hg19:g.124165646C>G	ENSP00000240874:p.Leu1154Val	51.0	0.0		116.0	12.0	NM_003947	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	ENST00000240874.3	hg19	CCDS3027.1	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972333	0.92919	.	.	ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013	T;T;T	0.54071	0.59;0.59;0.59	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.72590	0.3479	M	0.73217	2.22	0.80722	D	1	P;P;D;P	0.69078	0.933;0.921;0.997;0.918	P;P;D;P	0.79108	0.718;0.901;0.992;0.596	T	0.70945	-0.4734	10	0.44086	T	0.13	.	19.3628	0.94448	0.0:1.0:0.0:0.0	.	1145;500;1154;1154	C9IZQ6;F2Z3Q6;O60229;O60229-2	.;.;KALRN_HUMAN;.	V	1145;1154;1154	ENSP00000418611:L1145V;ENSP00000240874:L1154V;ENSP00000353109:L1154V	ENSP00000240874:L1154V	L	+	1	0	KALRN	125648336	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.782000	0.62396	2.802000	0.96397	0.561000	0.74099	CTC	.	.		0.488	KALRN-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258843.4	NM_003947	
PLXND1	23129	hgsc.bcm.edu	37	3	129275500	129275500	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:129275500A>G	ENST00000324093.4	-	35	5799	c.5621T>C	c.(5620-5622)aTg>aCg	p.M1874T	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.M30T	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1874					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AATCTCTGCCATGGCCACATT	0.552																																					p.M1874T	Ovarian(97;366 1484 3738 22084 39045)	Atlas-SNP	.											.	PLXND1	149	.	0			c.T5621C						.						158.0	142.0	147.0					3																	129275500		2203	4300	6503	SO:0001583	missense	23129	exon35			TCTGCCATGGCCA	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.5621T>C	chr3.hg19:g.129275500A>G	ENSP00000317128:p.Met1874Thr	83.0	0.0		291.0	27.0	NM_015103	A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Missense_Mutation	SNP	ENST00000324093.4	hg19	CCDS33854.1	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636703	0.47049	.	.	ENSG00000004399	ENST00000324093;ENST00000504689	T;T	0.11930	2.73;2.73	5.11	3.96	0.45880	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.103102	0.64402	D	0.000004	T	0.09905	0.0243	N	0.14661	0.345	0.80722	D	1	B;P	0.38677	0.017;0.642	B;B	0.39971	0.018;0.315	T	0.14559	-1.0468	10	0.87932	D	0	.	10.902	0.47058	0.9258:0.0:0.0742:0.0	.	470;1874	B4DRU3;Q9Y4D7	.;PLXD1_HUMAN	T	1874;30	ENSP00000317128:M1874T;ENSP00000426162:M30T	ENSP00000317128:M1874T	M	-	2	0	PLXND1	130758190	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	5.168000	0.64978	0.786000	0.33708	-0.609000	0.04063	ATG	.	.		0.552	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103	
COL6A6	131873	hgsc.bcm.edu	37	3	130286897	130286897	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:130286897A>G	ENST00000358511.6	+	5	1881	c.1850A>G	c.(1849-1851)aAa>aGa	p.K617R	COL6A6_ENST00000453409.2_Missense_Mutation_p.K617R	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	617	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCAGCTTGCAAAGAGATGAAA	0.343																																					p.K617R		Atlas-SNP	.											.	COL6A6	497	.	0			c.A1850G						.						50.0	48.0	49.0					3																	130286897		1828	4101	5929	SO:0001583	missense	131873	exon5			CTTGCAAAGAGAT	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.1850A>G	chr3.hg19:g.130286897A>G	ENSP00000351310:p.Lys617Arg	52.0	0.0		149.0	11.0	NM_001102608	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	hg19	CCDS46911.1	.	.	.	.	.	.	.	.	.	.	A	8.783	0.928789	0.18131	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.78246	-1.16;-1.16	5.32	0.312	0.15837	.	0.095602	0.45867	N	0.000322	T	0.57417	0.2052	N	0.20304	0.555	0.25997	N	0.982165	B	0.18310	0.027	B	0.15052	0.012	T	0.38866	-0.9641	10	0.19147	T	0.46	.	8.7651	0.34698	0.6943:0.0:0.3057:0.0	.	617	A6NMZ7	CO6A6_HUMAN	R	617	ENSP00000351310:K617R;ENSP00000399236:K617R	ENSP00000351310:K617R	K	+	2	0	COL6A6	131769587	1.000000	0.71417	0.985000	0.45067	0.538000	0.34931	3.306000	0.51881	-0.161000	0.10983	-0.250000	0.11733	AAA	.	.		0.343	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608	
KY	339855	hgsc.bcm.edu	37	3	134348537	134348537	+	Splice_Site	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:134348537C>A	ENST00000423778.2	-	4	324	c.263G>T	c.(262-264)gGg>gTg	p.G88V	KY_ENST00000508041.1_5'Flank|KY_ENST00000503669.1_Splice_Site_p.G88V|KY_ENST00000508956.1_Splice_Site_p.G67V	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	88					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGTTGTGTCCCTACAAAGGA	0.443																																					p.G88V		Atlas-SNP	.											.	KY	92	.	0			c.G263T						.						68.0	68.0	68.0					3																	134348537		1987	4200	6187	SO:0001630	splice_region_variant	339855	exon4			TGTGTCCCTACAA	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.263-1G>T	chr3.hg19:g.134348537C>A		63.0	0.0		162.0	12.0	NM_178554	B7Z1S4|Q6ZT15	Missense_Mutation	SNP	ENST00000423778.2	hg19	CCDS46920.1	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129807	0.56721	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	5.58	5.58	0.84498	.	0.069279	0.56097	D	0.000026	T	0.63486	0.2515	L	0.59436	1.845	0.80722	D	1	P;D;P;D	0.63046	0.947;0.972;0.867;0.992	P;P;B;P	0.51415	0.656;0.669;0.44;0.656	T	0.59526	-0.7438	9	0.25751	T	0.34	.	16.4916	0.84202	0.0:1.0:0.0:0.0	.	67;88;88;49	Q8NBH2-3;B4DGA7;Q8NBH2-4;Q8NBH2-2	.;.;.;.	V	67;88;88;88	.	ENSP00000309520:G88V	G	-	2	0	KY	135831227	1.000000	0.71417	0.998000	0.56505	0.406000	0.30931	4.312000	0.59154	2.622000	0.88805	0.557000	0.71058	GGG	.	.		0.443	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554	Missense_Mutation
CEP70	80321	hgsc.bcm.edu	37	3	138219253	138219253	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:138219253G>A	ENST00000264982.3	-	15	1791	c.1525C>T	c.(1525-1527)Ctc>Ttc	p.L509F	CEP70_ENST00000489254.1_Missense_Mutation_p.L357F|CEP70_ENST00000484888.1_Missense_Mutation_p.L509F|CEP70_ENST00000542237.1_Missense_Mutation_p.L489F|CEP70_ENST00000481834.1_Missense_Mutation_p.L509F	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	509					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AATTCTAAGAGTTCTTGGAGG	0.318																																					p.L509F		Atlas-SNP	.											.	CEP70	51	.	0			c.C1525T						.						100.0	112.0	108.0					3																	138219253		2203	4300	6503	SO:0001583	missense	80321	exon15			CTAAGAGTTCTTG	AF202146	CCDS3102.1, CCDS75022.1, CCDS75023.1, CCDS75024.1	3q22.3	2014-02-20			ENSG00000114107	ENSG00000114107			29972	protein-coding gene	gene with protein product		614310				14654843	Standard	XM_005247802		Approved	BITE, FLJ13036	uc003esl.3	Q8NHQ1	OTTHUMG00000159891	ENST00000264982.3:c.1525C>T	chr3.hg19:g.138219253G>A	ENSP00000264982:p.Leu509Phe	116.0	0.0		366.0	28.0	NM_024491	B7Z5I8|B7Z7E8|D3DNE9|F5GZX8|Q96B31|Q9H2C3|Q9H2Z1|Q9H940	Missense_Mutation	SNP	ENST00000264982.3	hg19	CCDS3102.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100107	0.56183	.	.	ENSG00000114107	ENST00000264982;ENST00000542237;ENST00000489254;ENST00000484888;ENST00000474781;ENST00000481834	T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62	4.88	3.93	0.45458	Tetratricopeptide repeat-containing (1);	0.326421	0.29838	N	0.011079	T	0.50103	0.1596	M	0.66939	2.045	0.42564	D	0.993153	D;P;D;P	0.69078	0.96;0.904;0.997;0.904	P;P;D;P	0.68192	0.663;0.625;0.956;0.625	T	0.52866	-0.8518	10	0.72032	D	0.01	-0.9042	12.1533	0.54062	0.0:0.0:0.8187:0.1813	.	357;489;509;509	B7Z2D2;F5GZX8;Q8NHQ1-2;Q8NHQ1	.;.;.;CEP70_HUMAN	F	509;489;357;509;491;509	ENSP00000264982:L509F;ENSP00000444128:L489F;ENSP00000417821:L357F;ENSP00000419231:L509F;ENSP00000419833:L491F;ENSP00000417465:L509F	ENSP00000264982:L509F	L	-	1	0	CEP70	139701943	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.310000	0.43708	2.552000	0.86080	0.655000	0.94253	CTC	.	.		0.318	CEP70-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358001.1	NM_024491	
CLSTN2	64084	hgsc.bcm.edu	37	3	140281020	140281020	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:140281020A>T	ENST00000458420.3	+	13	2272	c.2082A>T	c.(2080-2082)ttA>ttT	p.L694F		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	694					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTCATAACTTAGATTTCTGTG	0.498										HNSCC(16;0.037)																											p.L694F	GBM(45;858 913 3709 36904 37282)	Atlas-SNP	.											.	CLSTN2	190	.	0			c.A2082T						.						102.0	98.0	99.0					3																	140281020		2203	4300	6503	SO:0001583	missense	64084	exon13			TAACTTAGATTTC	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2082A>T	chr3.hg19:g.140281020A>T	ENSP00000402460:p.Leu694Phe	47.0	0.0		144.0	16.0	NM_022131	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	hg19	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.228156	0.79576	.	.	ENSG00000158258	ENST00000458420	T	0.34072	1.38	5.43	-1.16	0.09678	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	M	0.85630	2.765	0.46774	D	0.999195	D	0.76494	0.999	D	0.85130	0.997	T	0.54516	-0.8282	9	.	.	.	-32.6169	6.295	0.21081	0.2692:0.0:0.5783:0.1525	.	694	Q9H4D0	CSTN2_HUMAN	F	694	ENSP00000402460:L694F	.	L	+	3	2	CLSTN2	141763710	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	2.414000	0.44627	0.125000	0.18397	0.533000	0.62120	TTA	.	.		0.498	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3	NM_022131	
TFDP2	7029	hgsc.bcm.edu	37	3	141678612	141678613	+	Nonsense_Mutation	DNP	CC	CC	AA			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:141678612_141678613CC>AA	ENST00000489671.1	-	11	1384_1385	c.954_955GG>TT	c.(952-957)atGGga>atTTga	p.318_319MG>I*	TFDP2_ENST00000495310.1_Nonsense_Mutation_p.221_222MG>I*|TFDP2_ENST00000317104.7_Nonsense_Mutation_p.242_243MG>I*|TFDP2_ENST00000467072.1_Nonsense_Mutation_p.258_259MG>I*|TFDP2_ENST00000310282.6_Nonsense_Mutation_p.258_259MG>I*|TFDP2_ENST00000499676.2_Nonsense_Mutation_p.258_259MG>I*|TFDP2_ENST00000397991.4_Nonsense_Mutation_p.290_291MG>I*|TFDP2_ENST00000477292.1_Nonsense_Mutation_p.182_183MG>I*|TFDP2_ENST00000479040.1_Nonsense_Mutation_p.257_258MG>I*|TFDP2_ENST00000486111.1_Nonsense_Mutation_p.258_259MG>I*			Q14188	TFDP2_HUMAN	transcription factor Dp-2 (E2F dimerization partner 2)	318	DCB2.				gene expression (GO:0010467)|heart development (GO:0007507)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			kidney(1)|upper_aerodigestive_tract(2)	3						AACGACATTCCCATCCGCTTTA	0.421																																					p.G319X|p.M318I		Atlas-SNP	.											.	TFDP2	44	.	0			c.G955T|c.G954T						.																																			SO:0001587	stop_gained	7029	exon11			ACATTCCCATCCG|CATTCCCATCCGC	U18422	CCDS43159.1, CCDS54647.1, CCDS54648.1, CCDS54649.1, CCDS54650.1	3q23	2011-05-24			ENSG00000114126	ENSG00000114126			11751	protein-coding gene	gene with protein product		602160				7784053, 9027491	Standard	NM_001178138		Approved	Dp-2	uc003eun.4	Q14188	OTTHUMG00000164975	ENST00000489671.1:c.954_955delinsAA	chr3.hg19:g.141678612_141678613delinsAA	ENSP00000420616:p.M318_G319delinsI*	61.0	0.0		157.0|159.0	14.0|15.0	NM_001178139	B7Z8C8|B7Z8L5|D3DNG1|E9PFC3|F8WAI2|Q13331|Q14187|Q6R754|Q8WU88|Q9UG28	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000489671.1	hg19	CCDS54650.1																																																																																			.	.		0.421	TFDP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353294.4	NM_006286	
CPB1	1360	hgsc.bcm.edu	37	3	148559613	148559613	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:148559613G>A	ENST00000491148.1	+	7	812	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	CPB1_ENST00000282957.4_Missense_Mutation_p.G160S			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	160						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			GCAATAGGTTGGCAAAGCTGG	0.453																																					p.G160S		Atlas-SNP	.											.	CPB1	74	.	0			c.G478A						.						150.0	138.0	142.0					3																	148559613		2203	4300	6503	SO:0001583	missense	1360	exon6			TAGGTTGGCAAAG	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.478G>A	chr3.hg19:g.148559613G>A	ENSP00000417222:p.Gly160Ser	98.0	0.0		224.0	21.0	NM_001871	O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	hg19	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.958321	0.92726	.	.	ENSG00000153002	ENST00000491148;ENST00000282957;ENST00000468341	T;T;T	0.30714	1.52;1.52;2.89	5.28	5.28	0.74379	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	L	0.33668	1.02	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.08848	-1.0702	10	0.09338	T	0.73	.	19.2751	0.94029	0.0:0.0:1.0:0.0	.	160	P15086	CBPB1_HUMAN	S	160;160;126	ENSP00000417222:G160S;ENSP00000282957:G160S;ENSP00000419427:G126S	ENSP00000282957:G160S	G	+	1	0	CPB1	150042303	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.583000	0.74053	2.644000	0.89710	0.655000	0.94253	GGC	.	.		0.453	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871	
SUCNR1	56670	hgsc.bcm.edu	37	3	151598552	151598552	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:151598552G>T	ENST00000362032.5	+	3	326	c.221G>T	c.(220-222)tGc>tTc	p.C74F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	74						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GCTTTTCTGTGCACCCTCCCC	0.423																																					p.C74F		Atlas-SNP	.											.	SUCNR1	31	.	0			c.G221T						.						152.0	149.0	150.0					3																	151598552		2203	4300	6503	SO:0001583	missense	56670	exon3			TTCTGTGCACCCT	AF348078	CCDS3162.1	3q25.1	2012-08-21	2004-07-08	2004-07-09	ENSG00000198829	ENSG00000198829		"""GPCR / Class A : Orphans"""	4542	protein-coding gene	gene with protein product		606381	"""G protein-coupled receptor 91"""	GPR91		11273702, 15141213, 17192395	Standard	NM_033050		Approved		uc003ezf.2	Q9BXA5	OTTHUMG00000159880	ENST00000362032.5:c.221G>T	chr3.hg19:g.151598552G>T	ENSP00000355156:p.Cys74Phe	103.0	0.0		305.0	34.0	NM_033050	A8K305|Q8TDQ8	Missense_Mutation	SNP	ENST00000362032.5	hg19	CCDS3162.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603049	0.28534	.	.	ENSG00000198829	ENST00000362032	T	0.35789	1.29	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50548	0.1622	L	0.33624	1.015	0.47441	D	0.999423	D	0.76494	0.999	D	0.79784	0.993	T	0.39603	-0.9606	10	0.34782	T	0.22	.	19.2413	0.93886	0.0:0.0:1.0:0.0	.	74	Q9BXA5	SUCR1_HUMAN	F	74	ENSP00000355156:C74F	ENSP00000355156:C74F	C	+	2	0	SUCNR1	153081242	1.000000	0.71417	0.999000	0.59377	0.058000	0.15608	4.301000	0.59086	2.625000	0.88918	0.655000	0.94253	TGC	.	.		0.423	SUCNR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357897.2	NM_033050	
GMPS	8833	hgsc.bcm.edu	37	3	155643090	155643090	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:155643090A>T	ENST00000496455.2	+	12	1830	c.1495A>T	c.(1495-1497)Atg>Ttg	p.M499L	GMPS_ENST00000295920.7_Missense_Mutation_p.M400L	NM_003875.2	NP_003866.1	P49915	GUAA_HUMAN	guanine monphosphate synthase	499					glutamine metabolic process (GO:0006541)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|GMP synthase (glutamine-hydrolyzing) activity (GO:0003922)|GMP synthase activity (GO:0003921)|pyrophosphatase activity (GO:0016462)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		L-Glutamine(DB00130)	GGAGAAGCTGATGCAAATTAC	0.408			T	MLL	AML																																p.M499L	Ovarian(153;896 1876 4149 15499 28134)	Atlas-SNP	.		Dom	yes		3	3q24	8833	guanine monphosphate synthetase		L	.	GMPS	70	.	0			c.A1495T						.						111.0	111.0	111.0					3																	155643090		1913	4133	6046	SO:0001583	missense	8833	exon12			AAGCTGATGCAAA	U10860	CCDS46941.1	3q25.31	2013-06-18	2013-06-18		ENSG00000163655	ENSG00000163655	6.3.5.2		4378	protein-coding gene	gene with protein product	"""GMP synthase"""	600358	"""guanine monphosphate synthetase"""			8089153, 9195163	Standard	NM_003875		Approved		uc003faq.3	P49915	OTTHUMG00000158551	ENST00000496455.2:c.1495A>T	chr3.hg19:g.155643090A>T	ENSP00000419851:p.Met499Leu	159.0	0.0		624.0	73.0	NM_003875	A8K639|B4DXV7|F8W720	Missense_Mutation	SNP	ENST00000496455.2	hg19	CCDS46941.1	.	.	.	.	.	.	.	.	.	.	A	12.17	1.858086	0.32791	.	.	ENSG00000163655	ENST00000496455;ENST00000295920;ENST00000537975;ENST00000541628	.	.	.	5.76	4.61	0.57282	GMP synthase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.27933	0.0688	N	0.05306	-0.075	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.07616	-1.0763	9	0.09338	T	0.73	-17.9133	11.5552	0.50743	0.9307:0.0:0.0693:0.0	.	400;499	F8W720;P49915	.;GUAA_HUMAN	L	499;400;448;499	.	ENSP00000295920:M400L	M	+	1	0	GMPS	157125784	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.210000	0.95106	1.018000	0.39521	0.533000	0.62120	ATG	.	.		0.408	GMPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351260.2		
SHOX2	6474	hgsc.bcm.edu	37	3	157820591	157820591	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:157820591C>T	ENST00000425436.3	-	2	456	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Missense_Mutation_p.R168Q|SHOX2_ENST00000490689.2_Missense_Mutation_p.R15Q|SHOX2_ENST00000441443.2_Missense_Mutation_p.R15Q|SHOX2_ENST00000483851.2_Missense_Mutation_p.R144Q	NM_001163678.1|NM_006884.3	NP_001157150.1|NP_006875.2	O60902	SHOX2_HUMAN	short stature homeobox 2	144					cardiac atrium morphogenesis (GO:0003209)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte development (GO:0002063)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint morphogenesis (GO:0060272)|heart development (GO:0007507)|heart valve development (GO:0003170)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of axonogenesis (GO:0050772)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of chondrocyte differentiation (GO:0032330)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAAATTGGTCCGACTTCGCCT	0.567																																					p.R168Q		Atlas-SNP	.											.	SHOX2	84	.	0			c.G503A						.						185.0	150.0	162.0					3																	157820591		2203	4300	6503	SO:0001583	missense	6474	exon3			TTGGTCCGACTTC	AJ002368	CCDS33884.1, CCDS43164.1, CCDS33884.2, CCDS54664.1	3q25.32	2011-06-20			ENSG00000168779	ENSG00000168779		"""Homeoboxes / PRD class"""	10854	protein-coding gene	gene with protein product		602504				9482898, 9466998	Standard	NM_006884		Approved	SHOT, OG12X, OG12	uc003fbs.3	O60902	OTTHUMG00000158755	ENST00000425436.3:c.431G>A	chr3.hg19:g.157820591C>T	ENSP00000398704:p.Arg144Gln	123.0	0.0		218.0	11.0	NM_003030	O60465|O60467|O60903	Missense_Mutation	SNP	ENST00000425436.3	hg19	CCDS43164.1	.	.	.	.	.	.	.	.	.	.	C	36	5.790320	0.96945	.	.	ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000168779;ENSG00000258518	ENST00000425436;ENST00000490689;ENST00000389589;ENST00000313019;ENST00000441443;ENST00000483851	D;D;D;D;D	0.99150	-5.49;-5.49;-5.49;-5.49;-5.49	5.49	5.49	0.81192	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.64402	D	0.000001	D	0.99664	0.9875	H	0.98833	4.345	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.986;0.999;1.0	D	0.97355	0.9966	10	0.87932	D	0	.	19.3594	0.94431	0.0:1.0:0.0:0.0	.	144;168;144	O60902-2;O60902-3;O60902	.;.;SHOX2_HUMAN	Q	168;15;144;15;15;144	ENSP00000398704:R168Q;ENSP00000451888:R15Q;ENSP00000374240:R144Q;ENSP00000397099:R15Q;ENSP00000419362:R144Q	ENSP00000327294:R15Q	R	-	2	0	SHOX2;AC112502.1	159303285	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.576000	0.86940	0.655000	0.94253	CGG	.	.		0.567	SHOX2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352057.2		
SI	6476	hgsc.bcm.edu	37	3	164750329	164750329	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:164750329G>A	ENST00000264382.3	-	24	2779	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	906	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AGCATCATAAGTGAAATTGGA	0.313										HNSCC(35;0.089)																											p.T906I		Atlas-SNP	.											.	SI	500	.	0			c.C2717T						.						136.0	132.0	133.0					3																	164750329		2202	4300	6502	SO:0001583	missense	6476	exon24			TCATAAGTGAAAT	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2717C>T	chr3.hg19:g.164750329G>A	ENSP00000264382:p.Thr906Ile	60.0	0.0		115.0	7.0	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	hg19	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105222	0.20632	.	.	ENSG00000090402	ENST00000264382	T	0.13901	2.55	4.88	1.8	0.24995	.	0.881571	0.10133	N	0.711840	T	0.21347	0.0514	M	0.85197	2.74	0.23930	N	0.996436	B	0.18863	0.031	B	0.16289	0.015	T	0.22591	-1.0212	10	0.72032	D	0.01	.	9.0727	0.36502	0.0:0.4573:0.3861:0.1566	.	906	P14410	SUIS_HUMAN	I	906	ENSP00000264382:T906I	ENSP00000264382:T906I	T	-	2	0	SI	166233023	0.996000	0.38824	0.364000	0.25888	0.701000	0.40568	0.488000	0.22371	0.720000	0.32209	0.655000	0.94253	ACT	.	.		0.313	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
WDR49	151790	hgsc.bcm.edu	37	3	167250760	167250760	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:167250760A>C	ENST00000308378.3	-	8	1209	c.904T>G	c.(904-906)Tat>Gat	p.Y302D	WDR49_ENST00000453925.2_Missense_Mutation_p.Y366D|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.Y127D	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	302										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTCCATCATAACTCCCTACA	0.368																																					p.Y302D		Atlas-SNP	.											.	WDR49	188	.	0			c.T904G						.						95.0	83.0	87.0					3																	167250760		2203	4299	6502	SO:0001583	missense	151790	exon8			CATCATAACTCCC	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.904T>G	chr3.hg19:g.167250760A>C	ENSP00000311343:p.Tyr302Asp	56.0	0.0		125.0	41.0	NM_178824	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	hg19	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803325	0.70682	.	.	ENSG00000174776	ENST00000308378;ENST00000476376;ENST00000453925	T;T;T	0.58797	0.31;0.31;0.31	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.301359	0.37761	N	0.001953	T	0.68183	0.2973	L	0.42581	1.335	0.37360	D	0.911182	D;D	0.76494	0.998;0.999	D;D	0.73708	0.969;0.981	T	0.69924	-0.5013	10	0.33940	T	0.23	.	15.1777	0.72927	1.0:0.0:0.0:0.0	.	366;302	E7EQK3;Q8IV35	.;WDR49_HUMAN	D	302;127;366	ENSP00000311343:Y302D;ENSP00000420508:Y127D;ENSP00000410863:Y366D	ENSP00000311343:Y302D	Y	-	1	0	WDR49	168733454	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	5.828000	0.69307	2.228000	0.72767	0.460000	0.39030	TAT	.	.		0.368	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
WDR49	151790	hgsc.bcm.edu	37	3	167293931	167293931	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:167293931T>A	ENST00000308378.3	-	4	566	c.261A>T	c.(259-261)agA>agT	p.R87S	WDR49_ENST00000453925.2_Missense_Mutation_p.R140S|WDR49_ENST00000479765.1_Missense_Mutation_p.R428S|WDR49_ENST00000476376.1_5'Flank	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	87										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TATCCCAGAGTCTCAAAACCT	0.393																																					p.R87S		Atlas-SNP	.											.	WDR49	188	.	0			c.A261T						.						59.0	57.0	58.0					3																	167293931		2203	4300	6503	SO:0001583	missense	151790	exon4			CCAGAGTCTCAAA	AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.261A>T	chr3.hg19:g.167293931T>A	ENSP00000311343:p.Arg87Ser	54.0	0.0		115.0	54.0	NM_178824	Q8N297	Missense_Mutation	SNP	ENST00000308378.3	hg19	CCDS3201.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.48|18.48	3.633155|3.633155	0.67015|0.67015	.|.	.|.	ENSG00000174776|ENSG00000174776	ENST00000472600|ENST00000308378;ENST00000479765;ENST00000453925	.|T;T;T	.|0.67345	.|-0.26;-0.26;-0.26	5.76|5.76	3.43|3.43	0.39272|0.39272	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.269257	.|0.42420	.|D	.|0.000709	T|T	0.77054|0.77054	0.4074|0.4074	M|M	0.78049|0.78049	2.395|2.395	0.22366|0.22366	N|N	0.999164|0.999164	.|D;D;D	.|0.69078	.|0.984;0.997;0.981	.|P;D;P	.|0.65140	.|0.896;0.932;0.756	T|T	0.67252|0.67252	-0.5717|-0.5717	5|10	.|0.87932	.|D	.|0	.|.	7.4604|7.4604	0.27291|0.27291	0.0:0.229:0.0:0.771|0.0:0.229:0.0:0.771	.|.	.|140;428;87	.|E7EQK3;E9PDB0;Q8IV35	.|.;.;WDR49_HUMAN	V|S	152|87;428;140	.|ENSP00000311343:R87S;ENSP00000419749:R428S;ENSP00000410863:R140S	.|ENSP00000311343:R87S	D|R	-|-	2|3	0|2	WDR49|WDR49	168776625|168776625	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	0.880000|0.880000	0.28159|0.28159	1.036000|1.036000	0.39998|0.39998	0.529000|0.529000	0.55759|0.55759	GAC|AGA	.	.		0.393	WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
NLGN1	22871	hgsc.bcm.edu	37	3	173322666	173322666	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:173322666G>T	ENST00000457714.1	+	3	707	c.278G>T	c.(277-279)cGt>cTt	p.R93L	NLGN1_ENST00000361589.4_Missense_Mutation_p.R93L|NLGN1_ENST00000401917.3_Missense_Mutation_p.R93L|NLGN1_ENST00000545397.1_Missense_Mutation_p.R93L	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	93					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R93L(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ACAGGGGAACGTCGTTTTCAG	0.453																																					p.R93L		Atlas-SNP	.											NLGN1,caecum,adenoma,0,3	NLGN1	209	.	2	Substitution - Missense(2)	lung(2)	c.G278T						.						130.0	129.0	129.0					3																	173322666		2203	4300	6503	SO:0001583	missense	22871	exon3			GGGAACGTCGTTT	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.278G>T	chr3.hg19:g.173322666G>T	ENSP00000392500:p.Arg93Leu	86.0	0.0		149.0	20.0	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	6.574	0.474179	0.12521	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3	5.62	3.23	0.37069	.	0.229124	0.34314	N	0.004077	T	0.22666	0.0547	N	0.01410	-0.885	0.32782	N	0.502396	B;B	0.26195	0.004;0.144	B;B	0.18561	0.022;0.016	T	0.16630	-1.0396	10	0.23891	T	0.37	.	6.2449	0.20811	0.6324:0.0:0.3676:0.0	.	93;93	D2X2H5;Q8N2Q7-2	.;.	L	93	ENSP00000392500:R93L;ENSP00000354541:R93L;ENSP00000410374:R93L;ENSP00000441108:R93L;ENSP00000385750:R93L	ENSP00000354541:R93L	R	+	2	0	NLGN1	174805360	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.321000	0.43805	1.069000	0.40788	-0.373000	0.07131	CGT	.	.		0.453	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
NLGN1	22871	hgsc.bcm.edu	37	3	173525610	173525610	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:173525610C>A	ENST00000457714.1	+	4	1063	c.634C>A	c.(634-636)Ctt>Att	p.L212I	NLGN1_ENST00000361589.4_Missense_Mutation_p.L212I|NLGN1_ENST00000401917.3_Missense_Mutation_p.L252I|NLGN1_ENST00000545397.1_Missense_Mutation_p.L212I	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	229					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			CAACTATCGACTTGGAGTACT	0.388																																					p.L212I		Atlas-SNP	.											.	NLGN1	209	.	0			c.C634A						.						140.0	132.0	135.0					3																	173525610		2203	4300	6503	SO:0001583	missense	22871	exon4			TATCGACTTGGAG	AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.634C>A	chr3.hg19:g.173525610C>A	ENSP00000392500:p.Leu212Ile	74.0	0.0		194.0	17.0	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	hg19	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987790	0.93106	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	T;T;T;T;T	0.74947	-0.6;-0.6;-0.89;-0.6;-0.6	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.85128	0.5626	M	0.88377	2.95	0.80722	D	1	P;P	0.50066	0.931;0.605	P;P	0.50934	0.654;0.619	D	0.87424	0.2384	10	0.62326	D	0.03	.	19.6981	0.96039	0.0:1.0:0.0:0.0	.	252;212	D2X2H5;Q8N2Q7-2	.;.	I	212;212;252;212;252	ENSP00000392500:L212I;ENSP00000354541:L212I;ENSP00000410374:L252I;ENSP00000441108:L212I;ENSP00000385750:L252I	ENSP00000354541:L212I	L	+	1	0	NLGN1	175008304	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.085000	0.71343	2.665000	0.90641	0.557000	0.71058	CTT	.	.		0.388	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
PIK3CA	5290	hgsc.bcm.edu	37	3	178916692	178916692	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:178916692C>A	ENST00000263967.3	+	2	236	c.79C>A	c.(79-81)Cca>Aca	p.P27T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	27	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATGTTTACTACCAAATGGAAT	0.413		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.P27T	Colon(199;1504 1750 3362 26421 31210 32040)	Atlas-SNP	.		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	.	PIK3CA	8460	.	0			c.C79A						.						67.0	66.0	66.0					3																	178916692		1853	4089	5942	SO:0001583	missense	5290	exon2			TTACTACCAAATG		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.79C>A	chr3.hg19:g.178916692C>A	ENSP00000263967:p.Pro27Thr	42.0	0.0		143.0	14.0	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	hg19	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364380	0.82463	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	D;D	0.91740	-1.97;-2.9	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.96516	0.8863	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96326	0.9240	9	.	.	.	-18.5061	19.267	0.93990	0.0:1.0:0.0:0.0	.	27	P42336	PK3CA_HUMAN	T	27	ENSP00000263967:P27T;ENSP00000417479:P27T	.	P	+	1	0	PIK3CA	180399386	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.394000	0.79862	2.616000	0.88540	0.650000	0.86243	CCA	.	.		0.413	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
EIF4A2	1974	hgsc.bcm.edu	37	3	186504304	186504304	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:186504304C>T	ENST00000323963.5	+	7	705	c.641C>T	c.(640-642)tCt>tTt	p.S214F	SNORA81_ENST00000408493.2_RNA|SNORA63_ENST00000363450.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Missense_Mutation_p.S215F|RP11-573D15.9_ENST00000577781.1_RNA|SNORA63_ENST00000363548.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.S119F|SNORA4_ENST00000584302.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	214	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.S214C(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GTGTTGCTTTCTGCCACAATG	0.378			T	BCL6	NHL																																p.S214F		Atlas-SNP	.		Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	EIF4A2,NS,carcinoma,0,1	EIF4A2	55	.	1	Substitution - Missense(1)	lung(1)	c.C641T						.						102.0	104.0	103.0					3																	186504304		2203	4299	6502	SO:0001583	missense	1974	exon7			TGCTTTCTGCCAC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.641C>T	chr3.hg19:g.186504304C>T	ENSP00000326381:p.Ser214Phe	139.0	0.0		363.0	27.0	NM_001967	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	hg19	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.911871	0.72983	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.12774	2.65;2.65;2.65	5.13	5.13	0.70059	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	H	0.98786	4.33	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.999;0.999	D;D;D;D	0.79108	0.943;0.992;0.946;0.968	T	0.74763	-0.3555	10	0.87932	D	0	-27.6825	16.4642	0.84073	0.0:1.0:0.0:0.0	.	70;119;215;214	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	F	214;215;119	ENSP00000326381:S214F;ENSP00000398370:S215F;ENSP00000348925:S119F	ENSP00000326381:S214F	S	+	2	0	EIF4A2	187986998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.075000	0.76798	2.827000	0.97445	0.650000	0.86243	TCT	.	.		0.378	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	NM_001967	
MB21D2	151963	hgsc.bcm.edu	37	3	192516472	192516472	+	Silent	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:192516472G>T	ENST00000392452.2	-	2	1499	c.1179C>A	c.(1177-1179)gtC>gtA	p.V393V		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	393							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CGTGAAGCATGACTGTCTCCT	0.562																																					p.V393V		Atlas-SNP	.											.	MB21D2	75	.	0			c.C1179A						.						58.0	48.0	51.0					3																	192516472		2203	4300	6503	SO:0001819	synonymous_variant	151963	exon2			AAGCATGACTGTC	AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.1179C>A	chr3.hg19:g.192516472G>T		23.0	0.0		42.0	20.0	NM_178496	Q86VD8	Silent	SNP	ENST00000392452.2	hg19	CCDS3302.2																																																																																			.	.		0.562	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496	
MUC4	4585	hgsc.bcm.edu	37	3	195511217	195511217	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:195511217C>T	ENST00000463781.3	-	2	7693	c.7234G>A	c.(7234-7236)Ggt>Agt	p.G2412S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2412S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.592																																					p.G2412S		Atlas-SNP	.											.	MUC4	1505	.	0			c.G7234A						.						42.0	43.0	42.0					3																	195511217		670	1588	2258	SO:0001583	missense	4585	exon2			CGTGACCTGTGGA	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7234G>A	chr3.hg19:g.195511217C>T	ENSP00000417498:p.Gly2412Ser	47.0	0.0		123.0	5.0	NM_018406	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	hg19	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	6.319	0.426990	0.11987	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.48;1.44	.	.	.	.	.	.	.	.	T	0.15176	0.0366	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.26326	-1.0106	7	.	.	.	.	2.9308	0.05799	0.0:0.6068:0.0:0.3932	.	2412	E7ESK3	.	S	2412	ENSP00000417498:G2412S;ENSP00000420243:G2412S	.	G	-	1	0	MUC4	196995612	0.000000	0.05858	0.006000	0.13384	0.007000	0.05969	-0.204000	0.09425	0.482000	0.27582	0.000000	0.15137	GGT	.	.		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ZDHHC19	131540	hgsc.bcm.edu	37	3	195935366	195935366	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr3:195935366C>T	ENST00000296326.3	-	4	553	c.474G>A	c.(472-474)atG>atA	p.M158I	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	158						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGACAAGCAGCATGAAGAAGC	0.597																																					p.M158I		Atlas-SNP	.											.	ZDHHC19	25	.	0			c.G474A						.						126.0	146.0	139.0					3																	195935366		2192	4282	6474	SO:0001583	missense	131540	exon4			AAGCAGCATGAAG	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.474G>A	chr3.hg19:g.195935366C>T	ENSP00000296326:p.Met158Ile	78.0	0.0		241.0	30.0	NM_001039617	A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	hg19	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485295	0.63962	.	.	ENSG00000163958	ENST00000296326	T	0.20881	2.04	5.61	4.68	0.58851	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.368313	0.26635	N	0.023291	T	0.11324	0.0276	N	0.11845	0.185	0.31438	N	0.672257	P	0.35656	0.514	B	0.31016	0.123	T	0.06427	-1.0827	10	0.48119	T	0.1	-23.8633	11.6545	0.51309	0.0:0.8214:0.1786:0.0	.	158	Q8WVZ1	ZDH19_HUMAN	I	158	ENSP00000296326:M158I	ENSP00000296326:M158I	M	-	3	0	ZDHHC19	197419763	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.782000	0.47758	2.638000	0.89438	0.561000	0.74099	ATG	.	.		0.597	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637	
WHSC1	7468	hgsc.bcm.edu	37	4	1957858	1957858	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:1957858G>T	ENST00000382895.3	+	17	3255	c.2824G>T	c.(2824-2826)Ggg>Tgg	p.G942W	WHSC1_ENST00000508803.1_Missense_Mutation_p.G942W|WHSC1_ENST00000382892.2_Missense_Mutation_p.G942W|WHSC1_ENST00000382888.3_Missense_Mutation_p.G290W|WHSC1_ENST00000382891.5_Missense_Mutation_p.G942W|WHSC1_ENST00000482415.2_3'UTR	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	942	PWWP 2. {ECO:0000255|PROSITE- ProRule:PRU00162}.				anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTACATGGAGGGGGACCGGGG	0.512			T	IGH@	MM																																p.G942W		Atlas-SNP	.		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	.	WHSC1	180	.	0			c.G2824T						.						79.0	98.0	91.0					4																	1957858		2203	4300	6503	SO:0001583	missense	7468	exon15			ATGGAGGGGGACC	AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2824G>T	chr4.hg19:g.1957858G>T	ENSP00000372351:p.Gly942Trp	42.0	0.0		180.0	14.0	NM_133335	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	hg19	CCDS33940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.517268|4.517268	0.85495|0.85495	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000514329|ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	.|T;T;T;T;T	.|0.33438	.|1.41;1.41;1.41;1.41;1.41	5.76|5.76	4.92|4.92	0.64577|0.64577	.|PWWP (2);	0.101187|0.101187	0.43919|0.43919	D|D	0.000517|0.000517	T|T	0.60104|0.60104	0.2243|0.2243	M|M	0.85197|0.85197	2.74|2.74	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.995;0.999	T|T	0.67803|0.67803	-0.5576|-0.5576	6|10	.|0.87932	.|D	.|0	.|.	14.6702|14.6702	0.68937|0.68937	0.0696:0.0:0.9304:0.0|0.0696:0.0:0.9304:0.0	.|.	.|290;942	.|A2A2T2;O96028	.|.;NSD2_HUMAN	V|W	265|942;942;942;942;290	.|ENSP00000423972:G942W;ENSP00000372347:G942W;ENSP00000372348:G942W;ENSP00000372351:G942W;ENSP00000372344:G290W	.|ENSP00000372344:G290W	G|G	+|+	2|1	0|0	WHSC1|WHSC1	1927656|1927656	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.661000|9.661000	0.98601|0.98601	1.432000|1.432000	0.47375|0.47375	0.655000|0.655000	0.94253|0.94253	GGG|GGG	.	.		0.512	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
FAM193A	8603	hgsc.bcm.edu	37	4	2717767	2717767	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:2717767A>G	ENST00000324666.5	+	19	3991	c.3640A>G	c.(3640-3642)Aaa>Gaa	p.K1214E	FAM193A_ENST00000505311.1_Missense_Mutation_p.K1173E|FAM193A_ENST00000502458.1_Missense_Mutation_p.K1195E|FAM193A_ENST00000382839.3_Missense_Mutation_p.K1173E|FAM193A_ENST00000545951.1_Missense_Mutation_p.K1173E	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1214										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CTTTCTACCTAAAGATATTGA	0.408																																					p.K1214E		Atlas-SNP	.											.	FAM193A	103	.	0			c.A3640G						.						207.0	196.0	200.0					4																	2717767		2203	4300	6503	SO:0001583	missense	8603	exon19			CTACCTAAAGATA	AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3640A>G	chr4.hg19:g.2717767A>G	ENSP00000324587:p.Lys1214Glu	147.0	0.0		187.0	74.0	NM_001256666	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	hg19	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.638692	0.87760	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.81588	0.4854	L	0.42245	1.32	0.80722	D	1	D;P;D;D;D	0.76494	0.992;0.855;0.999;0.999;0.998	D;P;D;D;D	0.87578	0.984;0.615;0.998;0.997;0.998	T	0.82855	-0.0251	10	0.59425	D	0.04	-23.2818	14.4897	0.67642	1.0:0.0:0.0:0.0	.	1173;1195;1214;1195;1173	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	E	1173;1214;1173;1195	ENSP00000372290:K1173E;ENSP00000324587:K1214E;ENSP00000443617:K1173E;ENSP00000427505:K1195E	ENSP00000324587:K1214E	K	+	1	0	FAM193A	2687565	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.011000	0.88624	2.105000	0.64084	0.482000	0.46254	AAA	.	.		0.408	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
HS3ST1	9957	hgsc.bcm.edu	37	4	11400952	11400952	+	Silent	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:11400952A>T	ENST00000002596.5	-	2	1852	c.678T>A	c.(676-678)ccT>ccA	p.P226P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	226					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						TTTGGATCTCAGGGAAGGGGT	0.552																																					p.P226P		Atlas-SNP	.											.	HS3ST1	41	.	0			c.T678A						.						35.0	36.0	36.0					4																	11400952		2203	4300	6503	SO:0001819	synonymous_variant	9957	exon2			GATCTCAGGGAAG	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.678T>A	chr4.hg19:g.11400952A>T		19.0	0.0		66.0	34.0	NM_005114	B3KUA6|Q6PEY8	Silent	SNP	ENST00000002596.5	hg19	CCDS3408.1																																																																																			.	.		0.552	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114	
CD38	952	hgsc.bcm.edu	37	4	15839760	15839760	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:15839760T>C	ENST00000226279.3	+	5	768	c.631T>C	c.(631-633)Tcc>Ccc	p.S211P		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	211					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GCTCAATGGATCCCGCAGTAA	0.383																																					p.S211P		Atlas-SNP	.											.	CD38	36	.	0			c.T631C						.						143.0	133.0	136.0					4																	15839760		2203	4300	6503	SO:0001583	missense	952	exon5			AATGGATCCCGCA	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.631T>C	chr4.hg19:g.15839760T>C	ENSP00000226279:p.Ser211Pro	53.0	0.0		86.0	11.0	NM_001775	O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	hg19	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	T	13.69	2.312152	0.40895	.	.	ENSG00000004468	ENST00000226279;ENST00000510674	T;T	0.53857	0.6;0.6	5.4	5.4	0.78164	NAD(P)-binding domain (1);	0.112478	0.64402	D	0.000007	T	0.74703	0.3751	M	0.87381	2.88	0.40730	D	0.982734	D	0.89917	1.0	D	0.91635	0.999	T	0.80169	-0.1494	10	0.87932	D	0	-28.9521	12.0932	0.53739	0.0:0.0:0.0:1.0	.	211	P28907	CD38_HUMAN	P	211;99	ENSP00000226279:S211P;ENSP00000423047:S99P	ENSP00000226279:S211P	S	+	1	0	CD38	15448858	0.010000	0.17322	0.355000	0.25773	0.161000	0.22273	0.907000	0.28531	2.178000	0.69098	0.533000	0.62120	TCC	.	.		0.383	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775	
PCDH7	5099	hgsc.bcm.edu	37	4	30724910	30724910	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:30724910C>A	ENST00000361762.2	+	1	2874	c.1866C>A	c.(1864-1866)agC>agA	p.S622R	PCDH7_ENST00000543491.1_Missense_Mutation_p.S622R	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	622	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCAGGGCAGCACTACGGTGA	0.488																																					p.S622R		Atlas-SNP	.											.	PCDH7	215	.	0			c.C1866A						.						92.0	97.0	95.0					4																	30724910		2203	4300	6503	SO:0001583	missense	5099	exon1			GGGCAGCACTACG	AB006755	CCDS33971.1, CCDS75116.1	4p15	2014-06-13	2007-02-12			ENSG00000169851		"""Cadherins / Protocadherins : Non-clustered"""	8659	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 120"""	602988	"""BH-protocadherin (brain-heart)"""			9615233	Standard	NM_002589		Approved	BH-Pcdh, PPP1R120	uc021xnd.1	O60245		ENST00000361762.2:c.1866C>A	chr4.hg19:g.30724910C>A	ENSP00000355243:p.Ser622Arg	32.0	0.0		100.0	18.0	NM_032457	O60246|O60247|Q4W5C4	Missense_Mutation	SNP	ENST00000361762.2	hg19	CCDS33971.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.82|13.82	2.352629|2.352629	0.41700|0.41700	.|.	.|.	ENSG00000169851|ENSG00000169851	ENST00000511884|ENST00000361762;ENST00000543491;ENST00000333135	.|T;T	.|0.50813	.|0.73;0.73	5.37|5.37	3.65|3.65	0.41850|0.41850	.|Cadherin (5);Cadherin-like (1);	.|.	.|.	.|.	.|.	T|T	0.45054|0.45054	0.1323|0.1323	N|N	0.25957|0.25957	0.775|0.775	0.48975|0.48975	D|D	0.99973|0.99973	.|D;D;P	.|0.55800	.|0.973;0.973;0.872	.|P;P;P	.|0.55871	.|0.786;0.786;0.756	T|T	0.41342|0.41342	-0.9514|-0.9514	5|9	.|0.72032	.|D	.|0.01	.|.	6.8325|6.8325	0.23917|0.23917	0.1414:0.7145:0.0:0.1441|0.1414:0.7145:0.0:0.1441	.|.	.|622;575;622	.|F5GWJ1;O60245-3;O60245	.|.;.;PCDH7_HUMAN	N|R	312|622;622;575	.|ENSP00000355243:S622R;ENSP00000441802:S622R	.|ENSP00000330302:S575R	H|S	+|+	1|3	0|2	PCDH7|PCDH7	30334008|30334008	0.845000|0.845000	0.29573|0.29573	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-0.058000|-0.058000	0.11750|0.11750	0.839000|0.839000	0.34971|0.34971	0.655000|0.655000	0.94253|0.94253	CAC|AGC	.	.		0.488	PCDH7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360366.1	NM_032457, NM_002589	
NWD2	57495	hgsc.bcm.edu	37	4	37447730	37447730	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:37447730A>G	ENST00000309447.5	+	7	4968	c.4120A>G	c.(4120-4122)Aca>Gca	p.T1374A		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1374										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TATAATGGTGACATCAGATGA	0.433																																					p.T1374A		Atlas-SNP	.											.	KIAA1239	79	.	0			c.A4120G						.						64.0	57.0	59.0					4																	37447730		692	1591	2283	SO:0001583	missense	57495	exon7			ATGGTGACATCAG																												ENST00000309447.5:c.4120A>G	chr4.hg19:g.37447730A>G	ENSP00000309501:p.Thr1374Ala	38.0	0.0		107.0	17.0	NM_001144990	A8MRU1	Missense_Mutation	SNP	ENST00000309447.5	hg19	CCDS47040.1	.	.	.	.	.	.	.	.	.	.	A	13.88	2.367789	0.42003	.	.	ENSG00000174145	ENST00000309447	T	0.32023	1.47	6.17	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.059806	0.64402	D	0.000003	T	0.20740	0.0499	N	0.24115	0.695	0.58432	D	0.999992	P	0.37441	0.595	B	0.34931	0.192	T	0.04178	-1.0971	10	0.41790	T	0.15	.	12.4651	0.55753	0.8747:0.0:0.0:0.1253	.	1374	Q9ULI1	K1239_HUMAN	A	1374	ENSP00000309501:T1374A	ENSP00000309501:T1374A	T	+	1	0	KIAA1239	37124125	1.000000	0.71417	0.998000	0.56505	0.890000	0.51754	7.053000	0.76641	2.371000	0.80710	0.533000	0.62120	ACA	.	.		0.433	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347551.2		
NWD2	57495	hgsc.bcm.edu	37	4	37447823	37447823	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:37447823A>C	ENST00000309447.5	+	7	5061	c.4213A>C	c.(4213-4215)Att>Ctt	p.I1405L		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1405										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						TCAGCTGCTGATTACACACAA	0.498																																					p.I1405L		Atlas-SNP	.											.	KIAA1239	79	.	0			c.A4213C						.						45.0	41.0	42.0					4																	37447823		692	1591	2283	SO:0001583	missense	57495	exon7			CTGCTGATTACAC																												ENST00000309447.5:c.4213A>C	chr4.hg19:g.37447823A>C	ENSP00000309501:p.Ile1405Leu	21.0	0.0		91.0	14.0	NM_001144990	A8MRU1	Missense_Mutation	SNP	ENST00000309447.5	hg19	CCDS47040.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.503020	0.44558	.	.	ENSG00000174145	ENST00000309447	T	0.28666	1.6	6.17	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057510	0.64402	D	0.000002	T	0.19248	0.0462	N	0.19112	0.55	0.54753	D	0.999985	B	0.12013	0.005	B	0.11329	0.006	T	0.06862	-1.0803	10	0.13470	T	0.59	.	13.2634	0.60120	0.868:0.132:0.0:0.0	.	1405	Q9ULI1	K1239_HUMAN	L	1405	ENSP00000309501:I1405L	ENSP00000309501:I1405L	I	+	1	0	KIAA1239	37124218	1.000000	0.71417	0.973000	0.42090	0.998000	0.95712	7.040000	0.76551	2.371000	0.80710	0.533000	0.62120	ATT	.	.		0.498	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347551.2		
RFC1	5981	hgsc.bcm.edu	37	4	39310299	39310299	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:39310299C>A	ENST00000381897.1	-	13	1975	c.1842G>T	c.(1840-1842)tgG>tgT	p.W614C	RFC1_ENST00000349703.2_Missense_Mutation_p.W614C	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	614					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AGTTTCGGAGCCAGCGTAGGA	0.428																																					p.W614C	Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	Atlas-SNP	.											.	RFC1	114	.	0			c.G1842T						.						159.0	166.0	164.0					4																	39310299		2203	4300	6503	SO:0001583	missense	5981	exon13			TCGGAGCCAGCGT	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.1842G>T	chr4.hg19:g.39310299C>A	ENSP00000371321:p.Trp614Cys	139.0	0.0		352.0	33.0	NM_002913	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	hg19	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.611366	0.87258	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.17854	2.25;2.25	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.54398	0.1856	M	0.90922	3.16	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.62548	-0.6831	10	0.87932	D	0	-6.9473	20.3053	0.98627	0.0:1.0:0.0:0.0	.	614;614	P35251;P35251-2	RFC1_HUMAN;.	C	614	ENSP00000371321:W614C;ENSP00000261424:W614C	ENSP00000261424:W614C	W	-	3	0	RFC1	38986694	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.502000	0.81614	2.808000	0.96608	0.655000	0.94253	TGG	.	.		0.428	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
GABRG1	2565	hgsc.bcm.edu	37	4	46053503	46053503	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:46053503A>T	ENST00000295452.4	-	8	1236	c.1069T>A	c.(1069-1071)Ttt>Att	p.F357I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	357					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)	TTGCTGGTAAAATAATGCAAG	0.323																																					p.F357I		Atlas-SNP	.											.	GABRG1	172	.	0			c.T1069A						.						77.0	71.0	73.0					4																	46053503		2203	4299	6502	SO:0001583	missense	2565	exon8			TGGTAAAATAATG	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.1069T>A	chr4.hg19:g.46053503A>T	ENSP00000295452:p.Phe357Ile	79.0	0.0		80.0	31.0	NM_173536	Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	hg19	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	A	27.9	4.875245	0.91664	.	.	ENSG00000163285	ENST00000295452;ENST00000540030	D	0.85339	-1.97	5.64	5.64	0.86602	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.84252	0.5431	N	0.20807	0.61	0.58432	D	0.999994	P	0.52316	0.952	P	0.57720	0.826	D	0.83888	0.0283	10	0.33141	T	0.24	.	15.0509	0.71867	1.0:0.0:0.0:0.0	.	357	Q8N1C3	GBRG1_HUMAN	I	357	ENSP00000295452:F357I	ENSP00000295452:F357I	F	-	1	0	GABRG1	45748260	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	8.962000	0.93254	2.152000	0.67230	0.533000	0.62120	TTT	.	.		0.323	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536	
GABRA2	2555	hgsc.bcm.edu	37	4	46390684	46390684	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:46390684G>T	ENST00000510861.1	-	2	213	c.40C>A	c.(40-42)Ctt>Att	p.L14I	RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000381620.4_Missense_Mutation_p.L14I|GABRA2_ENST00000507460.1_Missense_Mutation_p.L14I|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000507069.1_Missense_Mutation_p.L14I|GABRA2_ENST00000356504.1_Missense_Mutation_p.L14I|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Missense_Mutation_p.L14I|GABRA2_ENST00000514090.1_Missense_Mutation_p.L14I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	14					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	AAAACAAAAAGCAGGAACTGC	0.378																																					p.L14I		Atlas-SNP	.											.	GABRA2	134	.	0			c.C40A						.						159.0	157.0	158.0					4																	46390684		2203	4300	6503	SO:0001583	missense	2555	exon2			CAAAAAGCAGGAA		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.40C>A	chr4.hg19:g.46390684G>T	ENSP00000421828:p.Leu14Ile	142.0	0.0		490.0	38.0	NM_000807	A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	ENST00000510861.1	hg19	CCDS3471.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315639	0.60524	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000507069;ENST00000515082;ENST00000503806;ENST00000506961;ENST00000507460	T;T;T;T;T;D;T;T	0.81908	-1.34;-1.34;-1.34;-1.34;-1.49;-1.55;-1.17;-1.17	5.0	5.0	0.66597	.	1.271310	0.05211	N	0.506821	D	0.87621	0.6223	N	0.24115	0.695	0.26319	N	0.9777	D;P;P	0.67145	0.996;0.927;0.458	D;D;P	0.80764	0.994;0.953;0.745	T	0.79650	-0.1715	10	0.72032	D	0.01	.	15.9563	0.79889	0.0:0.0:1.0:0.0	.	14;14;14	D6RAA9;G5E9Z6;P47869	.;.;GBRA2_HUMAN	I	14	ENSP00000421828:L14I;ENSP00000421300:L14I;ENSP00000371033:L14I;ENSP00000348897:L14I;ENSP00000427603:L14I;ENSP00000423840:L14I;ENSP00000424362:L14I;ENSP00000424093:L14I	ENSP00000348897:L14I	L	-	1	0	GABRA2	46085441	0.998000	0.40836	0.269000	0.24586	0.582000	0.36321	2.893000	0.48633	2.746000	0.94184	0.561000	0.74099	CTT	.	.		0.378	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
GABRA4	2557	hgsc.bcm.edu	37	4	46930408	46930408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:46930408G>T	ENST00000264318.3	-	9	2481	c.1499C>A	c.(1498-1500)tCa>tAa	p.S500*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	500					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGAGTAGCTGACAACTTCCC	0.468																																					p.S500X	Ovarian(6;283 369 8234 12290 33402)	Atlas-SNP	.											.	GABRA4	129	.	0			c.C1499A						.						166.0	155.0	158.0					4																	46930408		2203	4300	6503	SO:0001587	stop_gained	2557	exon9			GTAGCTGACAACT		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1499C>A	chr4.hg19:g.46930408G>T	ENSP00000264318:p.Ser500*	101.0	0.0		230.0	18.0	NM_000809	Q8IYR7	Nonsense_Mutation	SNP	ENST00000264318.3	hg19	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	G	42	9.806889	0.99268	.	.	ENSG00000109158	ENST00000264318	.	.	.	5.82	5.82	0.92795	.	1.208420	0.05585	N	0.573544	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	17.2702	0.87099	0.0:0.0:1.0:0.0	.	.	.	.	X	500	.	ENSP00000264318:S500X	S	-	2	0	GABRA4	46625165	1.000000	0.71417	0.016000	0.15963	0.002000	0.02628	5.713000	0.68415	2.765000	0.95021	0.650000	0.86243	TCA	.	.		0.468	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
EXOC1	55763	hgsc.bcm.edu	37	4	56750089	56750089	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:56750089A>C	ENST00000381295.2	+	10	1673	c.1325A>C	c.(1324-1326)aAg>aCg	p.K442T	EXOC1_ENST00000346134.7_Missense_Mutation_p.K442T|RNU6-652P_ENST00000365488.1_RNA|EXOC1_ENST00000349598.6_Missense_Mutation_p.K442T	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	442					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GAAAGCAAGAAGTTTGGTAAG	0.318																																					p.K442T		Atlas-SNP	.											.	EXOC1	103	.	0			c.A1325C						.						60.0	63.0	62.0					4																	56750089		2203	4299	6502	SO:0001583	missense	55763	exon10			GCAAGAAGTTTGG	AK027047	CCDS3502.1, CCDS3503.1	4q12	2013-01-22	2005-11-01	2005-11-01	ENSG00000090989	ENSG00000090989			30380	protein-coding gene	gene with protein product		607879	"""SEC3-like 1 (S. cerevisiae)"""	SEC3L1		11042152, 11406615	Standard	XM_005265747		Approved	SEC3, FLJ10893, BM-102, Sec3p	uc003hbf.1	Q9NV70	OTTHUMG00000102165	ENST00000381295.2:c.1325A>C	chr4.hg19:g.56750089A>C	ENSP00000370695:p.Lys442Thr	146.0	0.0		430.0	44.0	NM_018261	Q504V4|Q8WUE7|Q96T15|Q9NZE4	Missense_Mutation	SNP	ENST00000381295.2	hg19	CCDS3502.1	.	.	.	.	.	.	.	.	.	.	A	14.79	2.640414	0.47153	.	.	ENSG00000090989	ENST00000381295;ENST00000346134;ENST00000349598	.	.	.	5.91	5.91	0.95273	.	0.041576	0.85682	D	0.000000	T	0.51449	0.1675	L	0.32530	0.975	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.46176	-0.9210	9	0.16896	T	0.51	.	16.3432	0.83101	1.0:0.0:0.0:0.0	.	442;442	Q9NV70-2;Q9NV70	.;EXOC1_HUMAN	T	442	.	ENSP00000326514:K442T	K	+	2	0	EXOC1	56444846	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.962000	0.93254	2.263000	0.75096	0.377000	0.23210	AAG	.	.		0.318	EXOC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361799.1	NM_018261	
CEP135	9662	hgsc.bcm.edu	37	4	56846403	56846403	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:56846403A>T	ENST00000257287.4	+	12	1692	c.1568A>T	c.(1567-1569)cAg>cTg	p.Q523L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	523					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GAAGATATACAGTCCAATGTT	0.289																																					p.Q523L		Atlas-SNP	.											.	CEP135	115	.	0			c.A1568T						.						71.0	74.0	73.0					4																	56846403		2203	4296	6499	SO:0001583	missense	9662	exon12			ATATACAGTCCAA	AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1568A>T	chr4.hg19:g.56846403A>T	ENSP00000257287:p.Gln523Leu	129.0	0.0		401.0	24.0	NM_025009	B2RMY0|O75130|Q58F25|Q9H8H7	Missense_Mutation	SNP	ENST00000257287.4	hg19	CCDS33986.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.387832	0.82902	.	.	ENSG00000174799	ENST00000257287	T	0.57273	0.41	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.73187	0.3555	M	0.78801	2.425	0.58432	D	0.999995	D	0.89917	1.0	D	0.80764	0.994	T	0.74553	-0.3627	10	0.46703	T	0.11	.	16.2813	0.82687	1.0:0.0:0.0:0.0	.	523	Q66GS9	CP135_HUMAN	L	523	ENSP00000257287:Q523L	ENSP00000257287:Q523L	Q	+	2	0	CEP135	56541160	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.121000	0.71602	2.244000	0.73946	0.533000	0.62120	CAG	.	.		0.289	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362092.2	NM_025009	
LPHN3	23284	hgsc.bcm.edu	37	4	62849309	62849309	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:62849309G>T	ENST00000514591.1	+	18	3349	c.3020G>T	c.(3019-3021)gGa>gTa	p.G1007V	LPHN3_ENST00000545650.1_Missense_Mutation_p.G1007V|LPHN3_ENST00000514157.1_Missense_Mutation_p.G1007V|LPHN3_ENST00000514996.1_Missense_Mutation_p.G1007V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G1075V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G1007V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G1075V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G1075V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G1007V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G1075V|LPHN3_ENST00000512091.2_Missense_Mutation_p.G1007V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G1075V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G1075V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G1007V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G1075V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	994					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						AGGAGTTATGGAACAGATAAA	0.383																																					p.G1007V		Atlas-SNP	.											.	LPHN3	800	.	0			c.G3020T						.						179.0	172.0	174.0					4																	62849309		1865	4120	5985	SO:0001583	missense	23284	exon16			GTTATGGAACAGA	AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.3020G>T	chr4.hg19:g.62849309G>T	ENSP00000422533:p.Gly1007Val	80.0	0.0		254.0	22.0	NM_015236	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	ENST00000514591.1	hg19	CCDS54768.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.5|25.5	4.645391|4.645391	0.87859|0.87859	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.47869|.	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83|.	5.82|5.82	5.82|5.82	0.92795|0.92795	GPCR, family 2-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84270|0.84270	0.5435|0.5435	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;1.0|.	D|D	0.85057|0.85057	0.0932|0.0932	10|5	0.87932|.	D|.	0|.	.|.	20.099|20.099	0.97865|0.97865	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1007;994;1007|.	E9PE04;Q9HAR2;Q9HAR2-2|.	.;LPHN3_HUMAN;.|.	V|C	1007;1007;1075;1075;1007;1007;994;1007;1075;1075;1075;1007;1007;1007;1075;1075;1007|464	ENSP00000423388:G1007V;ENSP00000422533:G1007V;ENSP00000423787:G1075V;ENSP00000425033:G1075V;ENSP00000424120:G1007V;ENSP00000439831:G1007V;ENSP00000421476:G1075V;ENSP00000424030:G1075V;ENSP00000421372:G1075V;ENSP00000425201:G1007V;ENSP00000423434:G1007V;ENSP00000421627:G1007V;ENSP00000420931:G1075V;ENSP00000425884:G1075V;ENSP00000424258:G1007V|.	ENSP00000280009:G1007V|.	G|W	+|+	2|3	0|0	LPHN3|LPHN3	62531904|62531904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	9.869000|9.869000	0.99810|0.99810	2.752000|2.752000	0.94435|0.94435	0.655000|0.655000	0.94253|0.94253	GGA|TGG	.	.		0.383	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000361765.1		
TECRL	253017	hgsc.bcm.edu	37	4	65240898	65240898	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:65240898T>C	ENST00000381210.3	-	2	388	c.278A>G	c.(277-279)cAc>cGc	p.H93R	TECRL_ENST00000507440.1_Missense_Mutation_p.H93R	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	93					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						ACATGCTTTGTGAAACTTTTG	0.234																																					p.H93R		Atlas-SNP	.											.	TECRL	106	.	0			c.A278G						.						9.0	10.0	10.0					4																	65240898		2077	4122	6199	SO:0001583	missense	253017	exon2			GCTTTGTGAAACT	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.278A>G	chr4.hg19:g.65240898T>C	ENSP00000370607:p.His93Arg	103.0	0.0		209.0	68.0	NM_001010874		Missense_Mutation	SNP	ENST00000381210.3	hg19	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.053500	0.36181	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.41758	0.99;0.99;0.99	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.65460	0.2693	M	0.87097	2.86	0.46749	D	0.999181	D;D	0.69078	0.997;0.995	D;P	0.63793	0.918;0.878	T	0.70633	-0.4818	10	0.52906	T	0.07	-5.0281	12.1533	0.54062	0.0:0.0:0.0:1.0	.	93;93	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	R	93	ENSP00000426043:H93R;ENSP00000370607:H93R;ENSP00000422497:H93R	ENSP00000370607:H93R	H	-	2	0	TECRL	64923493	1.000000	0.71417	1.000000	0.80357	0.539000	0.34962	4.204000	0.58460	2.131000	0.65755	0.477000	0.44152	CAC	.	.		0.234	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874	
EPHA5	2044	hgsc.bcm.edu	37	4	66218783	66218783	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:66218783C>T	ENST00000273854.3	-	13	2875	c.2275G>A	c.(2275-2277)Ggc>Agc	p.G759S	EPHA5_ENST00000511294.1_Missense_Mutation_p.G760S|EPHA5_ENST00000432638.2_Missense_Mutation_p.G596S|EPHA5_ENST00000354839.4_Missense_Mutation_p.G737S	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	759	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCTAAAGAGCCATTCTCCATA	0.358										TSP Lung(17;0.13)																											p.G759S		Atlas-SNP	.											.	EPHA5	315	.	0			c.G2275A						.						113.0	103.0	107.0					4																	66218783		2203	4300	6503	SO:0001583	missense	2044	exon13			AAGAGCCATTCTC	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2275G>A	chr4.hg19:g.66218783C>T	ENSP00000273854:p.Gly759Ser	95.0	0.0		211.0	98.0	NM_004439	Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	hg19	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	36	5.674796	0.96764	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56	5.73	5.73	0.89815	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.104377	0.42294	D	0.000735	D	0.96411	0.8829	H	0.94306	3.52	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96959	0.9700	10	0.87932	D	0	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	738;760;737;759	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	S	759;596;737;760	ENSP00000273854:G759S;ENSP00000389208:G596S;ENSP00000346899:G737S;ENSP00000427638:G760S	ENSP00000273854:G759S	G	-	1	0	EPHA5	65901378	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.814000	0.86154	2.718000	0.92993	0.585000	0.79938	GGC	.	.		0.358	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
UGT2A1	10941	hgsc.bcm.edu	37	4	70455333	70455333	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:70455333G>T	ENST00000503640.1	-	6	1396	c.1341C>A	c.(1339-1341)caC>caA	p.H447Q	UGT2A1_ENST00000514019.1_Missense_Mutation_p.H613Q|UGT2A1_ENST00000286604.4_Missense_Mutation_p.H447Q|UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.H456Q|UGT2A1_ENST00000512704.1_Missense_Mutation_p.H403Q	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	447					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTGATCATGGTGAATTCTTG	0.398																																					p.H613Q		Atlas-SNP	.											.	UGT2A1	131	.	0			c.C1839A						.						99.0	104.0	103.0					4																	70455333		2203	4300	6503	SO:0001583	missense	10941	exon7			ATCATGGTGAATT	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.1341C>A	chr4.hg19:g.70455333G>T	ENSP00000424478:p.His447Gln	106.0	0.0		311.0	30.0	NM_001252274	B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Missense_Mutation	SNP	ENST00000503640.1	hg19	CCDS3529.1	.	.	.	.	.	.	.	.	.	.	G	16.04	3.009498	0.54361	.	.	ENSG00000173610	ENST00000457664;ENST00000503640;ENST00000512704;ENST00000514019;ENST00000286604	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	4.65	-2.05	0.07321	.	0.050572	0.85682	N	0.000000	T	0.75953	0.3920	M	0.69358	2.11	.	.	.	P;D;D;D;B	0.89917	0.476;0.988;1.0;0.999;0.134	B;P;D;D;B	0.87578	0.159;0.863;0.998;0.994;0.112	T	0.74645	-0.3596	9	0.49607	T	0.09	.	5.8441	0.18652	0.5368:0.0:0.3295:0.1337	.	613;613;403;456;447	E9PDM7;B4E2F4;D6RFW5;Q9Y4X1-2;Q9Y4X1	.;.;.;.;UD2A1_HUMAN	Q	456;447;403;613;447	ENSP00000387888:H456Q;ENSP00000424478:H447Q;ENSP00000421432:H403Q;ENSP00000425497:H613Q;ENSP00000286604:H447Q	ENSP00000286604:H447Q	H	-	3	2	UGT2A1	70489922	0.999000	0.42202	0.946000	0.38457	0.956000	0.61745	0.520000	0.22878	-0.616000	0.05671	0.579000	0.79373	CAC	.	.		0.398	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798	
PRR27	401137	hgsc.bcm.edu	37	4	71024516	71024516	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:71024516C>A	ENST00000344526.5	+	3	736	c.547C>A	c.(547-549)Cct>Act	p.P183T	C4orf40_ENST00000502294.1_Missense_Mutation_p.P183T	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		183	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						TGCAGAGGCACCTGTTGGAGT	0.622																																					p.P183T		Atlas-SNP	.											.	C4orf40	19	.	0			c.C547A						.						48.0	45.0	46.0					4																	71024516		2203	4299	6502	SO:0001583	missense	401137	exon3			GAGGCACCTGTTG																												ENST00000344526.5:c.547C>A	chr4.hg19:g.71024516C>A	ENSP00000343172:p.Pro183Thr	93.0	0.0		250.0	16.0	NM_214711	A8MXP0|Q6MZR6	Missense_Mutation	SNP	ENST00000344526.5	hg19	CCDS3535.1	.	.	.	.	.	.	.	.	.	.	C	9.866	1.197693	0.22037	.	.	ENSG00000187533	ENST00000502294;ENST00000344526	T;T	0.39997	1.05;1.05	3.02	3.02	0.34903	.	.	.	.	.	T	0.47710	0.1460	N	0.24115	0.695	0.22562	N	0.998984	D	0.89917	1.0	D	0.74674	0.984	T	0.33954	-0.9848	9	0.40728	T	0.16	-11.9068	11.8918	0.52633	0.0:1.0:0.0:0.0	.	183	Q6MZM9	CD040_HUMAN	T	183	ENSP00000426249:P183T;ENSP00000343172:P183T	ENSP00000343172:P183T	P	+	1	0	C4orf40	71059105	0.678000	0.27586	0.002000	0.10522	0.008000	0.06430	0.890000	0.28295	1.425000	0.47237	0.400000	0.26472	CCT	.	.		0.622	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1		
MUC7	4589	hgsc.bcm.edu	37	4	71346814	71346814	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:71346814C>T	ENST00000304887.5	+	3	543	c.353C>T	c.(352-354)tCa>tTa	p.S118L	MUC7_ENST00000456088.1_Missense_Mutation_p.S118L|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S118L	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	118	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428																																					p.S118L		Atlas-SNP	.											.	MUC7	91	.	0			c.C353T						.						122.0	115.0	118.0					4																	71346814		2203	4300	6503	SO:0001583	missense	4589	exon4			TCCCATCAGCTTC	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.353C>T	chr4.hg19:g.71346814C>T	ENSP00000302021:p.Ser118Leu	65.0	0.0		211.0	12.0	NM_001145007	Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	hg19	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.704882	0.30232	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	T;T;T;T	0.54479	0.58;0.57;0.58;0.58	3.44	2.57	0.30868	.	.	.	.	.	T	0.52256	0.1723	N	0.24115	0.695	0.09310	N	1	D	0.65815	0.995	P	0.61003	0.882	T	0.39035	-0.9633	9	0.37606	T	0.19	-2.6315	10.1996	0.43075	0.2007:0.7993:0.0:0.0	.	118	Q8TAX7	MUC7_HUMAN	L	118	ENSP00000407422:S118L;ENSP00000427594:S118L;ENSP00000400585:S118L;ENSP00000302021:S118L	ENSP00000302021:S118L	S	+	2	0	MUC7	71381403	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.245000	0.32790	0.991000	0.38814	-0.181000	0.13052	TCA	.	.		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291	
FAM47E-STBD1	100631383	hgsc.bcm.edu	37	4	77230589	77230589	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:77230589G>T	ENST00000237642.6	+	2	1257	c.513G>T	c.(511-513)gaG>gaT	p.E171D	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.E22D	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		GTTTTGCAGAGAAGTTGCCTT	0.443																																					p.E171D		Atlas-SNP	.											.	STBD1	22	.	0			c.G513T						.						52.0	54.0	54.0					4																	77230589		2203	4300	6503	SO:0001583	missense	8987	exon2			TGCAGAGAAGTTG		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.513G>T	chr4.hg19:g.77230589G>T	ENSP00000237642:p.Glu171Asp	65.0	0.0		137.0	15.0	NM_003943		Missense_Mutation	SNP	ENST00000237642.6	hg19	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	2.139	-0.397246	0.04899	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	.	.	.	4.73	-1.64	0.08318	.	0.933364	0.08922	N	0.874297	T	0.23926	0.0579	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.21930	-1.0231	9	0.30078	T	0.28	-0.6048	1.7559	0.02982	0.3423:0.1295:0.3961:0.132	.	171	O95210	STBD1_HUMAN	D	22;171	.	ENSP00000237642:E171D	E	+	3	2	STBD1	77449613	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	-0.073000	0.11468	-0.250000	0.09555	-0.165000	0.13383	GAG	.	.		0.443	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2		
FAM47E-STBD1	100631383	hgsc.bcm.edu	37	4	77230700	77230700	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:77230700G>T	ENST00000237642.6	+	2	1368	c.624G>T	c.(622-624)agG>agT	p.R208S	FAM47E_ENST00000515604.1_3'UTR|FAM47E-STBD1_ENST00000539752.1_Missense_Mutation_p.R59S	NM_003943.4	NP_003934.1			FAM47E-STBD1 readthrough																		TGGTGCCTAGGCACTCATCTT	0.502																																					p.R208S		Atlas-SNP	.											.	STBD1	22	.	0			c.G624T						.						76.0	73.0	74.0					4																	77230700		2203	4300	6503	SO:0001583	missense	8987	exon2			GCCTAGGCACTCA		CCDS58908.1	4q21.1	2013-04-23			ENSG00000118804	ENSG00000118804			44667	other	readthrough							Standard	NM_001242939		Approved				OTTHUMG00000160966	ENST00000237642.6:c.624G>T	chr4.hg19:g.77230700G>T	ENSP00000237642:p.Arg208Ser	72.0	0.0		124.0	11.0	NM_003943		Missense_Mutation	SNP	ENST00000237642.6	hg19	CCDS3578.1	.	.	.	.	.	.	.	.	.	.	G	16.28	3.080052	0.55753	.	.	ENSG00000118804	ENST00000539752;ENST00000237642	.	.	.	4.98	3.22	0.36961	.	0.000000	0.53938	D	0.000050	T	0.60702	0.2289	L	0.54323	1.7	0.34174	D	0.670185	D	0.69078	0.997	P	0.60789	0.879	T	0.70967	-0.4728	9	0.49607	T	0.09	-21.8029	10.2488	0.43356	0.1572:0.0:0.8428:0.0	.	208	O95210	STBD1_HUMAN	S	59;208	.	ENSP00000237642:R208S	R	+	3	2	STBD1	77449724	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	1.565000	0.36386	1.322000	0.45245	0.655000	0.94253	AGG	.	.		0.502	FAM47E-STBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252415.2		
FRAS1	80144	hgsc.bcm.edu	37	4	79455713	79455713	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:79455713C>T	ENST00000264895.6	+	71	11476	c.11036C>T	c.(11035-11037)cCc>cTc	p.P3679L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	3675					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CTAATGGATCCCAATACATCT	0.453																																					p.P3679L		Atlas-SNP	.											.	FRAS1	779	.	0			c.C11036T						.						131.0	118.0	122.0					4																	79455713		1896	4124	6020	SO:0001583	missense	80144	exon71			TGGATCCCAATAC	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.11036C>T	chr4.hg19:g.79455713C>T	ENSP00000264895:p.Pro3679Leu	59.0	0.0		199.0	8.0	NM_025074	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	hg19	CCDS54771.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.401489	0.83120	.	.	ENSG00000138759	ENST00000264895	T	0.14516	2.5	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.39332	0.1074	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28106	-1.0054	10	0.87932	D	0	.	18.4025	0.90522	0.0:1.0:0.0:0.0	.	3679	E9PHH6	.	L	3679	ENSP00000264895:P3679L	ENSP00000264895:P3679L	P	+	2	0	FRAS1	79674737	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.667000	0.83888	2.336000	0.79503	0.591000	0.81541	CCC	.	.		0.453	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
ANXA3	306	hgsc.bcm.edu	37	4	79503384	79503384	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:79503384G>A	ENST00000264908.6	+	5	631	c.252G>A	c.(250-252)atG>atA	p.M84I	ANXA3_ENST00000503570.2_Missense_Mutation_p.M45I|ANXA3_ENST00000512884.1_Missense_Mutation_p.M45I	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	84					defense response to bacterium (GO:0042742)|neutrophil degranulation (GO:0043312)|phagocytosis (GO:0006909)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phospholipase A2 inhibitor activity (GO:0019834)			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGCATCTCATGGTGGCCCTAG	0.453																																					p.M84I	GBM(2;126 157 27790 28920 42492)	Atlas-SNP	.											.	ANXA3	35	.	0			c.G252A						.						87.0	84.0	85.0					4																	79503384		2203	4300	6503	SO:0001583	missense	306	exon5			TCTCATGGTGGCC	M63310	CCDS3584.1	4q21.21	2009-07-10			ENSG00000138772	ENSG00000138772	3.1.4.43	"""Annexins"""	541	protein-coding gene	gene with protein product		106490		ANX3		1830024	Standard	XM_005262973		Approved		uc003hld.3	P12429	OTTHUMG00000130198	ENST00000264908.6:c.252G>A	chr4.hg19:g.79503384G>A	ENSP00000264908:p.Met84Ile	103.0	0.0		219.0	15.0	NM_005139	B2R9W6|Q6LET2	Missense_Mutation	SNP	ENST00000264908.6	hg19	CCDS3584.1	.	.	.	.	.	.	.	.	.	.	G	8.570	0.879933	0.17467	.	.	ENSG00000138772	ENST00000264908;ENST00000512884;ENST00000503570;ENST00000512373;ENST00000514171;ENST00000508214	T;T;T;T;T;T	0.03181	4.02;4.02;4.02;4.02;4.02;4.02	5.16	5.16	0.70880	Annexin repeat, conserved site (1);	0.146214	0.64402	D	0.000009	T	0.03220	0.0094	N	0.16066	0.365	0.51233	D	0.999914	B	0.27117	0.168	B	0.34346	0.18	T	0.32268	-0.9913	10	0.02654	T	1	.	17.5603	0.87905	0.0:0.0:1.0:0.0	.	84	P12429	ANXA3_HUMAN	I	84;45;45;84;84;84	ENSP00000264908:M84I;ENSP00000423068:M45I;ENSP00000421015:M45I;ENSP00000424584:M84I;ENSP00000421512:M84I;ENSP00000422281:M84I	ENSP00000264908:M84I	M	+	3	0	ANXA3	79722408	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	1.792000	0.38754	2.674000	0.91012	0.591000	0.81541	ATG	.	.		0.453	ANXA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252516.3	NM_005139	
FGF5	2250	hgsc.bcm.edu	37	4	81207740	81207740	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:81207740A>C	ENST00000312465.7	+	3	947	c.721A>C	c.(721-723)Agc>Cgc	p.S241R	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	241					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AAAGCCACCTAGCCCTATCAA	0.448																																					p.S241R		Atlas-SNP	.											.	FGF5	49	.	0			c.A721C						.						73.0	71.0	72.0					4																	81207740		2203	4300	6503	SO:0001583	missense	2250	exon3			CCACCTAGCCCTA	M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.721A>C	chr4.hg19:g.81207740A>C	ENSP00000311697:p.Ser241Arg	61.0	0.0		114.0	10.0	NM_004464	B2R554|O75846|Q3Y8M3|Q8NF90	Missense_Mutation	SNP	ENST00000312465.7	hg19	CCDS34021.1	.	.	.	.	.	.	.	.	.	.	A	1.674	-0.508240	0.04231	.	.	ENSG00000138675	ENST00000312465	T	0.74842	-0.88	5.6	1.31	0.21738	.	1.463330	0.03457	N	0.211570	T	0.53706	0.1813	N	0.12182	0.205	0.09310	N	0.999999	B	0.18166	0.026	B	0.16289	0.015	T	0.44360	-0.9333	10	0.28530	T	0.3	.	1.7714	0.03012	0.5301:0.1387:0.0846:0.2466	.	241	P12034	FGF5_HUMAN	R	241	ENSP00000311697:S241R	ENSP00000311697:S241R	S	+	1	0	FGF5	81426764	0.001000	0.12720	0.010000	0.14722	0.093000	0.18481	1.395000	0.34520	0.966000	0.38159	-0.250000	0.11733	AGC	.	.		0.448	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252627.2		
PTPN13	5783	hgsc.bcm.edu	37	4	87643424	87643424	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:87643424G>A	ENST00000411767.2	+	10	1508	c.1445G>A	c.(1444-1446)cGg>cAg	p.R482Q	PTPN13_ENST00000316707.6_Missense_Mutation_p.R482Q|PTPN13_ENST00000436978.1_Missense_Mutation_p.R482Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.R482Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.R482Q			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	482					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ATGCTAAAACGGCAAGAGGAA	0.433																																					p.R482Q		Atlas-SNP	.											.	PTPN13	203	.	0			c.G1445A						.						101.0	93.0	96.0					4																	87643424		1907	4124	6031	SO:0001583	missense	5783	exon10			TAAAACGGCAAGA		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1445G>A	chr4.hg19:g.87643424G>A	ENSP00000407249:p.Arg482Gln	116.0	0.0		268.0	111.0	NM_006264	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	hg19	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.077198	0.76415	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45	4.92	4.92	0.64577	.	0.000000	0.43747	D	0.000534	T	0.53351	0.1791	L	0.56769	1.78	0.45056	D	0.998072	D;D;D;D	0.89917	0.998;1.0;1.0;1.0	D;D;D;D	0.72625	0.928;0.965;0.951;0.978	T	0.56300	-0.8002	10	0.72032	D	0.01	.	18.4798	0.90807	0.0:0.0:1.0:0.0	.	482;482;482;482	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	Q	482;482;482;482;482;450	ENSP00000408368:R482Q;ENSP00000394794:R482Q;ENSP00000322675:R482Q;ENSP00000407249:R482Q;ENSP00000426626:R482Q	ENSP00000322675:R482Q	R	+	2	0	PTPN13	87862448	1.000000	0.71417	0.999000	0.59377	0.542000	0.35054	5.399000	0.66314	2.444000	0.82710	0.655000	0.94253	CGG	.	.		0.433	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1		
GPRIN3	285513	hgsc.bcm.edu	37	4	90170546	90170546	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:90170546G>A	ENST00000609438.1	-	2	1234	c.716C>T	c.(715-717)aCt>aTt	p.T239I	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T239I	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	239								p.T239N(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		AGATTCTCTAGTTAGAGGTTT	0.552																																					p.T239I		Atlas-SNP	.											GPRIN3,NS,carcinoma,0,1	GPRIN3	90	.	1	Substitution - Missense(1)	kidney(1)	c.C716T						.						50.0	55.0	53.0					4																	90170546		2203	4300	6503	SO:0001583	missense	285513	exon2			TCTCTAGTTAGAG	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.716C>T	chr4.hg19:g.90170546G>A	ENSP00000476603:p.Thr239Ile	50.0	0.0		93.0	9.0	NM_198281	Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	hg19	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	10.32	1.318807	0.23994	.	.	ENSG00000185477	ENST00000333209	T	0.10860	2.83	4.93	0.83	0.18854	.	0.807286	0.10088	N	0.717539	T	0.04452	0.0122	N	0.14661	0.345	0.09310	N	1	B	0.30824	0.296	B	0.20955	0.032	T	0.40270	-0.9572	10	0.27785	T	0.31	0.635	1.468	0.02410	0.1827:0.1254:0.4522:0.2398	.	239	Q6ZVF9	GRIN3_HUMAN	I	239	ENSP00000328672:T239I	ENSP00000328672:T239I	T	-	2	0	GPRIN3	90389569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.754000	0.26390	0.311000	0.23014	-0.142000	0.14014	ACT	.	.		0.552	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281	
ADH6	130	hgsc.bcm.edu	37	4	100134799	100134799	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:100134799C>T	ENST00000237653.7	-	3	610	c.226G>A	c.(226-228)Gag>Aag	p.E76K	ADH6_ENST00000394899.2_Missense_Mutation_p.E76K|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000407820.2_Intron|ADH6_ENST00000394897.1_Missense_Mutation_p.E76K|RP11-696N14.1_ENST00000506160.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	76					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	CCAATACTCTCAACGATTCCA	0.473																																					p.E76K		Atlas-SNP	.											.	ADH6	74	.	0			c.G226A						.						157.0	132.0	140.0					4																	100134799		2203	4300	6503	SO:0001583	missense	130	exon3			TACTCTCAACGAT	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.226G>A	chr4.hg19:g.100134799C>T	ENSP00000237653:p.Glu76Lys	81.0	0.0		143.0	8.0	NM_000672	B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	hg19	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	C	13.84	2.356288	0.41700	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.04156	3.69;3.69;3.69;3.69	4.61	1.82	0.25136	GroES-like (1);Alcohol dehydrogenase GroES-like (1);Alcohol dehydrogenase, zinc-type, conserved site (1);	0.099974	0.64402	D	0.000002	T	0.24275	0.0588	M	0.86805	2.84	0.80722	D	1	P;D;D	0.89917	0.954;0.982;1.0	P;P;D	0.91635	0.908;0.852;0.999	T	0.04855	-1.0922	10	0.87932	D	0	-14.4268	15.0639	0.71977	0.0:0.5945:0.4055:0.0	.	76;76;76	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	K	76	ENSP00000378358:E76K;ENSP00000378359:E76K;ENSP00000237653:E76K;ENSP00000426187:E76K	ENSP00000237653:E76K	E	-	1	0	ADH6	100353822	0.998000	0.40836	0.012000	0.15200	0.054000	0.15201	4.067000	0.57527	0.034000	0.15491	-0.802000	0.03209	GAG	.	.		0.473	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1	NM_000672	
DKK2	27123	hgsc.bcm.edu	37	4	107845310	107845310	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:107845310C>T	ENST00000285311.3	-	4	1286	c.581G>A	c.(580-582)tGc>tAc	p.C194Y	DKK2_ENST00000510463.1_Missense_Mutation_p.C148Y|DKK2_ENST00000513208.1_Missense_Mutation_p.C94Y	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	194	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.C194F(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ACGAGCACAGCAAAACCCTTC	0.473																																					p.C194Y		Atlas-SNP	.											DKK2,NS,neuroblastoma,0,1	DKK2	96	.	1	Substitution - Missense(1)	autonomic_ganglia(1)	c.G581A						.						118.0	109.0	112.0					4																	107845310		2203	4300	6503	SO:0001583	missense	27123	exon4			GCACAGCAAAACC	AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.581G>A	chr4.hg19:g.107845310C>T	ENSP00000285311:p.Cys194Tyr	69.0	0.0		191.0	16.0	NM_014421	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	hg19	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610495	0.87258	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	D;T;T	0.81821	-1.54;-0.61;-1.14	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.90807	0.7113	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	D	0.91523	0.5236	10	0.87932	D	0	-8.7032	19.6876	0.95986	0.0:1.0:0.0:0.0	.	194	Q9UBU2	DKK2_HUMAN	Y	194;94;148	ENSP00000285311:C194Y;ENSP00000421255:C94Y;ENSP00000423797:C148Y	ENSP00000285311:C194Y	C	-	2	0	DKK2	108064759	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.487000	0.81328	2.657000	0.90304	0.585000	0.79938	TGC	.	.		0.473	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
ANK2	287	hgsc.bcm.edu	37	4	114274329	114274329	+	Missense_Mutation	SNP	G	G	A	rs200920714		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:114274329G>A	ENST00000357077.4	+	38	4608	c.4555G>A	c.(4555-4557)Gcc>Acc	p.A1519T	ANK2_ENST00000264366.6_Missense_Mutation_p.A1486T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1519	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.A1519T(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAAATGACCGCCATCTTGAC	0.453																																					p.A1519T		Atlas-SNP	.											ANK2,caecum,carcinoma,0,1	ANK2	576	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4555A						.						73.0	74.0	74.0					4																	114274329		2203	4300	6503	SO:0001583	missense	287	exon38			ATGACCGCCATCT	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4555G>A	chr4.hg19:g.114274329G>A	ENSP00000349588:p.Ala1519Thr	49.0	0.0		92.0	6.0	NM_001148	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	hg19	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.810005	0.90707	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.73575	1.87;1.87;-0.76;-0.67	5.83	5.83	0.93111	.	0.000000	0.53938	D	0.000045	D	0.86251	0.5888	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71656	0.92;0.974	D	0.84583	0.0662	10	0.41790	T	0.15	.	20.1195	0.97955	0.0:0.0:1.0:0.0	.	1486;1519	Q01484;Q01484-4	ANK2_HUMAN;.	T	1432;1534;1519;1486	ENSP00000421011:A1432T;ENSP00000424722:A1534T;ENSP00000349588:A1519T;ENSP00000264366:A1486T	ENSP00000264366:A1486T	A	+	1	0	ANK2	114493778	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	6.662000	0.74426	2.759000	0.94783	0.650000	0.86243	GCC	.	G|0.999;T|0.001		0.453	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
PABPC4L	132430	hgsc.bcm.edu	37	4	135121309	135121309	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:135121309C>A	ENST00000421491.3	-	2	1122	c.866G>T	c.(865-867)gGg>gTg	p.G289V	PABPC4L_ENST00000529122.2_Missense_Mutation_p.G347V			P0CB38	PAB4L_HUMAN	poly(A) binding protein, cytoplasmic 4-like	289							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(2)	3						CCCCTGGCACCCACGAATTCG	0.423																																					p.G347V		Atlas-SNP	.											.	PABPC4L	60	.	0			c.G1040T						.						147.0	127.0	133.0					4																	135121309		692	1591	2283	SO:0001583	missense	132430	exon2			TGGCACCCACGAA	AY672099		4q28.3	2013-02-12				ENSG00000254535		"""RNA binding motif (RRM) containing"""	31955	protein-coding gene	gene with protein product							Standard	NM_001114734		Approved		uc010ioe.3	P0CB38		ENST00000421491.3:c.866G>T	chr4.hg19:g.135121309C>A	ENSP00000463233:p.Gly289Val	50.0	0.0		117.0	12.0	NM_001114734		Missense_Mutation	SNP	ENST00000421491.3	hg19																																																																																				.	.		0.423	PABPC4L-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364399.2	NM_001114734	
SMARCA5	8467	hgsc.bcm.edu	37	4	144467138	144467138	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:144467138A>G	ENST00000283131.3	+	19	2920	c.2458A>G	c.(2458-2460)Att>Gtt	p.I820V		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	820					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|chromatin silencing at rDNA (GO:0000183)|DNA-templated transcription, initiation (GO:0006352)|double-strand break repair (GO:0006302)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	chromatin silencing complex (GO:0005677)|condensed chromosome (GO:0000793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NURF complex (GO:0016589)|RSF complex (GO:0031213)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACAGCTTAAAATTGATGAAGC	0.348																																					p.I820V		Atlas-SNP	.											.	SMARCA5	73	.	0			c.A2458G						.						86.0	90.0	88.0					4																	144467138		2203	4300	6503	SO:0001583	missense	8467	exon19			CTTAAAATTGATG	AB010882	CCDS3761.1	4q31.1-q31.2	2011-04-20			ENSG00000153147	ENSG00000153147			11101	protein-coding gene	gene with protein product		603375				9730600	Standard	NM_003601		Approved	hSNF2H, hISWI, ISWI	uc003ijg.3	O60264	OTTHUMG00000161474	ENST00000283131.3:c.2458A>G	chr4.hg19:g.144467138A>G	ENSP00000283131:p.Ile820Val	89.0	0.0		300.0	17.0	NM_003601		Missense_Mutation	SNP	ENST00000283131.3	hg19	CCDS3761.1	.	.	.	.	.	.	.	.	.	.	A	17.30	3.354537	0.61293	.	.	ENSG00000153147	ENST00000283131;ENST00000536484;ENST00000535006	D	0.91464	-2.85	5.3	5.3	0.74995	ATPase, nucleosome remodelling ISWI, HAND domain (2);	0.000000	0.85682	D	0.000000	D	0.88912	0.6566	L	0.56769	1.78	0.58432	D	0.999999	B	0.20368	0.044	B	0.22152	0.038	D	0.85626	0.1267	10	0.37606	T	0.19	-19.4602	15.5566	0.76200	1.0:0.0:0.0:0.0	.	820	O60264	SMCA5_HUMAN	V	820;763;763	ENSP00000283131:I820V	ENSP00000283131:I820V	I	+	1	0	SMARCA5	144686588	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.680000	0.91225	2.136000	0.66102	0.533000	0.62120	ATT	.	.		0.348	SMARCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365077.3		
GYPB	2994	hgsc.bcm.edu	37	4	145039884	145039884	+	Intron	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:145039884T>A	ENST00000283126.7	-	1	93				GYPA_ENST00000535709.1_Missense_Mutation_p.H59L|GYPA_ENST00000512064.1_Intron|GYPA_ENST00000360771.4_Missense_Mutation_p.H85L|GYPA_ENST00000504786.1_Missense_Mutation_p.H53L|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Missense_Mutation_p.H20L|GYPA_ENST00000503627.1_Intron|GYPA_ENST00000324022.10_Missense_Mutation_p.H52L			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AGAGAAATGATGGGCAAGTTG	0.313																																					p.H85L		Atlas-SNP	.											GYPA,right_upper_lobe,carcinoma,0,1	GYPA	27	.	0			c.A254T						.						109.0	109.0	109.0					4																	145039884		2203	4300	6503	SO:0001627	intron_variant	2993	exon4			AAATGATGGGCAA		CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+21867A>T	chr4.hg19:g.145039884T>A		170.0	0.0		662.0	43.0	NM_002099	B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Missense_Mutation	SNP	ENST00000283126.7	hg19		.	.	.	.	.	.	.	.	.	.	T	9.261	1.043323	0.19748	.	.	ENSG00000170180	ENST00000360771;ENST00000324022;ENST00000535709;ENST00000512789;ENST00000504786;ENST00000394119	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	3.94	1.33	0.21861	.	0.000000	0.42682	D	0.000668	T	0.35711	0.0941	M	0.68952	2.095	0.09310	N	1	D;D;D;B;D	0.89917	0.996;0.992;0.999;0.007;1.0	D;D;D;B;D	0.72338	0.934;0.912;0.955;0.022;0.977	T	0.08743	-1.0707	10	0.87932	D	0	-13.6461	4.5091	0.11903	0.1971:0.0:0.2052:0.5976	.	52;20;53;85;85	B8Q185;Q13030;E7EQF3;P02724;Q16336	.;.;.;GLPA_HUMAN;.	L	85;52;59;20;53;53	ENSP00000354003:H85L;ENSP00000324483:H52L;ENSP00000445398:H59L;ENSP00000425193:H20L;ENSP00000425549:H53L	ENSP00000324483:H52L	H	-	2	0	GYPA	145259334	0.029000	0.19370	0.000000	0.03702	0.001000	0.01503	1.046000	0.30354	0.288000	0.22398	0.482000	0.46254	CAT	.	.		0.313	GYPB-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_002100	
ZNF827	152485	hgsc.bcm.edu	37	4	146824067	146824068	+	Missense_Mutation	DNP	GA	GA	TT			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G|A	G|A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:146824067_146824068GA>TT	ENST00000508784.1	-	2	570_571	c.343_344TC>AA	c.(343-345)TCc>AAc	p.S115N	ZNF827_ENST00000379448.4_Missense_Mutation_p.S115N|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GGGCTTGTTGGAGCCTGGGTCA	0.589																																					p.S115Y|p.S115T		Atlas-SNP	.											.	ZNF827	102	.	0			c.C344A|c.T343A						.																																			SO:0001583	missense	152485	exon2			TTGTTGGAGCCTG|TGTTGGAGCCTGG	AK091130	CCDS34072.1	4q31.22	2013-01-08			ENSG00000151612	ENSG00000151612		"""Zinc fingers, C2H2-type"""	27193	protein-coding gene	gene with protein product						12477932	Standard	NM_178835		Approved		uc003ikm.3	Q17R98	OTTHUMG00000161362	ENST00000508784.1:c.343_344delinsTT	chr4.hg19:g.146824067_146824068delinsTT	ENSP00000421863:p.Ser115Asn	32.0	0.0		70.0|69.0	5.0	NM_178835	B7ZL52|Q7Z4S7|Q8N279	Missense_Mutation	SNP	ENST00000508784.1	hg19																																																																																				.	.		0.589	ZNF827-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000364654.2	NM_178835	
ARHGAP10	79658	hgsc.bcm.edu	37	4	148886196	148886196	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:148886196G>A	ENST00000336498.3	+	17	1711	c.1472G>A	c.(1471-1473)cGt>cAt	p.R491H	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.R140H	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	1254					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		CCAGAATCTCGTGTTAATGCG	0.308																																					p.R491H		Atlas-SNP	.											.	ARHGAP10	92	.	0			c.G1472A						.						78.0	76.0	77.0					4																	148886196		2203	4300	6503	SO:0001583	missense	79658	exon17			AATCTCGTGTTAA	BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.1472G>A	chr4.hg19:g.148886196G>A	ENSP00000336923:p.Arg491His	117.0	0.0		353.0	155.0	NM_024605	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	hg19	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.634973	0.67130	.	.	ENSG00000071205	ENST00000336498;ENST00000414545	T;T	0.22743	1.94;1.94	5.55	5.55	0.83447	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.64907	0.2641	H	0.97465	4.01	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.991;0.996	T	0.78548	-0.2162	10	0.87932	D	0	.	19.5156	0.95162	0.0:0.0:1.0:0.0	.	72;140;491	Q86T21;E7EUW5;A1A4S6	.;.;RHG10_HUMAN	H	491;140	ENSP00000336923:R491H;ENSP00000406624:R140H	ENSP00000336923:R491H	R	+	2	0	ARHGAP10	149105646	1.000000	0.71417	0.961000	0.40146	0.122000	0.20287	9.059000	0.93902	2.611000	0.88343	0.561000	0.74099	CGT	.	.		0.308	ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
DCHS2	54798	hgsc.bcm.edu	37	4	155278437	155278437	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:155278437T>C	ENST00000357232.4	-	6	733	c.734A>G	c.(733-735)aAc>aGc	p.N245S	DCHS2_ENST00000339452.1_Intron	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	245	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tgctgaaaagttgacagcact	0.433																																					p.N245S		Atlas-SNP	.											.	DCHS2	594	.	0			c.A734G						.						117.0	122.0	120.0					4																	155278437		2203	4300	6503	SO:0001583	missense	54798	exon6			GAAAAGTTGACAG	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.734A>G	chr4.hg19:g.155278437T>C	ENSP00000349768:p.Asn245Ser	47.0	0.0		66.0	4.0	NM_017639	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	hg19	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.575094	0.00131	.	.	ENSG00000197410	ENST00000357232	T	0.55413	0.52	0.772	-0.951	0.10369	Cadherin (1);	.	.	.	.	T	0.28034	0.0691	N	0.22421	0.69	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.21415	-1.0246	9	0.09338	T	0.73	.	3.0531	0.06175	0.0:0.3566:0.0:0.6434	.	245	Q6V1P9	PCD23_HUMAN	S	245	ENSP00000349768:N245S	ENSP00000349768:N245S	N	-	2	0	DCHS2	155497887	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	-1.189000	0.03061	-0.333000	0.08476	-0.495000	0.04643	AAC	.	.		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552	
NPY2R	4887	hgsc.bcm.edu	37	4	156135578	156135578	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:156135578C>G	ENST00000329476.3	+	2	976	c.487C>G	c.(487-489)Cga>Gga	p.R163G	NPY2R_ENST00000506608.1_Missense_Mutation_p.R163G	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	163					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral fear response (GO:0001662)|cardiac left ventricle morphogenesis (GO:0003214)|locomotory behavior (GO:0007626)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of feeding behavior (GO:2000252)|negative regulation of neurological system process (GO:0031645)|negative regulation of secretion (GO:0051048)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuropeptide signaling pathway (GO:0007218)|nitric oxide mediated signal transduction (GO:0007263)|outflow tract morphogenesis (GO:0003151)|positive regulation of cell adhesion (GO:0045785)|positive regulation of circadian sleep/wake cycle, non-REM sleep (GO:0046010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of peptide secretion (GO:0002793)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of sensory perception of pain (GO:0051930)|secretion (GO:0046903)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel regulator activity (GO:0005246)|neuropeptide Y receptor activity (GO:0004983)|peptide YY receptor activity (GO:0001601)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)			Cysteamine(DB00847)	GATCTCCAAGCGAATCAGCTT	0.552																																					p.R163G		Atlas-SNP	.											NPY2R,right_upper_lobe,carcinoma,0,1	NPY2R	87	.	0			c.C487G						.						55.0	51.0	52.0					4																	156135578		2203	4300	6503	SO:0001583	missense	4887	exon2			TCCAAGCGAATCA	U42766	CCDS3791.1	4q31	2012-08-08				ENSG00000185149		"""GPCR / Class A : Neuropeptide receptors : Y"""	7957	protein-coding gene	gene with protein product		162642				7559383	Standard	NM_000910		Approved		uc003ioq.3	P49146		ENST00000329476.3:c.487C>G	chr4.hg19:g.156135578C>G	ENSP00000332591:p.Arg163Gly	14.0	0.0		70.0	8.0	NM_000910	Q13281|Q13457|Q4W5G7|Q6AZZ6|Q9UE67	Missense_Mutation	SNP	ENST00000329476.3	hg19	CCDS3791.1	.	.	.	.	.	.	.	.	.	.	C	8.336	0.827495	0.16749	.	.	ENSG00000185149	ENST00000329476;ENST00000506608	T;T	0.42131	0.98;0.98	5.74	1.05	0.20165	GPCR, rhodopsin-like superfamily (1);	0.627067	0.16311	N	0.220016	T	0.44993	0.1320	M	0.67953	2.075	0.09310	N	1	B	0.22683	0.073	B	0.28553	0.091	T	0.47935	-0.9078	10	0.46703	T	0.11	.	16.4727	0.84115	0.5564:0.4436:0.0:0.0	.	163	P49146	NPY2R_HUMAN	G	163	ENSP00000332591:R163G;ENSP00000426366:R163G	ENSP00000332591:R163G	R	+	1	2	NPY2R	156355028	0.035000	0.19736	0.221000	0.23827	0.744000	0.42396	0.458000	0.21892	0.190000	0.20209	0.643000	0.83706	CGA	.	.		0.552	NPY2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365128.1	NM_000910	
GRIA2	2891	hgsc.bcm.edu	37	4	158262498	158262499	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:158262498_158262499GC>AA	ENST00000264426.9	+	12	2206_2207	c.1927_1928GC>AA	c.(1927-1929)GCc>AAc	p.A643N	GRIA2_ENST00000296526.7_Missense_Mutation_p.A643N|GRIA2_ENST00000393815.2_Missense_Mutation_p.A596N|GRIA2_ENST00000449365.1_Missense_Mutation_p.A596N|GRIA2_ENST00000507898.1_Missense_Mutation_p.A596N	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	643					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TAACTTAGCTGCCTTCCTGACT	0.455																																					p.A643T|p.A643D		Atlas-SNP	.											.	GRIA2	358	.	0			c.G1927A|c.C1928A						.																																			SO:0001583	missense	2891	exon12			TTAGCTGCCTTCC|TAGCTGCCTTCCT		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	Exception_encountered	chr4.hg19:g.158262498_158262499delinsAA	ENSP00000264426:p.Ala643Asn	163.0|162.0	0.0		385.0|380.0	36.0|35.0	NM_000826	A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	hg19	CCDS43274.1																																																																																			.	.		0.455	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2		
FNIP2	57600	hgsc.bcm.edu	37	4	159790073	159790073	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:159790073A>T	ENST00000264433.6	+	13	2360	c.2285A>T	c.(2284-2286)cAg>cTg	p.Q762L	FNIP2_ENST00000379346.3_Missense_Mutation_p.Q785L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	762	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CAGGACCCGCAGGTTTCTAGG	0.532																																					p.Q762L		Atlas-SNP	.											.	FNIP2	90	.	0			c.A2285T						.						45.0	50.0	49.0					4																	159790073		1933	4140	6073	SO:0001583	missense	57600	exon13			ACCCGCAGGTTTC	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.2285A>T	chr4.hg19:g.159790073A>T	ENSP00000264433:p.Gln762Leu	32.0	0.0		103.0	7.0	NM_020840	Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	hg19	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199874	0.38905	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.24908	1.83;1.83	5.55	-4.96	0.03038	.	1.330380	0.04524	N	0.385205	T	0.22820	0.0551	M	0.74258	2.255	0.09310	N	1	B	0.28933	0.228	B	0.24394	0.053	T	0.25882	-1.0119	9	.	.	.	.	2.2785	0.04108	0.3484:0.2244:0.3184:0.1087	.	762	Q9P278	FNIP2_HUMAN	L	762;785	ENSP00000264433:Q762L;ENSP00000368651:Q785L	.	Q	+	2	0	FNIP2	160009523	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	0.484000	0.22308	-0.736000	0.04831	-1.127000	0.01993	CAG	.	.		0.532	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1	NM_020840	
NPY5R	4889	hgsc.bcm.edu	37	4	164272591	164272591	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:164272591T>A	ENST00000515560.1	+	4	2688	c.1166T>A	c.(1165-1167)gTg>gAg	p.V389E	NPY5R_ENST00000506953.1_Missense_Mutation_p.V389E|NPY5R_ENST00000338566.3_Missense_Mutation_p.V389E			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	389					cardiac left ventricle morphogenesis (GO:0003214)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of ovulation cycle rhythm (GO:0060112)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of smooth muscle cell proliferation (GO:0048661)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				CTTTTCCATGTGGTAACTGAT	0.348																																					p.V389E	Melanoma(139;1287 1774 9781 19750 25599)	Atlas-SNP	.											.	NPY5R	101	.	0			c.T1166A						.						160.0	152.0	155.0					4																	164272591		2203	4300	6503	SO:0001583	missense	4889	exon4			TCCATGTGGTAAC	BC042416	CCDS3804.1	4q31-q32	2012-08-08				ENSG00000164129		"""GPCR / Class A : Neuropeptide receptors : Y"""	7958	protein-coding gene	gene with protein product		602001				8700207, 9417917	Standard	NM_006174		Approved	NPYR5	uc003iqn.3	Q15761		ENST00000515560.1:c.1166T>A	chr4.hg19:g.164272591T>A	ENSP00000423917:p.Val389Glu	77.0	0.0		135.0	13.0	NM_006174	Q6GTR7|Q92916	Missense_Mutation	SNP	ENST00000515560.1	hg19	CCDS3804.1	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453285	0.63290	.	.	ENSG00000164129	ENST00000338566;ENST00000515560;ENST00000506953	T;T;T	0.55930	0.49;0.49;0.49	4.9	3.7	0.42460	GPCR, rhodopsin-like superfamily (1);	0.283599	0.24294	N	0.039799	T	0.63331	0.2502	M	0.68317	2.08	0.35343	D	0.786634	D	0.61080	0.989	P	0.58172	0.834	T	0.74349	-0.3694	10	0.62326	D	0.03	.	11.1021	0.48182	0.0:0.0772:0.0:0.9228	.	389	Q15761	NPY5R_HUMAN	E	389	ENSP00000339377:V389E;ENSP00000423917:V389E;ENSP00000423474:V389E	ENSP00000339377:V389E	V	+	2	0	NPY5R	164492041	1.000000	0.71417	0.999000	0.59377	0.854000	0.48673	5.294000	0.65687	1.966000	0.57179	0.377000	0.23210	GTG	.	.		0.348	NPY5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364633.1	NM_006174	
IRX1	79192	hgsc.bcm.edu	37	5	3599577	3599577	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:3599577C>A	ENST00000302006.3	+	2	567	c.515C>A	c.(514-516)aCg>aAg	p.T172K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	172					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATGACCCTCACGCAGGTCTCC	0.617																																					p.T172K		Atlas-SNP	.											.	IRX1	106	.	0			c.C515A						.						154.0	119.0	131.0					5																	3599577		2203	4300	6503	SO:0001583	missense	79192	exon2			CCCTCACGCAGGT	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.515C>A	chr5.hg19:g.3599577C>A	ENSP00000305244:p.Thr172Lys	97.0	0.0		200.0	31.0	NM_024337	Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	hg19	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936665	0.92458	.	.	ENSG00000170549	ENST00000302006	D	0.90324	-2.65	4.81	4.81	0.61882	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.049539	0.85682	D	0.000000	D	0.92280	0.7551	L	0.36672	1.1	0.80722	D	1	D	0.54964	0.969	P	0.62560	0.904	D	0.93527	0.6866	10	0.87932	D	0	-25.1634	17.5082	0.87753	0.0:1.0:0.0:0.0	.	172	P78414	IRX1_HUMAN	K	172	ENSP00000305244:T172K	ENSP00000305244:T172K	T	+	2	0	IRX1	3652577	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.547000	0.82146	2.173000	0.68751	0.655000	0.94253	ACG	.	.		0.617	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337	
CTNND2	1501	hgsc.bcm.edu	37	5	11082847	11082847	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:11082847G>A	ENST00000304623.8	-	16	2938	c.2749C>T	c.(2749-2751)Cgg>Tgg	p.R917W	CTNND2_ENST00000503622.1_Missense_Mutation_p.R580W|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R826W|CTNND2_ENST00000458100.2_Missense_Mutation_p.R484W|CTNND2_ENST00000359640.2_Missense_Mutation_p.R859W	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	917					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GCCATGTTCCGCAGCGCAGTG	0.522																																					p.R917W		Atlas-SNP	.											CTNND2,NS,carcinoma,0,1	CTNND2	289	.	0			c.C2749T						.						133.0	116.0	121.0					5																	11082847		2203	4300	6503	SO:0001583	missense	1501	exon16			TGTTCCGCAGCGC	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2749C>T	chr5.hg19:g.11082847G>A	ENSP00000307134:p.Arg917Trp	43.0	0.0		110.0	9.0	NM_001332	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	hg19	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.281706	0.80692	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.209202	0.40554	N	0.001070	D	0.87485	0.6189	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.997	D	0.90094	0.4179	10	0.87932	D	0	-22.3756	18.7557	0.91832	0.0:0.0:1.0:0.0	.	580;509;917	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	W	917;859;826;12;484;580	ENSP00000307134:R917W;ENSP00000352661:R859W;ENSP00000426510:R826W;ENSP00000391155:R484W;ENSP00000426887:R580W	ENSP00000307134:R917W	R	-	1	2	CTNND2	11135847	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	3.392000	0.52537	2.505000	0.84491	0.563000	0.77884	CGG	.	.		0.522	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332	
DNAH5	1767	hgsc.bcm.edu	37	5	13770967	13770967	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:13770967T>C	ENST00000265104.4	-	56	9600	c.9496A>G	c.(9496-9498)Aga>Gga	p.R3166G	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3166	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGTCGGAATCTCTGAAAATAA	0.468									Kartagener syndrome																												p.R3166G		Atlas-SNP	.											.	DNAH5	868	.	0			c.A9496G						.						137.0	132.0	134.0					5																	13770967		2203	4300	6503	SO:0001583	missense	1767	exon56	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GGAATCTCTGAAA	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9496A>G	chr5.hg19:g.13770967T>C	ENSP00000265104:p.Arg3166Gly	71.0	0.0		236.0	18.0	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	T	19.49	3.838286	0.71373	.	.	ENSG00000039139	ENST00000265104	T	0.41400	1.0	5.71	4.51	0.55191	Dynein heavy chain, P-loop containing D4 domain (1);	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	M	0.92649	3.33	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.76650	-0.2881	10	0.87932	D	0	.	12.0222	0.53350	0.0:0.0:0.2733:0.7267	.	3166	Q8TE73	DYH5_HUMAN	G	3166	ENSP00000265104:R3166G	ENSP00000265104:R3166G	R	-	1	2	DNAH5	13823967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	2.820000	0.48057	0.933000	0.37291	0.533000	0.62120	AGA	.	.		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PRLR	5618	hgsc.bcm.edu	37	5	35089695	35089695	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:35089695C>T	ENST00000382002.5	-	3	454	c.28G>A	c.(28-30)Gtt>Att	p.V10I	PRLR_ENST00000231423.3_Missense_Mutation_p.V10I|PRLR_ENST00000348262.3_Missense_Mutation_p.V10I|PRLR_ENST00000542609.1_Missense_Mutation_p.V10I|PRLR_ENST00000397391.3_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.V10I|PRLR_ENST00000511486.1_Missense_Mutation_p.V10I|PRLR_ENST00000513753.1_Missense_Mutation_p.V10I|PRLR_ENST00000342362.5_Missense_Mutation_p.V10I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	10					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	AGAGTGAAAACGGTTGCAGAT	0.458																																					p.V10I		Atlas-SNP	.											.	PRLR	90	.	0			c.G28A						.						143.0	130.0	134.0					5																	35089695		2203	4300	6503	SO:0001583	missense	5618	exon3			TGAAAACGGTTGC		CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.28G>A	chr5.hg19:g.35089695C>T	ENSP00000371432:p.Val10Ile	64.0	0.0		86.0	13.0	NM_000949	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	ENST00000382002.5	hg19	CCDS3909.1	.	.	.	.	.	.	.	.	.	.	C	2.780	-0.253654	0.05829	.	.	ENSG00000113494	ENST00000231423;ENST00000513753;ENST00000348262;ENST00000542609;ENST00000342362;ENST00000382002;ENST00000511486;ENST00000310101;ENST00000514206;ENST00000509839;ENST00000503330;ENST00000504500;ENST00000515839	T;T;T;T;D;T;D;T;T;T;T;T;T	0.88354	0.04;0.04;0.04;0.04;-2.37;0.04;-2.37;0.04;0.04;0.04;0.04;0.04;0.04	5.62	1.77	0.24775	.	1.017420	0.07830	N	0.961153	D	0.86045	0.5839	M	0.73962	2.25	0.09310	N	1	P;B;P;P;P	0.50156	0.685;0.022;0.932;0.827;0.827	B;B;B;B;B	0.38020	0.089;0.005;0.263;0.169;0.169	T	0.72054	-0.4406	10	0.27785	T	0.31	-1.1959	8.3729	0.32425	0.0:0.5864:0.0:0.4136	.	10;10;10;10;10	P16471;P16471-2;P16471-7;P16471-6;P16471-4	PRLR_HUMAN;.;.;.;.	I	10	ENSP00000231423:V10I;ENSP00000424841:V10I;ENSP00000311613:V10I;ENSP00000441813:V10I;ENSP00000339213:V10I;ENSP00000371432:V10I;ENSP00000422556:V10I;ENSP00000309008:V10I;ENSP00000423493:V10I;ENSP00000427060:V10I;ENSP00000422385:V10I;ENSP00000422867:V10I;ENSP00000421864:V10I	ENSP00000231423:V10I	V	-	1	0	PRLR	35125452	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.939000	0.03933	0.310000	0.22990	-0.727000	0.03589	GTT	.	.		0.458	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207575.2		
EGFLAM	133584	hgsc.bcm.edu	37	5	38370498	38370498	+	Missense_Mutation	SNP	G	G	T	rs369204325		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:38370498G>T	ENST00000354891.3	+	6	992	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	EGFLAM_ENST00000322350.5_Missense_Mutation_p.V216L	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	216	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CCAGTTTGCCGTGAGGGCAAT	0.567																																					p.V216L	Colon(62;485 1295 3347 17454)	Atlas-SNP	.											.	EGFLAM	302	.	0			c.G646T						.						69.0	64.0	66.0					5																	38370498		2203	4300	6503	SO:0001583	missense	133584	exon6			TTTGCCGTGAGGG	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.646G>T	chr5.hg19:g.38370498G>T	ENSP00000346964:p.Val216Leu	38.0	0.0		154.0	22.0	NM_001205301	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	hg19	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.597961	0.66332	.	.	ENSG00000164318	ENST00000354891;ENST00000322350	T;T	0.72282	-0.64;-0.64	5.82	5.82	0.92795	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058756	0.64402	D	0.000002	T	0.72087	0.3417	M	0.62723	1.935	0.80722	D	1	B;B	0.22909	0.077;0.063	B;B	0.26969	0.075;0.045	T	0.67749	-0.5590	10	0.49607	T	0.09	-0.1892	19.688	0.95987	0.0:0.0:1.0:0.0	.	216;216	Q63HQ2;Q63HQ2-2	EGFLA_HUMAN;.	L	216	ENSP00000346964:V216L;ENSP00000313084:V216L	ENSP00000313084:V216L	V	+	1	0	EGFLAM	38406255	1.000000	0.71417	0.950000	0.38849	0.988000	0.76386	3.223000	0.51231	2.756000	0.94617	0.561000	0.74099	GTG	.	.		0.567	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403	
CCDC152	100129792	hgsc.bcm.edu	37	5	42804757	42804757	+	IGR	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:42804757C>A	ENST00000361970.5	+	0	3431				SEPP1_ENST00000507920.1_Intron|SEPP1_ENST00000506577.1_Splice_Site|SEPP1_ENST00000509276.1_Splice_Site|CTD-2325A15.5_ENST00000606056.1_RNA|SEPP1_ENST00000514985.1_Splice_Site|SEPP1_ENST00000511224.1_Splice_Site	NM_001134848.1	NP_001128320.1	Q4G0S7	CC152_HUMAN	coiled-coil domain containing 152											endometrium(1)	1						CAGAAAAATACCGTGAGAGAG	0.343																																					.		Atlas-SNP	.											.	SEPP1	33	.	0			c.534+1G>T						.						86.0	82.0	83.0					5																	42804757		1800	4072	5872	SO:0001628	intergenic_variant	6414	exon5			AAAATACCGTGAG		CCDS47203.1	5p12	2008-07-14			ENSG00000198865	ENSG00000198865			34438	protein-coding gene	gene with protein product							Standard	NM_001134848		Approved	LOC100129792	uc003jmx.3	Q4G0S7	OTTHUMG00000162141		chr5.hg19:g.42804757C>A		107.0	0.0		295.0	17.0	NM_005410	B3KXI4|B4E0P7|Q5BLP6	Splice_Site	SNP	ENST00000361970.5	hg19	CCDS47203.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.572417	0.65765	.	.	ENSG00000250722	ENST00000514985;ENST00000511224;ENST00000506577;ENST00000514218;ENST00000510965	.	.	.	5.53	4.64	0.57946	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2261	0.82293	0.0:0.8668:0.1332:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SEPP1	42840514	1.000000	0.71417	0.696000	0.30242	0.986000	0.74619	6.174000	0.71943	1.276000	0.44395	0.557000	0.71058	.	.	.		0.343	CCDC152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367497.1	XM_001717416	
PDE4D	5144	hgsc.bcm.edu	37	5	58882174	58882174	+	Intron	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:58882174T>C	ENST00000340635.6	-	1	631				PDE4D_ENST00000502484.2_Intron|PDE4D_ENST00000502575.1_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000507116.1_Intron|PDE4D_ENST00000360047.5_Missense_Mutation_p.R10G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific						adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	GAATGCCTTCTAAAGGGAAAA	0.353																																					p.R10G		Atlas-SNP	.											.	PDE4D	345	.	0			c.A28G						.						258.0	253.0	254.0					5																	58882174		1864	4103	5967	SO:0001627	intron_variant	5144	exon1			GCCTTCTAAAGGG		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.455+306820A>G	chr5.hg19:g.58882174T>C		88.0	0.0		210.0	13.0	NM_006203	O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	hg19	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	T	9.961	1.222890	0.22457	.	.	ENSG00000113448	ENST00000360047	T	0.67865	-0.29	5.64	5.64	0.86602	.	.	.	.	.	T	0.73745	0.3626	.	.	.	0.80722	D	1	P	0.43662	0.814	P	0.51701	0.677	T	0.76119	-0.3076	8	0.62326	D	0.03	.	11.9443	0.52920	0.0:0.0:0.1448:0.8552	.	9	Q08499-2	.	G	10	ENSP00000353152:R10G	ENSP00000353152:R10G	R	-	1	2	PDE4D	58917931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.288000	0.43514	2.367000	0.80283	0.528000	0.53228	AGA	.	.		0.353	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3		
SGTB	54557	hgsc.bcm.edu	37	5	64976616	64976616	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:64976616G>A	ENST00000381007.4	-	7	720	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_019072.2	NP_061945.1	Q96EQ0	SGTB_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, beta	162										large_intestine(3)|lung(3)|skin(3)	9		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Ovarian(174;0.0545)|Breast(144;0.174)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0657)|Lung(70;0.00487)		GGCAGTGAGGGCCAGCCTGAA	0.353																																					p.A162V		Atlas-SNP	.											.	SGTB	22	.	0			c.C485T						.						71.0	69.0	70.0					5																	64976616		2203	4300	6503	SO:0001583	missense	54557	exon7			GTGAGGGCCAGCC	AK096321	CCDS3988.1	5q12.3	2013-01-10			ENSG00000197860	ENSG00000197860		"""Tetratricopeptide (TTC) repeat domain containing"""	23567	protein-coding gene	gene with protein product						12477932	Standard	XM_005248548		Approved	Sgt2, FLJ39002	uc003jud.3	Q96EQ0	OTTHUMG00000097801	ENST00000381007.4:c.485C>T	chr5.hg19:g.64976616G>A	ENSP00000370395:p.Ala162Val	55.0	0.0		136.0	68.0	NM_019072		Missense_Mutation	SNP	ENST00000381007.4	hg19	CCDS3988.1	.	.	.	.	.	.	.	.	.	.	G	34	5.356958	0.95854	.	.	ENSG00000197860	ENST00000381007;ENST00000506816	T;T	0.67171	-0.25;-0.25	5.31	5.31	0.75309	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.114435	0.64402	D	0.000014	D	0.82504	0.5051	M	0.78456	2.415	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.83842	0.0258	10	0.56958	D	0.05	-26.1574	18.9824	0.92760	0.0:0.0:1.0:0.0	.	162	Q96EQ0	SGTB_HUMAN	V	162	ENSP00000370395:A162V;ENSP00000421447:A162V	ENSP00000370395:A162V	A	-	2	0	SGTB	65012372	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.444000	0.97578	2.496000	0.84212	0.557000	0.71058	GCC	.	.		0.353	SGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215057.2	NM_019072	
AGGF1	55109	hgsc.bcm.edu	37	5	76342270	76342270	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:76342270C>T	ENST00000312916.7	+	6	1351	c.969C>T	c.(967-969)ggC>ggT	p.G323G		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	323					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		CCAAAATAGGCATTCATCACA	0.363																																					p.G323G		Atlas-SNP	.											.	AGGF1	71	.	0			c.C969T						.						112.0	120.0	117.0					5																	76342270		2203	4300	6503	SO:0001819	synonymous_variant	55109	exon6			AATAGGCATTCAT	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.969C>T	chr5.hg19:g.76342270C>T		84.0	0.0		213.0	17.0	NM_018046	O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	hg19	CCDS4035.1																																																																																			.	.		0.363	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
GPR98	84059	hgsc.bcm.edu	37	5	89910835	89910835	+	Splice_Site	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:89910835C>A	ENST00000405460.2	+	2	302	c.206C>A	c.(205-207)tCg>tAg	p.S69*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	69	Calx-beta 1. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAATTGTATCGGTAAGAAAT	0.308																																					p.S69X		Atlas-SNP	.											.	GPR98	605	.	0			c.C206A						.						46.0	41.0	43.0					5																	89910835		1804	4056	5860	SO:0001630	splice_region_variant	84059	exon2			TTGTATCGGTAAG	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.207+1C>A	chr5.hg19:g.89910835C>A		65.0	0.0		208.0	16.0	NM_032119	O75171|Q8TF58|Q9H0X5|Q9UL61	Nonsense_Mutation	SNP	ENST00000405460.2	hg19	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.034704	0.93575	.	.	ENSG00000164199	ENST00000508842;ENST00000405460;ENST00000296619;ENST00000399043	.	.	.	5.98	5.98	0.97165	.	0.167402	0.48286	D	0.000194	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	.	15.2005	0.73132	0.1408:0.8592:0.0:0.0	.	.	.	.	X	73;69;69;69	.	ENSP00000296619:S69X	S	+	2	0	GPR98	89946591	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.714000	0.47202	2.838000	0.97847	0.591000	0.81541	TCG	.	.		0.308	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Nonsense_Mutation
ELL2	22936	hgsc.bcm.edu	37	5	95226823	95226823	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:95226823C>A	ENST00000237853.4	-	10	2094	c.1745G>T	c.(1744-1746)gGc>gTc	p.G582V	ELL2_ENST00000431061.2_Missense_Mutation_p.G332V	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	582					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTCTTTTGAGCCTGGAGAAAG	0.428																																					p.G582V		Atlas-SNP	.											.	ELL2	63	.	0			c.G1745T						.						198.0	195.0	196.0					5																	95226823		2203	4300	6503	SO:0001583	missense	22936	exon10			TTTGAGCCTGGAG	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1745G>T	chr5.hg19:g.95226823C>A	ENSP00000237853:p.Gly582Val	91.0	0.0		172.0	15.0	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	hg19	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.1|28.1	4.888928|4.888928	0.91814|0.91814	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000508757|ENST00000237853;ENST00000431061	.|T;T	.|0.26223	.|1.75;1.75	6.16|6.16	6.16|6.16	0.99307|0.99307	.|Occludin/RNA polymerase II elongation factor, ELL domain (1);	.|0.043393	.|0.85682	.|D	.|0.000000	T|T	0.62490|0.62490	0.2432|0.2432	M|M	0.90369|0.90369	3.11|3.11	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.67225|0.67225	-0.5724|-0.5724	5|10	.|0.87932	.|D	.|0	-1.8572|-1.8572	20.4549|20.4549	0.99139|0.99139	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|582	.|O00472	.|ELL2_HUMAN	S|V	100|582;332	.|ENSP00000237853:G582V;ENSP00000399704:G332V	.|ENSP00000237853:G582V	A|G	-|-	1|2	0|0	ELL2|ELL2	95252579|95252579	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.989000|0.989000	0.77384|0.77384	6.066000|6.066000	0.71185|0.71185	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	GCT|GGC	.	.		0.428	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
ELL2	22936	hgsc.bcm.edu	37	5	95226961	95226961	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:95226961A>T	ENST00000237853.4	-	10	1956	c.1607T>A	c.(1606-1608)gTc>gAc	p.V536D	ELL2_ENST00000431061.2_Missense_Mutation_p.V286D	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	536					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CTCATAGGAGACGATAGCGAT	0.363																																					p.V536D		Atlas-SNP	.											ELL2,caecum,carcinoma,0,1	ELL2	63	.	0			c.T1607A						.						115.0	109.0	111.0					5																	95226961		2203	4300	6503	SO:0001583	missense	22936	exon10			TAGGAGACGATAG	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1607T>A	chr5.hg19:g.95226961A>T	ENSP00000237853:p.Val536Asp	50.0	0.0		86.0	11.0	NM_012081	B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	hg19	CCDS4080.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.040378|4.040378	0.75732|0.75732	.|.	.|.	ENSG00000118985|ENSG00000118985	ENST00000508757|ENST00000237853;ENST00000431061	.|T;T	.|0.23552	.|1.9;1.9	5.7|5.7	5.7|5.7	0.88788|0.88788	.|Occludin/RNA polymerase II elongation factor, ELL domain (1);	.|0.166029	.|0.53938	.|D	.|0.000056	T|T	0.48333|0.48333	0.1494|0.1494	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.69078	.|0.997	.|D	.|0.72625	.|0.978	T|T	0.41716|0.41716	-0.9493|-0.9493	5|10	.|0.46703	.|T	.|0.11	-0.2399|-0.2399	15.6217|15.6217	0.76810|0.76810	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|536	.|O00472	.|ELL2_HUMAN	T|D	54|536;286	.|ENSP00000237853:V536D;ENSP00000399704:V286D	.|ENSP00000237853:V536D	S|V	-|-	1|2	0|0	ELL2|ELL2	95252717|95252717	0.999000|0.999000	0.42202|0.42202	0.998000|0.998000	0.56505|0.56505	0.932000|0.932000	0.56968|0.56968	2.556000|2.556000	0.45862|0.45862	2.168000|2.168000	0.68352|0.68352	0.528000|0.528000	0.53228|0.53228	TCT|GTC	.	.		0.363	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
REEP5	7905	hgsc.bcm.edu	37	5	112238112	112238112	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:112238112A>G	ENST00000379638.4	-	3	664	c.316T>C	c.(316-318)Ttc>Ctc	p.F106L	REEP5_ENST00000474542.2_5'UTR|REEP5_ENST00000513339.1_Missense_Mutation_p.F106L|REEP5_ENST00000545426.1_Missense_Mutation_p.F106L|REEP5_ENST00000504247.1_Intron	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	106						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CATGACAGGAAGATATCAGAG	0.418																																					p.F106L		Atlas-SNP	.											.	REEP5	12	.	0			c.T316C						.						162.0	141.0	148.0					5																	112238112		2202	4300	6502	SO:0001583	missense	7905	exon3			ACAGGAAGATATC	BC000232	CCDS4109.2	5q22-q23	2008-02-05	2006-02-07	2006-02-07	ENSG00000129625	ENSG00000129625		"""Receptor accessory proteins"""	30077	protein-coding gene	gene with protein product	"""deleted in polyposis 1"", ""polyposis locus protein 1"", ""polyposis coli region hypothetical protein DP1"""	125265	"""chromosome 5 open reading frame 18"""	C5orf18		16271481, 15550249	Standard	NM_005669		Approved	DP1, TB2, D5S346	uc003kqe.1	Q00765	OTTHUMG00000128807	ENST00000379638.4:c.316T>C	chr5.hg19:g.112238112A>G	ENSP00000368959:p.Phe106Leu	66.0	0.0		196.0	17.0	NM_005669	B7Z681|D3DT04|Q04198|Q5QGT0|Q9BWH9	Missense_Mutation	SNP	ENST00000379638.4	hg19	CCDS4109.2	.	.	.	.	.	.	.	.	.	.	A	9.689	1.151291	0.21371	.	.	ENSG00000129625	ENST00000379638;ENST00000513339;ENST00000545426;ENST00000261482	D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.89	5.73	5.73	0.89815	.	0.043741	0.85682	D	0.000000	T	0.80270	0.4592	N	0.03948	-0.315	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.13407	0.009;0.009;0.006	T	0.76206	-0.3044	10	0.02654	T	1	-14.5387	16.0233	0.80516	1.0:0.0:0.0:0.0	.	106;79;106	B7Z510;B7Z2A3;Q00765	.;.;REEP5_HUMAN	L	106;106;106;97	ENSP00000368959:F106L;ENSP00000425901:F106L;ENSP00000442940:F106L;ENSP00000261482:F97L	ENSP00000261482:F97L	F	-	1	0	REEP5	112266011	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.401000	0.79962	2.186000	0.69663	0.533000	0.62120	TTC	.	.		0.418	REEP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250739.2	NM_005669	
FEM1C	56929	hgsc.bcm.edu	37	5	114861063	114861063	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:114861063A>C	ENST00000274457.3	-	3	1357	c.796T>G	c.(796-798)Ttg>Gtg	p.L266V		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	266					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		CAGTATTTCAAAGCCCCAAGC	0.398																																					p.L266V		Atlas-SNP	.											.	FEM1C	50	.	0			c.T796G						.						122.0	118.0	119.0					5																	114861063		2202	4300	6502	SO:0001583	missense	56929	exon3			ATTTCAAAGCCCC		CCDS4118.1	5q22	2013-01-10	2006-11-08		ENSG00000145780	ENSG00000145780		"""Ankyrin repeat domain containing"""	16933	protein-coding gene	gene with protein product		608767				14527725, 11733146	Standard	NM_020177		Approved	KIAA1785, EUROIMAGE686608, EUROIMAGE783647, FEM1A	uc003krb.1	Q96JP0	OTTHUMG00000128895	ENST00000274457.3:c.796T>G	chr5.hg19:g.114861063A>C	ENSP00000274457:p.Leu266Val	99.0	0.0		282.0	12.0	NM_020177	B2RE47|Q8N3V8|Q9H704|Q9NPL6|Q9NPL9	Missense_Mutation	SNP	ENST00000274457.3	hg19	CCDS4118.1	.	.	.	.	.	.	.	.	.	.	A	6.694	0.496617	0.12762	.	.	ENSG00000145780	ENST00000274457	T	0.74947	-0.89	5.76	2.16	0.27623	.	0.000000	0.64402	D	0.000001	T	0.62551	0.2437	L	0.53617	1.68	0.42902	D	0.994231	P	0.39940	0.696	B	0.32022	0.139	T	0.60073	-0.7334	10	0.46703	T	0.11	-11.6108	8.9579	0.35829	0.7232:0.0:0.2768:0.0	.	266	Q96JP0	FEM1C_HUMAN	V	266	ENSP00000274457:L266V	ENSP00000274457:L266V	L	-	1	2	FEM1C	114888962	0.989000	0.36119	0.999000	0.59377	0.519000	0.34347	1.705000	0.37867	0.456000	0.26937	0.528000	0.53228	TTG	.	.		0.398	FEM1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250857.3	NM_020177	
DMXL1	1657	hgsc.bcm.edu	37	5	118485268	118485268	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:118485268C>T	ENST00000311085.8	+	18	3826	c.3746C>T	c.(3745-3747)cCt>cTt	p.P1249L	DMXL1_ENST00000539542.1_Missense_Mutation_p.P1249L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1249										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAACAAGAACCTGTTATAACA	0.423																																					p.P1249L		Atlas-SNP	.											.	DMXL1	268	.	0			c.C3746T						.						85.0	79.0	81.0					5																	118485268		2202	4300	6502	SO:0001583	missense	1657	exon18			AAGAACCTGTTAT	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.3746C>T	chr5.hg19:g.118485268C>T	ENSP00000309690:p.Pro1249Leu	45.0	0.0		108.0	8.0	NM_005509		Missense_Mutation	SNP	ENST00000311085.8	hg19	CCDS4125.1	.	.	.	.	.	.	.	.	.	.	C	1.114	-0.657206	0.03480	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.09350	2.99;2.99	5.39	3.61	0.41365	.	0.469142	0.25487	N	0.030325	T	0.07683	0.0193	N	0.25647	0.755	0.34149	D	0.667335	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.17592	-1.0364	10	0.27785	T	0.31	-4.4666	9.6826	0.40078	0.0:0.7593:0.0:0.2407	.	1249;1249	F5H269;Q9Y485	.;DMXL1_HUMAN	L	1249	ENSP00000309690:P1249L;ENSP00000439479:P1249L	ENSP00000309690:P1249L	P	+	2	0	DMXL1	118513167	0.001000	0.12720	0.922000	0.36590	0.995000	0.86356	1.124000	0.31320	0.773000	0.33404	0.655000	0.94253	CCT	.	.		0.423	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509	
PRR16	51334	hgsc.bcm.edu	37	5	120021691	120021691	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:120021691G>C	ENST00000407149.2	+	2	411	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	PRR16_ENST00000505123.1_5'UTR|PRR16_ENST00000379551.2_Missense_Mutation_p.E45Q|PRR16_ENST00000446965.1_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	68					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		CCTACAGCTGGAGGATGAGAT	0.468																																					p.E45Q		Atlas-SNP	.											.	PRR16	71	.	0			c.G133C						.						101.0	92.0	95.0					5																	120021691		2203	4300	6503	SO:0001583	missense	51334	exon3			CAGCTGGAGGATG	AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.202G>C	chr5.hg19:g.120021691G>C	ENSP00000385118:p.Glu68Gln	35.0	0.0		39.0	19.0	NM_016644	D3DSZ0|Q8IXY1|Q9NYI5	Missense_Mutation	SNP	ENST00000407149.2	hg19		.	.	.	.	.	.	.	.	.	.	G	23.1	4.370371	0.82573	.	.	ENSG00000184838	ENST00000407149;ENST00000379551	T;T	0.57436	0.4;0.4	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.68622	0.3021	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.66622	-0.5877	9	.	.	.	-4.021	17.7817	0.88526	0.0:0.0:1.0:0.0	.	68;45	Q569H4;Q569H4-3	PRR16_HUMAN;.	Q	68;45	ENSP00000385118:E68Q;ENSP00000368869:E45Q	.	E	+	1	0	PRR16	120049590	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.338000	0.96553	2.568000	0.86640	0.555000	0.69702	GAG	.	.		0.468	PRR16-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371059.1	NM_016644	
FAM53C	51307	hgsc.bcm.edu	37	5	137681062	137681062	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:137681062C>T	ENST00000239906.5	+	4	1113	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron|FAM53C_ENST00000434981.2_Missense_Mutation_p.R229C|RP11-256P1.1_ENST00000504539.1_RNA	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	229										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCACCTCAGCGCCGCTTCTC	0.677																																					p.R229C		Atlas-SNP	.											.	FAM53C	35	.	0			c.C685T						.						85.0	97.0	93.0					5																	137681062		2203	4300	6503	SO:0001583	missense	51307	exon4			CCTCAGCGCCGCT	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.685C>T	chr5.hg19:g.137681062C>T	ENSP00000239906:p.Arg229Cys	25.0	0.0		71.0	5.0	NM_001135647	B2RDJ5|D3DQB9	Missense_Mutation	SNP	ENST00000239906.5	hg19	CCDS4204.1	.	.	.	.	.	.	.	.	.	.	C	19.99	3.929458	0.73327	.	.	ENSG00000120709	ENST00000434981;ENST00000239906	T;T	0.57907	0.37;0.37	5.55	5.55	0.83447	.	0.252298	0.39834	N	0.001253	T	0.70937	0.3281	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	T	0.70156	-0.4949	9	.	.	.	-9.4919	18.4386	0.90656	0.0:1.0:0.0:0.0	.	229	Q9NYF3	FA53C_HUMAN	C	229	ENSP00000403705:R229C;ENSP00000239906:R229C	.	R	+	1	0	FAM53C	137708961	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.135000	0.50546	2.894000	0.99253	0.655000	0.94253	CGC	.	.		0.677	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251278.2	NM_016605	
PCDHAC2	56134	hgsc.bcm.edu	37	5	140347607	140347607	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:140347607A>G	ENST00000289269.5	+	1	1788	c.1256A>G	c.(1255-1257)tAt>tGt	p.Y419C	PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	419	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAACTCCTATACACTGGTG	0.577																																					p.Y419C	Melanoma(190;638 2083 3390 11909 52360)	Atlas-SNP	.											.	PCDHAC2	142	.	0			c.A1256G						.						90.0	89.0	89.0					5																	140347607		2203	4300	6503	SO:0001583	missense	56134	exon1			ACTCCTATACACT	AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1256A>G	chr5.hg19:g.140347607A>G	ENSP00000289269:p.Tyr419Cys	22.0	0.0		75.0	11.0	NM_031883	Q2M3V1|Q9Y5F4	Missense_Mutation	SNP	ENST00000289269.5	hg19	CCDS4242.1	.	.	.	.	.	.	.	.	.	.	A	10.47	1.358951	0.24598	.	.	ENSG00000243232	ENST00000289269	T	0.68181	-0.31	5.82	5.82	0.92795	Cadherin (4);Cadherin-like (1);	0.000000	0.38164	N	0.001799	D	0.88115	0.6350	H	0.97077	3.935	0.58432	D	0.999995	D;D	0.89917	0.999;1.0	D;D	0.97110	0.97;1.0	D	0.92032	0.5634	10	0.87932	D	0	.	16.1728	0.81831	1.0:0.0:0.0:0.0	.	419;419	Q9Y5I4-2;Q9Y5I4	.;PCDC2_HUMAN	C	419	ENSP00000289269:Y419C	ENSP00000289269:Y419C	Y	+	2	0	PCDHAC2	140327791	1.000000	0.71417	0.978000	0.43139	0.029000	0.11900	5.199000	0.65152	2.228000	0.72767	0.533000	0.62120	TAT	.	.		0.577	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2	NM_018899	
PCDHGC5	56097	hgsc.bcm.edu	37	5	140871119	140871119	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:140871119G>A	ENST00000252087.1	+	1	2312	c.2312G>A	c.(2311-2313)aGc>aAc	p.S771N	PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	771					homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCGCAGAGCCACTGCTAC	0.612																																					p.S771N		Atlas-SNP	.											.	PCDHGC5	199	.	0			c.G2312A						.						43.0	43.0	43.0					5																	140871119		2203	4300	6503	SO:0001583	missense	56097	exon1			CGCAGAGCCACTG	AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.2312G>A	chr5.hg19:g.140871119G>A	ENSP00000252087:p.Ser771Asn	42.0	0.0		84.0	24.0	NM_018929	Q9Y5C2	Missense_Mutation	SNP	ENST00000252087.1	hg19	CCDS4263.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.609920	0.46527	.	.	ENSG00000240764	ENST00000252087	T	0.48836	0.8	5.07	4.2	0.49525	.	0.000000	0.64402	D	0.000011	T	0.44767	0.1309	L	0.60067	1.865	0.34479	D	0.703668	P;B	0.35272	0.493;0.046	B;B	0.36186	0.219;0.019	T	0.57545	-0.7793	10	0.29301	T	0.29	.	13.4065	0.60915	0.0:0.1588:0.8412:0.0	.	771;771	Q9Y5F6-2;Q9Y5F6	.;PCDGM_HUMAN	N	771	ENSP00000252087:S771N	ENSP00000252087:S771N	S	+	2	0	PCDHGC5	140851303	0.964000	0.33143	0.960000	0.40013	0.813000	0.45954	1.808000	0.38912	1.355000	0.45865	0.555000	0.69702	AGC	.	.		0.612	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251819.1	NM_018929	
FBXO38	81545	hgsc.bcm.edu	37	5	147819259	147819259	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:147819259A>G	ENST00000340253.5	+	19	3242	c.3074A>G	c.(3073-3075)tAt>tGt	p.Y1025C	FBXO38_ENST00000296701.6_Missense_Mutation_p.Y780C|FBXO38_ENST00000394370.3_Missense_Mutation_p.Y950C|FBXO38_ENST00000513826.1_Missense_Mutation_p.Y780C			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1025					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTACCCCTATCACATCTGT	0.428																																					p.Y950C		Atlas-SNP	.											.	FBXO38	115	.	0			c.A2849G						.						128.0	121.0	123.0					5																	147819259		2203	4300	6503	SO:0001583	missense	81545	exon19			ACCCCTATCACAT	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3074A>G	chr5.hg19:g.147819259A>G	ENSP00000342023:p.Tyr1025Cys	83.0	0.0		186.0	57.0	NM_030793	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	hg19		.	.	.	.	.	.	.	.	.	.	A	23.2	4.383309	0.82792	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.40476	1.03;1.19;1.14;1.19	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.53753	0.1816	L	0.34521	1.04	0.34301	D	0.684307	D;D;D	0.76494	0.999;0.996;0.997	D;P;D	0.79784	0.993;0.8;0.912	T	0.66724	-0.5851	10	0.72032	D	0.01	-16.9523	14.7245	0.69332	1.0:0.0:0.0:0.0	.	780;950;1025	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	C	1025;780;950;780	ENSP00000342023:Y1025C;ENSP00000296701:Y780C;ENSP00000377895:Y950C;ENSP00000426410:Y780C	ENSP00000296701:Y780C	Y	+	2	0	FBXO38	147799452	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.696000	0.91302	2.213000	0.71641	0.528000	0.53228	TAT	.	.		0.428	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793	
SH3TC2	79628	hgsc.bcm.edu	37	5	148406879	148406879	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:148406879A>G	ENST00000515425.1	-	11	2517	c.2416T>C	c.(2416-2418)Tat>Cat	p.Y806H	SH3TC2_ENST00000394358.2_Missense_Mutation_p.Y691H|SH3TC2_ENST00000512049.1_Missense_Mutation_p.Y799H|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.Y353H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	806					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTAAGAGATAGGCCCATGCC	0.562																																					p.Y806H		Atlas-SNP	.											.	SH3TC2	178	.	0			c.T2416C						.						57.0	61.0	60.0					5																	148406879		2203	4300	6503	SO:0001583	missense	79628	exon11			AGAGATAGGCCCA	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2416T>C	chr5.hg19:g.148406879A>G	ENSP00000423660:p.Tyr806His	36.0	0.0		91.0	4.0	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	0.444	-0.897252	0.02472	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.79940	-0.05;-1.32;-1.32;-0.05	6.16	2.51	0.30379	Tetratricopeptide-like helical (1);	0.323596	0.30704	N	0.009058	T	0.72606	0.3481	L	0.59436	1.845	0.28519	N	0.913187	B;B;B;B	0.34181	0.256;0.44;0.139;0.44	B;B;B;B	0.27500	0.043;0.08;0.025;0.08	T	0.63368	-0.6653	10	0.41790	T	0.15	-4.4206	10.2947	0.43616	0.6913:0.0:0.3087:0.0	.	691;799;806;806	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	H	353;806;799;691	ENSP00000441427:Y353H;ENSP00000423660:Y806H;ENSP00000421860:Y799H;ENSP00000377886:Y691H	ENSP00000377886:Y691H	Y	-	1	0	SH3TC2	148387072	1.000000	0.71417	0.992000	0.48379	0.084000	0.17831	1.894000	0.39768	0.207000	0.20607	-0.911000	0.02809	TAT	.	.		0.562	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
SH3TC2	79628	hgsc.bcm.edu	37	5	148411195	148411195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:148411195C>A	ENST00000515425.1	-	9	1158	c.1057G>T	c.(1057-1059)Gga>Tga	p.G353*	SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.G238*|SH3TC2_ENST00000512049.1_Nonsense_Mutation_p.G346*|SH3TC2_ENST00000513340.1_5'UTR|SH3TC2_ENST00000538184.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	353					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCACTTCCCAGGGCCAAC	0.527																																					p.G353X		Atlas-SNP	.											.	SH3TC2	178	.	0			c.G1057T						.						160.0	128.0	139.0					5																	148411195		2203	4300	6503	SO:0001587	stop_gained	79628	exon9			CACTTCCCAGGGC	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.1057G>T	chr5.hg19:g.148411195C>A	ENSP00000423660:p.Gly353*	56.0	0.0		138.0	15.0	NM_024577	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	ENST00000515425.1	hg19	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.865918	0.91511	.	.	ENSG00000169247	ENST00000515425;ENST00000512049;ENST00000394358	.	.	.	5.53	4.66	0.58398	.	0.208186	0.44097	D	0.000488	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.565	0.39394	0.1737:0.7505:0.0:0.0758	.	.	.	.	X	353;346;238	.	ENSP00000377886:G238X	G	-	1	0	SH3TC2	148391388	0.677000	0.27577	0.719000	0.30619	0.397000	0.30659	1.260000	0.32968	1.468000	0.48064	0.563000	0.77884	GGA	.	.		0.527	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577	
PDGFRB	5159	hgsc.bcm.edu	37	5	149497264	149497264	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:149497264G>T	ENST00000261799.4	-	22	3523	c.3054C>A	c.(3052-3054)gaC>gaA	p.D1018E		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	1018					adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TATAGTCGTTGTCACCCTCAT	0.637			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.D1018E		Atlas-SNP	.		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	PDGFRB	142	.	0			c.C3054A						.						103.0	100.0	101.0					5																	149497264		2203	4300	6503	SO:0001583	missense	5159	exon22			GTCGTTGTCACCC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.3054C>A	chr5.hg19:g.149497264G>T	ENSP00000261799:p.Asp1018Glu	35.0	0.0		50.0	19.0	NM_002609	B5A957|Q8N5L4	Missense_Mutation	SNP	ENST00000261799.4	hg19	CCDS4303.1	.	.	.	.	.	.	.	.	.	.	G	14.05	2.421141	0.42918	.	.	ENSG00000113721	ENST00000261799;ENST00000544453	T	0.75260	-0.92	5.26	4.33	0.51752	.	0.000000	0.53938	D	0.000055	T	0.50531	0.1621	N	0.08118	0	0.31525	N	0.661856	B;B	0.32245	0.361;0.036	B;B	0.28784	0.094;0.012	T	0.57860	-0.7738	10	0.38643	T	0.18	.	9.0691	0.36482	0.0819:0.248:0.6701:0.0	.	1018;1018	A8KAM8;P09619	.;PGFRB_HUMAN	E	1018;688	ENSP00000261799:D1018E	ENSP00000261799:D1018E	D	-	3	2	PDGFRB	149477457	1.000000	0.71417	0.994000	0.49952	0.884000	0.51177	2.350000	0.44063	2.465000	0.83290	0.655000	0.94253	GAC	.	.		0.637	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
WWC1	23286	hgsc.bcm.edu	37	5	167891765	167891765	+	Missense_Mutation	SNP	G	G	A	rs139653620		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:167891765G>A	ENST00000265293.4	+	21	3450	c.2948G>A	c.(2947-2949)cGt>cAt	p.R983H	WWC1_ENST00000521089.1_Missense_Mutation_p.R989H|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	983	Interaction with PRKCZ.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)	p.R983H(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGCTCCGAGCGTCTGATCCGT	0.602																																					p.R989H		Atlas-SNP	.											WWC1,colon,carcinoma,0,2	WWC1	98	.	1	Substitution - Missense(1)	ovary(1)	c.G2966A						.	G	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	54.0	53.0	53.0		2966,2966,2948	4.1	1.0	5	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	WWC1	NM_001161661.1,NM_001161662.1,NM_015238.2	29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	989/1120,989/1119,983/1114	167891765	1,13005	2203	4300	6503	SO:0001583	missense	23286	exon21			CCGAGCGTCTGAT	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2948G>A	chr5.hg19:g.167891765G>A	ENSP00000265293:p.Arg983His	42.0	0.0		130.0	6.0	NM_001161662	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	hg19	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	11.85	1.760611	0.31137	0.0	1.16E-4	ENSG00000113645	ENST00000265293;ENST00000521089;ENST00000524038	T;T;T	0.42131	0.98;0.98;0.98	4.99	4.12	0.48240	.	0.129675	0.56097	D	0.000032	T	0.30947	0.0781	L	0.33485	1.01	0.50632	D	0.999882	B;B	0.21821	0.061;0.01	B;B	0.16722	0.016;0.005	T	0.05971	-1.0853	10	0.18276	T	0.48	.	13.4327	0.61064	0.076:0.0:0.924:0.0	.	989;983	Q8IX03-2;Q8IX03	.;KIBRA_HUMAN	H	983;989;315	ENSP00000265293:R983H;ENSP00000427772:R989H;ENSP00000428084:R315H	ENSP00000265293:R983H	R	+	2	0	WWC1	167824343	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	5.504000	0.66968	1.106000	0.41623	0.442000	0.29010	CGT	.	G|1.000;A|0.000		0.602	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
FOXI1	2299	hgsc.bcm.edu	37	5	169535204	169535204	+	Missense_Mutation	SNP	C	C	A	rs35678180	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:169535204C>A	ENST00000306268.6	+	2	787	c.726C>A	c.(724-726)agC>agA	p.S242R	FOXI1_ENST00000449804.2_Intron			Q12951	FOXI1_HUMAN	forkhead box I1	242					embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTGGACAGCCCCAAGACCA	0.592									Pendred syndrome																												p.S242R		Atlas-SNP	.											.	FOXI1	70	.	0			c.C726A						.						56.0	62.0	60.0					5																	169535204		2203	4300	6503	SO:0001583	missense	2299	exon2	Familial Cancer Database	Goiter-Deafness syndrome	GGACAGCCCCAAG	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.726C>A	chr5.hg19:g.169535204C>A	ENSP00000304286:p.Ser242Arg	39.0	0.0		157.0	8.0	NM_012188	Q14518|Q66SR7|Q8N6L8	Missense_Mutation	SNP	ENST00000306268.6	hg19	CCDS4372.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.949135	0.34377	.	.	ENSG00000168269	ENST00000306268	D	0.94280	-3.39	4.91	3.01	0.34805	.	0.246213	0.41605	D	0.000858	D	0.94997	0.8381	M	0.81682	2.555	0.80722	D	1	D	0.59357	0.985	P	0.58077	0.832	D	0.93602	0.6931	10	0.41790	T	0.15	.	10.1849	0.42991	0.0:0.826:0.0:0.174	.	242	Q12951	FOXI1_HUMAN	R	242	ENSP00000304286:S242R	ENSP00000304286:S242R	S	+	3	2	FOXI1	169467782	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	1.094000	0.30951	0.987000	0.38709	0.455000	0.32223	AGC	.	C|0.995;T|0.005		0.592	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252827.2	NM_144769, NM_012188	
LCP2	3937	hgsc.bcm.edu	37	5	169685155	169685155	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:169685155A>G	ENST00000046794.5	-	16	1601	c.986T>C	c.(985-987)tTg>tCg	p.L329S	LCP2_ENST00000521416.1_Missense_Mutation_p.L124S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	329					blood coagulation (GO:0007596)|cytokine secretion (GO:0050663)|Fc-epsilon receptor signaling pathway (GO:0038095)|immune response (GO:0006955)|innate immune response (GO:0045087)|mast cell activation (GO:0045576)|platelet activation (GO:0030168)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)				cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TGGCTGGGGCAAAGGTCTCTG	0.498																																					p.L329S		Atlas-SNP	.											.	LCP2	133	.	0			c.T986C						.						175.0	173.0	174.0					5																	169685155		1945	4144	6089	SO:0001583	missense	3937	exon16			TGGGGCAAAGGTC		CCDS47339.1	5q35.1	2013-02-14	2002-08-29		ENSG00000043462	ENSG00000043462		"""SH2 domain containing"""	6529	protein-coding gene	gene with protein product	"""76 kDa tyrosine phosphoprotein"", ""SH2 domain-containing leukocyte protein of 76kD"""	601603	"""lymphocyte cytosolic protein 2 (SH2 domain-containing leukocyte protein of 76kD)"""	SLP76		7706237	Standard	NM_005565		Approved	SLP-76	uc003man.1	Q13094	OTTHUMG00000163121	ENST00000046794.5:c.986T>C	chr5.hg19:g.169685155A>G	ENSP00000046794:p.Leu329Ser	54.0	0.0		156.0	13.0	NM_005565	A8KA25|Q53XV4	Missense_Mutation	SNP	ENST00000046794.5	hg19	CCDS47339.1	.	.	.	.	.	.	.	.	.	.	A	14.72	2.620395	0.46736	.	.	ENSG00000043462	ENST00000046794;ENST00000521416;ENST00000520344	T;T	0.48836	0.82;0.8	5.72	4.56	0.56223	.	0.301944	0.29073	N	0.013231	T	0.42494	0.1205	L	0.50333	1.59	0.36232	D	0.852709	P;P	0.44776	0.843;0.469	B;B	0.42653	0.394;0.209	T	0.50988	-0.8762	9	.	.	.	-5.6214	9.5973	0.39582	0.92:0.0:0.08:0.0	.	124;329	E7ESF6;Q13094	.;LCP2_HUMAN	S	329;124;96	ENSP00000046794:L329S;ENSP00000428871:L124S	.	L	-	2	0	LCP2	169617733	0.999000	0.42202	0.984000	0.44739	0.744000	0.42396	2.971000	0.49248	1.108000	0.41662	0.533000	0.62120	TTG	.	.		0.498	LCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371727.1	NM_005565	
DBN1	1627	hgsc.bcm.edu	37	5	176895871	176895871	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:176895871T>A	ENST00000309007.5	-	2	335	c.116A>T	c.(115-117)gAt>gTt	p.D39V	DBN1_ENST00000393565.1_Missense_Mutation_p.D39V|DBN1_ENST00000292385.5_Missense_Mutation_p.D41V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	39	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGAGGTCATCGGAGCCATC	0.607																																					p.D41V		Atlas-SNP	.											.	DBN1	122	.	0			c.A122T						.						183.0	159.0	167.0					5																	176895871		2203	4300	6503	SO:0001583	missense	1627	exon3			AGGTCATCGGAGC		CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.116A>T	chr5.hg19:g.176895871T>A	ENSP00000308532:p.Asp39Val	53.0	0.0		143.0	11.0	NM_080881	A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	ENST00000309007.5	hg19	CCDS4420.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.098996	0.76870	.	.	ENSG00000113758	ENST00000309007;ENST00000292385;ENST00000393565;ENST00000477391;ENST00000514833	T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16	3.76	3.76	0.43208	Actin-binding, cofilin/tropomyosin type (3);	0.137801	0.47093	D	0.000241	T	0.56790	0.2009	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.987	T	0.62220	-0.6900	10	0.87932	D	0	-21.9146	12.4455	0.55649	0.0:0.0:0.0:1.0	.	39;41	Q16643;Q16643-2	DREB_HUMAN;.	V	39;41;39;39;39	ENSP00000308532:D39V;ENSP00000292385:D41V;ENSP00000377195:D39V;ENSP00000422854:D39V;ENSP00000421465:D39V	ENSP00000292385:D41V	D	-	2	0	DBN1	176828477	1.000000	0.71417	0.994000	0.49952	0.827000	0.46813	5.052000	0.64263	1.941000	0.56285	0.450000	0.29827	GAT	.	.		0.607	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2	NM_080881	
PDLIM7	9260	hgsc.bcm.edu	37	5	176916422	176916422	+	Missense_Mutation	SNP	C	C	T	rs35410317		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:176916422C>T	ENST00000355841.2	-	9	907	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	PDLIM7_ENST00000359895.2_Missense_Mutation_p.V247M|PDLIM7_ENST00000356618.4_Missense_Mutation_p.R260H|PDLIM7_ENST00000393551.1_Missense_Mutation_p.R260H	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	281	LIM zinc-binding 1. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of osteoblast differentiation (GO:0045669)|receptor-mediated endocytosis (GO:0006898)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ruffle (GO:0001726)|stress fiber (GO:0001725)	zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGTGACACACGGGAGTCTTG	0.682																																					p.V281M		Atlas-SNP	.											.	PDLIM7	32	.	0			c.G841A						.						26.0	34.0	31.0					5																	176916422		2198	4294	6492	SO:0001583	missense	9260	exon9			GACACACGGGAGT	BC001093	CCDS4422.1, CCDS4423.1, CCDS4424.1	5q35.3	2008-02-05			ENSG00000196923	ENSG00000196923			22958	protein-coding gene	gene with protein product		605903				11874232	Standard	NM_005451		Approved	ENIGMA	uc003mhc.1	Q9NR12	OTTHUMG00000130853	ENST00000355841.2:c.841G>A	chr5.hg19:g.176916422C>T	ENSP00000348099:p.Val281Met	56.0	0.0		66.0	26.0	NM_005451	Q14250|Q5XG82|Q6NVZ5|Q96C91|Q9BXB8|Q9BXB9	Missense_Mutation	SNP	ENST00000355841.2	hg19	CCDS4422.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.40|11.40	1.626733|1.626733	0.28978|0.28978	.|.	.|.	ENSG00000196923|ENSG00000196923	ENST00000356618;ENST00000393551|ENST00000359895;ENST00000355841	T;T|T;T	0.16457|0.50548	2.34;2.34|0.86;0.74	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Zinc finger, LIM-type (3);	.|0.000000	.|0.52532	.|D	.|0.000064	T|T	0.41534|0.41534	0.1163|0.1163	L|L	0.45744|0.45744	1.44|1.44	0.26193|0.26193	N|N	0.979551|0.979551	B|D;D	0.10296|0.61697	0.003|0.99;0.985	B|P;P	0.06405|0.49421	0.002|0.61;0.522	T|T	0.39210|0.39210	-0.9625|-0.9625	9|10	0.38643|0.02654	T|T	0.18|1	.|.	9.5492|9.5492	0.39299|0.39299	0.0:0.7763:0.1452:0.0784|0.0:0.7763:0.1452:0.0784	.|.	260|281;247	Q9NR12-4|Q9NR12;Q9NR12-2	.|PDLI7_HUMAN;.	H|M	260|247;281	ENSP00000349030:R260H;ENSP00000377182:R260H|ENSP00000352964:V247M;ENSP00000348099:V281M	ENSP00000349030:R260H|ENSP00000348099:V281M	R|V	-|-	2|1	0|0	PDLIM7|PDLIM7	176849028|176849028	0.512000|0.512000	0.26186|0.26186	0.963000|0.963000	0.40424|0.40424	0.872000|0.872000	0.50106|0.50106	1.033000|1.033000	0.30191|0.30191	2.505000|2.505000	0.84491|0.84491	0.655000|0.655000	0.94253|0.94253	CGT|GTG	.	.		0.682	PDLIM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253423.1	NM_005451	
BTNL3	10917	hgsc.bcm.edu	37	5	180432823	180432823	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:180432823A>C	ENST00000342868.6	+	8	1536	c.1352A>C	c.(1351-1353)gAc>gCc	p.D451A	RNU6-1036P_ENST00000383959.1_RNA	NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	451	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GCGATGTATGACGAGGAAAAG	0.483																																					p.D451A		Atlas-SNP	.											.	BTNL3	55	.	0			c.A1352C						.						68.0	63.0	65.0					5																	180432823		1941	4146	6087	SO:0001583	missense	10917	exon8			TGTATGACGAGGA	AB020625	CCDS47358.1	5q35	2014-01-14			ENSG00000168903	ENSG00000168903		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	1143	protein-coding gene	gene with protein product	"""butyrophilin-like receptor"""	606192				10429365	Standard	NM_197975		Approved	BTNLR, BTN9.1	uc003mmr.3	Q6UXE8	OTTHUMG00000162091	ENST00000342868.6:c.1352A>C	chr5.hg19:g.180432823A>C	ENSP00000341787:p.Asp451Ala	67.0	0.0		245.0	14.0	NM_197975	Q496L7|Q9Y2C7	Missense_Mutation	SNP	ENST00000342868.6	hg19	CCDS47358.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.811989	0.32053	.	.	ENSG00000168903	ENST00000342868;ENST00000376852	T	0.60797	0.16	2.37	-0.711	0.11230	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.45276	0.1334	L	0.52126	1.63	0.09310	N	1	B;B	0.23650	0.089;0.0	B;B	0.25614	0.062;0.0	T	0.43861	-0.9365	9	0.66056	D	0.02	.	2.1176	0.03718	0.5797:0.0:0.1676:0.2527	.	417;451	C9JDC2;Q6UXE8	.;BTNL3_HUMAN	A	451;417	ENSP00000341787:D451A	ENSP00000341787:D451A	D	+	2	0	BTNL3	180365429	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.006000	0.12833	-0.467000	0.06932	0.164000	0.16699	GAC	.	.		0.483	BTNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367176.2	NM_197975	
JARID2	3720	hgsc.bcm.edu	37	6	15507624	15507624	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:15507624T>A	ENST00000341776.2	+	11	2952	c.2708T>A	c.(2707-2709)cTg>cAg	p.L903Q	JARID2_ENST00000397311.3_Missense_Mutation_p.L731Q|JARID2_ENST00000541660.1_Missense_Mutation_p.L865Q|JARID2_ENST00000474854.1_3'UTR	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	903	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|liver development (GO:0001889)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone methylation (GO:0031061)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K9 methylation (GO:0051574)|spleen development (GO:0048536)|stem cell differentiation (GO:0048863)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGGTCCATCCTGCGTCACCTC	0.587																																					p.L903Q		Atlas-SNP	.											.	JARID2	135	.	0			c.T2708A						.						154.0	127.0	136.0					6																	15507624		2203	4300	6503	SO:0001583	missense	3720	exon11			CCATCCTGCGTCA	U57592	CCDS4533.1, CCDS58996.1	6p24-p23	2008-02-05	2006-10-06	2004-01-30	ENSG00000008083	ENSG00000008083			6196	protein-coding gene	gene with protein product		601594	"""jumonji (mouse) homolog"", ""Jumonji, AT rich interactive domain 2"""	JMJ		8894700	Standard	NM_001267040		Approved		uc003nbj.4	Q92833	OTTHUMG00000014293	ENST00000341776.2:c.2708T>A	chr6.hg19:g.15507624T>A	ENSP00000341280:p.Leu903Gln	46.0	0.0		119.0	7.0	NM_004973	A8K9Z6|B7Z5S5|B7Z8L0|Q5U5L5|Q86X63	Missense_Mutation	SNP	ENST00000341776.2	hg19	CCDS4533.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945874	0.92593	.	.	ENSG00000008083	ENST00000341776;ENST00000397311;ENST00000541660	T;T;T	0.57752	0.38;0.38;0.38	5.36	5.36	0.76844	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.69433	0.3110	M	0.83012	2.62	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.76024	-0.3110	10	0.87932	D	0	-10.9955	15.3324	0.74223	0.0:0.0:0.0:1.0	.	865;903	F5H590;Q92833	.;JARD2_HUMAN	Q	903;731;865	ENSP00000341280:L903Q;ENSP00000380478:L731Q;ENSP00000444623:L865Q	ENSP00000341280:L903Q	L	+	2	0	JARID2	15615603	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.930000	0.87610	2.028000	0.59812	0.477000	0.44152	CTG	.	.		0.587	JARID2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039926.1	NM_004973	
PRL	5617	hgsc.bcm.edu	37	6	22294684	22294684	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:22294684A>T	ENST00000306482.1	-	2	676	c.158T>A	c.(157-159)cTg>cAg	p.L53Q	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	53					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|circadian rhythm (GO:0007623)|female pregnancy (GO:0007565)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|multicellular organismal response to stress (GO:0033555)|ovulation cycle (GO:0042698)|parturition (GO:0007567)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of JAK-STAT cascade (GO:0046427)|regulation of multicellular organism growth (GO:0040014)|regulation of ossification (GO:0030278)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|secretory granule (GO:0030141)	prolactin receptor binding (GO:0005148)			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					GTAGTGGGACAGGACGACGGC	0.587																																					p.L53Q		Atlas-SNP	.											.	PRL	41	.	0			c.T158A						.						103.0	93.0	96.0					6																	22294684		2203	4300	6503	SO:0001583	missense	5617	exon2			TGGGACAGGACGA	D00411	CCDS4548.1	6p22.3	2013-09-16			ENSG00000172179	ENSG00000172179			9445	protein-coding gene	gene with protein product		176760					Standard	NM_000948		Approved		uc003ndq.3	P01236	OTTHUMG00000016111	ENST00000306482.1:c.158T>A	chr6.hg19:g.22294684A>T	ENSP00000302150:p.Leu53Gln	79.0	0.0		360.0	16.0	NM_000948	Q15199|Q92996	Missense_Mutation	SNP	ENST00000306482.1	hg19	CCDS4548.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	22.1|22.1	4.242959|4.242959	0.79912|0.79912	.|.	.|.	ENSG00000172179|ENSG00000172179	ENST00000438606|ENST00000306482	.|D	.|0.89939	.|-2.59	6.04|6.04	4.86|4.86	0.63082|0.63082	.|Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	.|0.256840	.|0.40222	.|N	.|0.001143	.|D	.|0.92652	.|0.7665	M|M	0.82323|0.82323	2.585|2.585	0.54753|0.54753	D|D	0.999985|0.999985	.|B;D	.|0.89917	.|0.222;1.0	.|P;D	.|0.81914	.|0.814;0.995	.|D	.|0.92698	.|0.6172	.|10	.|0.49607	.|T	.|0.09	.|-0.0438	12.5677|12.5677	0.56318|0.56318	0.8753:0.0:0.0:0.1247|0.8753:0.0:0.0:0.1247	.|.	.|53;54	.|P01236;Q5I0G2	.|PRL_HUMAN;.	.|Q	-1|53	.|ENSP00000302150:L53Q	.|ENSP00000302150:L53Q	.|L	-|-	.|2	.|0	PRL|PRL	22402663|22402663	0.999000|0.999000	0.42202|0.42202	0.943000|0.943000	0.38184|0.38184	0.954000|0.954000	0.61252|0.61252	4.588000|4.588000	0.60999|0.60999	1.068000|1.068000	0.40764|0.40764	0.460000|0.460000	0.39030|0.39030	.|CTG	.	.		0.587	PRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043327.1	NM_000948	
HIST1H1E	3008	hgsc.bcm.edu	37	6	26156943	26156943	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:26156943A>T	ENST00000304218.3	+	1	385	c.325A>T	c.(325-327)Aag>Tag	p.K109*	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	109	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CAAACTCAACAAGAAGGCGGC	0.617																																					p.K109X		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.A325T						.						33.0	40.0	38.0					6																	26156943		2203	4300	6503	SO:0001587	stop_gained	3008	exon1			CTCAACAAGAAGG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.325A>T	chr6.hg19:g.26156943A>T	ENSP00000307705:p.Lys109*	55.0	0.0		217.0	19.0	NM_005321	Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	hg19	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	35	5.588280	0.96590	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.35	5.35	0.76521	.	0.105304	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.2553	14.7974	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	109	.	ENSP00000307705:K109X	K	+	1	0	HIST1H1E	26264922	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	7.448000	0.80631	2.146000	0.66826	0.459000	0.35465	AAG	.	.		0.617	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
HIST1H1E	3008	hgsc.bcm.edu	37	6	26156946	26156946	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:26156946A>T	ENST00000304218.3	+	1	388	c.328A>T	c.(328-330)Aag>Tag	p.K110*	HIST1H2BD_ENST00000289316.2_5'Flank|HIST1H2BD_ENST00000377777.4_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	110					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						ACTCAACAAGAAGGCGGCCTC	0.627																																					p.K110X		Atlas-SNP	.											.	HIST1H1E	69	.	0			c.A328T						.						33.0	39.0	37.0					6																	26156946		2203	4300	6503	SO:0001587	stop_gained	3008	exon1			AACAAGAAGGCGG	M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.328A>T	chr6.hg19:g.26156946A>T	ENSP00000307705:p.Lys110*	55.0	0.0		219.0	18.0	NM_005321	Q4VB25	Nonsense_Mutation	SNP	ENST00000304218.3	hg19	CCDS4586.1	.	.	.	.	.	.	.	.	.	.	.	35	5.574334	0.96553	.	.	ENSG00000168298	ENST00000304218	.	.	.	5.35	5.35	0.76521	.	0.152047	0.41194	D	0.000922	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.1063	14.7974	0.69886	1.0:0.0:0.0:0.0	.	.	.	.	X	110	.	ENSP00000307705:K110X	K	+	1	0	HIST1H1E	26264925	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	6.134000	0.71689	2.146000	0.66826	0.459000	0.35465	AAG	.	.		0.627	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040084.1	NM_005321	
PGBD1	84547	hgsc.bcm.edu	37	6	28268674	28268674	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:28268674C>T	ENST00000405948.2	+	7	1463	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	PGBD1_ENST00000259883.3_Missense_Mutation_p.A348V	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	348						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A348D(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAGACAAAGCTCGAGTGAGT	0.483																																					p.A348V		Atlas-SNP	.											PGBD1,NS,carcinoma,0,1	PGBD1	106	.	1	Substitution - Missense(1)	endometrium(1)	c.C1043T						.						89.0	92.0	91.0					6																	28268674		2203	4300	6503	SO:0001583	missense	84547	exon7			ACAAAGCTCGAGT	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1043C>T	chr6.hg19:g.28268674C>T	ENSP00000385213:p.Ala348Val	62.0	0.0		157.0	12.0	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	hg19	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	C	12.36	1.915317	0.33815	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01388	4.95;4.95	4.54	3.66	0.41972	.	0.984994	0.08254	N	0.974212	T	0.00384	0.0012	N	0.14661	0.345	0.24096	N	0.995897	B	0.34214	0.442	B	0.26969	0.075	T	0.40553	-0.9557	10	0.25751	T	0.34	-10.3144	9.0861	0.36581	0.0:0.8974:0.0:0.1026	.	348	Q96JS3	PGBD1_HUMAN	V	348	ENSP00000385213:A348V;ENSP00000259883:A348V	ENSP00000259883:A348V	A	+	2	0	PGBD1	28376653	0.985000	0.35326	1.000000	0.80357	0.997000	0.91878	0.968000	0.29357	1.238000	0.43771	0.655000	0.94253	GCT	.	.		0.483	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
PGBD1	84547	hgsc.bcm.edu	37	6	28268801	28268801	+	Missense_Mutation	SNP	G	G	C	rs143874020		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:28268801G>C	ENST00000405948.2	+	7	1590	c.1170G>C	c.(1168-1170)tgG>tgC	p.W390C	PGBD1_ENST00000259883.3_Missense_Mutation_p.W390C	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	390						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAGAGTTGGACCAAAAGAG	0.413																																					p.W390C		Atlas-SNP	.											.	PGBD1	106	.	0			c.G1170C						.	G	CYS/TRP,CYS/TRP	1,4405	2.1+/-5.4	0,1,2202	65.0	69.0	68.0		1170,1170	4.5	1.0	6	dbSNP_134	68	0,8600		0,0,4300	no	missense,missense	PGBD1	NM_001184743.1,NM_032507.3	215,215	0,1,6502	CC,CG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	390/810,390/810	28268801	1,13005	2203	4300	6503	SO:0001583	missense	84547	exon7			GAGTTGGACCAAA	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1170G>C	chr6.hg19:g.28268801G>C	ENSP00000385213:p.Trp390Cys	34.0	0.0		129.0	10.0	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	hg19	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612478	0.46631	2.27E-4	0.0	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.02369	4.32;4.32	4.54	4.54	0.55810	.	0.195133	0.25836	N	0.027990	T	0.04724	0.0128	L	0.32530	0.975	0.58432	D	0.999993	D	0.89917	1.0	D	0.75020	0.985	T	0.42799	-0.9430	10	0.87932	D	0	-16.3181	12.9975	0.58654	0.0:0.0:1.0:0.0	.	390	Q96JS3	PGBD1_HUMAN	C	390	ENSP00000385213:W390C;ENSP00000259883:W390C	ENSP00000259883:W390C	W	+	3	0	PGBD1	28376780	0.998000	0.40836	0.976000	0.42696	0.862000	0.49288	4.406000	0.59748	2.521000	0.84997	0.655000	0.94253	TGG	.	G|1.000;C|0.000		0.413	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
PGBD1	84547	hgsc.bcm.edu	37	6	28269056	28269056	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:28269056G>T	ENST00000405948.2	+	7	1845	c.1425G>T	c.(1423-1425)agG>agT	p.R475S	PGBD1_ENST00000259883.3_Missense_Mutation_p.R475S	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	475						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCCTAGAAGGGAAATGTATT	0.418																																					p.R475S		Atlas-SNP	.											.	PGBD1	106	.	0			c.G1425T						.						158.0	156.0	156.0					6																	28269056		2203	4300	6503	SO:0001583	missense	84547	exon7			TAGAAGGGAAATG	D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.1425G>T	chr6.hg19:g.28269056G>T	ENSP00000385213:p.Arg475Ser	107.0	0.0		338.0	17.0	NM_001184743	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	ENST00000405948.2	hg19	CCDS4648.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.432087	0.25813	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.17854	2.25;2.25	4.66	0.887	0.19200	.	0.140189	0.33253	N	0.005116	T	0.05914	0.0154	L	0.60455	1.87	0.23809	N	0.996784	B	0.22146	0.065	B	0.32211	0.142	T	0.39901	-0.9591	10	0.22109	T	0.4	-6.7987	6.3282	0.21255	0.414:0.0:0.586:0.0	.	475	Q96JS3	PGBD1_HUMAN	S	475	ENSP00000385213:R475S;ENSP00000259883:R475S	ENSP00000259883:R475S	R	+	3	2	PGBD1	28377035	0.860000	0.29831	0.970000	0.41538	0.987000	0.75469	0.262000	0.18460	0.292000	0.22492	0.655000	0.94253	AGG	.	.		0.418	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040188.2		
OR11A1	26531	hgsc.bcm.edu	37	6	29395051	29395051	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:29395051C>T	ENST00000377149.1	-	5	840	c.368G>A	c.(367-369)cGc>cAc	p.R123H	OR11A1_ENST00000377147.2_Missense_Mutation_p.R123H|OR11A1_ENST00000377148.1_Missense_Mutation_p.R123H|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						TGCCAGGTAGCGGTCATATGC	0.537																																					p.R123H		Atlas-SNP	.											.	OR11A1	30	.	0			c.G368A						.						64.0	70.0	68.0					6																	29395051		1510	2709	4219	SO:0001583	missense	26531	exon1			AGGTAGCGGTCAT		CCDS34363.1	6p22.2-p21.31	2014-02-19	2002-02-28		ENSG00000204694	ENSG00000204694		"""GPCR / Class A : Olfactory receptors"""	8176	protein-coding gene	gene with protein product			"""olfactory receptor, family 11, subfamily A, member 2"""	OR11A2			Standard	XM_005249001		Approved	hs6M1-18	uc003nmg.3	Q9GZK7	OTTHUMG00000031225	ENST00000377149.1:c.368G>A	chr6.hg19:g.29395051C>T	ENSP00000366354:p.Arg123His	58.0	0.0		231.0	13.0	NM_013937	A2BF33|A6NFQ3|B0S7T2|Q5ST16|Q9GZK8	Missense_Mutation	SNP	ENST00000377149.1	hg19	CCDS34363.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.638066	0.47153	.	.	ENSG00000204694	ENST00000377148;ENST00000377149;ENST00000377147	T;T;T	0.77489	-1.1;-1.1;-1.1	3.78	2.9	0.33743	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38436	N	0.001686	D	0.84969	0.5590	M	0.88906	2.99	0.35989	D	0.836566	D	0.89917	1.0	D	0.87578	0.998	D	0.86849	0.2022	10	0.87932	D	0	-20.52	10.1326	0.42687	0.0:0.8986:0.0:0.1014	.	123	Q9GZK7	O11A1_HUMAN	H	123	ENSP00000366353:R123H;ENSP00000366354:R123H;ENSP00000366352:R123H	ENSP00000366352:R123H	R	-	2	0	OR11A1	29503030	0.966000	0.33281	0.949000	0.38748	0.086000	0.17979	5.138000	0.64795	0.785000	0.33685	0.405000	0.27470	CGC	.	.		0.537	OR11A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000193778.1		
PPT2	9374	hgsc.bcm.edu	37	6	32123651	32123651	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:32123651C>T	ENST00000324816.6	+	5	1005	c.437C>T	c.(436-438)aCg>aTg	p.T146M	PPT2_ENST00000375137.2_Missense_Mutation_p.T146M|PPT2_ENST00000395523.1_Missense_Mutation_p.T146M|PRRT1_ENST00000375150.2_5'Flank|PPT2_ENST00000437001.2_Missense_Mutation_p.T23M|PPT2_ENST00000445576.2_Missense_Mutation_p.T146M|PPT2-EGFL8_ENST00000422437.1_Missense_Mutation_p.T146M|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000493548.1_3'UTR|PPT2_ENST00000375143.2_Missense_Mutation_p.T146M|PPT2_ENST00000361568.2_Missense_Mutation_p.T152M			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	146					cellular protein modification process (GO:0006464)|macromolecule depalmitoylation (GO:0098734)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	palmitoyl hydrolase activity (GO:0098599)|palmitoyl-(protein) hydrolase activity (GO:0008474)|thiolester hydrolase activity (GO:0016790)			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TTGCCAGACACGGACTACTTG	0.527																																					p.T152M		Atlas-SNP	.											.	PPT2	19	.	0			c.C455T						.						159.0	130.0	140.0					6																	32123651		1511	2709	4220	SO:0001583	missense	9374	exon5			CAGACACGGACTA	AF020543	CCDS4740.1, CCDS4742.1	6p21.3	2012-07-02			ENSG00000221988	ENSG00000221988	3.1.2.22		9326	protein-coding gene	gene with protein product		603298				9341199, 10051407	Standard	NM_138717		Approved		uc003nzw.3	Q9UMR5	OTTHUMG00000031257	ENST00000324816.6:c.437C>T	chr6.hg19:g.32123651C>T	ENSP00000320528:p.Thr146Met	109.0	0.0		433.0	19.0	NM_138717	A2ABC9|A2ABD1|A2ARM7|A2BFH7|A2BFH9|A2BFI2|A8K9L4|B0S868|G8JLE1|O14799|Q0P6K0|Q5JP13|Q5JP14|Q5JQF0|Q5SSX4|Q5SSX5|Q5SSX6|Q5STJ4|Q5STJ5|Q5STJ6|Q6FI80|Q99945	Missense_Mutation	SNP	ENST00000324816.6	hg19	CCDS4742.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780951	0.90282	.	.	ENSG00000221988	ENST00000414204;ENST00000361568;ENST00000395523;ENST00000445576;ENST00000324816;ENST00000437001;ENST00000375137;ENST00000375143;ENST00000424499;ENST00000436118	T;D;D;D;D;D;D;D;D	0.96232	-0.25;-3.95;-3.95;-3.95;-3.95;-3.38;-3.95;-3.95;-3.38	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	D	0.97666	0.9235	M	0.74258	2.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.985;0.992;0.992	D	0.98139	1.0435	10	0.62326	D	0.03	-4.8314	16.689	0.85316	0.0:1.0:0.0:0.0	.	146;146;152	Q9UMR5-2;Q9UMR5;B0S872	.;PPT2_HUMAN;.	M	146;152;146;146;146;23;146;146;68;146	ENSP00000398847:T146M;ENSP00000354608:T152M;ENSP00000378894:T146M;ENSP00000412381:T146M;ENSP00000320528:T146M;ENSP00000415350:T23M;ENSP00000364279:T146M;ENSP00000364285:T146M;ENSP00000409877:T68M	ENSP00000320528:T146M	T	+	2	0	PPT2	32231629	1.000000	0.71417	0.995000	0.50966	0.949000	0.60115	6.997000	0.76270	2.527000	0.85204	0.557000	0.71058	ACG	.	.		0.527	PPT2-207	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076552.4	NM_138717	
ZBTB9	221504	hgsc.bcm.edu	37	6	33423961	33423961	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:33423961G>A	ENST00000395064.2	+	2	1352	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	362	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						AGGACCTGGGGGAGCAGGCCA	0.612																																					p.G362R		Atlas-SNP	.											.	ZBTB9	23	.	0			c.G1084A						.						22.0	22.0	22.0					6																	33423961		2203	4300	6503	SO:0001583	missense	221504	exon2			CCTGGGGGAGCAG	AK122644	CCDS4780.1	6p21.31	2013-01-09			ENSG00000213588	ENSG00000213588		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	28323	protein-coding gene	gene with protein product						12477932	Standard	NM_152735		Approved	MGC23166, ZNF919	uc003oeq.3	Q96C00	OTTHUMG00000140180	ENST00000395064.2:c.1084G>A	chr6.hg19:g.33423961G>A	ENSP00000378503:p.Gly362Arg	26.0	0.0		81.0	25.0	NM_152735	A2AB19	Missense_Mutation	SNP	ENST00000395064.2	hg19	CCDS4780.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168838	0.57584	.	.	ENSG00000213588	ENST00000395064	T	0.08193	3.12	4.99	4.99	0.66335	.	0.507304	0.15055	U	0.283080	T	0.02649	0.0080	L	0.32530	0.975	0.30017	N	0.814695	B	0.31435	0.323	B	0.31101	0.124	T	0.39683	-0.9602	10	0.14252	T	0.57	.	13.6367	0.62227	0.0:0.0:1.0:0.0	.	362	Q96C00	ZBTB9_HUMAN	R	362	ENSP00000378503:G362R	ENSP00000378503:G362R	G	+	1	0	ZBTB9	33531939	1.000000	0.71417	0.915000	0.36163	0.944000	0.59088	4.348000	0.59379	2.594000	0.87642	0.655000	0.94253	GGA	.	.		0.612	ZBTB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276533.1	NM_152735	
C6orf106	64771	hgsc.bcm.edu	37	6	34574641	34574641	+	Silent	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:34574641A>C	ENST00000374023.3	-	4	795	c.552T>G	c.(550-552)ctT>ctG	p.L184L	C6orf106_ENST00000374021.1_Silent_p.L110L|C6orf106_ENST00000374026.3_Silent_p.L118L	NM_024294.2	NP_077270.1	Q9H6K1	CF106_HUMAN	chromosome 6 open reading frame 106	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10						TTACTCCTAAAAGTCCACCCA	0.468																																					p.L184L		Atlas-SNP	.											.	C6orf106	29	.	0			c.T552G						.						73.0	65.0	68.0					6																	34574641		2203	4300	6503	SO:0001819	synonymous_variant	64771	exon4			TCCTAAAAGTCCA	AF052106	CCDS4795.1, CCDS4796.1	6p21.31	2012-01-27			ENSG00000196821	ENSG00000196821			21215	protein-coding gene	gene with protein product		612217					Standard	XM_005249298		Approved	FLJ22195, dJ391O22.4	uc003ojr.2	Q9H6K1	OTTHUMG00000014553	ENST00000374023.3:c.552T>G	chr6.hg19:g.34574641A>C		26.0	0.0		50.0	15.0	NM_024294	B2R8K7|Q5VV77|Q96MG5|Q9BUR9	Silent	SNP	ENST00000374023.3	hg19	CCDS4796.1																																																																																			.	.		0.468	C6orf106-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040251.1	NM_022758	
UHRF1BP1	54887	hgsc.bcm.edu	37	6	34802105	34802105	+	Silent	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:34802105C>A	ENST00000192788.5	+	5	621	c.450C>A	c.(448-450)ctC>ctA	p.L150L	UHRF1BP1_ENST00000452449.2_Silent_p.L150L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	150							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGGCAGCTCCAGGGCTATA	0.517																																					p.L150L		Atlas-SNP	.											.	UHRF1BP1	102	.	0			c.C450A						.						66.0	64.0	65.0					6																	34802105		1983	4154	6137	SO:0001819	synonymous_variant	54887	exon5			GCAGCTCCAGGGC	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.450C>A	chr6.hg19:g.34802105C>A		82.0	0.0		278.0	163.0	NM_017754	Q9NXE0	Silent	SNP	ENST00000192788.5	hg19	CCDS43455.1																																																																																			.	.		0.517	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754	
RPL10A	4736	hgsc.bcm.edu	37	6	35436589	35436589	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:35436589C>G	ENST00000322203.6	+	2	46	c.19C>G	c.(19-21)Cgc>Ggc	p.R7G	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	7					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						CAAAGTCTCTCGCGACACCCT	0.692																																					p.R7G		Atlas-SNP	.											.	RPL10A	13	.	0			c.C19G						.						11.0	12.0	11.0					6																	35436589		2196	4293	6489	SO:0001583	missense	4736	exon2			GTCTCTCGCGACA	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.19C>G	chr6.hg19:g.35436589C>G	ENSP00000363018:p.Arg7Gly	24.0	0.0		52.0	19.0	NM_007104	B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	hg19	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	15.73	2.919415	0.52653	.	.	ENSG00000198755	ENST00000322203	T	0.44482	0.92	5.24	5.24	0.73138	Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.32763	0.0840	M	0.72353	2.195	0.80722	D	1	B	0.06786	0.001	B	0.16289	0.015	T	0.16928	-1.0386	10	0.40728	T	0.16	.	17.4093	0.87481	0.0:1.0:0.0:0.0	.	7	P62906	RL10A_HUMAN	G	7	ENSP00000363018:R7G	ENSP00000363018:R7G	R	+	1	0	RPL10A	35544567	1.000000	0.71417	0.998000	0.56505	0.889000	0.51656	4.559000	0.60796	2.436000	0.82500	0.491000	0.48974	CGC	.	.		0.692	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104	
KCTD20	222658	hgsc.bcm.edu	37	6	36447368	36447368	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:36447368G>T	ENST00000373731.2	+	5	929	c.538G>T	c.(538-540)Gat>Tat	p.D180Y	KCTD20_ENST00000536244.1_Splice_Site_p.D35Y|KCTD20_ENST00000449081.2_Intron|KCTD20_ENST00000544295.1_Intron|KCTD20_ENST00000474988.1_Intron	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	180	BTB.				protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						CTATTTACAGGATTATTACAA	0.353																																					p.D180Y		Atlas-SNP	.											.	KCTD20	37	.	0			c.G538T						.						109.0	106.0	107.0					6																	36447368		2203	4300	6503	SO:0001630	splice_region_variant	222658	exon5			TTACAGGATTATT	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.538-1G>T	chr6.hg19:g.36447368G>T		37.0	0.0		84.0	6.0	NM_173562	B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Missense_Mutation	SNP	ENST00000373731.2	hg19	CCDS4821.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170316	0.78452	.	.	ENSG00000112078	ENST00000373731;ENST00000536244	D;D	0.82433	-1.61;-1.61	5.01	5.01	0.66863	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.90338	0.6977	M	0.80746	2.51	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89978	0.4098	9	.	.	.	-26.3868	18.5249	0.90968	0.0:0.0:1.0:0.0	.	180	Q7Z5Y7	KCD20_HUMAN	Y	180;35	ENSP00000362836:D180Y;ENSP00000439118:D35Y	.	D	+	1	0	KCTD20	36555346	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	9.657000	0.98554	2.602000	0.87976	0.591000	0.81541	GAT	.	.		0.353	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562	Missense_Mutation
CDKN1A	1026	hgsc.bcm.edu	37	6	36651880	36651881	+	Start_Codon_SNP	DNP	TG	TG	GT			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T|G	T|G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:36651880_36651881TG>GT	ENST00000405375.1	+	2	237_238	c.2_3TG>GT	c.(1-3)aTG>aGT	p.M1S	CDKN1A_ENST00000478800.1_3'UTR|CDKN1A_ENST00000448526.2_Missense_Mutation_p.M35S|CDKN1A_ENST00000373711.2_Start_Codon_SNP_p.M1S|CDKN1A_ENST00000244741.5_Start_Codon_SNP_p.M1S	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	1					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to extracellular stimulus (GO:0031668)|cellular response to ionizing radiation (GO:0071479)|cellular senescence (GO:0090398)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of gene expression (GO:0010629)|negative regulation of phosphorylation (GO:0042326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ regeneration (GO:0031100)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of DNA biosynthetic process (GO:2000278)|regulation of protein import into nucleus, translocation (GO:0033158)|response to arsenic-containing substance (GO:0046685)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to organonitrogen compound (GO:0010243)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|stress-induced premature senescence (GO:0090400)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCNA-p21 complex (GO:0070557)	cyclin-dependent protein kinase activating kinase activity (GO:0019912)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCAGGCGCCATGTCAGAACCGG	0.629																																					p.M1R|p.M1I		Atlas-SNP	.											.	CDKN1A	27	.	0			c.T2G|c.G3T						.																																			SO:0001582	initiator_codon_variant	1026	exon2			GCGCCATGTCAGA|CGCCATGTCAGAA	U03106	CCDS4824.1	6p21.1	2009-01-21			ENSG00000124762	ENSG00000124762			1784	protein-coding gene	gene with protein product		116899		CDKN1			Standard	NM_000389		Approved	P21, CIP1, WAF1, SDI1, CAP20, p21CIP1, p21Cip1/Waf1	uc021yzb.1	P38936	OTTHUMG00000014603	Exception_encountered	chr6.hg19:g.36651880_36651881delinsGT	ENSP00000384849:p.Met1Ser	30.0	0.0		140.0|139.0	29.0|28.0	NM_001220778	Q14010|Q6FI05|Q9BUT4	Missense_Mutation	SNP	ENST00000405375.1	hg19	CCDS4824.1																																																																																			.	.		0.629	CDKN1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040354.1	NM_078467	Missense_Mutation
PGC	5225	hgsc.bcm.edu	37	6	41707607	41707607	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:41707607A>G	ENST00000373025.3	-	7	907	c.845T>C	c.(844-846)cTc>cCc	p.L282P		NM_002630.3	NP_002621.1	P20142	PEPC_HUMAN	progastricsin (pepsinogen C)	282					digestion (GO:0007586)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1)	16	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GGGCACAGTGAGCAGAGAGGT	0.617																																					p.L282P		Atlas-SNP	.											.	PGC	56	.	0			c.T845C						.						95.0	89.0	91.0					6																	41707607		2203	4300	6503	SO:0001583	missense	5225	exon7			ACAGTGAGCAGAG		CCDS4859.1, CCDS55000.1	6p21.1	2012-10-02			ENSG00000096088	ENSG00000096088	3.4.23.3		8890	protein-coding gene	gene with protein product		169740					Standard	NM_002630		Approved		uc003ora.2	P20142	OTTHUMG00000014683	ENST00000373025.3:c.845T>C	chr6.hg19:g.41707607A>G	ENSP00000362116:p.Leu282Pro	50.0	0.0		180.0	8.0	NM_002630	B4DVZ3|Q5T3D7|Q5T3D8	Missense_Mutation	SNP	ENST00000373025.3	hg19	CCDS4859.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469891	0.63625	.	.	ENSG00000096088	ENST00000373025	T	0.62232	0.04	5.14	5.14	0.70334	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.000000	0.64402	D	0.000001	D	0.86176	0.5870	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91880	0.5515	10	0.87932	D	0	.	14.8424	0.70235	1.0:0.0:0.0:0.0	.	282	P20142	PEPC_HUMAN	P	282	ENSP00000362116:L282P	ENSP00000362116:L282P	L	-	2	0	PGC	41815585	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	8.218000	0.89768	2.169000	0.68431	0.454000	0.30748	CTC	.	.		0.617	PGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040521.2		
USP49	25862	hgsc.bcm.edu	37	6	41773689	41773689	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:41773689T>G	ENST00000394253.3	-	3	1362	c.1033A>C	c.(1033-1035)Atc>Ctc	p.I345L	USP49_ENST00000373006.1_Missense_Mutation_p.I345L|USP49_ENST00000297229.2_Missense_Mutation_p.I345L|USP49_ENST00000373010.1_Missense_Mutation_p.I345L|USP49_ENST00000373009.3_Missense_Mutation_p.I345L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	345	USP.				histone H2B conserved C-terminal lysine deubiquitination (GO:0035616)|mRNA splicing, via spliceosome (GO:0000398)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGTTCTGGATGAGCTCCAGA	0.607																																					p.I345L		Atlas-SNP	.											.	USP49	58	.	0			c.A1033C						.						44.0	46.0	45.0					6																	41773689		2203	4300	6503	SO:0001583	missense	25862	exon4			TCTGGATGAGCTC	AJ586139	CCDS4861.1, CCDS69111.1	6p12.1	2008-02-05	2005-08-08		ENSG00000164663	ENSG00000164663		"""Ubiquitin-specific peptidases"""	20078	protein-coding gene	gene with protein product			"""ubiquitin specific protease 49"""			14715245	Standard	NM_018561		Approved	MGC20741	uc003ori.3	Q70CQ1	OTTHUMG00000014688	ENST00000394253.3:c.1033A>C	chr6.hg19:g.41773689T>G	ENSP00000377797:p.Ile345Leu	14.0	0.0		101.0	16.0	NM_018561	Q5T3D9|Q5T3E0|Q96CK4	Missense_Mutation	SNP	ENST00000394253.3	hg19		.	.	.	.	.	.	.	.	.	.	T	16.64	3.180024	0.57800	.	.	ENSG00000164663	ENST00000394253;ENST00000373010;ENST00000373009;ENST00000373006;ENST00000297229	T;T;T;T;T	0.73575	3.76;3.27;3.76;-0.76;-0.76	5.1	5.1	0.69264	.	0.128325	0.64402	D	0.000007	T	0.50240	0.1604	N	0.26130	0.795	0.35841	D	0.826048	P	0.36330	0.548	B	0.41466	0.358	T	0.53387	-0.8446	10	0.11485	T	0.65	-17.1117	14.8356	0.70180	0.0:0.0:0.0:1.0	.	345	Q70CQ1-2	.	L	345	ENSP00000377797:I345L;ENSP00000362101:I345L;ENSP00000362100:I345L;ENSP00000362097:I345L;ENSP00000297229:I345L	ENSP00000297229:I345L	I	-	1	0	USP49	41881667	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	4.898000	0.63238	2.039000	0.60335	0.533000	0.62120	ATC	.	.		0.607	USP49-007	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000316513.3	NM_018561	
PPP2R5D	5528	hgsc.bcm.edu	37	6	42978962	42978962	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:42978962A>C	ENST00000485511.1	+	16	1926	c.1747A>C	c.(1747-1749)Aag>Cag	p.K583Q	KLHDC3_ENST00000326974.4_5'Flank|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.K477Q|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.K575Q|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.K551Q	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	583					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|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)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTACACCATCAAGGCACTGGA	0.577																																					p.K583Q	Melanoma(63;587 1613 29742 31770)	Atlas-SNP	.											.	PPP2R5D	47	.	0			c.A1747C						.						98.0	95.0	96.0					6																	42978962		2203	4300	6503	SO:0001583	missense	5528	exon16			ACCATCAAGGCAC	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1747A>C	chr6.hg19:g.42978962A>C	ENSP00000417963:p.Lys583Gln	62.0	0.0		246.0	29.0	NM_006245	A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	hg19	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.53|14.53	2.563151|2.563151	0.45694|0.45694	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	T;T;T;T|.	0.51071|.	0.74;0.73;0.72;0.76|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.68054|0.68054	0.2959|0.2959	M|M	0.74881|0.74881	2.28|2.28	0.50467|0.50467	D|D	0.99987|0.99987	B;B;B;B|.	0.23249|.	0.016;0.082;0.049;0.082|.	B;B;B;B|.	0.28139|.	0.041;0.059;0.027;0.086|.	T|T	0.69796|0.69796	-0.5048|-0.5048	10|5	0.46703|.	T|.	0.11|.	-30.3757|-30.3757	15.2607|15.2607	0.73621|0.73621	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	477;565;583;551|.	Q14738-3;F5GYS1;Q14738;Q14738-2|.	.;.;2A5D_HUMAN;.|.	Q|P	583;551;575;565;477|484	ENSP00000417963:K583Q;ENSP00000377669:K551Q;ENSP00000420550:K575Q;ENSP00000420674:K477Q|.	ENSP00000377669:K551Q|.	K|Q	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43086940|43086940	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.310000|7.310000	0.78947|0.78947	2.089000|2.089000	0.63090|0.63090	0.533000|0.533000	0.62120|0.62120	AAG|CAA	.	.		0.577	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245	
CRIP3	401262	hgsc.bcm.edu	37	6	43274043	43274043	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:43274043C>T	ENST00000274990.4	-	6	413	c.409G>A	c.(409-411)Gtg>Atg	p.V137M	CRIP3_ENST00000372569.3_Missense_Mutation_p.V137M|ZNF318_ENST00000607252.1_5'Flank			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	137	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			AATGACATCACCTTCTCAGCT	0.572																																					p.V137M		Atlas-SNP	.											.	CRIP3	30	.	0			c.G409A						.						99.0	92.0	95.0					6																	43274043		2203	4300	6503	SO:0001583	missense	401262	exon6			ACATCACCTTCTC	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.409G>A	chr6.hg19:g.43274043C>T	ENSP00000274990:p.Val137Met	41.0	0.0		173.0	24.0	NM_206922	A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.9|22.9	4.343643|4.343643	0.82022|0.82022	.|.	.|.	ENSG00000146215|ENSG00000146215	ENST00000416431|ENST00000372569;ENST00000451294;ENST00000274990	.|D;D;D	.|0.89050	.|-2.46;-2.46;-2.46	4.94|4.94	4.94|4.94	0.65067|0.65067	.|Zinc finger, LIM-type (5);	.|0.000000	.|0.64402	.|D	.|0.000009	D|D	0.91942|0.91942	0.7448|0.7448	M|M	0.68952|0.68952	2.095|2.095	0.54753|0.54753	D|D	0.999985|0.999985	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;0.999	D|D	0.90761|0.90761	0.4665|0.4665	5|10	.|0.34782	.|T	.|0.22	-0.8605|-0.8605	15.6476|15.6476	0.77068|0.77068	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|137;137	.|Q6Q6R5;Q6Q6R5-3	.|CRIP3_HUMAN;.	D|M	60|137;9;137	.|ENSP00000361650:V137M;ENSP00000397775:V9M;ENSP00000274990:V137M	.|ENSP00000274990:V137M	G|V	-|-	2|1	0|0	CRIP3|CRIP3	43382021|43382021	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	6.947000|6.947000	0.75959|0.75959	2.283000|2.283000	0.76528|0.76528	0.561000|0.561000	0.74099|0.74099	GGT|GTG	.	.		0.572	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1		
CRIP3	401262	hgsc.bcm.edu	37	6	43274045	43274046	+	Missense_Mutation	DNP	TT	TT	AC			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:43274045_43274046TT>AC	ENST00000274990.4	-	6	410_411	c.406_407AA>GT	c.(406-408)AAg>GTg	p.K136V	CRIP3_ENST00000372569.3_Missense_Mutation_p.K136V|ZNF318_ENST00000607252.1_5'Flank			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	136	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGACATCACCTTCTCAGCTGGT	0.569																																					p.K136M|p.K136E		Atlas-SNP	.											.	CRIP3	30	.	0			c.A407T|c.A406G						.																																			SO:0001583	missense	401262	exon6			ATCACCTTCTCAG|TCACCTTCTCAGC	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.406_407delinsAC	chr6.hg19:g.43274045_43274046delinsAC	ENSP00000274990:p.Lys136Val	41.0|40.0	0.0		175.0|170.0	26.0|22.0	NM_206922	A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Missense_Mutation	SNP	ENST00000274990.4	hg19																																																																																				.	.		0.569	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1		
CLIC5	53405	hgsc.bcm.edu	37	6	45922898	45922898	+	Silent	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:45922898G>A	ENST00000185206.6	-	2	776	c.624C>T	c.(622-624)ttC>ttT	p.F208F	CLIC5_ENST00000544153.1_Silent_p.F49F|CLIC5_ENST00000339561.6_Silent_p.F49F	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	208					auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGTGACATTGAACACGACTC	0.473																																					p.F208F		Atlas-SNP	.											.	CLIC5	48	.	0			c.C624T						.						124.0	103.0	110.0					6																	45922898		2203	4300	6503	SO:0001819	synonymous_variant	53405	exon2			GACATTGAACACG	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.624C>T	chr6.hg19:g.45922898G>A		42.0	0.0		198.0	20.0	NM_001114086	B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Silent	SNP	ENST00000185206.6	hg19	CCDS47438.1																																																																																			.	.		0.473	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1		
PLA2G7	7941	hgsc.bcm.edu	37	6	46672428	46672428	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:46672428G>C	ENST00000274793.7	-	12	1391	c.1195C>G	c.(1195-1197)Cat>Gat	p.H399D	PLA2G7_ENST00000537365.1_Missense_Mutation_p.H399D	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	399					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAATCTTTATGAAGTCCTATA	0.338																																					p.H399D		Atlas-SNP	.											.	PLA2G7	49	.	0			c.C1195G						.						72.0	67.0	69.0					6																	46672428		2202	4298	6500	SO:0001583	missense	7941	exon12			CTTTATGAAGTCC	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.1195C>G	chr6.hg19:g.46672428G>C	ENSP00000274793:p.His399Asp	92.0	0.0		306.0	26.0	NM_005084	A5HTT5|Q15692|Q5VTT1|Q8IVA2	Missense_Mutation	SNP	ENST00000274793.7	hg19	CCDS4917.1	.	.	.	.	.	.	.	.	.	.	G	9.263	1.043790	0.19748	.	.	ENSG00000146070	ENST00000274793;ENST00000537365	T;T	0.39406	1.08;1.08	5.5	2.48	0.30137	.	0.960419	0.08735	N	0.901426	T	0.09598	0.0236	N	0.12182	0.205	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	10	0.13853	T	0.58	.	9.9133	0.41419	0.0:0.1357:0.5908:0.2735	.	399	Q13093	PAFA_HUMAN	D	399	ENSP00000274793:H399D;ENSP00000445666:H399D	ENSP00000274793:H399D	H	-	1	0	PLA2G7	46780387	0.995000	0.38212	0.982000	0.44146	0.966000	0.64601	0.383000	0.20651	0.254000	0.21573	0.561000	0.74099	CAT	.	.		0.338	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
GPR110	266977	hgsc.bcm.edu	37	6	46976681	46976681	+	Splice_Site	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:46976681C>G	ENST00000371253.2	-	11	2705	c.2490G>C	c.(2488-2490)caG>caC	p.Q830H	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Splice_Site_p.Q633H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	830					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTGTTCTCACCTGGAATGCAT	0.443																																					p.Q830H		Atlas-SNP	.											.	GPR110	102	.	0			c.G2490C						.						50.0	55.0	54.0					6																	46976681		2203	4300	6503	SO:0001630	splice_region_variant	266977	exon11			TCTCACCTGGAAT	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2490+1G>C	chr6.hg19:g.46976681C>G		67.0	0.0		226.0	19.0	NM_153840	Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	hg19	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412312	0.83340	.	.	ENSG00000153292	ENST00000371253;ENST00000283297	T;T	0.60424	0.19;0.19	5.9	5.9	0.94986	GPCR, family 2-like (1);	0.000000	0.56097	D	0.000025	T	0.80347	0.4606	M	0.91196	3.185	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82837	-0.0260	9	.	.	.	-16.5137	20.2789	0.98501	0.0:1.0:0.0:0.0	.	830	Q5T601	GP110_HUMAN	H	830;633	ENSP00000360299:Q830H;ENSP00000283297:Q633H	.	Q	-	3	2	GPR110	47084640	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.852000	0.69488	2.788000	0.95919	0.650000	0.86243	CAG	.	.		0.443	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840	Missense_Mutation
PGK2	5232	hgsc.bcm.edu	37	6	49753721	49753721	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:49753721T>A	ENST00000304801.3	-	1	1332	c.1180A>T	c.(1180-1182)Act>Tct	p.T394S		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	394					glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CCGCCTCCAGTGCTGACATGG	0.483																																					p.T394S		Atlas-SNP	.											.	PGK2	87	.	0			c.A1180T						.						114.0	110.0	112.0					6																	49753721		2203	4300	6503	SO:0001583	missense	5232	exon1			CTCCAGTGCTGAC	K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.1180A>T	chr6.hg19:g.49753721T>A	ENSP00000305995:p.Thr394Ser	50.0	0.0		187.0	8.0	NM_138733	B2R6Y8|Q9H107	Missense_Mutation	SNP	ENST00000304801.3	hg19	CCDS4930.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.388149	0.82902	.	.	ENSG00000170950	ENST00000304801	D	0.94330	-3.4	4.19	4.19	0.49359	Phosphoglycerate kinase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96337	0.8805	M	0.92691	3.335	0.58432	D	0.999997	P	0.51537	0.946	P	0.61275	0.886	D	0.96806	0.9593	10	0.72032	D	0.01	-20.2441	11.8373	0.52333	0.0:0.0:0.0:1.0	.	394	P07205	PGK2_HUMAN	S	394	ENSP00000305995:T394S	ENSP00000305995:T394S	T	-	1	0	PGK2	49861680	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.565000	0.67365	2.115000	0.64714	0.477000	0.44152	ACT	.	.		0.483	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040872.1		
IL17F	112744	hgsc.bcm.edu	37	6	52101936	52101936	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:52101936C>T	ENST00000336123.4	-	3	392	c.285G>A	c.(283-285)tcG>tcA	p.S95S		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	95			S -> L (in CANDF6). {ECO:0000269|PubMed:21350122}.		cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GTACAACTTCCGAGGGGTACC	0.557																																					p.S95S		Atlas-SNP	.											.	IL17F	28	.	0			c.G285A						.						53.0	49.0	51.0					6																	52101936		2203	4300	6503	SO:0001819	synonymous_variant	112744	exon3			AACTTCCGAGGGG	AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.285G>A	chr6.hg19:g.52101936C>T		30.0	0.0		96.0	8.0	NM_052872	Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Silent	SNP	ENST00000336123.4	hg19	CCDS4938.1																																																																																			.	.		0.557	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872	
COL9A1	1297	hgsc.bcm.edu	37	6	70993489	70993489	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:70993489G>T	ENST00000357250.6	-	6	889	c.731C>A	c.(730-732)cCc>cAc	p.P244H	COL9A1_ENST00000370499.4_5'Flank|COL9A1_ENST00000320755.7_5'Flank|COL9A1_ENST00000370496.3_Missense_Mutation_p.P244H	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	244	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GGGCCGCAGGGGGTCACAATG	0.512																																					p.P244H		Atlas-SNP	.											.	COL9A1	228	.	0			c.C731A						.						105.0	86.0	92.0					6																	70993489		2203	4300	6503	SO:0001583	missense	1297	exon6			CGCAGGGGGTCAC		CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.731C>A	chr6.hg19:g.70993489G>T	ENSP00000349790:p.Pro244His	61.0	0.0		170.0	26.0	NM_001851	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	hg19	CCDS4971.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204529	0.79127	.	.	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.02525	4.26;4.26	5.56	5.56	0.83823	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.148765	0.47852	D	0.000213	T	0.14013	0.0339	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00804	-1.1559	10	0.87932	D	0	.	18.5065	0.90900	0.0:0.0:1.0:0.0	.	244	P20849	CO9A1_HUMAN	H	244	ENSP00000349790:P244H;ENSP00000359527:P244H	ENSP00000349790:P244H	P	-	2	0	COL9A1	71050210	1.000000	0.71417	0.992000	0.48379	0.861000	0.49209	7.215000	0.77966	2.633000	0.89246	0.655000	0.94253	CCC	.	.		0.512	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2		
COL12A1	1303	hgsc.bcm.edu	37	6	75884785	75884785	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:75884785G>T	ENST00000322507.8	-	13	2988	c.2679C>A	c.(2677-2679)gaC>gaA	p.D893E	COL12A1_ENST00000416123.2_Missense_Mutation_p.D893E|COL12A1_ENST00000483888.2_Missense_Mutation_p.D893E|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	893	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAAAGAGGGCGTCTCCAGCCC	0.468																																					p.D893E		Atlas-SNP	.											.	COL12A1	385	.	0			c.C2679A						.						190.0	186.0	187.0					6																	75884785		1983	4159	6142	SO:0001583	missense	1303	exon13			GAGGGCGTCTCCA	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2679C>A	chr6.hg19:g.75884785G>T	ENSP00000325146:p.Asp893Glu	66.0	0.0		108.0	5.0	NM_004370	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	hg19	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.482005	0.01027	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.51817	0.69;0.69;0.69	5.94	-8.61	0.00885	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.463941	0.21967	N	0.066519	T	0.02304	0.0071	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32771	-0.9894	10	0.05436	T	0.98	.	0.6516	0.00828	0.2097:0.1677:0.2157:0.4069	.	893	Q99715	COCA1_HUMAN	E	893	ENSP00000325146:D893E;ENSP00000412864:D893E;ENSP00000421216:D893E	ENSP00000325146:D893E	D	-	3	2	COL12A1	75941505	0.000000	0.05858	0.397000	0.26308	0.387000	0.30353	-3.514000	0.00445	-1.602000	0.01599	-2.049000	0.00408	GAC	.	.		0.468	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
FILIP1	27145	hgsc.bcm.edu	37	6	76024218	76024218	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:76024218T>A	ENST00000237172.7	-	5	1660	c.1330A>T	c.(1330-1332)Aag>Tag	p.K444*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.K444*|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.K345*|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	444										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GATTTACTCTTGCTAAATGCT	0.408																																					p.K444X		Atlas-SNP	.											.	FILIP1	173	.	0			c.A1330T						.						141.0	142.0	142.0					6																	76024218		2203	4300	6503	SO:0001587	stop_gained	27145	exon5			TACTCTTGCTAAA	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1330A>T	chr6.hg19:g.76024218T>A	ENSP00000237172:p.Lys444*	148.0	0.0		236.0	36.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	T	38	6.803656	0.97849	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.65	3.07	0.35406	.	0.221173	0.45867	D	0.000329	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.2141	12.2983	0.54860	0.0:0.0:0.2768:0.7232	.	.	.	.	X	444;444;345	.	ENSP00000237172:K444X	K	-	1	0	FILIP1	76080938	0.800000	0.28916	1.000000	0.80357	0.942000	0.58702	0.942000	0.29017	1.057000	0.40506	0.533000	0.62120	AAG	.	.		0.408	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
ME1	4199	hgsc.bcm.edu	37	6	84117526	84117526	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:84117526A>T	ENST00000369705.3	-	2	289	c.173T>A	c.(172-174)gTa>gAa	p.V58E	ME1_ENST00000541327.1_Intron|ME1_ENST00000543031.1_Intron	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	58					carbohydrate metabolic process (GO:0005975)|cellular lipid metabolic process (GO:0044255)|malate metabolic process (GO:0006108)|NADP biosynthetic process (GO:0006741)|protein tetramerization (GO:0051262)|response to carbohydrate (GO:0009743)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|electron carrier activity (GO:0009055)|malate dehydrogenase (decarboxylating) (NAD+) activity (GO:0004471)|malate dehydrogenase (decarboxylating) (NADP+) activity (GO:0004473)|malic enzyme activity (GO:0004470)|manganese ion binding (GO:0030145)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|oxaloacetate decarboxylase activity (GO:0008948)			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)		ATTTTTTACTACTCTAAGAAC	0.388																																					p.V58E		Atlas-SNP	.											.	ME1	68	.	0			c.T173A						.						132.0	136.0	134.0					6																	84117526		2203	4300	6503	SO:0001583	missense	4199	exon2			TTTACTACTCTAA	X77244	CCDS34492.1	6q12	2012-10-02			ENSG00000065833	ENSG00000065833	1.1.1.40		6983	protein-coding gene	gene with protein product		154250				8187880	Standard	NM_002395		Approved		uc003pjy.3	P48163	OTTHUMG00000015111	ENST00000369705.3:c.173T>A	chr6.hg19:g.84117526A>T	ENSP00000358719:p.Val58Glu	61.0	0.0		85.0	12.0	NM_002395	B4DZ70|Q16797|Q16855|Q53F72|Q5VWA2|Q9BWX8|Q9H1W3|Q9UIY4	Missense_Mutation	SNP	ENST00000369705.3	hg19	CCDS34492.1	.	.	.	.	.	.	.	.	.	.	A	16.00	2.997740	0.54147	.	.	ENSG00000065833	ENST00000369705	T	0.23950	1.88	5.43	5.43	0.79202	.	0.312221	0.33895	N	0.004458	T	0.43055	0.1230	M	0.84326	2.69	0.80722	D	1	D	0.56968	0.978	P	0.61477	0.889	T	0.49143	-0.8970	10	0.56958	D	0.05	-7.0144	15.4817	0.75534	1.0:0.0:0.0:0.0	.	58	P48163	MAOX_HUMAN	E	58	ENSP00000358719:V58E	ENSP00000358719:V58E	V	-	2	0	ME1	84174245	0.987000	0.35691	0.061000	0.19648	0.003000	0.03518	9.009000	0.93606	2.054000	0.61138	0.528000	0.53228	GTA	.	.		0.388	ME1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041350.1		
GPR63	81491	hgsc.bcm.edu	37	6	97246970	97246970	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:97246970A>G	ENST00000229955.3	-	2	983	c.638T>C	c.(637-639)tTa>tCa	p.L213S	GPR63_ENST00000417980.1_Missense_Mutation_p.L213S	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	213						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		TCCTACGGCTAAAGGAAAAGC	0.458																																					p.L213S		Atlas-SNP	.											.	GPR63	60	.	0			c.T638C						.						75.0	75.0	75.0					6																	97246970		2203	4300	6503	SO:0001583	missense	81491	exon2			ACGGCTAAAGGAA	AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.638T>C	chr6.hg19:g.97246970A>G	ENSP00000229955:p.Leu213Ser	62.0	0.0		86.0	25.0	NM_030784	Q9UJH3	Missense_Mutation	SNP	ENST00000229955.3	hg19	CCDS5036.1	.	.	.	.	.	.	.	.	.	.	A	11.24	1.580195	0.28180	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.38560	1.13;1.13;1.13	5.3	4.13	0.48395	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000010	T	0.10337	0.0253	N	0.12422	0.21	0.54753	D	0.999985	B	0.32526	0.374	B	0.28991	0.097	T	0.08889	-1.0700	10	0.22109	T	0.4	-0.8812	11.3705	0.49697	0.9282:0.0:0.0718:0.0	.	213	Q9BZJ6	GPR63_HUMAN	S	237;213;213;213	ENSP00000393170:L213S;ENSP00000229955:L213S;ENSP00000358273:L213S	ENSP00000229955:L213S	L	-	2	0	GPR63	97353691	1.000000	0.71417	0.840000	0.33206	0.724000	0.41520	8.910000	0.92685	0.957000	0.37930	0.528000	0.53228	TTA	.	.		0.458	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041566.2		
FBXL4	26235	hgsc.bcm.edu	37	6	99322272	99322272	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:99322272G>T	ENST00000369244.2	-	10	2176	c.1748C>A	c.(1747-1749)tCt>tAt	p.S583Y	FBXL4_ENST00000229971.1_Missense_Mutation_p.S583Y	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	583					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		ATCTTTACAAGATTCCAGGAG	0.343																																					p.S583Y		Atlas-SNP	.											.	FBXL4	54	.	0			c.C1748A						.						119.0	123.0	122.0					6																	99322272		2203	4300	6503	SO:0001583	missense	26235	exon9			TTACAAGATTCCA	AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.1748C>A	chr6.hg19:g.99322272G>T	ENSP00000358247:p.Ser583Tyr	91.0	0.0		164.0	13.0	NM_012160	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	ENST00000369244.2	hg19	CCDS5041.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783913	0.49891	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.19105	2.17;2.17	5.95	5.08	0.68730	.	0.166936	0.53938	D	0.000042	T	0.11707	0.0285	L	0.40543	1.245	0.45867	D	0.998725	P	0.36789	0.57	B	0.40101	0.319	T	0.04796	-1.0926	10	0.30854	T	0.27	.	15.774	0.78193	0.0:0.3814:0.6186:0.0	.	583	Q9UKA2	FBXL4_HUMAN	Y	583	ENSP00000358247:S583Y;ENSP00000229971:S583Y	ENSP00000229971:S583Y	S	-	2	0	FBXL4	99428993	1.000000	0.71417	0.990000	0.47175	0.999000	0.98932	4.331000	0.59273	1.504000	0.48704	0.655000	0.94253	TCT	.	.		0.343	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041587.2		
REV3L	5980	hgsc.bcm.edu	37	6	111678241	111678241	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:111678241T>A	ENST00000358835.3	-	19	7614	c.7160A>T	c.(7159-7161)cAt>cTt	p.H2387L	REV3L_ENST00000368805.1_Missense_Mutation_p.H2387L|REV3L_ENST00000368802.3_Missense_Mutation_p.H2387L|REV3L_ENST00000435970.1_Missense_Mutation_p.H2309L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2387					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TGCAATTTCATGAAAAAGTGC	0.323								DNA polymerases (catalytic subunits)																													p.H2387L		Atlas-SNP	.											.	REV3L	386	.	0			c.A7160T						.						90.0	99.0	96.0					6																	111678241		2203	4300	6503	SO:0001583	missense	5980	exon18			ATTTCATGAAAAA	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.7160A>T	chr6.hg19:g.111678241T>A	ENSP00000351697:p.His2387Leu	93.0	0.0		165.0	27.0	NM_002912	O43214|Q5TC33	Missense_Mutation	SNP	ENST00000358835.3	hg19	CCDS5091.2	.	.	.	.	.	.	.	.	.	.	T	16.23	3.065852	0.55539	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970;ENST00000543871	T;T;T;T	0.08720	3.06;3.06;3.06;3.06	5.93	5.93	0.95920	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.188610	0.47455	D	0.000229	T	0.01800	0.0057	N	0.02247	-0.625	0.39361	D	0.965926	B	0.06786	0.001	B	0.01281	0.0	T	0.49312	-0.8953	10	0.44086	T	0.13	-0.8613	16.3766	0.83401	0.0:0.0:0.0:1.0	.	2387	O60673	DPOLZ_HUMAN	L	2387;2387;2387;2309;460	ENSP00000357792:H2387L;ENSP00000357795:H2387L;ENSP00000351697:H2387L;ENSP00000402003:H2309L	ENSP00000351697:H2387L	H	-	2	0	REV3L	111784934	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.213000	0.77950	2.263000	0.75096	0.533000	0.62120	CAT	.	.		0.323	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912	
HDAC2	3066	hgsc.bcm.edu	37	6	114264582	114264582	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:114264582A>T	ENST00000519065.1	-	12	1687	c.1311T>A	c.(1309-1311)gaT>gaA	p.D437E	HDAC2_ENST00000398283.2_Missense_Mutation_p.D531E|HDAC2_ENST00000368632.2_Missense_Mutation_p.D407E|HDAC2_ENST00000519108.1_Missense_Mutation_p.D407E			Q92769	HDAC2_HUMAN	histone deacetylase 2	437					ATP-dependent chromatin remodeling (GO:0043044)|blood coagulation (GO:0007596)|cardiac muscle cell development (GO:0055013)|chromatin remodeling (GO:0006338)|circadian regulation of gene expression (GO:0032922)|dendrite development (GO:0016358)|embryonic digit morphogenesis (GO:0042733)|epidermal cell differentiation (GO:0009913)|eyelid development in camera-type eye (GO:0061029)|fungiform papilla formation (GO:0061198)|hair follicle placode formation (GO:0060789)|hippocampus development (GO:0021766)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|maintenance of chromatin silencing (GO:0006344)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of cell cycle (GO:0045786)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of neuron projection development (GO:0010977)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of proteolysis (GO:0045862)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein deacetylation (GO:0090311)|regulation of protein kinase B signaling (GO:0051896)|regulation of sarcomere organization (GO:0060297)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|replication fork (GO:0005657)|Sin3 complex (GO:0016580)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|poly(A) RNA binding (GO:0044822)|protein deacetylase activity (GO:0033558)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Aminophylline(DB01223)|Lovastatin(DB00227)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Valproic Acid(DB00313)|Vorinostat(DB02546)	ctttcttATGATCAGCCACAT	0.378																																					p.D437E		Atlas-SNP	.											.	HDAC2	102	.	0			c.T1311A						.						168.0	156.0	160.0					6																	114264582		1866	4104	5970	SO:0001583	missense	3066	exon12			CTTATGATCAGCC	U31814	CCDS43493.1, CCDS43493.2	6q21	2008-08-29			ENSG00000196591	ENSG00000196591			4853	protein-coding gene	gene with protein product		605164				9782097	Standard	NM_001527		Approved	RPD3, YAF1	uc003pwd.2	Q92769	OTTHUMG00000015411	ENST00000519065.1:c.1311T>A	chr6.hg19:g.114264582A>T	ENSP00000430432:p.Asp437Glu	71.0	0.0		72.0	11.0	NM_001527	B3KRS5|B4DL58|E1P561|Q5SRI8|Q5SZ86|Q8NEH4	Missense_Mutation	SNP	ENST00000519065.1	hg19	CCDS43493.2	.	.	.	.	.	.	.	.	.	.	A	14.99	2.700563	0.48307	.	.	ENSG00000196591	ENST00000519065;ENST00000398283;ENST00000519108;ENST00000368632	T;T;T;T	0.73047	-0.69;-0.71;-0.69;-0.69	6.16	3.79	0.43588	.	0.073236	0.56097	N	0.000032	T	0.30198	0.0757	N	0.16098	0.37	0.42098	D	0.99132	B;B	0.19583	0.0;0.037	B;B	0.18263	0.001;0.021	T	0.09773	-1.0659	10	0.14656	T	0.56	-45.4507	10.4506	0.44520	0.8697:0.0:0.1303:0.0	.	407;437	B3KRS5;Q92769	.;HDAC2_HUMAN	E	437;531;407;407	ENSP00000430432:D437E;ENSP00000381331:D531E;ENSP00000430008:D407E;ENSP00000357621:D407E	ENSP00000357621:D407E	D	-	3	2	HDAC2	114371275	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.696000	0.47052	0.567000	0.29293	-0.256000	0.11100	GAT	.	.		0.378	HDAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041909.2		
TPD52L1	7164	hgsc.bcm.edu	37	6	125584076	125584076	+	Missense_Mutation	SNP	C	C	T	rs559154046		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:125584076C>T	ENST00000534000.1	+	7	879	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000527711.1_Missense_Mutation_p.R182W|TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000368388.2_3'UTR|TPD52L1_ENST00000304877.13_Missense_Mutation_p.R200W|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000532429.1_Missense_Mutation_p.R166W|TPD52L1_ENST00000534199.1_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	195					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGGAGGCTCCCGGCGGACCAA	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14409	0.0		0.0	False		,,,				2504	0.0				p.R195W		Atlas-SNP	.											.	TPD52L1	14	.	0			c.C583T						.						37.0	35.0	36.0					6																	125584076		2203	4300	6503	SO:0001583	missense	7164	exon7			GGCTCCCGGCGGA	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.583C>T	chr6.hg19:g.125584076C>T	ENSP00000434142:p.Arg195Trp	22.0	0.0		51.0	15.0	NM_003287	A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Missense_Mutation	SNP	ENST00000534000.1	hg19	CCDS5130.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896287	0.33442	.	.	ENSG00000111907	ENST00000304877;ENST00000534000;ENST00000527711;ENST00000532429;ENST00000392484	T;T;T;T	0.48201	1.4;1.39;1.77;0.82	5.53	2.67	0.31697	.	1.108680	0.06628	N	0.758775	T	0.10981	0.0268	N	0.08118	0	0.22666	N	0.998871	B	0.02656	0.0	B	0.01281	0.0	T	0.31806	-0.9930	10	0.66056	D	0.02	-3.2296	5.1614	0.15064	0.1497:0.627:0.1444:0.0789	.	195	Q16890	TPD53_HUMAN	W	200;195;182;166;195	ENSP00000306285:R200W;ENSP00000434142:R195W;ENSP00000436953:R182W;ENSP00000435447:R166W	ENSP00000306285:R200W	R	+	1	2	TPD52L1	125625775	0.004000	0.15560	0.012000	0.15200	0.850000	0.48378	1.103000	0.31062	0.253000	0.21552	-0.133000	0.14855	CGG	.	.		0.612	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		
PLEKHG1	57480	hgsc.bcm.edu	37	6	151161944	151161944	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:151161944T>G	ENST00000358517.2	+	16	4281	c.4070T>G	c.(4069-4071)cTt>cGt	p.L1357R	PLEKHG1_ENST00000367328.1_Missense_Mutation_p.L1357R			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	1357							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AATGACTATCTTTGGAGGGGG	0.408																																					p.L1357R		Atlas-SNP	.											.	PLEKHG1	97	.	0			c.T4070G						.						86.0	87.0	86.0					6																	151161944		2203	4300	6503	SO:0001583	missense	57480	exon17			ACTATCTTTGGAG	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.4070T>G	chr6.hg19:g.151161944T>G	ENSP00000351318:p.Leu1357Arg	67.0	0.0		77.0	8.0	NM_001029884	Q5T1F2	Missense_Mutation	SNP	ENST00000358517.2	hg19	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	T	23.0	4.366450	0.82463	.	.	ENSG00000120278	ENST00000367328;ENST00000358517	T;T	0.71934	-0.61;-0.61	5.7	5.7	0.88788	.	0.175401	0.51477	D	0.000093	T	0.79516	0.4459	M	0.66939	2.045	0.48571	D	0.99967	D;D	0.89917	1.0;0.998	D;D	0.76575	0.988;0.915	T	0.82540	-0.0406	10	0.87932	D	0	.	15.9568	0.79893	0.0:0.0:0.0:1.0	.	1164;1357	Q5EBL9;Q9ULL1	.;PKHG1_HUMAN	R	1357	ENSP00000356297:L1357R;ENSP00000351318:L1357R	ENSP00000351318:L1357R	L	+	2	0	PLEKHG1	151203637	1.000000	0.71417	0.992000	0.48379	0.984000	0.73092	7.170000	0.77587	2.160000	0.67779	0.533000	0.62120	CTT	.	.		0.408	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		
SYNE1	23345	hgsc.bcm.edu	37	6	152583243	152583243	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:152583243C>A	ENST00000367255.5	-	101	19497	c.18896G>T	c.(18895-18897)tGg>tTg	p.W6299L	SYNE1_ENST00000448038.1_Missense_Mutation_p.W6228L|SYNE1_ENST00000341594.5_Missense_Mutation_p.W5911L|SYNE1_ENST00000356820.4_Missense_Mutation_p.W823L|SYNE1_ENST00000265368.4_Missense_Mutation_p.W6299L|SYNE1_ENST00000423061.1_Missense_Mutation_p.W6228L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6299					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TAGGCTTTCCCATTTCATTCT	0.373										HNSCC(10;0.0054)																											p.W6299L		Atlas-SNP	.											.	SYNE1	3227	.	0			c.G18896T						.						157.0	144.0	148.0					6																	152583243		2203	4300	6503	SO:0001583	missense	23345	exon101			CTTTCCCATTTCA	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.18896G>T	chr6.hg19:g.152583243C>A	ENSP00000356224:p.Trp6299Leu	123.0	0.0		147.0	18.0	NM_182961	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	hg19	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	29.2	4.982397	0.93044	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	D;D;D;D;D;T	0.86865	-2.09;-2.12;-2.18;-2.1;-1.56;0.05	5.96	5.96	0.96718	.	0.000000	0.56097	D	0.000035	D	0.92198	0.7526	M	0.72894	2.215	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89072	0.3470	10	0.32370	T	0.25	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	6299;6299;6228	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6299;6228;6299;6228;5911;823	ENSP00000356224:W6299L;ENSP00000396024:W6228L;ENSP00000265368:W6299L;ENSP00000390975:W6228L;ENSP00000341887:W5911L;ENSP00000349276:W823L	ENSP00000265368:W6299L	W	-	2	0	SYNE1	152624936	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.439000	0.73430	2.831000	0.97527	0.650000	0.86243	TGG	.	.		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
PDE10A	10846	hgsc.bcm.edu	37	6	165846593	165846593	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:165846593C>G	ENST00000366882.1	-	8	686	c.532G>C	c.(532-534)Gga>Cga	p.G178R	PDE10A_ENST00000539869.2_Missense_Mutation_p.G188R|PDE10A_ENST00000354448.4_Missense_Mutation_p.G178R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	178	GAF 1.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	GATTCCAGTCCAGTACCTCTT	0.388																																					p.G188R	Esophageal Squamous(22;308 615 5753 12038 40624)	Atlas-SNP	.											.	PDE10A	154	.	0			c.G562C						.						94.0	90.0	91.0					6																	165846593		2203	4300	6503	SO:0001583	missense	10846	exon7			CCAGTCCAGTACC	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.532G>C	chr6.hg19:g.165846593C>G	ENSP00000355847:p.Gly178Arg	88.0	0.0		160.0	10.0	NM_001130690	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.8	4.867217	0.91511	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.69435	-0.4;-0.4	5.89	5.89	0.94794	GAF (2);	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.68952	2.095	0.80722	D	1	D;P	0.89917	1.0;0.86	D;P	0.97110	1.0;0.643	T	0.79475	-0.1788	10	0.72032	D	0.01	.	20.2508	0.98407	0.0:1.0:0.0:0.0	.	188;178	Q9ULW9;Q9Y233	.;PDE10_HUMAN	R	178;206;188;178;177	ENSP00000355847:G178R;ENSP00000346435:G178R	ENSP00000341187:G188R	G	-	1	0	PDE10A	165766583	1.000000	0.71417	0.927000	0.36925	0.842000	0.47809	7.538000	0.82048	2.788000	0.95919	0.585000	0.79938	GGA	.	.		0.388	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		
PHF10	55274	hgsc.bcm.edu	37	6	170105298	170105298	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:170105298T>C	ENST00000339209.4	-	11	1465	c.1342A>G	c.(1342-1344)Atg>Gtg	p.M448V	PHF10_ENST00000366780.4_Missense_Mutation_p.M446V|C6orf120_ENST00000332290.2_3'UTR	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	448					nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	npBAF complex (GO:0071564)	zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		CAGAACATCATTTCTTCTTCA	0.373																																					p.M448V		Atlas-SNP	.											.	PHF10	76	.	0			c.A1342G						.						186.0	161.0	169.0					6																	170105298		2203	4300	6503	SO:0001583	missense	55274	exon11			ACATCATTTCTTC	AF338735	CCDS5308.2, CCDS5309.2	6q27	2014-05-13			ENSG00000130024	ENSG00000130024		"""Zinc fingers, PHD-type"""	18250	protein-coding gene	gene with protein product		613069				11827455	Standard	NM_018288		Approved	FLJ10975, XAP135, BAF45a	uc011egy.2	Q8WUB8	OTTHUMG00000016058	ENST00000339209.4:c.1342A>G	chr6.hg19:g.170105298T>C	ENSP00000341805:p.Met448Val	72.0	0.0		97.0	18.0	NM_018288	Q2YDA3|Q53HG8|Q9BXD2|Q9NV26	Missense_Mutation	SNP	ENST00000339209.4	hg19	CCDS5308.2	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652033	0.67472	.	.	ENSG00000130024	ENST00000366780;ENST00000339209	D;D	0.88664	-2.41;-2.41	5.91	5.91	0.95273	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.035139	0.85682	D	0.000000	D	0.89996	0.6877	M	0.80332	2.49	0.58432	D	0.999998	P;B	0.46064	0.872;0.392	P;P	0.48304	0.522;0.573	D	0.91696	0.5370	10	0.87932	D	0	-27.6999	15.5248	0.75894	0.0:0.0:0.0:1.0	.	446;448	Q8WUB8-2;Q8WUB8	.;PHF10_HUMAN	V	446;448	ENSP00000355743:M446V;ENSP00000341805:M448V	ENSP00000341805:M448V	M	-	1	0	PHF10	169847223	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.457000	0.80775	2.269000	0.75478	0.533000	0.62120	ATG	.	.		0.373	PHF10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346732.1	NM_018288	
FSCN1	6624	hgsc.bcm.edu	37	7	5643546	5643546	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:5643546C>T	ENST00000382361.3	+	4	1278	c.1164C>T	c.(1162-1164)ttC>ttT	p.F388F	FSCN1_ENST00000340250.6_Silent_p.F367F	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	388					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		TCATCGTGTTCCGCGGGGAGC	0.622																																					p.F388F		Atlas-SNP	.											.	FSCN1	29	.	0			c.C1164T						.						65.0	63.0	64.0					7																	5643546		2203	4300	6503	SO:0001819	synonymous_variant	6624	exon4			CGTGTTCCGCGGG	U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.1164C>T	chr7.hg19:g.5643546C>T		26.0	0.0		89.0	59.0	NM_003088	A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Silent	SNP	ENST00000382361.3	hg19	CCDS5342.1																																																																																			.	.		0.622	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3	NM_003088	
GRID2IP	392862	hgsc.bcm.edu	37	7	6590947	6590947	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:6590947C>G	ENST00000457091.2	-	1	120	c.121G>C	c.(121-123)Gga>Cga	p.G41R		NM_001145118.1	NP_001138590.1	A4D2P6	GRD2I_HUMAN	glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein	41	PDZ 1. {ECO:0000255|PROSITE- ProRule:PRU00143}.				long term synaptic depression (GO:0060292)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				endometrium(4)	4						CGCAGTCCTCCGGCATGCGCG	0.721																																					p.G41R		Atlas-SNP	.											.	GRID2IP	82	.	0			c.G121C						.						6.0	9.0	8.0					7																	6590947		685	1580	2265	SO:0001583	missense	392862	exon1			GTCCTCCGGCATG		CCDS47537.1	7p22	2007-10-05	2006-03-01		ENSG00000215045	ENSG00000215045			18464	protein-coding gene	gene with protein product		610639	"""glutamate receptor, ionotropic, delta 2 (Grid2) interacting protein 1"""			14612983	Standard	NM_001145118		Approved		uc011jwx.2	A4D2P6	OTTHUMG00000155531	ENST00000457091.2:c.121G>C	chr7.hg19:g.6590947C>G	ENSP00000397351:p.Gly41Arg	6.0	0.0		26.0	12.0	NM_001145118		Missense_Mutation	SNP	ENST00000457091.2	hg19	CCDS47537.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790646	0.50102	.	.	ENSG00000215045	ENST00000457091	T	0.29397	1.57	4.72	4.72	0.59763	PDZ/DHR/GLGF (4);	0.247431	0.16700	U	0.203169	T	0.46092	0.1375	L	0.43701	1.375	0.34620	D	0.718499	D	0.59767	0.986	P	0.62014	0.897	T	0.58901	-0.7554	10	0.87932	D	0	.	15.5495	0.76137	0.0:1.0:0.0:0.0	.	41	A4D2P6	GRD2I_HUMAN	R	41	ENSP00000397351:G41R	ENSP00000397351:G41R	G	-	1	0	GRID2IP	6557472	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	5.079000	0.64431	2.340000	0.79590	0.455000	0.32223	GGA	.	.		0.721	GRID2IP-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340534.1	XM_294249	
MPP6	51678	hgsc.bcm.edu	37	7	24705683	24705683	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:24705683G>C	ENST00000222644.5	+	8	1177	c.927G>C	c.(925-927)atG>atC	p.M309I	MPP6_ENST00000409761.1_Missense_Mutation_p.M197I|MPP6_ENST00000396475.2_Missense_Mutation_p.M309I			Q99547	MPH6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)	0					maturation of 5.8S rRNA (GO:0000460)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.M309I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AGAAAAAGATGATGTATCTCA	0.303																																					p.M309I		Atlas-SNP	.											.	MPP6	62	.	1	Substitution - Missense(1)	lung(1)	c.G927C						.						92.0	107.0	102.0					7																	24705683		2197	4293	6490	SO:0001583	missense	51678	exon9			AAAGATGATGTAT	AF162130	CCDS5388.1	7p15	2007-08-01			ENSG00000105926	ENSG00000105926			18167	protein-coding gene	gene with protein product		606959				10753959, 11311936	Standard	NM_016447		Approved	PALS2, VAM-1, p55T	uc003swx.3	Q9NZW5	OTTHUMG00000023507	ENST00000222644.5:c.927G>C	chr7.hg19:g.24705683G>C	ENSP00000222644:p.Met309Ile	69.0	0.0		176.0	8.0	NM_016447	B2RAF0	Missense_Mutation	SNP	ENST00000222644.5	hg19	CCDS5388.1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.624452	0.46840	.	.	ENSG00000105926	ENST00000222644;ENST00000409761;ENST00000396475	D;D;D	0.82167	-1.58;-1.58;-1.58	5.32	5.32	0.75619	Src homology-3 domain (1);	0.000000	0.64402	D	0.000002	T	0.73877	0.3643	N	0.16743	0.435	0.80722	D	1	B	0.17268	0.021	B	0.12156	0.007	T	0.67707	-0.5601	10	0.36615	T	0.2	.	18.9769	0.92740	0.0:0.0:1.0:0.0	.	309	Q9NZW5	MPP6_HUMAN	I	309;197;309	ENSP00000222644:M309I;ENSP00000386262:M197I;ENSP00000379737:M309I	ENSP00000222644:M309I	M	+	3	0	MPP6	24672208	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.794000	0.85869	2.477000	0.83638	0.591000	0.81541	ATG	.	.		0.303	MPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250272.4		
HECW1	23072	hgsc.bcm.edu	37	7	43484350	43484350	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:43484350T>A	ENST00000395891.2	+	11	2184	c.1579T>A	c.(1579-1581)Tcg>Acg	p.S527T	HECW1_ENST00000453890.1_Missense_Mutation_p.S527T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	527					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCTGCGGGCCTCGGTGAAGAG	0.652																																					p.S527T		Atlas-SNP	.											.	HECW1	540	.	0			c.T1579A						.						26.0	34.0	31.0					7																	43484350		2132	4229	6361	SO:0001583	missense	23072	exon11			CGGGCCTCGGTGA	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1579T>A	chr7.hg19:g.43484350T>A	ENSP00000379228:p.Ser527Thr	42.0	0.0		155.0	24.0	NM_015052	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	hg19	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	T	2.333	-0.353009	0.05173	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.30448	1.53;1.54	5.32	4.15	0.48705	.	.	.	.	.	T	0.19644	0.0472	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20505	-1.0273	9	0.30854	T	0.27	.	5.9688	0.19340	0.2829:0.0:0.1247:0.5924	.	527;527	B4DH42;Q76N89	.;HECW1_HUMAN	T	527	ENSP00000379228:S527T;ENSP00000407774:S527T	ENSP00000265522:S527T	S	+	1	0	HECW1	43450875	0.002000	0.14202	0.029000	0.17559	0.126000	0.20510	0.651000	0.24873	0.838000	0.34948	0.533000	0.62120	TCG	.	.		0.652	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
PKD1L1	168507	hgsc.bcm.edu	37	7	47876625	47876625	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:47876625G>A	ENST00000289672.2	-	37	5887	c.5837C>T	c.(5836-5838)cCc>cTc	p.P1946L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1946					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCTGGAGGAGGGCCTGCTGTA	0.582																																					p.P1946L		Atlas-SNP	.											.	PKD1L1	328	.	0			c.C5837T						.						60.0	53.0	55.0					7																	47876625		2203	4300	6503	SO:0001583	missense	168507	exon37			GAGGAGGGCCTGC	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.5837C>T	chr7.hg19:g.47876625G>A	ENSP00000289672:p.Pro1946Leu	34.0	0.0		149.0	71.0	NM_138295	Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	hg19	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354085	0.82243	.	.	ENSG00000158683	ENST00000289672	T	0.28895	1.59	5.1	4.22	0.49857	.	0.000000	0.64402	D	0.000005	T	0.58481	0.2125	M	0.87381	2.88	0.49687	D	0.999811	D	0.89917	1.0	D	0.87578	0.998	T	0.64360	-0.6426	10	0.72032	D	0.01	-33.0327	11.2105	0.48795	0.0904:0.0:0.9096:0.0	.	1946	Q8TDX9	PK1L1_HUMAN	L	1946	ENSP00000289672:P1946L	ENSP00000289672:P1946L	P	-	2	0	PKD1L1	47843150	1.000000	0.71417	0.890000	0.34922	0.996000	0.88848	6.472000	0.73567	1.134000	0.42165	0.655000	0.94253	CCC	.	.		0.582	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295	
ABCA13	154664	hgsc.bcm.edu	37	7	48443391	48443391	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:48443391G>T	ENST00000435803.1	+	39	12009	c.11985G>T	c.(11983-11985)agG>agT	p.R3995S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3995	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCATGTCGAGGACCGTGGTTC	0.572																																					p.R3995S		Atlas-SNP	.											.	ABCA13	1192	.	0			c.G11985T						.						91.0	92.0	92.0					7																	48443391		2008	4168	6176	SO:0001583	missense	154664	exon39			GTCGAGGACCGTG	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11985G>T	chr7.hg19:g.48443391G>T	ENSP00000411096:p.Arg3995Ser	61.0	0.0		115.0	11.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	9.789	1.177279	0.21787	.	.	ENSG00000179869	ENST00000435803	D	0.93307	-3.2	6.17	1.96	0.26148	ATPase, AAA+ type, core (1);ABC transporter-like (2);	1.053980	0.07446	N	0.898305	D	0.85767	0.5773	N	0.17764	0.52	0.09310	N	1	B;B	0.30146	0.27;0.097	B;B	0.26693	0.072;0.032	T	0.76580	-0.2907	10	0.56958	D	0.05	.	3.9532	0.09379	0.1998:0.1068:0.5712:0.1222	.	1697;3995	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	S	3995	ENSP00000411096:R3995S	ENSP00000411096:R3995S	R	+	3	2	ABCA13	48413937	0.001000	0.12720	0.198000	0.23420	0.316000	0.28119	-0.199000	0.09491	0.484000	0.27630	-0.176000	0.13171	AGG	.	.		0.572	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
ABCA13	154664	hgsc.bcm.edu	37	7	48559659	48559659	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:48559659T>C	ENST00000435803.1	+	53	13844	c.13820T>C	c.(13819-13821)gTc>gCc	p.V4607A	ABCA13_ENST00000544596.1_Missense_Mutation_p.V337A	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4607					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCTATGATGTCCTCAAGTGG	0.328																																					p.V4607A		Atlas-SNP	.											.	ABCA13	1192	.	0			c.T13820C						.						101.0	89.0	93.0					7																	48559659		1833	4073	5906	SO:0001583	missense	154664	exon53			ATGATGTCCTCAA	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.13820T>C	chr7.hg19:g.48559659T>C	ENSP00000411096:p.Val4607Ala	56.0	0.0		177.0	97.0	NM_152701	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	hg19	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.520975	0.44866	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	D;D;D	0.86694	-2.16;-2.16;-2.16	5.35	1.61	0.23674	.	0.474755	0.17696	N	0.165083	D	0.82586	0.5069	L	0.41824	1.3	0.19300	N	0.99998	B;P;P	0.51791	0.321;0.459;0.948	B;B;P	0.49799	0.205;0.173;0.622	T	0.72849	-0.4168	10	0.52906	T	0.07	.	4.1499	0.10234	0.1492:0.1619:0.0:0.6889	.	337;2309;4607	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	A	4607;380;337	ENSP00000411096:V4607A;ENSP00000391042:V380A;ENSP00000442634:V337A	ENSP00000391042:V380A	V	+	2	0	ABCA13	48530205	0.954000	0.32549	0.038000	0.18304	0.982000	0.71751	2.503000	0.45407	0.036000	0.15547	0.528000	0.53228	GTC	.	.		0.328	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	
GUSB	2990	hgsc.bcm.edu	37	7	65440043	65440043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:65440043G>A	ENST00000304895.4	-	6	1058	c.928C>T	c.(928-930)Cag>Tag	p.Q310*	GUSB_ENST00000421103.1_Nonsense_Mutation_p.Q164*|GUSB_ENST00000345660.6_Intron|GUSB_ENST00000476486.1_5'UTR	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	310					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGTGACGTCTGTGCAGTCAGC	0.607																																					p.Q310X		Atlas-SNP	.											.	GUSB	52	.	0			c.C928T						.						70.0	64.0	66.0					7																	65440043		2203	4300	6503	SO:0001587	stop_gained	2990	exon6			ACGTCTGTGCAGT	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.928C>T	chr7.hg19:g.65440043G>A	ENSP00000302728:p.Gln310*	25.0	0.0		110.0	65.0	NM_000181	B4E1F6|E9PCV0|Q549U0|Q96CL9	Nonsense_Mutation	SNP	ENST00000304895.4	hg19	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376815	0.82682	.	.	ENSG00000169919	ENST00000304895;ENST00000421103	.	.	.	4.99	1.04	0.20106	.	0.888310	0.09996	N	0.729024	.	.	.	.	.	.	0.38947	D	0.958264	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	9.8986	0.41334	0.0:0.3697:0.3767:0.2536	.	.	.	.	X	310;164	.	ENSP00000302728:Q310X	Q	-	1	0	GUSB	65077478	0.937000	0.31787	0.003000	0.11579	0.219000	0.24729	1.931000	0.40134	0.005000	0.14708	0.511000	0.50034	CAG	.	.		0.607	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3	NM_000181	
TPST1	8460	hgsc.bcm.edu	37	7	65751568	65751568	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:65751568A>G	ENST00000304842.5	+	3	1341	c.916A>G	c.(916-918)Ata>Gta	p.I306V	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	306					inflammatory response (GO:0006954)|peptidyl-tyrosine sulfation (GO:0006478)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGTTGGGAAGATACCGCCAGA	0.413																																					p.I306V		Atlas-SNP	.											.	TPST1	25	.	0			c.A916G						.						140.0	124.0	130.0					7																	65751568		2203	4300	6503	SO:0001583	missense	8460	exon3			GGGAAGATACCGC	AF038009	CCDS5533.1	7q11.21	2012-12-13			ENSG00000169902	ENSG00000169902	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12020	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog A (Drosophila)"""	603125				9501187	Standard	NM_003596		Approved	TANGO13A	uc003tuw.3	O60507	OTTHUMG00000023871	ENST00000304842.5:c.916A>G	chr7.hg19:g.65751568A>G	ENSP00000302413:p.Ile306Val	56.0	0.0		92.0	8.0	NM_003596	A4D2M0|Q6FGM7	Missense_Mutation	SNP	ENST00000304842.5	hg19	CCDS5533.1	.	.	.	.	.	.	.	.	.	.	A	17.36	3.370232	0.61624	.	.	ENSG00000169902	ENST00000304842;ENST00000544114	T	0.45276	0.9	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.55033	0.1895	M	0.86740	2.835	0.80722	D	1	P;P	0.40834	0.73;0.467	B;B	0.43445	0.42;0.175	T	0.61108	-0.7129	10	0.42905	T	0.14	-21.5617	14.8826	0.70545	1.0:0.0:0.0:0.0	.	306;306	F5H7U7;O60507	.;TPST1_HUMAN	V	306	ENSP00000302413:I306V	ENSP00000302413:I306V	I	+	1	0	TPST1	65389003	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	8.266000	0.89871	2.123000	0.65237	0.383000	0.25322	ATA	.	.		0.413	TPST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251705.2	NM_003596	
UPK3B	80761	hgsc.bcm.edu	37	7	76142448	76142448	+	Intron	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:76142448C>A	ENST00000257632.5	+	3	754				UPK3B_ENST00000334348.3_Missense_Mutation_p.T170N|UPK3B_ENST00000448265.3_Intron|UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Missense_Mutation_p.T170N|UPK3B_ENST00000394849.1_Intron			Q9BT76	UPK3B_HUMAN	uroplakin 3B						negative regulation of gene expression (GO:0010629)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				AGGGCTGAGACCAAGTGGTCA	0.657																																					p.T170N		Atlas-SNP	.											.	UPK3B	15	.	0			c.C509A						.						61.0	44.0	50.0					7																	76142448		2203	4300	6503	SO:0001627	intron_variant	80761	exon4			CTGAGACCAAGTG	BC004304	CCDS5588.1, CCDS5589.1, CCDS64693.1	7q11.2	2003-07-29			ENSG00000243566	ENSG00000243566			21444	protein-coding gene	gene with protein product	"""uroplakin IIIb"""	611887				12446744	Standard	XM_005250612		Approved	MGC10902, p35, UPIIIb, FLJ32198	uc003ufq.3	Q9BT76	OTTHUMG00000149929	ENST00000257632.5:c.627-816C>A	chr7.hg19:g.76142448C>A		88.0	0.0		201.0	42.0	NM_182684	A6NHH5|A8K231|A8MZA8|B3KPU5|Q75MM5|Q86W06	Missense_Mutation	SNP	ENST00000257632.5	hg19	CCDS5588.1	.	.	.	.	.	.	.	.	.	.	.	16.59	3.164810	0.57476	.	.	ENSG00000243566	ENST00000334348;ENST00000443097	T;T	0.70869	-0.52;-0.52	5.21	5.21	0.72293	.	.	.	.	.	D	0.84215	0.5423	M	0.81802	2.56	0.36151	D	0.847449	D	0.89917	1.0	D	0.74674	0.984	D	0.89240	0.3583	9	0.87932	D	0	.	15.522	0.75874	0.0:1.0:0.0:0.0	.	170	A6NHH5	.	N	170	ENSP00000334938:T170N;ENSP00000444585:T170N	ENSP00000334938:T170N	T	+	2	0	UPK3B	75980384	0.630000	0.27155	0.997000	0.53966	0.169000	0.22640	0.953000	0.29162	2.436000	0.82500	0.563000	0.77884	ACC	.	.		0.657	UPK3B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000313978.2	NM_030570	
PHTF2	57157	hgsc.bcm.edu	37	7	77569480	77569480	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:77569480C>A	ENST00000248550.7	+	13	1677	c.1601C>A	c.(1600-1602)tCa>tAa	p.S534*	PHTF2_ENST00000416283.2_Nonsense_Mutation_p.S500*|PHTF2_ENST00000275575.7_Nonsense_Mutation_p.S496*|PHTF2_ENST00000424760.1_Nonsense_Mutation_p.S496*|PHTF2_ENST00000307305.8_Nonsense_Mutation_p.S496*|PHTF2_ENST00000422959.2_Nonsense_Mutation_p.S500*			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	534					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						CATTCTGCTTCAGAACTTTAT	0.373																																					p.S500X		Atlas-SNP	.											.	PHTF2	104	.	0			c.C1499A						.						126.0	116.0	119.0					7																	77569480		1862	4106	5968	SO:0001587	stop_gained	57157	exon12			CTGCTTCAGAACT	AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1601C>A	chr7.hg19:g.77569480C>A	ENSP00000248550:p.Ser534*	133.0	0.0		367.0	38.0	NM_001127357	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Nonsense_Mutation	SNP	ENST00000248550.7	hg19		.	.	.	.	.	.	.	.	.	.	C	38	6.899107	0.97920	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000424760;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.67	5.67	0.87782	.	0.344882	0.27482	N	0.019166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.3448	13.9903	0.64362	0.0:0.9275:0.0:0.0725	.	.	.	.	X	500;500;496;496;496;500;534	.	ENSP00000248550:S534X	S	+	2	0	PHTF2	77407416	0.990000	0.36364	0.995000	0.50966	0.969000	0.65631	1.485000	0.35519	2.665000	0.90641	0.557000	0.71058	TCA	.	.		0.373	PHTF2-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000340638.2	NM_020432	
PCLO	27445	hgsc.bcm.edu	37	7	82585390	82585390	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:82585390G>A	ENST00000333891.9	-	5	5216	c.4879C>T	c.(4879-4881)Cac>Tac	p.H1627Y	PCLO_ENST00000423517.2_Missense_Mutation_p.H1627Y	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCCATGAGTGACGTCTTCCT	0.403																																					p.H1627Y		Atlas-SNP	.											.	PCLO	1506	.	0			c.C4879T						.						318.0	305.0	310.0					7																	82585390		2067	4192	6259	SO:0001583	missense	27445	exon5			ATGAGTGACGTCT	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4879C>T	chr7.hg19:g.82585390G>A	ENSP00000334319:p.His1627Tyr	92.0	0.0		197.0	52.0	NM_014510		Missense_Mutation	SNP	ENST00000333891.9	hg19	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	11.96	1.793628	0.31685	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17054	2.3;2.3	5.15	5.15	0.70609	.	.	.	.	.	T	0.38983	0.1061	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.996	T	0.16482	-1.0401	9	0.87932	D	0	.	18.629	0.91352	0.0:0.0:1.0:0.0	.	1627;1627	Q9Y6V0-5;Q9Y6V0-6	.;.	Y	1558;1627;1627	ENSP00000334319:H1627Y;ENSP00000388393:H1627Y	ENSP00000334319:H1627Y	H	-	1	0	PCLO	82423326	1.000000	0.71417	0.928000	0.36995	0.975000	0.68041	6.805000	0.75191	2.400000	0.81607	0.655000	0.94253	CAC	.	.		0.403	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
SEMA3A	10371	hgsc.bcm.edu	37	7	83590805	83590805	+	Missense_Mutation	SNP	C	C	A	rs318240753		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:83590805C>A	ENST00000265362.4	-	17	2512	c.2198G>T	c.(2197-2199)cGt>cTt	p.R733L	SEMA3A_ENST00000436949.1_Missense_Mutation_p.R733L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	733	Arg/Lys-rich (basic).		R -> H (in HH16; phenotype consistent with Kallmann syndrome; dbSNP:rs318240753). {ECO:0000269|PubMed:22927827}.		apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CCTTTGCCGACGTTGTTTTCG	0.458																																					p.R733L		Atlas-SNP	.											.	SEMA3A	121	.	0			c.G2198T						.						222.0	197.0	206.0					7																	83590805		2203	4300	6503	SO:0001583	missense	10371	exon17			TGCCGACGTTGTT	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.2198G>T	chr7.hg19:g.83590805C>A	ENSP00000265362:p.Arg733Leu	148.0	0.0		385.0	21.0	NM_006080		Missense_Mutation	SNP	ENST00000265362.4	hg19	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.537539	0.45176	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.28255	1.62;1.62	6.08	6.08	0.98989	.	0.048367	0.85682	D	0.000000	T	0.23649	0.0572	N	0.13235	0.315	0.58432	D	0.999996	B	0.30563	0.285	B	0.28385	0.089	T	0.03739	-1.1008	10	0.44086	T	0.13	.	20.6634	0.99662	0.0:1.0:0.0:0.0	.	733	Q14563	SEM3A_HUMAN	L	733	ENSP00000265362:R733L;ENSP00000415260:R733L	ENSP00000265362:R733L	R	-	2	0	SEMA3A	83428741	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	4.589000	0.61006	2.894000	0.99253	0.655000	0.94253	CGT	.	.		0.458	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080	
PEG10	23089	hgsc.bcm.edu	37	7	94293700	94293700	+	Missense_Mutation	SNP	C	C	T	rs376581536		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:94293700C>T	ENST00000482108.1	+	2	1311	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	PEG10_ENST00000488574.1_Missense_Mutation_p.R278C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	278					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|placenta development (GO:0001890)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGGAGGTGCCCGCATGCGCCT	0.597																																					p.R354C		Atlas-SNP	.											.	PEG10	36	.	0			c.C1060T						.	C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	0,3974		0,0,1987	18.0	24.0	22.0		832,1060,1060,934,934,832	4.3	1.0	7		22	1,8303		0,1,4151	no	missense,missense,missense,missense,missense,missense	PEG10	NM_001040152.1,NM_001172437.1,NM_001172438.1,NM_001184961.1,NM_001184962.1,NM_015068.3	180,180,180,180,180,180	0,1,6138	TT,TC,CC		0.012,0.0,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	278/326,354/785,354/402,312/743,312/360,278/709	94293700	1,12277	1987	4152	6139	SO:0001583	missense	23089	exon2			GGTGCCCGCATGC	AB049834	CCDS55126.1, CCDS75636.1, CCDS75637.1	7q21	2007-12-07			ENSG00000242265	ENSG00000242265			14005	protein-coding gene	gene with protein product		609810				11318613, 15716091, 16093683	Standard	NM_001172437		Approved	KIAA1051, HB-1, MEF3L, RGAG3, Mar2, Mart2	uc011kie.2	Q86TG7	OTTHUMG00000155578	ENST00000482108.1:c.832C>T	chr7.hg19:g.94293700C>T	ENSP00000417587:p.Arg278Cys	20.0	0.0		112.0	7.0	NM_001172438	Q96A68|Q9UPV1	Missense_Mutation	SNP	ENST00000482108.1	hg19	CCDS55126.1	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927626	0.73327	0.0	1.2E-4	ENSG00000242265	ENST00000482108;ENST00000488574	T;T	0.15139	2.45;2.45	4.34	4.34	0.51931	.	.	.	.	.	T	0.29652	0.0740	L	0.34521	1.04	0.40084	D	0.976172	D;D	0.89917	1.0;1.0	D;D	0.69654	0.965;0.948	T	0.03619	-1.1019	9	0.56958	D	0.05	.	14.7868	0.69810	0.0:1.0:0.0:0.0	.	354;278	B4DSP0;Q86TG7	.;PEG10_HUMAN	C	278	ENSP00000417587:R278C;ENSP00000418944:R278C	ENSP00000417587:R278C	R	+	1	0	PEG10	94131636	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.330000	0.43885	2.429000	0.82318	0.555000	0.69702	CGC	.	.		0.597	PEG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340751.1	NM_015068	
MCM7	4176	hgsc.bcm.edu	37	7	99693701	99693701	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:99693701C>A	ENST00000303887.5	-	11	1936	c.1291G>T	c.(1291-1293)Ggt>Tgt	p.G431C	MIR25_ENST00000384816.1_RNA|MCM7_ENST00000343023.6_Intron|MIR93_ENST00000385024.1_RNA|MIR106B_ENST00000385301.1_RNA|MCM7_ENST00000354230.3_Missense_Mutation_p.G255C	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	431	MCM.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGGCCCCACCCTCTAAGGTC	0.607																																					p.G431C		Atlas-SNP	.											.	MCM7	136	.	0			c.G1291T						.						57.0	54.0	55.0					7																	99693701		2203	4300	6503	SO:0001583	missense	4176	exon11			CCCCACCCTCTAA		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.1291G>T	chr7.hg19:g.99693701C>A	ENSP00000307288:p.Gly431Cys	25.0	0.0		160.0	11.0	NM_005916	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	hg19	CCDS5683.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254289	0.80135	.	.	ENSG00000166508	ENST00000303887;ENST00000542483;ENST00000362082;ENST00000354230	T;T	0.11495	2.77;2.77	5.02	4.13	0.48395	ATPase, AAA+ type, core (1);	0.109029	0.64402	D	0.000007	T	0.48909	0.1526	H	0.98370	4.215	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.67821	-0.5571	10	0.87932	D	0	-23.2828	12.4978	0.55937	0.1682:0.8318:0.0:0.0	.	431	P33993	MCM7_HUMAN	C	431;368;324;255	ENSP00000307288:G431C;ENSP00000346171:G255C	ENSP00000307288:G431C	G	-	1	0	MCM7	99531637	1.000000	0.71417	0.988000	0.46212	0.914000	0.54420	7.604000	0.82830	1.302000	0.44855	0.655000	0.94253	GGT	.	.		0.607	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
MCM7	4176	hgsc.bcm.edu	37	7	99697309	99697309	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:99697309G>C	ENST00000303887.5	-	3	824	c.179C>G	c.(178-180)cCc>cGc	p.P60R	AP4M1_ENST00000422582.1_5'Flank|AP4M1_ENST00000429084.1_5'Flank|AP4M1_ENST00000359593.4_5'Flank|MCM7_ENST00000343023.6_Missense_Mutation_p.P60R|AP4M1_ENST00000421755.1_5'Flank|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	60					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to epidermal growth factor stimulus (GO:0071364)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|regulation of phosphorylation (GO:0042325)|response to drug (GO:0042493)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACCAACTCGGGGTCATCCTC	0.562																																					p.P60R		Atlas-SNP	.											.	MCM7	136	.	0			c.C179G						.						132.0	124.0	126.0					7																	99697309		2203	4300	6503	SO:0001583	missense	4176	exon3			AACTCGGGGTCAT		CCDS5683.1, CCDS5684.1	7q21.3-q22.1	2014-06-12	2007-04-04		ENSG00000166508	ENSG00000166508			6950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 104"""	600592	"""minichromosome maintenance deficient (S. cerevisiae) 7"", ""MCM7 minichromosome maintenance deficient 7 (S. cerevisiae)"""	MCM2		7842741	Standard	NM_005916		Approved	CDC47, PPP1R104	uc003usw.1	P33993	OTTHUMG00000154671	ENST00000303887.5:c.179C>G	chr7.hg19:g.99697309G>C	ENSP00000307288:p.Pro60Arg	17.0	0.0		93.0	13.0	NM_005916	A4D2A1|A4D2A2|E9PGN9|Q15076|Q96D34|Q96GL1	Missense_Mutation	SNP	ENST00000303887.5	hg19	CCDS5683.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.31|13.31	2.197802|2.197802	0.38806|0.38806	.|.	.|.	ENSG00000166508|ENSG00000166508	ENST00000542483|ENST00000343023;ENST00000303887	.|T;T	.|0.10763	.|2.84;2.84	4.5|4.5	4.5|4.5	0.54988|0.54988	.|Nucleic acid-binding, OB-fold-like (1);	0.199666|0.199666	0.41823|0.41823	D|D	0.000812|0.000812	T|T	0.10337|0.10337	0.0253|0.0253	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|B	.|0.29862	.|0.259	.|B	.|0.30029	.|0.11	T|T	0.18241|0.18241	-1.0343|-1.0343	7|10	0.87932|0.28530	D|T	0|0.3	.|.	14.7626|14.7626	0.69617|0.69617	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|60	.|P33993	.|MCM7_HUMAN	A|R	3|60	.|ENSP00000344006:P60R;ENSP00000307288:P60R	ENSP00000445904:P18A|ENSP00000307288:P60R	P|P	-|-	1|2	0|0	MCM7|MCM7	99535245|99535245	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	7.148000|7.148000	0.77389|0.77389	2.314000|2.314000	0.78098|0.78098	0.557000|0.557000	0.71058|0.71058	CCG|CCC	.	.		0.562	MCM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336534.3		
PVRIG	79037	hgsc.bcm.edu	37	7	99818613	99818613	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:99818613C>A	ENST00000317271.2	+	6	1083	c.720C>A	c.(718-720)tgC>tgA	p.C240*	AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	240						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACACCAGCTGCCGCCCAGCTA	0.677																																					p.C240X		Atlas-SNP	.											.	PVRIG	20	.	0			c.C720A						.						65.0	70.0	68.0					7																	99818613		2203	4300	6503	SO:0001587	stop_gained	79037	exon6			CAGCTGCCGCCCA	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.720C>A	chr7.hg19:g.99818613C>A	ENSP00000316675:p.Cys240*	66.0	0.0		173.0	14.0	NM_024070	D6W5U9|Q9BVK3	Nonsense_Mutation	SNP	ENST00000317271.2	hg19	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	c	26.9	4.780649	0.90195	.	.	ENSG00000213413	ENST00000317271	.	.	.	3.01	3.01	0.34805	.	.	.	.	.	.	.	.	.	.	.	0.35377	D	0.789556	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	.	9.7879	0.40688	0.0:1.0:0.0:0.0	.	.	.	.	X	240	.	ENSP00000316675:C240X	C	+	3	2	PVRIG	99656549	0.001000	0.12720	0.004000	0.12327	0.149000	0.21700	0.819000	0.27308	2.010000	0.58986	0.505000	0.49811	TGC	.	.		0.677	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070	
GNB2	2783	hgsc.bcm.edu	37	7	100274386	100274386	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:100274386C>A	ENST00000303210.4	+	4	649	c.167C>A	c.(166-168)gCa>gAa	p.A56E	GNB2_ENST00000436220.1_Missense_Mutation_p.A12E|GNB2_ENST00000427895.1_Intron|GNB2_ENST00000419828.1_Intron|GNB2_ENST00000424361.1_Missense_Mutation_p.A12E|GNB2_ENST00000393924.1_Missense_Mutation_p.A56E|GNB2_ENST00000393926.1_Missense_Mutation_p.A56E	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	56					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	calcium channel regulator activity (GO:0005246)|GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GGGCACCTGGCAAAGATCTAT	0.637																																					p.A56E		Atlas-SNP	.											.	GNB2	29	.	0			c.C167A						.						70.0	35.0	46.0					7																	100274386		2200	4299	6499	SO:0001583	missense	2783	exon4			ACCTGGCAAAGAT	M16514	CCDS5703.1	7q21.3-q22.1	2013-01-10			ENSG00000172354	ENSG00000172354		"""WD repeat domain containing"""	4398	protein-coding gene	gene with protein product	"""G protein, beta-2 subunit"", ""guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2"", ""signal-transducing guanine nucleotide-binding regulatory protein beta subunit"", ""transducin beta chain 2"""	139390				9799793	Standard	NM_005273		Approved		uc003uwb.3	P62879	OTTHUMG00000137419	ENST00000303210.4:c.167C>A	chr7.hg19:g.100274386C>A	ENSP00000305260:p.Ala56Glu	28.0	0.0		78.0	23.0	NM_005273	B3KPU1|P11016|P54312	Missense_Mutation	SNP	ENST00000303210.4	hg19	CCDS5703.1	.	.	.	.	.	.	.	.	.	.	.	27.1	4.795965	0.90453	.	.	ENSG00000172354	ENST00000303210;ENST00000451587;ENST00000436220;ENST00000424361;ENST00000393926;ENST00000431068;ENST00000412215;ENST00000393924	T;T;T;T;T;T;T;T	0.80824	5.06;5.06;-1.42;-1.42;5.06;5.06;5.06;5.06	4.96	4.08	0.47627	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);G-protein, beta subunit (1);	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	N	0.20483	0.58	0.58432	D	0.999998	P	0.52061	0.95	P	0.61592	0.891	T	0.81304	-0.0993	10	0.72032	D	0.01	-1.2442	10.9761	0.47467	0.0:0.9091:0.0:0.0909	.	56	P62879	GBB2_HUMAN	E	56;56;12;12;56;56;56;56	ENSP00000305260:A56E;ENSP00000399904:A56E;ENSP00000401873:A12E;ENSP00000389391:A12E;ENSP00000377503:A56E;ENSP00000390077:A56E;ENSP00000413219:A56E;ENSP00000377501:A56E	ENSP00000305260:A56E	A	+	2	0	GNB2	100112322	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.651000	0.83577	1.303000	0.44873	0.561000	0.74099	GCA	.	.		0.637	GNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268391.2	NM_005273	
SLC12A9	56996	hgsc.bcm.edu	37	7	100452001	100452001	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:100452001G>T	ENST00000354161.3	+	2	306		c.e2+1		SLC12A9_ENST00000540482.1_Splice_Site|SLC12A9_ENST00000415287.1_Splice_Site|RP11-126L15.4_ENST00000412754.1_RNA|SLC12A9_ENST00000275729.3_Splice_Site|SLC12A9_ENST00000428758.1_Splice_Site	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTGAGGATTGGTGAGTGGGTC	0.577																																					.		Atlas-SNP	.											.	SLC12A9	81	.	0			c.181+1G>T						.						120.0	119.0	120.0					7																	100452001		2203	4300	6503	SO:0001630	splice_region_variant	56996	exon2			GGATTGGTGAGTG	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.181+1G>T	chr7.hg19:g.100452001G>T		145.0	0.0		395.0	18.0	NM_020246	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Splice_Site	SNP	ENST00000354161.3	hg19	CCDS5707.1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.655266	0.67472	.	.	ENSG00000146828	ENST00000540482;ENST00000428758;ENST00000275729;ENST00000415287;ENST00000354161;ENST00000416675;ENST00000434158	.	.	.	4.53	4.53	0.55603	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7812	0.69769	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC12A9	100289937	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.406000	0.80017	2.340000	0.79590	0.407000	0.27541	.	.	.		0.577	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246	Intron
RELN	5649	hgsc.bcm.edu	37	7	103276844	103276844	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:103276844C>T	ENST00000428762.1	-	18	2300	c.2141G>A	c.(2140-2142)aGc>aAc	p.S714N	RELN_ENST00000424685.2_Missense_Mutation_p.S714N|RELN_ENST00000343529.5_Missense_Mutation_p.S714N	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	714					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGCCAAAGCTTTCAGAAAT	0.458																																					p.S714N	NSCLC(146;835 1944 15585 22231 52158)	Atlas-SNP	.											.	RELN	593	.	0			c.G2141A						.						60.0	62.0	61.0					7																	103276844		2203	4300	6503	SO:0001583	missense	5649	exon18			CCAAAGCTTTCAG		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.2141G>A	chr7.hg19:g.103276844C>T	ENSP00000392423:p.Ser714Asn	73.0	0.0		220.0	10.0	NM_173054	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	ENST00000428762.1	hg19	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436206	0.43224	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.22945	1.93;1.93;1.93	5.76	5.76	0.90799	.	0.043835	0.85682	D	0.000000	T	0.30541	0.0768	N	0.12182	0.205	0.50632	D	0.999887	D;D	0.60160	0.96;0.987	P;D	0.63381	0.577;0.914	T	0.07424	-1.0773	10	0.11485	T	0.65	.	19.9658	0.97266	0.0:1.0:0.0:0.0	.	714;714	P78509-2;P78509	.;RELN_HUMAN	N	714	ENSP00000392423:S714N;ENSP00000345694:S714N;ENSP00000388446:S714N	ENSP00000345694:S714N	S	-	2	0	RELN	103064080	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.295000	0.78780	2.721000	0.93114	0.591000	0.81541	AGC	.	.		0.458	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
PNPLA8	50640	hgsc.bcm.edu	37	7	108155899	108155899	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:108155899G>A	ENST00000422087.1	-	4	443	c.37C>T	c.(37-39)Ctc>Ttc	p.L13F	PNPLA8_ENST00000453144.1_Intron|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L13F|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L13F|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L13F|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L13F|PNPLA8_ENST00000483879.1_Intron	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	13					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTACTAAGGAGGTAAATATAT	0.338																																					p.L13F		Atlas-SNP	.											.	PNPLA8	82	.	0			c.C37T						.						60.0	56.0	58.0					7																	108155899		2202	4300	6502	SO:0001583	missense	50640	exon2			TAAGGAGGTAAAT	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.37C>T	chr7.hg19:g.108155899G>A	ENSP00000410804:p.Leu13Phe	48.0	0.0		119.0	8.0	NM_001256008	A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	hg19	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	G	9.319	1.057455	0.19907	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000436062;ENST00000427008;ENST00000415498	D;D;D;D;D	0.98493	-3.77;-4.96;-3.77;-4.96;-4.96	5.26	2.4	0.29515	.	0.649498	0.14456	N	0.318482	D	0.94676	0.8283	L	0.46157	1.445	0.25488	N	0.987675	B	0.11235	0.004	B	0.09377	0.004	D	0.85450	0.1160	10	0.12430	T	0.62	.	4.4129	0.11441	0.4079:0.0:0.4435:0.1486	.	13	Q9NP80	PLPL8_HUMAN	F	13	ENSP00000394988:L13F;ENSP00000257694:L13F;ENSP00000373380:L13F;ENSP00000410804:L13F;ENSP00000406779:L13F	ENSP00000257694:L13F	L	-	1	0	PNPLA8	107943135	0.993000	0.37304	1.000000	0.80357	0.977000	0.68977	0.170000	0.16663	0.565000	0.29255	0.460000	0.39030	CTC	.	.		0.338	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723	
KCND2	3751	hgsc.bcm.edu	37	7	119914945	119914945	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:119914945C>A	ENST00000331113.4	+	1	1224	c.259C>A	c.(259-261)Cgt>Agt	p.R87S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1. {ECO:0000250}.				action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TTTCTTTGACCGTGACCCAGA	0.527																																					p.R87S		Atlas-SNP	.											.	KCND2	194	.	0			c.C259A						.						134.0	137.0	136.0					7																	119914945		2203	4300	6503	SO:0001583	missense	3751	exon1			TTTGACCGTGACC	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.259C>A	chr7.hg19:g.119914945C>A	ENSP00000333496:p.Arg87Ser	48.0	0.0		138.0	11.0	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	hg19	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.049908	0.75846	.	.	ENSG00000184408	ENST00000331113	D	0.90133	-2.62	5.51	5.51	0.81932	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97235	0.9096	H	0.98646	4.29	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.98281	1.0508	9	.	.	.	.	14.2875	0.66256	0.1486:0.8514:0.0:0.0	.	87	Q9NZV8	KCND2_HUMAN	S	87	ENSP00000333496:R87S	.	R	+	1	0	KCND2	119702181	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.930000	0.70104	2.603000	0.88011	0.655000	0.94253	CGT	.	.		0.527	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
KCND2	3751	hgsc.bcm.edu	37	7	119915059	119915059	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:119915059A>G	ENST00000331113.4	+	1	1338	c.373A>G	c.(373-375)Atc>Gtc	p.I125V		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	125					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CTTTGGCCTCATCCCGGAAAT	0.577																																					p.I125V		Atlas-SNP	.											KCND2,NS,carcinoma,0,1	KCND2	194	.	0			c.A373G						.						132.0	134.0	133.0					7																	119915059		2203	4300	6503	SO:0001583	missense	3751	exon1			GGCCTCATCCCGG	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.373A>G	chr7.hg19:g.119915059A>G	ENSP00000333496:p.Ile125Val	34.0	0.0		128.0	17.0	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	hg19	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	A	8.909	0.958135	0.18507	.	.	ENSG00000184408	ENST00000331113	T	0.75821	-0.97	5.71	5.71	0.89125	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.55481	0.1923	N	0.05574	-0.02	0.49299	D	0.999776	B	0.02656	0.0	B	0.04013	0.001	T	0.52939	-0.8508	9	.	.	.	.	15.9958	0.80243	1.0:0.0:0.0:0.0	.	125	Q9NZV8	KCND2_HUMAN	V	125	ENSP00000333496:I125V	.	I	+	1	0	KCND2	119702295	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.512000	0.53407	2.188000	0.69820	0.533000	0.62120	ATC	.	.		0.577	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
PTPRZ1	5803	hgsc.bcm.edu	37	7	121684477	121684477	+	Splice_Site	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:121684477A>G	ENST00000393386.2	+	23	6350	c.5939A>G	c.(5938-5940)gAg>gGg	p.E1980G	PTPRZ1_ENST00000449182.1_Splice_Site_p.E1113G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1980	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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						TTTTGCCAGGAGCAATATGTC	0.383																																					p.E1980G		Atlas-SNP	.											.	PTPRZ1	605	.	0			c.A5939G						.						183.0	169.0	174.0					7																	121684477		2203	4300	6503	SO:0001630	splice_region_variant	5803	exon23			GCCAGGAGCAATA	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.5938-1A>G	chr7.hg19:g.121684477A>G		135.0	0.0		373.0	183.0	NM_002851	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	hg19	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.584806	0.86748	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	D;D	0.85013	-1.93;-1.93	5.65	5.65	0.86999	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	D	0.000003	D	0.92264	0.7546	M	0.77313	2.365	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.999;0.993;1.0	D	0.93199	0.6590	10	0.87932	D	0	.	15.8828	0.79216	1.0:0.0:0.0:0.0	.	1119;1113;1980	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	G	1980;1113	ENSP00000377047:E1980G;ENSP00000410000:E1113G	ENSP00000377047:E1980G	E	+	2	0	PTPRZ1	121471713	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	9.339000	0.96797	2.152000	0.67230	0.533000	0.62120	GAG	.	.		0.383	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851	Missense_Mutation
CCDC136	64753	hgsc.bcm.edu	37	7	128449544	128449544	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:128449544A>T	ENST00000297788.4	+	11	2013	c.1646A>T	c.(1645-1647)aAg>aTg	p.K549M	CCDC136_ENST00000378685.4_Intron|CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	549						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TTGCAGGAAAAGTACAAGGCC	0.587																																					p.K549M		Atlas-SNP	.											.	CCDC136	170	.	0			c.A1646T						.						21.0	24.0	23.0					7																	128449544		2027	4107	6134	SO:0001583	missense	64753	exon11			AGGAAAAGTACAA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.1646A>T	chr7.hg19:g.128449544A>T	ENSP00000297788:p.Lys549Met	110.0	0.0		528.0	25.0	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	hg19	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.61|18.61	3.660929|3.660929	0.67700|0.67700	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T;T|.	0.35789|.	1.29;1.29|.	5.95|5.95	2.06|2.06	0.26882|0.26882	.|.	0.737577|.	0.12983|.	N|.	0.423081|.	T|T	0.24314|0.24314	0.0589|0.0589	L|L	0.34521|0.34521	1.04|1.04	0.20703|0.20703	N|N	0.999869|0.999869	B;B|.	0.33171|.	0.206;0.4|.	B;B|.	0.30855|.	0.085;0.121|.	T|T	0.21484|0.21484	-1.0244|-1.0244	10|5	0.62326|.	D|.	0.03|.	-19.2775|-19.2775	1.5329|1.5329	0.02539|0.02539	0.5498:0.1492:0.0917:0.2092|0.5498:0.1492:0.0917:0.2092	.|.	549;549|.	Q96JN2-2;Q96JN2|.	.;CC136_HUMAN|.	M|C	549;549;549;140|426	ENSP00000297788:K549M;ENSP00000417991:K140M|.	ENSP00000297788:K549M|.	K|S	+|+	2|1	0|0	CCDC136|CCDC136	128236780|128236780	0.332000|0.332000	0.24722|0.24722	0.785000|0.785000	0.31869|0.31869	0.968000|0.968000	0.65278|0.65278	0.640000|0.640000	0.24705|0.24705	0.499000|0.499000	0.27970|0.27970	0.533000|0.533000	0.62120|0.62120	AAG|AGT	.	.		0.587	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
AGBL3	340351	hgsc.bcm.edu	37	7	134717660	134717660	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:134717660G>A	ENST00000436302.2	+	6	737	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	AGBL3_ENST00000458078.1_Missense_Mutation_p.V136M|AGBL3_ENST00000435976.2_Missense_Mutation_p.V162M	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	162						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						GAAGCAGCCTGTGGATTACCG	0.398																																					p.V162M		Atlas-SNP	.											.	AGBL3	45	.	0			c.G484A						.						143.0	133.0	136.0					7																	134717660		692	1591	2283	SO:0001583	missense	340351	exon6			CAGCCTGTGGATT	BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.484G>A	chr7.hg19:g.134717660G>A	ENSP00000388275:p.Val162Met	69.0	0.0		198.0	17.0	NM_178563	B7Z827|Q9H965	Missense_Mutation	SNP	ENST00000436302.2	hg19	CCDS47718.1	.	.	.	.	.	.	.	.	.	.	G	5.466	0.271005	0.10349	.	.	ENSG00000146856	ENST00000436302;ENST00000458078;ENST00000435976	T;T;T	0.43688	0.94;0.94;0.94	5.16	0.0744	0.14395	.	0.175957	0.27535	N	0.018921	T	0.19725	0.0474	N	0.19112	0.55	0.09310	N	1	B	0.21821	0.061	B	0.19666	0.026	T	0.07083	-1.0791	10	0.28530	T	0.3	-1.0515	1.7495	0.02969	0.2426:0.104:0.4553:0.1981	.	162	Q8NEM8-4	.	M	162;136;162	ENSP00000388275:V162M;ENSP00000395969:V136M;ENSP00000401220:V162M	ENSP00000275763:V162M	V	+	1	0	AGBL3	134368200	0.000000	0.05858	0.772000	0.31596	0.366000	0.29705	0.030000	0.13688	0.086000	0.17137	-0.691000	0.03719	GTG	.	.		0.398	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376655.1	NM_178563	
CNOT4	4850	hgsc.bcm.edu	37	7	135047915	135047915	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:135047915T>C	ENST00000451834.1	-	12	2138	c.1855A>G	c.(1855-1857)Agt>Ggt	p.S619G	CNOT4_ENST00000361528.4_Missense_Mutation_p.S548G|CNOT4_ENST00000541284.1_Missense_Mutation_p.S622G|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Missense_Mutation_p.S551G			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GAGTCTAAACTGTTTCCTGAA	0.453																																					p.S622G	Ovarian(51;766 1130 5502 35047 50875)	Atlas-SNP	.											.	CNOT4	146	.	0			c.A1864G						.						118.0	120.0	119.0					7																	135047915		1925	4142	6067	SO:0001583	missense	4850	exon12			CTAAACTGTTTCC	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1855A>G	chr7.hg19:g.135047915T>C	ENSP00000388491:p.Ser619Gly	40.0	0.0		90.0	60.0	NM_001190850	B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000451834.1	hg19	CCDS55167.1	.	.	.	.	.	.	.	.	.	.	T	12.05	1.822152	0.32237	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528	T;T;T;T	0.58060	0.69;0.69;0.37;0.36	5.85	5.85	0.93711	.	0.112857	0.85682	D	0.000000	T	0.32763	0.0840	N	0.17082	0.46	0.80722	D	1	B;B;B;B	0.10296	0.0;0.001;0.0;0.003	B;B;B;B	0.13407	0.0;0.0;0.0;0.009	T	0.19353	-1.0308	10	0.09084	T	0.74	-2.5711	10.5619	0.45150	0.0:0.0715:0.0:0.9284	.	619;622;551;548	E7ET38;F8VQP3;O95628-4;O95628-8	.;.;.;.	G	622;619;551;622;548	ENSP00000445508:S622G;ENSP00000388491:S619G;ENSP00000406777:S551G;ENSP00000354673:S548G	ENSP00000262563:S622G	S	-	1	0	CNOT4	134698455	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.849000	0.62882	2.233000	0.73108	0.455000	0.32223	AGT	.	.		0.453	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316	
CLCN1	1180	hgsc.bcm.edu	37	7	143039472	143039472	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:143039472A>G	ENST00000343257.2	+	16	1891	c.1804A>G	c.(1804-1806)Acc>Gcc	p.T602A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	602					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TAGCAAATATACCATCTTTGT	0.463																																					p.T602A		Atlas-SNP	.											.	CLCN1	141	.	0			c.A1804G						.						147.0	114.0	125.0					7																	143039472		2203	4300	6503	SO:0001583	missense	1180	exon16			AAATATACCATCT	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1804A>G	chr7.hg19:g.143039472A>G	ENSP00000339867:p.Thr602Ala	74.0	0.0		210.0	10.0	NM_000083	A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	hg19	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	A	18.86	3.714293	0.68730	.	.	ENSG00000188037	ENST00000343257	D	0.87966	-2.32	5.82	5.82	0.92795	.	0.147273	0.64402	D	0.000020	T	0.81688	0.4875	N	0.24115	0.695	0.50171	D	0.999857	P	0.42296	0.775	B	0.42851	0.4	T	0.80632	-0.1296	10	0.27082	T	0.32	.	16.1771	0.81858	1.0:0.0:0.0:0.0	.	602	P35523	CLCN1_HUMAN	A	602	ENSP00000339867:T602A	ENSP00000339867:T602A	T	+	1	0	CLCN1	142749594	1.000000	0.71417	0.994000	0.49952	0.883000	0.51084	9.331000	0.96430	2.225000	0.72522	0.523000	0.50628	ACC	.	.		0.463	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083	
CHPF2	54480	hgsc.bcm.edu	37	7	150934562	150934562	+	Missense_Mutation	SNP	G	G	A	rs139379425	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:150934562G>A	ENST00000035307.2	+	4	2627	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M	MIR671_ENST00000390183.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.V364M|RP4-548D19.3_ENST00000607902.1_RNA	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	372					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCGCTTTGAGGTGCTGGGCTG	0.637																																					p.V372M		Atlas-SNP	.											.	CHPF2	52	.	0			c.G1114A						.						81.0	81.0	81.0					7																	150934562		2203	4300	6503	SO:0001583	missense	54480	exon4			TTTGAGGTGCTGG	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1114G>A	chr7.hg19:g.150934562G>A	ENSP00000035307:p.Val372Met	44.0	0.0		159.0	9.0	NM_019015	B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	hg19	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025532	0.75390	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.25579	1.79;1.79	5.63	5.63	0.86233	.	0.058009	0.64402	D	0.000002	T	0.49047	0.1534	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.81914	0.995;0.925	T	0.45381	-0.9265	10	0.62326	D	0.03	-22.7659	14.3202	0.66482	0.0:0.1479:0.8521:0.0	.	372;364	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	M	364;372;372	ENSP00000418914:V364M;ENSP00000035307:V372M	ENSP00000035307:V372M	V	+	1	0	CHPF2	150565495	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.884000	0.87274	2.652000	0.90054	0.655000	0.94253	GTG	.	G|1.000;T|0.000		0.637	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015	
DLGAP2	9228	hgsc.bcm.edu	37	8	1616828	1616828	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:1616828C>T	ENST00000421627.2	+	6	2038	c.1904C>T	c.(1903-1905)tCc>tTc	p.S635F		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	714					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGCCGCTGCTCCTCCATCGGG	0.637																																					p.S635F		Atlas-SNP	.											DLGAP2_ENST00000356067,NS,carcinoma,0,2	DLGAP2	292	.	0			c.C1904T						.						15.0	20.0	19.0					8																	1616828		2033	4168	6201	SO:0001583	missense	9228	exon6			GCTGCTCCTCCAT	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.1904C>T	chr8.hg19:g.1616828C>T	ENSP00000400258:p.Ser635Phe	23.0	0.0		49.0	2.0	NM_004745	A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	ENST00000421627.2	hg19	CCDS47760.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.90|16.90	3.250705|3.250705	0.59212|0.59212	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000520901|ENST00000356067;ENST00000421627	.|T	.|0.19532	.|2.14	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	.|0.198058	.|0.56097	.|D	.|0.000033	T|T	0.44095|0.44095	0.1277|0.1277	M|M	0.80422|0.80422	2.495|2.495	0.41790|0.41790	D|D	0.989869|0.989869	.|P;P	.|0.45986	.|0.842;0.87	.|P;P	.|0.52672	.|0.581;0.706	T|T	0.29761|0.29761	-1.0001|-1.0001	5|10	.|0.39692	.|T	.|0.17	-12.2698|-12.2698	19.557|19.557	0.95354|0.95354	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|714;714	.|Q9P1A6-2;Q9P1A6	.|.;DLGP2_HUMAN	S|F	652|680;635	.|ENSP00000400258:S635F	.|ENSP00000348366:S680F	P|S	+|+	1|2	0|0	DLGAP2|DLGAP2	1604235|1604235	1.000000|1.000000	0.71417|0.71417	0.867000|0.867000	0.34043|0.34043	0.727000|0.727000	0.41649|0.41649	5.698000|5.698000	0.68302|0.68302	2.609000|2.609000	0.88269|0.88269	0.650000|0.650000	0.86243|0.86243	CCT|TCC	.	.		0.637	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374478.1	NM_004745	
RP1L1	94137	hgsc.bcm.edu	37	8	10470139	10470139	+	Missense_Mutation	SNP	C	C	A	rs578108515		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:10470139C>A	ENST00000382483.3	-	4	1692	c.1469G>T	c.(1468-1470)gGg>gTg	p.G490V		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	490					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCGCTCAGCCCCTATCTGGGC	0.711																																					p.G490V		Atlas-SNP	.											RP1L1,bladder,carcinoma,-1,1	RP1L1	453	.	0			c.G1469T						.						27.0	31.0	29.0					8																	10470139		1911	4119	6030	SO:0001583	missense	94137	exon4			TCAGCCCCTATCT	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1469G>T	chr8.hg19:g.10470139C>A	ENSP00000371923:p.Gly490Val	30.0	0.0		30.0	5.0	NM_178857	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	hg19	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822299	0.32237	.	.	ENSG00000183638	ENST00000382483	T	0.04015	3.73	4.41	-2.38	0.06622	.	1.713650	0.04054	U	0.305219	T	0.04003	0.0112	L	0.27053	0.805	0.09310	N	1	P	0.38827	0.649	B	0.36186	0.219	T	0.37033	-0.9723	10	0.72032	D	0.01	2.6844	5.0251	0.14381	0.1409:0.4006:0.0:0.4585	.	490	A6NKC6	.	V	490	ENSP00000371923:G490V	ENSP00000371923:G490V	G	-	2	0	RP1L1	10507549	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	0.099000	0.15210	-0.466000	0.06943	0.561000	0.74099	GGG	.	.		0.711	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1		
FGF20	26281	hgsc.bcm.edu	37	8	16853235	16853235	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:16853235G>T	ENST00000180166.5	-	2	467	c.319C>A	c.(319-321)Ctg>Atg	p.L107M		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	107					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATACTGACCAGTCCCACTGCC	0.338																																					p.L107M		Atlas-SNP	.											.	FGF20	16	.	0			c.C319A						.						113.0	107.0	109.0					8																	16853235		2203	4300	6503	SO:0001583	missense	26281	exon2			TGACCAGTCCCAC	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.319C>A	chr8.hg19:g.16853235G>T	ENSP00000180166:p.Leu107Met	69.0	0.0		97.0	21.0	NM_019851	B2RPH5	Missense_Mutation	SNP	ENST00000180166.5	hg19	CCDS5998.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.97|17.97	3.518782|3.518782	0.64634|0.64634	.|.	.|.	ENSG00000078579|ENSG00000078579	ENST00000180166|ENST00000381981	T|.	0.68479|.	-0.33|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.67088|0.67088	0.2856|0.2856	L|L	0.58302|0.58302	1.8|1.8	0.58432|0.58432	D|D	0.999998|0.999998	B|.	0.32693|.	0.38|.	B|.	0.39971|.	0.315|.	T|T	0.68511|0.68511	-0.5389|-0.5389	10|6	0.66056|0.87932	D|D	0.02|0	.|.	13.4923|13.4923	0.61402|0.61402	0.0714:0.0:0.9286:0.0|0.0714:0.0:0.9286:0.0	.|.	107|.	Q9NP95|.	FGF20_HUMAN|.	M|N	107|75	ENSP00000180166:L107M|.	ENSP00000180166:L107M|ENSP00000371411:T75N	L|T	-|-	1|2	2|0	FGF20|FGF20	16897606|16897606	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	3.808000|3.808000	0.55598|0.55598	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	CTG|ACT	.	.		0.338	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1		
MTMR7	9108	hgsc.bcm.edu	37	8	17198903	17198903	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:17198903T>C	ENST00000180173.5	-	6	735	c.701A>G	c.(700-702)gAc>gGc	p.D234G	MTMR7_ENST00000521857.1_Missense_Mutation_p.D234G|MTMR7_ENST00000523571.1_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	234	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.				inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ATAAACGAAGTCACTTCCTGG	0.557																																					p.D234G		Atlas-SNP	.											.	MTMR7	75	.	0			c.A701G						.						177.0	110.0	133.0					8																	17198903		2203	4300	6503	SO:0001583	missense	9108	exon6			ACGAAGTCACTTC	AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.701A>G	chr8.hg19:g.17198903T>C	ENSP00000180173:p.Asp234Gly	46.0	0.0		73.0	8.0	NM_004686	A1L4K9|B4DG87|Q68DX4	Missense_Mutation	SNP	ENST00000180173.5	hg19	CCDS34851.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191393	0.38707	.	.	ENSG00000003987	ENST00000180173;ENST00000521857	D;D	0.90197	-2.63;-2.63	4.94	3.78	0.43462	Myotubularin phosphatase domain (1);Myotubularin-related (1);	0.220883	0.49916	N	0.000131	D	0.83801	0.5333	L	0.29908	0.895	0.80722	D	1	P;B	0.35139	0.486;0.01	B;B	0.35550	0.205;0.02	T	0.80176	-0.1491	10	0.33940	T	0.23	.	10.9107	0.47108	0.0:0.0741:0.0:0.9259	.	234;234	Q9Y216-2;Q9Y216	.;MTMR7_HUMAN	G	234	ENSP00000180173:D234G;ENSP00000429733:D234G	ENSP00000180173:D234G	D	-	2	0	MTMR7	17243274	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	3.252000	0.51461	1.017000	0.39495	0.460000	0.39030	GAC	.	.		0.557	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375311.1	NM_004686	
PPP2CB	5516	hgsc.bcm.edu	37	8	30643819	30643819	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:30643819G>A	ENST00000221138.4	-	7	1312	c.862C>T	c.(862-864)Caa>Taa	p.Q288*	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	288					apoptotic mitochondrial changes (GO:0008637)|fibroblast growth factor receptor signaling pathway (GO:0008543)|negative regulation of Ras protein signal transduction (GO:0046580)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|regulation of gene expression (GO:0010468)|response to antibiotic (GO:0046677)|response to endoplasmic reticulum stress (GO:0034976)|response to hydrogen peroxide (GO:0042542)	chromosome, centromeric region (GO:0000775)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	GGGTCAAATTGAAGGCTGTAA	0.438																																					p.Q288X		Atlas-SNP	.											.	PPP2CB	27	.	0			c.C862T						.						44.0	43.0	43.0					8																	30643819		2199	4297	6496	SO:0001587	stop_gained	5516	exon7			CAAATTGAAGGCT		CCDS6079.1	8p12	2011-05-24	2010-03-05		ENSG00000104695	ENSG00000104695	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9300	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, beta isoform"""	176916	"""protein phosphatase 2 (formerly 2A), catalytic subunit, beta isoform"""			8383590	Standard	NM_001009552		Approved	PP2Abeta	uc003xik.3	P62714	OTTHUMG00000163949	ENST00000221138.4:c.862C>T	chr8.hg19:g.30643819G>A	ENSP00000221138:p.Gln288*	25.0	0.0		34.0	5.0	NM_001009552	D3DSV4|P11082|Q6FHK5	Nonsense_Mutation	SNP	ENST00000221138.4	hg19	CCDS6079.1	.	.	.	.	.	.	.	.	.	.	G	39	7.904227	0.98554	.	.	ENSG00000104695	ENST00000221138;ENST00000406655	.	.	.	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-8.8029	17.9622	0.89089	0.0:0.0:1.0:0.0	.	.	.	.	X	288	.	ENSP00000221138:Q288X	Q	-	1	0	PPP2CB	30763361	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.476000	0.97823	2.400000	0.81607	0.563000	0.77884	CAA	.	.		0.438	PPP2CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376527.2	NM_001009552	
ZMAT4	79698	hgsc.bcm.edu	37	8	40683185	40683185	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:40683185G>A	ENST00000297737.6	-	2	157	c.11C>T	c.(10-12)tCc>tTc	p.S4F	ZMAT4_ENST00000523823.1_5'UTR|ZMAT4_ENST00000315769.7_Missense_Mutation_p.S4F	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	4						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			ATCAATATCGGAGGACTTCAT	0.443																																					p.S4F		Atlas-SNP	.											.	ZMAT4	47	.	0			c.C11T						.						44.0	37.0	39.0					8																	40683185		2186	4262	6448	SO:0001583	missense	79698	exon2			ATATCGGAGGACT	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.11C>T	chr8.hg19:g.40683185G>A	ENSP00000297737:p.Ser4Phe	28.0	0.0		78.0	8.0	NM_024645	Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	hg19	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	G	14.08	2.428304	0.43122	.	.	ENSG00000165061	ENST00000315769;ENST00000297737;ENST00000519406	T;T;T	0.46819	0.86;0.87;0.87	5.37	5.37	0.77165	.	0.174304	0.50627	D	0.000101	T	0.48169	0.1485	N	0.08118	0	0.46376	D	0.999019	P;P	0.48694	0.914;0.855	D;B	0.63703	0.917;0.36	T	0.57142	-0.7862	10	0.72032	D	0.01	-16.5024	14.9923	0.71399	0.0:0.0:1.0:0.0	.	4;4	Q9H898-2;Q9H898	.;ZMAT4_HUMAN	F	4	ENSP00000319785:S4F;ENSP00000297737:S4F;ENSP00000428423:S4F	ENSP00000297737:S4F	S	-	2	0	ZMAT4	40802342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.339000	0.72969	2.692000	0.91855	0.591000	0.81541	TCC	.	.		0.443	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	NM_024645	
HGSNAT	138050	hgsc.bcm.edu	37	8	43033222	43033222	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:43033222T>A	ENST00000458501.2	+	10	941	c.941T>A	c.(940-942)gTa>gAa	p.V314E	HGSNAT_ENST00000297798.7_5'Flank|HGSNAT_ENST00000521576.1_5'Flank|HGSNAT_ENST00000379644.4_Missense_Mutation_p.V286E			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	314					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lysosomal transport (GO:0007041)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	heparan-alpha-glucosaminide N-acetyltransferase activity (GO:0015019)|transferase activity, transferring acyl groups (GO:0016746)			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TTTAGGTTTGTATTTATTATG	0.333																																					p.V286E		Atlas-SNP	.											.	HGSNAT	85	.	0			c.T857A						.						115.0	116.0	116.0					8																	43033222		1792	4062	5854	SO:0001583	missense	138050	exon10			GGTTTGTATTTAT		CCDS47852.1	8p11.1	2011-11-16	2006-09-05	2006-08-16	ENSG00000165102	ENSG00000165102	2.3.1.78		26527	protein-coding gene	gene with protein product		610453	"""transmembrane protein 76"""	TMEM76		17033958, 16960811	Standard	NM_152419		Approved	FLJ32731, HGNAT	uc003xpx.4	Q68CP4	OTTHUMG00000164102	ENST00000458501.2:c.941T>A	chr8.hg19:g.43033222T>A	ENSP00000389524:p.Val314Glu	101.0	0.0		225.0	17.0	NM_152419	B4E2V0	Missense_Mutation	SNP	ENST00000458501.2	hg19		.	.	.	.	.	.	.	.	.	.	T	22.2	4.255759	0.80135	.	.	ENSG00000165102	ENST00000458501;ENST00000379644;ENST00000522082	D;D;D	0.91068	-2.78;-2.78;-1.89	5.68	5.68	0.88126	.	0.144593	0.46442	D	0.000287	D	0.95204	0.8445	M	0.85373	2.75	0.80722	D	1	D	0.63880	0.993	D	0.65573	0.936	D	0.95751	0.8792	10	0.87932	D	0	-10.7461	13.9256	0.63961	0.0:0.0:0.0:1.0	.	314	Q68CP4	HGNAT_HUMAN	E	314;286;33	ENSP00000389524:V314E;ENSP00000368965:V286E;ENSP00000430151:V33E	ENSP00000368965:V286E	V	+	2	0	HGSNAT	43152379	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	6.332000	0.72934	2.179000	0.69175	0.529000	0.55759	GTA	.	.		0.333	HGSNAT-202	KNOWN	basic	protein_coding	protein_coding		XM_372038	
OPRK1	4986	hgsc.bcm.edu	37	8	54147486	54147486	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:54147486G>C	ENST00000265572.3	-	3	740	c.443C>G	c.(442-444)aCc>aGc	p.T148S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.T148S|OPRK1_ENST00000524278.1_Missense_Mutation_p.T59S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CATGGTCAAGGTGAAGATGCT	0.483																																					p.T148S		Atlas-SNP	.											.	OPRK1	90	.	0			c.C443G						.						140.0	113.0	122.0					8																	54147486		2203	4300	6503	SO:0001583	missense	4986	exon3			GTCAAGGTGAAGA		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.443C>G	chr8.hg19:g.54147486G>C	ENSP00000265572:p.Thr148Ser	62.0	0.0		189.0	12.0	NM_000912	E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	hg19	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379661	0.82682	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.19532	2.14;2.14;2.14	5.95	5.95	0.96441	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.49270	0.1547	M	0.79693	2.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.35847	-0.9772	10	0.12430	T	0.62	.	20.3732	0.98896	0.0:0.0:1.0:0.0	.	148	P41145	OPRK_HUMAN	S	148;59;148;134	ENSP00000265572:T148S;ENSP00000430923:T59S;ENSP00000429706:T148S	ENSP00000265572:T148S	T	-	2	0	OPRK1	54310039	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	9.711000	0.98735	2.809000	0.96659	0.650000	0.86243	ACC	.	.		0.483	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1		
TRIM55	84675	hgsc.bcm.edu	37	8	67067941	67067941	+	Intron	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:67067941A>C	ENST00000315962.4	+	9	1897				TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Missense_Mutation_p.L536F|TRIM55_ENST00000350034.4_Intron	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TTTTTACTTTAATGGGTAGGA	0.363																																					p.L536F		Atlas-SNP	.											.	TRIM55	91	.	0			c.A1608C						.						146.0	130.0	135.0					8																	67067941		2203	4299	6502	SO:0001627	intron_variant	84675	exon10			TACTTTAATGGGT	AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1524+1372A>C	chr8.hg19:g.67067941A>C		136.0	0.0		288.0	26.0	NM_033058	B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Missense_Mutation	SNP	ENST00000315962.4	hg19	CCDS6184.1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.330611	0.60743	.	.	ENSG00000147573	ENST00000276573	T	0.35048	1.33	5.8	3.04	0.35103	.	.	.	.	.	T	0.17959	0.0431	N	0.08118	0	0.80722	D	1	B	0.20671	0.047	B	0.19946	0.027	T	0.04991	-1.0913	9	0.31617	T	0.26	.	8.5873	0.33666	0.5693:0.3543:0.0763:0.0	.	536	Q9BYV6-3	.	F	536	ENSP00000276573:L536F	ENSP00000276573:L536F	L	+	3	2	TRIM55	67230495	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	0.539000	0.23175	1.000000	0.39049	0.529000	0.55759	TTA	.	.		0.363	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378921.1	NM_184085	
PREX2	80243	hgsc.bcm.edu	37	8	68934295	68934295	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:68934295G>C	ENST00000288368.4	+	4	638	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	121	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TATCTATGATGAATATTGTAG	0.294																																					p.E121Q		Atlas-SNP	.											.	PREX2	614	.	0			c.G361C						.						108.0	106.0	107.0					8																	68934295		2202	4300	6502	SO:0001583	missense	80243	exon4			TATGATGAATATT	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.361G>C	chr8.hg19:g.68934295G>C	ENSP00000288368:p.Glu121Gln	40.0	0.0		93.0	7.0	NM_025170	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	hg19	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	31	5.067046	0.93898	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.64085	-0.08	6.04	6.04	0.98038	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	L	0.45051	1.395	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;D;D	0.91635	0.999;0.981;0.979	T	0.75739	-0.3212	10	0.87932	D	0	.	20.5948	0.99439	0.0:0.0:1.0:0.0	.	121;121;121	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	Q	121	ENSP00000288368:E121Q	ENSP00000288368:E121Q	E	+	1	0	PREX2	69096849	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.452000	0.97615	2.873000	0.98535	0.563000	0.77884	GAA	.	.		0.294	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170	
KCNB2	9312	hgsc.bcm.edu	37	8	73848335	73848335	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:73848335C>G	ENST00000523207.1	+	3	1333	c.745C>G	c.(745-747)Ctt>Gtt	p.L249V		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	249					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	CATGGAGTACCTTTTGCGATT	0.458																																					p.L249V		Atlas-SNP	.											.	KCNB2	228	.	0			c.C745G						.						195.0	168.0	177.0					8																	73848335		2203	4300	6503	SO:0001583	missense	9312	exon3			GAGTACCTTTTGC	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.745C>G	chr8.hg19:g.73848335C>G	ENSP00000430846:p.Leu249Val	134.0	0.0		405.0	34.0	NM_004770	Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	ENST00000523207.1	hg19	CCDS6209.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760784	0.69763	.	.	ENSG00000182674	ENST00000523207	D	0.98419	-4.92	5.93	5.93	0.95920	Ion transport (1);	0.000000	0.40818	N	0.001009	D	0.97654	0.9231	N	0.17631	0.505	0.80722	D	1	P	0.49696	0.927	P	0.61397	0.888	D	0.97710	1.0190	10	0.39692	T	0.17	.	20.3507	0.98813	0.0:1.0:0.0:0.0	.	249	Q92953	KCNB2_HUMAN	V	249	ENSP00000430846:L249V	ENSP00000430846:L249V	L	+	1	0	KCNB2	74010889	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	7.818000	0.86416	2.808000	0.96608	0.655000	0.94253	CTT	.	.		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
LRRCC1	85444	hgsc.bcm.edu	37	8	86057622	86057622	+	Splice_Site	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:86057622A>T	ENST00000360375.3	+	19	3125		c.e19-1		LRRCC1_ENST00000414626.2_Splice_Site	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1						mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.?(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATGTCGATTTAGGTCCATCAA	0.264																																					.		Atlas-SNP	.											LRRCC1_ENST00000414626,NS,carcinoma,0,2	LRRCC1	212	.	2	Unknown(2)	lung(2)	c.2977-2A>T						.						37.0	34.0	35.0					8																	86057622		1785	4056	5841	SO:0001630	splice_region_variant	85444	exon19			CGATTTAGGTCCA	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2977-1A>T	chr8.hg19:g.86057622A>T		109.0	0.0		300.0	141.0	NM_033402	B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Splice_Site	SNP	ENST00000360375.3	hg19	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.384971	0.25031	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	.	.	.	5.06	5.06	0.68205	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9715	0.71238	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRCC1	86244874	1.000000	0.71417	0.972000	0.41901	0.023000	0.10783	7.483000	0.81158	2.112000	0.64535	0.459000	0.35465	.	.	.		0.264	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	Intron
STK3	6788	hgsc.bcm.edu	37	8	99560362	99560362	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:99560362T>A	ENST00000419617.2	-	9	1116	c.976A>T	c.(976-978)Atg>Ttg	p.M326L	STK3_ENST00000523601.1_Missense_Mutation_p.M354L	NM_006281.3	NP_006272.2	Q13188	STK3_HUMAN	serine/threonine kinase 3	326					apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		GTCTTCACCATGGTGTGGGAA	0.463																																					p.M354L		Atlas-SNP	.											.	STK3	47	.	0			c.A1060T						.						57.0	54.0	55.0					8																	99560362		1937	4146	6083	SO:0001583	missense	6788	exon11			TCACCATGGTGTG	BC010640	CCDS47900.1, CCDS59108.1, CCDS75774.1	8q22.2	2011-05-24	2010-06-25		ENSG00000104375	ENSG00000104375			11406	protein-coding gene	gene with protein product		605030	"""serine/threonine kinase 3 (Ste20, yeast homolog)"""			8816758	Standard	NM_006281		Approved	MST2, KRS1	uc003yip.4	Q13188	OTTHUMG00000164651	ENST00000419617.2:c.976A>T	chr8.hg19:g.99560362T>A	ENSP00000390500:p.Met326Leu	61.0	0.0		212.0	9.0	NM_001256312	A8K722|B3KYA7|Q15445|Q15801|Q96FM6	Missense_Mutation	SNP	ENST00000419617.2	hg19	CCDS47900.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.648917	0.67358	.	.	ENSG00000104375	ENST00000419617;ENST00000523601;ENST00000518165	T;T;T	0.71222	-0.55;-0.54;0.27	5.74	5.74	0.90152	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.72827	0.3509	L	0.49455	1.56	0.80722	D	1	B;B;B	0.27068	0.167;0.011;0.026	B;B;B	0.41332	0.354;0.02;0.02	T	0.68349	-0.5432	10	0.27082	T	0.32	.	16.0502	0.80755	0.0:0.0:0.0:1.0	.	215;326;354	E5RFQ9;Q13188;B3KYA7	.;STK3_HUMAN;.	L	326;354;215	ENSP00000390500:M326L;ENSP00000429744:M354L;ENSP00000428014:M215L	ENSP00000390500:M326L	M	-	1	0	STK3	99629538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.625000	0.83145	2.197000	0.70478	0.528000	0.53228	ATG	.	.		0.463	STK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379635.1	NM_006281	
DCSTAMP	81501	hgsc.bcm.edu	37	8	105360964	105360964	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:105360964G>A	ENST00000297581.2	+	2	233	c.184G>A	c.(184-186)Gct>Act	p.A62T	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.A62T	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	62	Poly-Ala. {ECO:0000255}.				cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											CATAGCGGCCGCTGCCTCCTG	0.507																																					p.A62T		Atlas-SNP	.											.	.	.	.	0			c.G184A						.						131.0	120.0	124.0					8																	105360964		2203	4300	6503	SO:0001583	missense	81501	exon2			GCGGCCGCTGCCT	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.184G>A	chr8.hg19:g.105360964G>A	ENSP00000297581:p.Ala62Thr	106.0	0.0		298.0	88.0	NM_001257317	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	hg19	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	G	7.740	0.701009	0.15172	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.30182	1.54	5.84	-11.7	0.00046	.	1.847400	0.01832	N	0.034757	T	0.12347	0.0300	N	0.12182	0.205	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.06338	-1.0832	9	.	.	.	2.7823	5.6546	0.17635	0.5878:0.146:0.178:0.0883	.	62	Q9H295	TM7S4_HUMAN	T	62	ENSP00000297581:A62T	.	A	+	1	0	TM7SF4	105430140	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.120000	0.03273	-2.683000	0.00407	-0.302000	0.09304	GCT	.	.		0.507	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
DCSTAMP	81501	hgsc.bcm.edu	37	8	105361088	105361088	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:105361088C>A	ENST00000297581.2	+	2	357	c.308C>A	c.(307-309)aCa>aAa	p.T103K	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Missense_Mutation_p.T103K	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	103					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)											GCAGCTGGCACAGGGATCGTC	0.443																																					p.T103K		Atlas-SNP	.											.	.	.	.	0			c.C308A						.						65.0	63.0	64.0					8																	105361088		2203	4300	6503	SO:0001583	missense	81501	exon2			CTGGCACAGGGAT	AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.308C>A	chr8.hg19:g.105361088C>A	ENSP00000297581:p.Thr103Lys	103.0	0.0		344.0	20.0	NM_001257317	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	hg19	CCDS6301.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481689	0.84747	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T	0.34859	1.34	5.84	5.84	0.93424	.	0.097167	0.64402	D	0.000001	T	0.59945	0.2231	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.77004	0.989	T	0.55679	-0.8103	9	.	.	.	-18.0528	18.3185	0.90229	0.0:1.0:0.0:0.0	.	103	Q9H295	TM7S4_HUMAN	K	103	ENSP00000297581:T103K	.	T	+	2	0	TM7SF4	105430264	0.991000	0.36638	0.993000	0.49108	0.993000	0.82548	2.937000	0.48979	2.779000	0.95612	0.655000	0.94253	ACA	.	.		0.443	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788	
ABRA	137735	hgsc.bcm.edu	37	8	107782232	107782232	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:107782232G>C	ENST00000311955.3	-	1	241	c.187C>G	c.(187-189)Cct>Gct	p.P63A		NM_139166.4	NP_631905.1			actin-binding Rho activating protein									p.P63T(1)		breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			ATTGGTTTAGGAGCTTGAGGT	0.607																																					p.P63A		Atlas-SNP	.											ABRA,NS,carcinoma,0,1	ABRA	57	.	1	Substitution - Missense(1)	ovary(1)	c.C187G						.						89.0	90.0	90.0					8																	107782232		2203	4300	6503	SO:0001583	missense	137735	exon1			GTTTAGGAGCTTG	AF503617	CCDS6305.1	8q23.1	2012-02-06			ENSG00000174429	ENSG00000174429			30655	protein-coding gene	gene with protein product	"""striated muscle activator of Rho-dependent signaling"""	609747				11983702	Standard	NM_139166		Approved	STARS	uc003ymm.4	Q8N0Z2	OTTHUMG00000164809	ENST00000311955.3:c.187C>G	chr8.hg19:g.107782232G>C	ENSP00000311436:p.Pro63Ala	127.0	0.0		451.0	292.0	NM_139166		Missense_Mutation	SNP	ENST00000311955.3	hg19	CCDS6305.1	.	.	.	.	.	.	.	.	.	.	G	1.608	-0.524884	0.04141	.	.	ENSG00000174429	ENST00000311955	D	0.92446	-3.04	5.66	0.368	0.16146	.	0.804396	0.11835	N	0.524850	D	0.85124	0.5625	L	0.50333	1.59	0.09310	N	1	B	0.27068	0.167	B	0.24269	0.052	T	0.71269	-0.4643	10	0.31617	T	0.26	0.172	0.8137	0.01098	0.3794:0.1161:0.2683:0.2362	.	63	Q8N0Z2	ABRA_HUMAN	A	63	ENSP00000311436:P63A	ENSP00000311436:P63A	P	-	1	0	ABRA	107851408	0.000000	0.05858	0.008000	0.14137	0.330000	0.28571	0.103000	0.15292	0.030000	0.15379	-0.150000	0.13652	CCT	.	.		0.607	ABRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380416.1	NM_139166	
OC90	729330	hgsc.bcm.edu	37	8	133053841	133053841	+	Missense_Mutation	SNP	C	C	A	rs372434452		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:133053841C>A	ENST00000443356.2	-	5	361	c.275G>T	c.(274-276)cGa>cTa	p.R92L	OC90_ENST00000262283.5_Missense_Mutation_p.R288L|OC90_ENST00000603859.1_Missense_Mutation_p.R92L|OC90_ENST00000254627.3_Missense_Mutation_p.R92L			Q02509	OC90_HUMAN	otoconin 90	92	Phospholipase A2-like 1.				lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TTCAAAGTCTCGGGGGCAGAG	0.527																																					p.R92L		Atlas-SNP	.											.	OC90	163	.	0			c.G275T						.						46.0	47.0	47.0					8																	133053841		1998	4165	6163	SO:0001583	missense	729330	exon5			AAGTCTCGGGGGC	Z14310	CCDS47919.1	8q24.22	2011-03-01			ENSG00000253117	ENSG00000253117			8100	protein-coding gene	gene with protein product		601658		PLA2L		10329003, 9860971	Standard	NM_001080399		Approved		uc011lix.1	Q02509	OTTHUMG00000164672	ENST00000443356.2:c.275G>T	chr8.hg19:g.133053841C>A	ENSP00000390050:p.Arg92Leu	69.0	0.0		447.0	18.0	NM_001080399	B4DNG8	Missense_Mutation	SNP	ENST00000443356.2	hg19		.	.	.	.	.	.	.	.	.	.	C	20.9	4.073290	0.76415	.	.	ENSG00000253117;ENSG00000253117;ENSG00000258417	ENST00000254627;ENST00000443356;ENST00000262283	T;T;T	0.23552	1.9;1.9;1.9	5.88	4.9	0.64082	Phospholipase A2 (3);	0.204155	0.39909	N	0.001230	T	0.26011	0.0634	N	0.04880	-0.145	0.34035	D	0.654297	D;D	0.89917	1.0;1.0	D;D	0.78314	0.985;0.991	T	0.27331	-1.0077	10	0.35671	T	0.21	-24.1919	10.1278	0.42661	0.0:0.8788:0.0:0.1212	.	92;92	Q02509-2;Q02509	.;OC90_HUMAN	L	92;92;288	ENSP00000254627:R92L;ENSP00000390050:R92L;ENSP00000262283:R288L	ENSP00000254627:R92L	R	-	2	0	RP11-240B13.2;OC90	133123023	0.991000	0.36638	0.998000	0.56505	0.991000	0.79684	2.905000	0.48727	2.790000	0.95986	0.591000	0.81541	CGA	.	.		0.527	OC90-201	KNOWN	basic	protein_coding	protein_coding		NM_001080399	
KCNQ3	3786	hgsc.bcm.edu	37	8	133153576	133153576	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:133153576T>A	ENST00000388996.4	-	10	1685	c.1265A>T	c.(1264-1266)cAa>cTa	p.Q422L	KCNQ3_ENST00000521134.1_Missense_Mutation_p.Q302L|KCNQ3_ENST00000519445.1_Missense_Mutation_p.Q422L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	422					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACCCAGCTTTTGGCTACAAAA	0.428																																					p.Q422L		Atlas-SNP	.											.	KCNQ3	164	.	0			c.A1265T						.						59.0	62.0	61.0					8																	133153576		2203	4300	6503	SO:0001583	missense	3786	exon10			AGCTTTTGGCTAC	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1265A>T	chr8.hg19:g.133153576T>A	ENSP00000373648:p.Gln422Leu	38.0	0.0		133.0	20.0	NM_004519	A2VCT8|B4DJY4|E7EQ89	Missense_Mutation	SNP	ENST00000388996.4	hg19	CCDS34943.1	.	.	.	.	.	.	.	.	.	.	T	19.15	3.772611	0.69992	.	.	ENSG00000184156	ENST00000388996;ENST00000521134;ENST00000519445;ENST00000542679;ENST00000423790	D;D;D	0.99113	-5.43;-5.38;-5.44	5.88	5.88	0.94601	.	0.057631	0.64402	D	0.000001	D	0.98741	0.9577	L	0.41824	1.3	0.58432	D	0.99999	D;D	0.63880	0.993;0.993	D;D	0.72338	0.977;0.977	D	0.99912	1.1208	10	0.72032	D	0.01	-11.0067	15.4686	0.75422	0.0:0.0:0.0:1.0	.	422;422	E7ET42;O43525	.;KCNQ3_HUMAN	L	422;302;422;411;301	ENSP00000373648:Q422L;ENSP00000429799:Q302L;ENSP00000428790:Q422L	ENSP00000373648:Q422L	Q	-	2	0	KCNQ3	133222758	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.480000	0.81109	2.248000	0.74166	0.528000	0.53228	CAA	.	.		0.428	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519	
TSTA3	7264	hgsc.bcm.edu	37	8	144698895	144698895	+	Splice_Site	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:144698895T>C	ENST00000425753.2	-	2	93		c.e2-2		TSTA3_ENST00000529064.1_Splice_Site	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B						'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|cytolysis (GO:0019835)|GDP-mannose metabolic process (GO:0019673)|leukocyte cell-cell adhesion (GO:0007159)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	coenzyme binding (GO:0050662)|electron carrier activity (GO:0009055)|GDP-4-dehydro-D-rhamnose reductase activity (GO:0042356)|GDP-L-fucose synthase activity (GO:0050577)|isomerase activity (GO:0016853)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CAGTTGCACCTGTAATGTCAA	0.572																																					.		Atlas-SNP	.											.	TSTA3	23	.	0			.						.						130.0	118.0	122.0					8																	144698895		2203	4300	6503	SO:0001630	splice_region_variant	7264	.			TGCACCTGTAATG	U58766	CCDS6408.1	8q24.3	2012-02-22			ENSG00000104522	ENSG00000104522	1.1.1.271	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	12390	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 4E, member 1"", ""GDP-L-fucose synthase"""	137020				7803801, 1348494, 19027726	Standard	NM_003313		Approved	FX, P35B, SDR4E1	uc003yzb.2	Q13630	OTTHUMG00000165159	ENST00000425753.2:c.11-2A>G	chr8.hg19:g.144698895T>C		41.0	0.0		176.0	20.0	.	B2R8Y7|D3DWK5|Q567Q9|Q9UDG7	Splice_Site	SNP	ENST00000425753.2	hg19	CCDS6408.1																																																																																			.	.		0.572	TSTA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382263.1	NM_003313	Intron
KANK1	23189	hgsc.bcm.edu	37	9	738429	738429	+	Missense_Mutation	SNP	G	G	A	rs374492770		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:738429G>A	ENST00000382303.1	+	12	4130	c.3478G>A	c.(3478-3480)Ggc>Agc	p.G1160S	KANK1_ENST00000382293.3_Missense_Mutation_p.G1002S|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.G1160S	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1160	Interaction with KIF21A.				negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTTGGCAGACGGCAACGGCAA	0.547																																					p.G1160S		Atlas-SNP	.											.	KANK1	231	.	0			c.G3478A						.	G	SER/GLY,SER/GLY	0,4406		0,0,2203	166.0	123.0	138.0		3478,3004	5.4	1.0	9		138	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	KANK1	NM_015158.2,NM_153186.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1160/1353,1002/1195	738429	1,13005	2203	4300	6503	SO:0001583	missense	23189	exon12			GCAGACGGCAACG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3478G>A	chr9.hg19:g.738429G>A	ENSP00000371740:p.Gly1160Ser	92.0	0.0		175.0	16.0	NM_001256876	A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	ENST00000382303.1	hg19	CCDS34976.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613308	0.87359	0.0	1.16E-4	ENSG00000107104	ENST00000382303;ENST00000397976;ENST00000382297;ENST00000382293;ENST00000382289;ENST00000382286	T;T;T	0.62788	0.0;0.0;0.0	5.37	5.37	0.77165	Ankyrin repeat-containing domain (3);	0.000000	0.52532	D	0.000076	T	0.73976	0.3656	L	0.54965	1.715	0.80722	D	1	D;D;D	0.76494	0.999;0.994;0.999	D;P;D	0.71414	0.973;0.803;0.972	T	0.66500	-0.5908	10	0.14656	T	0.56	-18.4727	19.4732	0.94971	0.0:0.0:1.0:0.0	.	206;72;1160	F5H7I5;Q5W0W2;Q14678	.;.;KANK1_HUMAN	S	1160;206;1160;1002;138;72	ENSP00000371740:G1160S;ENSP00000371734:G1160S;ENSP00000371730:G1002S	ENSP00000371723:G72S	G	+	1	0	KANK1	728429	1.000000	0.71417	0.987000	0.45799	0.943000	0.58893	9.700000	0.98707	2.680000	0.91292	0.563000	0.77884	GGC	.	.		0.547	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158	
KCNV2	169522	hgsc.bcm.edu	37	9	2718262	2718262	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:2718262G>A	ENST00000382082.3	+	1	761	c.523G>A	c.(523-525)Ggg>Agg	p.G175R		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	175					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		GGTGCTCGACGGGCTGTGTCC	0.647																																					p.G175R		Atlas-SNP	.											KCNV2,NS,carcinoma,0,1	KCNV2	72	.	0			c.G523A						.						24.0	21.0	22.0					9																	2718262		2200	4300	6500	SO:0001583	missense	169522	exon1			CTCGACGGGCTGT	AF348983	CCDS6447.1	9p24.2	2011-07-05			ENSG00000168263	ENSG00000168263		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19698	protein-coding gene	gene with protein product		607604				12060745, 16382104	Standard	NM_133497		Approved	Kv8.2	uc003zho.2	Q8TDN2	OTTHUMG00000019449	ENST00000382082.3:c.523G>A	chr9.hg19:g.2718262G>A	ENSP00000371514:p.Gly175Arg	22.0	0.0		55.0	22.0	NM_133497	Q5T6X0	Missense_Mutation	SNP	ENST00000382082.3	hg19	CCDS6447.1	.	.	.	.	.	.	.	.	.	.	G	10.62	1.402059	0.25291	.	.	ENSG00000168263	ENST00000423608;ENST00000382082	D	0.94417	-3.42	4.98	4.98	0.66077	BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.155107	0.56097	D	0.000029	D	0.91161	0.7216	L	0.37697	1.125	0.21967	N	0.999442	B	0.26577	0.153	B	0.09377	0.004	D	0.84442	0.0583	10	0.66056	D	0.02	.	18.2717	0.90070	0.0:0.0:1.0:0.0	.	175	Q8TDN2	KCNV2_HUMAN	R	175	ENSP00000371514:G175R	ENSP00000371514:G175R	G	+	1	0	KCNV2	2708262	1.000000	0.71417	0.928000	0.36995	0.024000	0.10985	9.852000	0.99516	2.306000	0.77630	0.462000	0.41574	GGG	.	.		0.647	KCNV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051528.1	NM_133497	
RFX3	5991	hgsc.bcm.edu	37	9	3346710	3346710	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:3346710G>A	ENST00000382004.3	-	4	483	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	RFX3_ENST00000358730.2_Nonsense_Mutation_p.Q58*|RFX3_ENST00000302303.1_Nonsense_Mutation_p.Q58*|RFX3_ENST00000381984.2_Nonsense_Mutation_p.Q58*	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	58					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TCCACATACTGCACCTGAGCG	0.418																																					p.Q58X		Atlas-SNP	.											.	RFX3	156	.	0			c.C172T						.						150.0	127.0	135.0					9																	3346710		2203	4300	6503	SO:0001587	stop_gained	5991	exon4			CATACTGCACCTG	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.172C>T	chr9.hg19:g.3346710G>A	ENSP00000371434:p.Gln58*	69.0	0.0		137.0	6.0	NM_134428	A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Nonsense_Mutation	SNP	ENST00000382004.3	hg19	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	37	5.987667	0.97179	.	.	ENSG00000080298	ENST00000382004;ENST00000381992;ENST00000358730;ENST00000302303;ENST00000457373;ENST00000451859;ENST00000442560;ENST00000420720;ENST00000381985;ENST00000449190;ENST00000381984	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.7085	18.3614	0.90375	0.0:0.0:1.0:0.0	.	.	.	.	X	58;58;58;58;58;58;19;19;58;58;58	.	ENSP00000303847:Q58X	Q	-	1	0	RFX3	3336710	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.257000	0.89851	2.612000	0.88384	0.655000	0.94253	CAG	.	.		0.418	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919	
PLIN2	123	hgsc.bcm.edu	37	9	19121143	19121143	+	Silent	SNP	G	G	A	rs368424624		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:19121143G>A	ENST00000276914.2	-	5	509	c.330C>T	c.(328-330)ggC>ggT	p.G110G	PLIN2_ENST00000411567.1_Silent_p.G110G	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	110					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CAGTCACAGCGCCTTTGGCAT	0.512																																					p.G110G		Atlas-SNP	.											.	PLIN2	41	.	0			c.C330T						.						64.0	55.0	58.0					9																	19121143		2203	4300	6503	SO:0001819	synonymous_variant	123	exon5			CACAGCGCCTTTG	X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.330C>T	chr9.hg19:g.19121143G>A		46.0	0.0		76.0	15.0	NM_001122	Q9BSC3	Silent	SNP	ENST00000276914.2	hg19	CCDS6490.1																																																																																			.	.		0.512	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051835.1	NM_001122	
IFNA8	3445	hgsc.bcm.edu	37	9	21409564	21409564	+	Missense_Mutation	SNP	T	T	C	rs28383787		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:21409564T>C	ENST00000380205.1	+	1	419	c.389T>C	c.(388-390)aTa>aCa	p.I130T		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	130					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		GTGGGGGTGATAGAGTCTCCC	0.478																																					p.I130T		Atlas-SNP	.											.	IFNA8	19	.	0			c.T389C						.						144.0	142.0	142.0					9																	21409564		2203	4300	6503	SO:0001583	missense	3445	exon1			GGGTGATAGAGTC		CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.389T>C	chr9.hg19:g.21409564T>C	ENSP00000369553:p.Ile130Thr	110.0	0.0		236.0	11.0	NM_002170	P01565|P09236|Q5VWV7|Q5VYQ3	Missense_Mutation	SNP	ENST00000380205.1	hg19	CCDS6507.1	.	.	.	.	.	.	.	.	.	.	T	5.842	0.339510	0.11069	.	.	ENSG00000120242	ENST00000380205	T	0.05081	3.5	3.48	-2.49	0.06403	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	2.002250	0.01939	N	0.041792	T	0.01661	0.0053	N	0.00347	-1.61	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38436	-0.9661	10	0.40728	T	0.16	.	1.2648	0.02009	0.3469:0.3593:0.1167:0.1771	.	130	P32881	IFNA8_HUMAN	T	130	ENSP00000369553:I130T	ENSP00000369553:I130T	I	+	2	0	IFNA8	21399564	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.378000	0.07446	-0.568000	0.06038	-2.123000	0.00347	ATA	.	.		0.478	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170	
PRUNE2	158471	hgsc.bcm.edu	37	9	79322715	79322715	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:79322715C>A	ENST00000376718.3	-	8	4598	c.4475G>T	c.(4474-4476)gGg>gTg	p.G1492V	PRUNE2_ENST00000428286.1_Missense_Mutation_p.G1133V	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1492					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGGGACGTCCCCAAAATCAAG	0.473																																					p.G1492V		Atlas-SNP	.											.	PRUNE2	331	.	0			c.G4475T						.						43.0	42.0	42.0					9																	79322715		1568	3582	5150	SO:0001583	missense	158471	exon8			ACGTCCCCAAAAT	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.4475G>T	chr9.hg19:g.79322715C>A	ENSP00000365908:p.Gly1492Val	42.0	0.0		70.0	31.0	NM_015225	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	ENST00000376718.3	hg19	CCDS47982.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.827|9.827	1.187396|1.187396	0.21870|0.21870	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.42900|.	0.96;0.96|.	5.49|5.49	1.47|1.47	0.22746|0.22746	.|.	2.023720|.	0.02173|.	N|.	0.059905|.	T|T	0.22589|0.22589	0.0545|0.0545	N|N	0.22421|0.22421	0.69|0.69	0.23981|0.23981	N|N	0.996276|0.996276	B|.	0.23806|.	0.091|.	B|.	0.19148|.	0.024|.	T|T	0.23261|0.23261	-1.0193|-1.0193	10|5	0.44086|.	T|.	0.13|.	8.2657|8.2657	5.2588|5.2588	0.15561|0.15561	0.153:0.6233:0.0:0.2236|0.153:0.6233:0.0:0.2236	.|.	1492|.	Q8WUY3|.	PRUN2_HUMAN|.	V|C	1492;1133;1491|813	ENSP00000365908:G1492V;ENSP00000397425:G1133V|.	ENSP00000365908:G1492V|.	G|W	-|-	2|3	0|0	PRUNE2|PRUNE2	78512535|78512535	0.622000|0.622000	0.27085|0.27085	0.009000|0.009000	0.14445|0.14445	0.004000|0.004000	0.04260|0.04260	0.607000|0.607000	0.24209|0.24209	0.344000|0.344000	0.23847|0.23847	-0.140000|-0.140000	0.14226|0.14226	GGG|TGG	.	.		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	NM_138818	
VPS13A	23230	hgsc.bcm.edu	37	9	79824389	79824389	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:79824389C>T	ENST00000360280.3	+	6	696	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	VPS13A_ENST00000376636.3_Nonsense_Mutation_p.Q146*|VPS13A_ENST00000376634.4_Nonsense_Mutation_p.Q146*|VPS13A_ENST00000357409.5_Nonsense_Mutation_p.Q146*	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	146					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATTAGTTACACAGATCATAAA	0.254																																					p.Q146X		Atlas-SNP	.											.	VPS13A	735	.	0			c.C436T						.						38.0	40.0	39.0					9																	79824389		2203	4290	6493	SO:0001587	stop_gained	23230	exon6			GTTACACAGATCA	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.436C>T	chr9.hg19:g.79824389C>T	ENSP00000353422:p.Gln146*	99.0	0.0		282.0	23.0	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Nonsense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	C	38	6.912853	0.97928	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	.	.	.	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4521	0.94872	0.0:1.0:0.0:0.0	.	.	.	.	X	146	.	ENSP00000349985:Q146X	Q	+	1	0	VPS13A	79014209	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.182000	0.77689	2.703000	0.92315	0.655000	0.94253	CAG	.	.		0.254	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
VPS13A	23230	hgsc.bcm.edu	37	9	79867172	79867172	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:79867172G>A	ENST00000360280.3	+	22	2452	c.2192G>A	c.(2191-2193)cGa>cAa	p.R731Q	VPS13A_ENST00000376636.3_Missense_Mutation_p.R731Q|VPS13A_ENST00000376634.4_Missense_Mutation_p.R731Q|VPS13A_ENST00000357409.5_Missense_Mutation_p.R731Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	731					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGAAGCACGAAAACTCAGT	0.353																																					p.R731Q		Atlas-SNP	.											VPS13A_ENST00000376634,caecum,carcinoma,0,3	VPS13A	735	.	0			c.G2192A						.						193.0	183.0	186.0					9																	79867172		2203	4300	6503	SO:0001583	missense	23230	exon22			AAGCACGAAAACT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.2192G>A	chr9.hg19:g.79867172G>A	ENSP00000353422:p.Arg731Gln	77.0	0.0		121.0	7.0	NM_001018038	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	ENST00000360280.3	hg19	CCDS6655.1	.	.	.	.	.	.	.	.	.	.	G	31	5.085841	0.94100	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	5.46	5.46	0.80206	.	0.148405	0.45606	D	0.000352	T	0.73305	0.3570	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.97110	0.95;0.997;1.0;1.0	T	0.69172	-0.5215	10	0.17369	T	0.5	.	18.9119	0.92489	0.0:0.0:1.0:0.0	.	731;731;731;731	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	Q	731	ENSP00000365821:R731Q;ENSP00000365823:R731Q;ENSP00000353422:R731Q;ENSP00000349985:R731Q	ENSP00000349985:R731Q	R	+	2	0	VPS13A	79056992	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.938000	0.87678	2.552000	0.86080	0.561000	0.74099	CGA	.	.		0.353	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186	
SPATA31C2	645961	hgsc.bcm.edu	37	9	90745601	90745601	+	IGR	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:90745601C>A								U6 (132351 upstream) : U3 (243582 downstream)																							TAAGCTCCTGCTCTGCTGGGT	0.577																																					p.S784I		Atlas-SNP	.											.	.	.	.	0			c.G2351T						.						2.0	3.0	3.0					9																	90745601		601	1415	2016	SO:0001628	intergenic_variant	645961	exon4			CTCCTGCTCTGCT																													chr9.hg19:g.90745601C>A		57.0	0.0		163.0	54.0	NM_001166137		Missense_Mutation	SNP		hg19																																																																																				.	.	0	0.577								
COL15A1	1306	hgsc.bcm.edu	37	9	101749575	101749575	+	Splice_Site	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:101749575G>A	ENST00000375001.3	+	4	1071		c.e4-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTTTTCCCCAGGGCTCCCTCC	0.567																																					.		Atlas-SNP	.											.	COL15A1	211	.	0			c.649-1G>A						.						185.0	169.0	174.0					9																	101749575		2203	4300	6503	SO:0001630	splice_region_variant	1306	exon4			TCCCCAGGGCTCC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.649-1G>A	chr9.hg19:g.101749575G>A		38.0	0.0		91.0	16.0	NM_001855	Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	SNP	ENST00000375001.3	hg19	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.403198	0.83230	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3894	0.66968	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL15A1	100789396	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.435000	0.80391	2.524000	0.85096	0.655000	0.94253	.	.	.		0.567	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855	Intron
GRIN3A	116443	hgsc.bcm.edu	37	9	104449365	104449365	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:104449365C>A	ENST00000361820.3	-	2	1417	c.817G>T	c.(817-819)Gac>Tac	p.D273Y		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	273					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ATGTTCCAGTCTTCCTGGCAC	0.448																																					p.D273Y		Atlas-SNP	.											.	GRIN3A	186	.	0			c.G817T						.						134.0	122.0	126.0					9																	104449365		2203	4300	6503	SO:0001583	missense	116443	exon2			TCCAGTCTTCCTG		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.817G>T	chr9.hg19:g.104449365C>A	ENSP00000355155:p.Asp273Tyr	89.0	0.0		193.0	13.0	NM_133445	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	hg19	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.670461	0.67814	.	.	ENSG00000198785	ENST00000361820	D	0.88896	-2.44	5.82	5.82	0.92795	.	0.350421	0.31821	N	0.007002	D	0.84897	0.5574	L	0.44542	1.39	0.58432	D	0.999999	P	0.34780	0.468	B	0.32864	0.154	T	0.81693	-0.0817	10	0.11182	T	0.66	.	20.1178	0.97943	0.0:1.0:0.0:0.0	.	273	Q8TCU5	NMD3A_HUMAN	Y	273	ENSP00000355155:D273Y	ENSP00000355155:D273Y	D	-	1	0	GRIN3A	103489186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.495000	0.66912	2.759000	0.94783	0.557000	0.71058	GAC	.	.		0.448	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1		
SMC2	10592	hgsc.bcm.edu	37	9	106894408	106894408	+	Splice_Site	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:106894408T>G	ENST00000286398.7	+	22	3396		c.e22+2		SMC2_ENST00000303219.8_Splice_Site|SMC2_ENST00000374793.3_Splice_Site|SMC2_ENST00000374787.3_Splice_Site	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2						kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGGCAAAAGGTACTTTTTATG	0.303																																					.		Atlas-SNP	.											.	SMC2	127	.	0			c.3108+2T>G						.						67.0	72.0	70.0					9																	106894408		2203	4294	6497	SO:0001630	splice_region_variant	10592	exon22			AAAAGGTACTTTT	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.3108+2T>G	chr9.hg19:g.106894408T>G		144.0	0.0		435.0	47.0	NM_001042551	Q6IEE0|Q9P1P2	Splice_Site	SNP	ENST00000286398.7	hg19	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.106937	0.77096	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.1896	0.65630	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SMC2	105934229	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.971000	0.88012	2.222000	0.72286	0.533000	0.62120	.	.	.		0.303	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1		Intron
KIAA0368	23392	hgsc.bcm.edu	37	9	114202776	114202776	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:114202776G>T	ENST00000338205.5	-	5	634	c.415C>A	c.(415-417)Ctt>Att	p.L139I	KIAA0368_ENST00000259335.4_Missense_Mutation_p.L317I			Q5VYK3	ECM29_HUMAN	KIAA0368	145					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ATGTGAAAAAGGGTTGGTATT	0.323																																					p.L317I		Atlas-SNP	.											.	KIAA0368	144	.	0			c.C949A						.						65.0	63.0	64.0					9																	114202776		1822	4078	5900	SO:0001583	missense	23392	exon7			GAAAAAGGGTTGG	AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.415C>A	chr9.hg19:g.114202776G>T	ENSP00000339889:p.Leu139Ile	39.0	0.0		86.0	29.0	NM_001080398	O15074|Q8WU82	Missense_Mutation	SNP	ENST00000338205.5	hg19		.	.	.	.	.	.	.	.	.	.	G	27.2	4.810502	0.90707	.	.	ENSG00000136813	ENST00000338205;ENST00000259335	T	0.46451	0.87	6.02	6.02	0.97574	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.58666	0.2138	L	0.41027	1.25	0.80722	D	1	D	0.57257	0.979	D	0.74023	0.982	T	0.50575	-0.8812	10	0.40728	T	0.16	.	20.5373	0.99239	0.0:0.0:1.0:0.0	.	145	Q5VYK3	ECM29_HUMAN	I	139;317	ENSP00000259335:L317I	ENSP00000259335:L317I	L	-	1	0	KIAA0368	113242597	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	2.857000	0.98124	0.650000	0.86243	CTT	.	.		0.323	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000053637.2	NM_014686	
ALAD	210	hgsc.bcm.edu	37	9	116151330	116151330	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:116151330C>G	ENST00000409155.3	-	11	1054	c.858G>C	c.(856-858)tgG>tgC	p.W286C	ALAD_ENST00000482001.1_5'Flank|ALAD_ENST00000277315.5_Missense_Mutation_p.W269C	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	286					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GGGCTCCATGCCACAGCATGG	0.612																																					p.W286C		Atlas-SNP	.											.	ALAD	36	.	0			c.G858C						.						41.0	38.0	39.0					9																	116151330		2203	4300	6503	SO:0001583	missense	210	exon11			TCCATGCCACAGC	M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.858G>C	chr9.hg19:g.116151330C>G	ENSP00000386284:p.Trp286Cys	47.0	0.0		121.0	11.0	NM_000031	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	ENST00000409155.3	hg19	CCDS6794.2	.	.	.	.	.	.	.	.	.	.	C	15.38	2.815140	0.50527	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.86694	-2.16;-2.16	5.7	5.7	0.88788	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	L	0.48935	1.535	0.80722	D	1	B;B;B	0.18610	0.007;0.013;0.029	B;B;B	0.17722	0.007;0.014;0.019	T	0.81013	-0.1125	10	0.66056	D	0.02	-8.9224	18.4109	0.90550	0.0:1.0:0.0:0.0	.	286;269;315	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	C	286;269	ENSP00000386284:W286C;ENSP00000277315:W269C	ENSP00000277315:W269C	W	-	3	0	ALAD	115191151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.216000	0.77974	2.688000	0.91661	0.655000	0.94253	TGG	.	.		0.612	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053724.3	NM_001003945	
ZBTB6	10773	hgsc.bcm.edu	37	9	125674263	125674263	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:125674263T>C	ENST00000373659.3	-	2	177	c.89A>G	c.(88-90)aAt>aGt	p.N30S		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	30					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(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ACAAAATAAATTCTGCTGTCT	0.388																																					p.N30S		Atlas-SNP	.											.	ZBTB6	32	.	0			c.A89G						.						104.0	113.0	110.0					9																	125674263		2203	4300	6503	SO:0001583	missense	10773	exon2			AATAAATTCTGCT	X82018	CCDS6846.1	9q33.1-q33.3	2013-01-08	2006-04-10	2006-04-10	ENSG00000186130	ENSG00000186130		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	16764	protein-coding gene	gene with protein product		605976	"""zinc finger protein 482"""	ZNF482		7958847	Standard	NM_006626		Approved	ZID	uc004bnh.4	Q15916	OTTHUMG00000020628	ENST00000373659.3:c.89A>G	chr9.hg19:g.125674263T>C	ENSP00000362763:p.Asn30Ser	96.0	0.0		241.0	33.0	NM_006626	A8K8N6	Missense_Mutation	SNP	ENST00000373659.3	hg19	CCDS6846.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.186360	0.57909	.	.	ENSG00000186130	ENST00000373659	T	0.70399	-0.48	6.17	6.17	0.99709	BTB/POZ (1);BTB/POZ fold (2);	0.141133	0.64402	D	0.000006	T	0.75554	0.3865	L	0.33710	1.025	0.36865	D	0.888606	D	0.53151	0.958	P	0.60012	0.867	T	0.80625	-0.1299	10	0.62326	D	0.03	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	30	Q15916	ZBTB6_HUMAN	S	30	ENSP00000362763:N30S	ENSP00000362763:N30S	N	-	2	0	ZBTB6	124714084	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.824000	0.55723	2.371000	0.80710	0.533000	0.62120	AAT	.	.		0.388	ZBTB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053962.1	NM_006626	
OLFML2A	169611	hgsc.bcm.edu	37	9	127561615	127561615	+	Missense_Mutation	SNP	C	C	A	rs533587628	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:127561615C>A	ENST00000373580.3	+	4	514	c.514C>A	c.(514-516)Cgc>Agc	p.R172S	OLFML2A_ENST00000288815.5_5'Flank	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	172					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)			endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GGACAGCGTGCGCCACCTCAG	0.597																																					p.R172S		Atlas-SNP	.											.	OLFML2A	61	.	0			c.C514A						.						45.0	51.0	49.0					9																	127561615		2157	4275	6432	SO:0001583	missense	169611	exon4			AGCGTGCGCCACC	AK092255	CCDS6857.2, CCDS65129.1	9q34.11	2008-02-05			ENSG00000185585	ENSG00000185585			27270	protein-coding gene	gene with protein product		615899				12477932	Standard	NM_001282715		Approved	FLJ00237	uc004bov.3	Q68BL7	OTTHUMG00000020663	ENST00000373580.3:c.514C>A	chr9.hg19:g.127561615C>A	ENSP00000362682:p.Arg172Ser	54.0	0.0		132.0	57.0	NM_182487	Q5JTM5|Q5JTM6|Q6UXW1|Q7Z5V3	Missense_Mutation	SNP	ENST00000373580.3	hg19	CCDS6857.2	.	.	.	.	.	.	.	.	.	.	C	12.18	1.861208	0.32884	.	.	ENSG00000185585	ENST00000331715;ENST00000425732;ENST00000373580	T;T	0.44083	0.93;0.93	5.67	3.76	0.43208	.	0.489979	0.22803	N	0.055449	T	0.31009	0.0783	L	0.44542	1.39	0.80722	D	1	P;B	0.36392	0.551;0.395	B;B	0.34489	0.184;0.062	T	0.03202	-1.1061	10	0.19147	T	0.46	.	10.8651	0.46851	0.1204:0.661:0.2186:0.0	.	136;172	Q5JTM7;Q68BL7	.;OLM2A_HUMAN	S	136;136;172	ENSP00000336425:R136S;ENSP00000362682:R172S	ENSP00000336425:R136S	R	+	1	0	OLFML2A	126601436	0.683000	0.27633	1.000000	0.80357	0.691000	0.40173	1.032000	0.30178	2.681000	0.91329	0.655000	0.94253	CGC	.	.		0.597	OLFML2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054046.2	NM_182487	
CDK9	1025	hgsc.bcm.edu	37	9	130550943	130550943	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:130550943G>T	ENST00000373264.4	+	6	825	c.725G>T	c.(724-726)aGt>aTt	p.S242I	CDK9_ENST00000373265.2_Missense_Mutation_p.S359I|MIR3960_ENST00000583311.1_RNA	NM_001261.3	NP_001252.1	P50750	CDK9_HUMAN	cyclin-dependent kinase 9	242	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|cellular response to cytokine stimulus (GO:0071345)|DNA repair (GO:0006281)|gene expression (GO:0010467)|negative regulation of cell cycle arrest (GO:0071157)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of DNA repair (GO:0006282)|regulation of histone modification (GO:0031056)|replication fork arrest (GO:0043111)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|positive transcription elongation factor complex b (GO:0008024)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA binding (GO:0003677)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)			lung(1)	1						GCCCTCATCAGTCAGCTCTGC	0.652																																					p.S242I		Atlas-SNP	.											.	CDK9	22	.	0			c.G725T						.						60.0	54.0	56.0					9																	130550943		2203	4300	6503	SO:0001583	missense	1025	exon6			TCATCAGTCAGCT	L25676	CCDS6879.1	9q34.1	2011-11-08	2007-11-21		ENSG00000136807	ENSG00000136807		"""Cyclin-dependent kinases"""	1780	protein-coding gene	gene with protein product		603251	"""cyclin-dependent kinase 9 (CDC2-related kinase)"""	CDC2L4		8170997, 9356449	Standard	NM_001261		Approved	PITALRE, C-2k, TAK	uc004bse.2	P50750	OTTHUMG00000020715	ENST00000373264.4:c.725G>T	chr9.hg19:g.130550943G>T	ENSP00000362361:p.Ser242Ile	95.0	0.0		404.0	96.0	NM_001261	Q5JU24|Q5JU25|Q5U006|Q96TF1	Missense_Mutation	SNP	ENST00000373264.4	hg19	CCDS6879.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877895	0.72294	.	.	ENSG00000136807	ENST00000373265;ENST00000373264	T;T	0.40225	1.04;1.04	5.13	5.13	0.70059	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	T	0.40423	0.1116	N	0.04508	-0.205	0.80722	D	1	D	0.56521	0.976	D	0.65323	0.934	T	0.44711	-0.9310	10	0.22109	T	0.4	-13.7553	17.5564	0.87890	0.0:0.0:1.0:0.0	.	242	P50750	CDK9_HUMAN	I	359;242	ENSP00000362362:S359I;ENSP00000362361:S242I	ENSP00000362361:S242I	S	+	2	0	CDK9	129590764	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.571000	0.98176	2.385000	0.81259	0.491000	0.48974	AGT	.	.		0.652	CDK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054235.1		
ODF2	4957	hgsc.bcm.edu	37	9	131256871	131256871	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:131256871A>C	ENST00000434106.3	+	17	2198	c.1835A>C	c.(1834-1836)gAg>gCg	p.E612A	ODF2_ENST00000444119.2_Missense_Mutation_p.E588A|ODF2_ENST00000448249.3_Missense_Mutation_p.E531A|ODF2_ENST00000393533.2_Missense_Mutation_p.E612A|ODF2_ENST00000393527.3_Missense_Mutation_p.E588A|ODF2_ENST00000546203.1_Missense_Mutation_p.E593A|ODF2_ENST00000372791.3_Missense_Mutation_p.E593A|ODF2_ENST00000372807.5_Missense_Mutation_p.E607A|ODF2_ENST00000372814.3_Missense_Mutation_p.E656A|ODF2_ENST00000604420.1_Missense_Mutation_p.E612A|ODF2_ENST00000351030.3_Missense_Mutation_p.E607A	NM_153433.1	NP_702911.1	Q5BJF6	ODFP2_HUMAN	outer dense fiber of sperm tails 2	612					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|regulation of cilium assembly (GO:1902017)|spermatid development (GO:0007286)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)|primary cilium (GO:0072372)	Rab GTPase binding (GO:0017137)|structural molecule activity (GO:0005198)	p.E588G(1)|p.E656G(1)|p.E612G(1)		autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AAGCTGGCTGAGTGCCAAGAC	0.577																																					p.E676A		Atlas-SNP	.											ODF2_ENST00000372814,NS,carcinoma,0,2	ODF2	227	.	3	Substitution - Missense(3)	kidney(3)	c.A2027C						.						75.0	65.0	68.0					9																	131256871		2203	4300	6503	SO:0001583	missense	4957	exon17			TGGCTGAGTGCCA	AF012549	CCDS6902.1, CCDS56585.1, CCDS56586.1, CCDS56587.1, CCDS56588.1, CCDS56589.1, CCDS56590.1	9q34	2010-04-23	2002-10-21		ENSG00000136811	ENSG00000136811			8114	protein-coding gene	gene with protein product	"""cancer/testis antigen 134"""	602015	"""outer dense fibre of sperm tails 2"""			9045620, 10072582	Standard	NM_153435		Approved	ODF84, CT134	uc004bvc.3	Q5BJF6	OTTHUMG00000020748	ENST00000434106.3:c.1835A>C	chr9.hg19:g.131256871A>C	ENSP00000403453:p.Glu612Ala	58.0	0.0		153.0	26.0	NM_153435	B1AND3|B4DRK4|B4DX73|B4DZ02|E7EWL2|F5H6J4|O14721|O60631|Q1W2J6|Q6UN26|Q7Z5I6|Q96FN2	Missense_Mutation	SNP	ENST00000434106.3	hg19	CCDS56588.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.107982	0.77096	.	.	ENSG00000136811	ENST00000393533;ENST00000372814;ENST00000351030;ENST00000372796;ENST00000303890;ENST00000448249;ENST00000546203;ENST00000372791	T;D;D;D;D;D;T;T	0.86956	1.05;-2.19;-1.97;-1.97;-1.97;-2.19;1.09;1.1	5.4	5.4	0.78164	.	0.048281	0.85682	D	0.000000	D	0.91680	0.7370	M	0.73217	2.22	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.972;0.998;0.873;0.978;0.972;0.999;0.999	P;D;B;P;P;D;D	0.68192	0.673;0.921;0.356;0.814;0.673;0.956;0.921	D	0.91885	0.5519	10	0.56958	D	0.05	-27.7591	11.069	0.47993	0.8614:0.0:0.0:0.1386	.	593;607;531;612;593;612;588	Q5BJF6-8;Q5BJF6-4;Q5BJF6-9;B4DX73;Q5BJF6-5;Q5BJF6;Q5BJF6-3	.;.;.;.;.;ODFP2_HUMAN;.	A	612;656;607;612;588;531;593;593	ENSP00000377166:E612A;ENSP00000361901:E656A;ENSP00000342581:E607A;ENSP00000361882:E612A;ENSP00000307781:E588A;ENSP00000396687:E531A;ENSP00000437579:E593A;ENSP00000361877:E593A	ENSP00000307781:E588A	E	+	2	0	ODF2	130296692	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.478000	0.60230	2.047000	0.60756	0.459000	0.35465	GAG	.	.		0.577	ODF2-011	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054449.3		
PPP2R4	5524	hgsc.bcm.edu	37	9	131909700	131909700	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:131909700A>G	ENST00000337738.1	+	11	1301	c.1034A>G	c.(1033-1035)aAg>aGg	p.K345R	PPP2R4_ENST00000419582.1_Missense_Mutation_p.K48R|PPP2R4_ENST00000423100.1_Missense_Mutation_p.K48R|PPP2R4_ENST00000357197.4_Missense_Mutation_p.K281R|PPP2R4_ENST00000414510.1_Missense_Mutation_p.K48R|PPP2R4_ENST00000393370.2_Missense_Mutation_p.K310R|PPP2R4_ENST00000434095.1_Missense_Mutation_p.K48R|PPP2R4_ENST00000347048.4_Missense_Mutation_p.K91R|PPP2R4_ENST00000358994.4_Missense_Mutation_p.K310R|PPP2R4_ENST00000355007.3_Missense_Mutation_p.K268R|PPP2R4_ENST00000432651.1_Missense_Mutation_p.K48R|PPP2R4_ENST00000348141.5_Missense_Mutation_p.K316R|PPP2R4_ENST00000435132.1_Missense_Mutation_p.K48R	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	345					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CAGCACTTCAAGTTCGGGAGC	0.632																																					p.K345R	Colon(158;2158 2504 4450 20433)	Atlas-SNP	.											.	PPP2R4	32	.	0			c.A1034G						.						90.0	71.0	78.0					9																	131909700		2203	4300	6503	SO:0001583	missense	5524	exon11			ACTTCAAGTTCGG	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.1034A>G	chr9.hg19:g.131909700A>G	ENSP00000337448:p.Lys345Arg	26.0	0.0		76.0	24.0	NM_178001	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	hg19		.	.	.	.	.	.	.	.	.	.	A	13.87	2.365001	0.41902	.	.	ENSG00000119383	ENST00000358994;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000347048;ENST00000357197;ENST00000355007;ENST00000423100;ENST00000414510;ENST00000419582;ENST00000432651;ENST00000435132;ENST00000434095	T;T;T;T;T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.16	4.02	0.46733	.	0.045098	0.85682	D	0.000000	T	0.19765	0.0475	N	0.17248	0.465	0.80722	D	1	B;B;B;B;B	0.15473	0.0;0.013;0.001;0.001;0.001	B;B;B;B;B	0.28465	0.005;0.09;0.004;0.012;0.002	T	0.05305	-1.0893	10	0.25106	T	0.35	.	9.9436	0.41596	0.9199:0.0:0.0801:0.0	.	281;91;268;345;310	Q15257-3;Q68CR8;Q15257-4;Q15257;Q15257-2	.;.;.;PTPA_HUMAN;.	R	310;310;345;316;91;281;268;48;48;48;48;48;48	ENSP00000351885:K310R;ENSP00000377036:K310R;ENSP00000337448:K345R;ENSP00000335200:K316R;ENSP00000337412:K91R;ENSP00000349726:K281R;ENSP00000347109:K268R;ENSP00000408316:K48R;ENSP00000408726:K48R;ENSP00000394001:K48R;ENSP00000416661:K48R;ENSP00000387726:K48R;ENSP00000411604:K48R	ENSP00000337448:K345R	K	+	2	0	PPP2R4	130949521	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.960000	0.76036	0.812000	0.34326	0.459000	0.35465	AAG	.	.		0.632	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131	
PPP2R4	5524	hgsc.bcm.edu	37	9	131909703	131909703	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:131909703T>C	ENST00000337738.1	+	11	1304	c.1037T>C	c.(1036-1038)tTc>tCc	p.F346S	PPP2R4_ENST00000419582.1_Missense_Mutation_p.F49S|PPP2R4_ENST00000423100.1_Missense_Mutation_p.F49S|PPP2R4_ENST00000357197.4_Missense_Mutation_p.F282S|PPP2R4_ENST00000414510.1_Missense_Mutation_p.F49S|PPP2R4_ENST00000393370.2_Missense_Mutation_p.F311S|PPP2R4_ENST00000434095.1_Missense_Mutation_p.F49S|PPP2R4_ENST00000347048.4_Missense_Mutation_p.F92S|PPP2R4_ENST00000358994.4_Missense_Mutation_p.F311S|PPP2R4_ENST00000355007.3_Missense_Mutation_p.F269S|PPP2R4_ENST00000432651.1_Missense_Mutation_p.F49S|PPP2R4_ENST00000348141.5_Missense_Mutation_p.F317S|PPP2R4_ENST00000435132.1_Missense_Mutation_p.F49S	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	346					ATP catabolic process (GO:0006200)|mitotic spindle organization in nucleus (GO:0030472)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of protein dephosphorylation (GO:0035308)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein dephosphorylation (GO:0035307)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of phosphoprotein phosphatase activity (GO:0043666)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	ATP binding (GO:0005524)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein tyrosine phosphatase activator activity (GO:0008160)|receptor binding (GO:0005102)			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		CACTTCAAGTTCGGGAGCCTG	0.637																																					p.F346S	Colon(158;2158 2504 4450 20433)	Atlas-SNP	.											.	PPP2R4	32	.	0			c.T1037C						.						89.0	70.0	76.0					9																	131909703		2203	4300	6503	SO:0001583	missense	5524	exon11			TCAAGTTCGGGAG	X73478	CCDS6920.1, CCDS65156.1, CCDS75917.1	9q34	2010-06-18	2007-01-22		ENSG00000119383	ENSG00000119383		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9308	protein-coding gene	gene with protein product	"""phosphotyrosyl phosphatase activator"", ""PP2A phosphatase activator"""	600756	"""protein phosphatase 2A, regulatory subunit B' (PR 53)"""			8530035	Standard	NM_021131		Approved	PTPA, PR53	uc004bxm.2	Q15257	OTTHUMG00000020774	ENST00000337738.1:c.1037T>C	chr9.hg19:g.131909703T>C	ENSP00000337448:p.Phe346Ser	25.0	0.0		74.0	25.0	NM_178001	A2A347|A9IZU4|B4DXM4|Q15258|Q53GZ3|Q5TZQ2|Q9BUK1|Q9NNZ7|Q9NNZ8|Q9NNZ9	Missense_Mutation	SNP	ENST00000337738.1	hg19		.	.	.	.	.	.	.	.	.	.	T	33	5.231764	0.95207	.	.	ENSG00000119383	ENST00000358994;ENST00000393370;ENST00000337738;ENST00000348141;ENST00000347048;ENST00000357197;ENST00000355007;ENST00000423100;ENST00000414510;ENST00000419582;ENST00000432651;ENST00000435132;ENST00000434095	T;T;T;T;T;T;T;T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;1.04;0.73;0.73;1.04;1.04;1.04;1.04;1.04;1.04	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.78566	0.4303	H	0.96861	3.895	0.80722	D	1	P;D;P;D;D	0.89917	0.892;0.999;0.938;0.997;1.0	P;D;P;D;D	0.81914	0.883;0.986;0.851;0.992;0.995	D	0.86023	0.1508	10	0.87932	D	0	.	14.1769	0.65546	0.0:0.0:0.0:1.0	.	282;92;269;346;311	Q15257-3;Q68CR8;Q15257-4;Q15257;Q15257-2	.;.;.;PTPA_HUMAN;.	S	311;311;346;317;92;282;269;49;49;49;49;49;49	ENSP00000351885:F311S;ENSP00000377036:F311S;ENSP00000337448:F346S;ENSP00000335200:F317S;ENSP00000337412:F92S;ENSP00000349726:F282S;ENSP00000347109:F269S;ENSP00000408316:F49S;ENSP00000408726:F49S;ENSP00000394001:F49S;ENSP00000416661:F49S;ENSP00000387726:F49S;ENSP00000411604:F49S	ENSP00000337448:F346S	F	+	2	0	PPP2R4	130949524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.539000	0.82063	1.944000	0.56390	0.459000	0.35465	TTC	.	.		0.637	PPP2R4-201	KNOWN	basic	protein_coding	protein_coding		NM_021131	
STKLD1	169436	hgsc.bcm.edu	37	9	136269044	136269044	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:136269044G>T	ENST00000371957.3	+	16	1711	c.1604G>T	c.(1603-1605)gGc>gTc	p.G535V	C9orf96_ENST00000371955.1_Splice_Site_p.G68V	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		535							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTTTCTGCAGGCTGCATCAAG	0.667																																					p.G535V		Atlas-SNP	.											.	C9orf96	77	.	0			c.G1604T						.						39.0	43.0	42.0					9																	136269044		2203	4300	6503	SO:0001630	splice_region_variant	169436	exon16			CTGCAGGCTGCAT																												ENST00000371957.3:c.1604-1G>T	chr9.hg19:g.136269044G>T		22.0	0.0		93.0	12.0	NM_153710	Q5T8U8|Q6ZMP6|Q6ZMQ5	Missense_Mutation	SNP	ENST00000371957.3	hg19	CCDS35169.1	.	.	.	.	.	.	.	.	.	.	G	16.08	3.021670	0.54576	.	.	ENSG00000198870	ENST00000371957;ENST00000371955	T;T	0.51071	0.72;0.76	5.13	4.23	0.50019	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.63780	0.2540	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.63256	-0.6678	9	.	.	.	.	12.6603	0.56809	0.0803:0.0:0.9197:0.0	.	535	Q8NE28	SGK71_HUMAN	V	535;68	ENSP00000361025:G535V;ENSP00000361023:G68V	.	G	+	2	0	C9orf96	135258865	1.000000	0.71417	1.000000	0.80357	0.301000	0.27625	5.846000	0.69444	1.134000	0.42165	0.561000	0.74099	GGC	.	.		0.667	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054855.1		Missense_Mutation
RXRA	6256	hgsc.bcm.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:137328351C>T	ENST00000481739.1	+	10	1332	c.1280C>T	c.(1279-1281)tCc>tTc	p.S427F	RXRA_ENST00000540193.1_Missense_Mutation_p.S330F|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GCTCTGCGCTCCATCGGGCTC	0.607																																					p.S427F		Atlas-SNP	.											RXRA,bladder,carcinoma,0,5	RXRA	52	.	0			c.C1280T						.						132.0	117.0	122.0					9																	137328351		2203	4300	6503	SO:0001583	missense	6256	exon10			TGCGCTCCATCGG	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1280C>T	chr9.hg19:g.137328351C>T	ENSP00000419692:p.Ser427Phe	46.0	0.0		134.0	9.0	NM_002957	B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	hg19	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.825420	0.90955	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	D;D	0.96940	-4.18;-4.18	4.76	4.76	0.60689	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.98369	0.9458	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.7817	0.88526	0.0:1.0:0.0:0.0	.	427	P19793	RXRA_HUMAN	F	427;330	ENSP00000419692:S427F;ENSP00000442123:S330F	ENSP00000419692:S427F	S	+	2	0	RXRA	136468172	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.532000	0.81985	2.193000	0.70182	0.591000	0.81541	TCC	.	.		0.607	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957	
CACNA1B	774	hgsc.bcm.edu	37	9	140880982	140880982	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr9:140880982G>T	ENST00000371372.1	+	14	2032	c.1887G>T	c.(1885-1887)caG>caT	p.Q629H	CACNA1B_ENST00000277551.2_Missense_Mutation_p.Q629H|CACNA1B_ENST00000371355.4_Missense_Mutation_p.Q630H|CACNA1B_ENST00000371357.1_Missense_Mutation_p.Q630H|CACNA1B_ENST00000371363.1_Missense_Mutation_p.Q629H|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	629					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGGGATGCAGCTGTTTGGGG	0.612																																					p.Q629H		Atlas-SNP	.											.	CACNA1B	266	.	0			c.G1887T						.						47.0	49.0	49.0					9																	140880982		2080	4229	6309	SO:0001583	missense	774	exon14			GATGCAGCTGTTT	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.1887G>T	chr9.hg19:g.140880982G>T	ENSP00000360423:p.Gln629His	99.0	0.0		187.0	22.0	NM_001243812	B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	hg19	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221756	0.58560	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.98996	-5.31;-5.31;-5.31;-5.31;-5.31	4.35	3.44	0.39384	.	0.000000	0.85682	D	0.000000	D	0.99205	0.9724	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.99486	1.0949	10	0.87932	D	0	.	12.7997	0.57578	0.0816:0.0:0.9184:0.0	.	629;629	B1AQK4;B1AQK6	.;.	H	629;629;629;630;630	ENSP00000360423:Q629H;ENSP00000277551:Q629H;ENSP00000360414:Q629H;ENSP00000360408:Q630H;ENSP00000360406:Q630H	ENSP00000277551:Q629H	Q	+	3	2	CACNA1B	140000803	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.487000	0.60293	0.913000	0.36797	0.462000	0.41574	CAG	.	.		0.612	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
DIP2C	22982	hgsc.bcm.edu	37	10	390969	390969	+	Missense_Mutation	SNP	C	C	A	rs200340134		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:390969C>A	ENST00000280886.6	-	27	3400	c.3313G>T	c.(3313-3315)Gtc>Ttc	p.V1105F		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1105						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACGTCCTGACGTCCACAGCC	0.592																																					p.V1105F		Atlas-SNP	.											.	DIP2C	195	.	0			c.G3313T						.						72.0	59.0	63.0					10																	390969		2203	4300	6503	SO:0001583	missense	22982	exon27			TCCTGACGTCCAC	BC035216	CCDS7054.1	10p15.3	2006-01-13	2006-01-13	2006-01-13	ENSG00000151240	ENSG00000151240			29150	protein-coding gene	gene with protein product		611380	"""KIAA0934"""	KIAA0934			Standard	NM_014974		Approved		uc001ifp.3	Q9Y2E4	OTTHUMG00000017532	ENST00000280886.6:c.3313G>T	chr10.hg19:g.390969C>A	ENSP00000280886:p.Val1105Phe	22.0	0.0		68.0	4.0	NM_014974	B4DPI5|Q5SS78	Missense_Mutation	SNP	ENST00000280886.6	hg19	CCDS7054.1	.	.	.	.	.	.	.	.	.	.	C	8.495	0.862866	0.17178	.	.	ENSG00000151240	ENST00000280886;ENST00000535541	T	0.10668	2.85	5.59	4.69	0.59074	AMP-dependent synthetase/ligase (1);	0.188095	0.46145	D	0.000316	T	0.08670	0.0215	N	0.25380	0.74	0.80722	D	1	B	0.13594	0.008	B	0.28305	0.088	T	0.25572	-1.0128	10	0.23891	T	0.37	-31.7464	9.4456	0.38695	0.0:0.7807:0.0:0.2193	.	1105	Q9Y2E4	DIP2C_HUMAN	F	1105;30	ENSP00000280886:V1105F	ENSP00000280886:V1105F	V	-	1	0	DIP2C	380969	0.006000	0.16342	0.885000	0.34714	0.399000	0.30720	0.029000	0.13666	1.368000	0.46115	0.655000	0.94253	GTC	.	C|1.000;T|0.000		0.592	DIP2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046389.1	NM_014974	
PITRM1	10531	hgsc.bcm.edu	37	10	3201169	3201169	+	Missense_Mutation	SNP	T	T	C	rs373184654		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:3201169T>C	ENST00000224949.4	-	10	1107	c.1073A>G	c.(1072-1074)aAt>aGt	p.N358S	PITRM1_ENST00000380994.1_5'Flank|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000451104.2_Missense_Mutation_p.N326S|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.N358S			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	358					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AAAGGGAGAATTGGGCCCAGA	0.413																																					p.N358S		Atlas-SNP	.											.	PITRM1	109	.	0			c.A1073G						.	T	SER/ASN,SER/ASN,SER/ASN	0,3788		0,0,1894	87.0	82.0	84.0		1073,977,1073	4.7	1.0	10		84	1,8225		0,1,4112	no	missense,missense,missense	PITRM1	NM_001242307.1,NM_001242309.1,NM_014889.3	46,46,46	0,1,6006	CC,CT,TT		0.0122,0.0,0.0083	possibly-damaging,possibly-damaging,possibly-damaging	358/1039,326/940,358/1038	3201169	1,12013	1894	4113	6007	SO:0001583	missense	10531	exon10			GGAGAATTGGGCC	AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.1073A>G	chr10.hg19:g.3201169T>C	ENSP00000224949:p.Asn358Ser	107.0	0.0		230.0	73.0	NM_014889	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	hg19	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	t	18.72	3.684170	0.68157	0.0	1.22E-4	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.07216	3.21;3.21;3.21	5.81	4.67	0.58626	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	N	0.20807	0.61	0.53005	D	0.999962	B;B;P;P;P;P	0.40834	0.121;0.226;0.73;0.654;0.654;0.654	B;B;B;B;B;B	0.43783	0.019;0.326;0.305;0.431;0.431;0.431	T	0.39035	-0.9633	10	0.35671	T	0.21	-35.4887	11.8314	0.52297	0.0:0.0685:0.0:0.9315	.	351;326;358;358;358;351	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	S	358;351;358;326	ENSP00000224949:N358S;ENSP00000370377:N358S;ENSP00000401201:N326S	ENSP00000224949:N358S	N	-	2	0	PITRM1	3191169	1.000000	0.71417	0.989000	0.46669	0.745000	0.42441	4.492000	0.60334	1.021000	0.39600	0.528000	0.53228	AAT	.	.		0.413	PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
MCM10	55388	hgsc.bcm.edu	37	10	13239672	13239672	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:13239672C>T	ENST00000484800.2	+	15	2130	c.2027C>T	c.(2026-2028)aCa>aTa	p.T676I	MCM10_ENST00000378694.1_Missense_Mutation_p.T675I|MCM10_ENST00000378714.3_Missense_Mutation_p.T675I			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	676					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTTACAAAAACAAACCCAAAC	0.408																																					p.T676I		Atlas-SNP	.											.	MCM10	76	.	0			c.C2027T						.						95.0	88.0	90.0					10																	13239672		2203	4300	6503	SO:0001583	missense	55388	exon15			CAAAAACAAACCC	AB042719	CCDS7095.1, CCDS7096.1	10p13	2008-08-01	2007-04-04		ENSG00000065328	ENSG00000065328			18043	protein-coding gene	gene with protein product		609357	"""MCM10 minichromosome maintenance deficient 10 (S. cerevisiae)"""			11095689, 17699597	Standard	NM_018518		Approved	PRO2249, CNA43, DNA43	uc001ima.3	Q7L590	OTTHUMG00000017694	ENST00000484800.2:c.2027C>T	chr10.hg19:g.13239672C>T	ENSP00000418268:p.Thr676Ile	81.0	0.0		151.0	16.0	NM_182751	A8K9I6|B7ZKZ8|Q3MIR3|Q7LD55|Q96GX4|Q96NB6|Q9H0D7|Q9H3P9|Q9P177	Missense_Mutation	SNP	ENST00000484800.2	hg19	CCDS7096.1	.	.	.	.	.	.	.	.	.	.	C	8.838	0.941562	0.18281	.	.	ENSG00000065328	ENST00000378714;ENST00000361282;ENST00000484800;ENST00000378694	T;T;T	0.29655	1.56;1.56;1.56	5.23	2.32	0.28847	Replication factor Mcm10 (1);	0.398558	0.30859	N	0.008728	T	0.19167	0.0460	L	0.34521	1.04	0.26907	N	0.966989	B;B;B	0.12630	0.006;0.004;0.005	B;B;B	0.17098	0.017;0.004;0.007	T	0.14671	-1.0464	10	0.40728	T	0.16	0.2019	4.1158	0.10081	0.1306:0.5994:0.1265:0.1435	.	675;675;676	Q5T670;Q7L590-2;Q7L590	.;.;MCM10_HUMAN	I	675;676;676;675	ENSP00000367986:T675I;ENSP00000418268:T676I;ENSP00000367966:T675I	ENSP00000354945:T676I	T	+	2	0	MCM10	13279678	0.807000	0.29009	0.994000	0.49952	0.761000	0.43186	0.511000	0.22739	0.283000	0.22279	0.655000	0.94253	ACA	.	.		0.408	MCM10-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356853.1	NM_182751	
MASTL	84930	hgsc.bcm.edu	37	10	27459955	27459955	+	Silent	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:27459955T>G	ENST00000375940.4	+	8	2124	c.2067T>G	c.(2065-2067)ggT>ggG	p.G689G	MASTL_ENST00000375946.4_Silent_p.G689G|MASTL_ENST00000342386.6_Silent_p.G689G|MASTL_ENST00000477034.1_3'UTR			Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	689	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to DNA damage stimulus (GO:0006974)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of protein phosphatase type 2A activity (GO:0034048)|regulation of cell cycle (GO:0051726)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|protein phosphatase 2A binding (GO:0051721)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTACAGTGGTTCATATCCCA	0.343																																					p.G689G		Atlas-SNP	.											.	MASTL	81	.	0			c.T2067G						.						115.0	119.0	118.0					10																	27459955		2203	4300	6503	SO:0001819	synonymous_variant	84930	exon8			CAGTGGTTCATAT	BC009107	CCDS7153.1, CCDS53502.1, CCDS53503.1	10p12.1	2005-11-03			ENSG00000120539	ENSG00000120539			19042	protein-coding gene	gene with protein product		608221					Standard	NM_001172303		Approved	FLJ14813, THC2	uc001itm.3	Q96GX5	OTTHUMG00000017855	ENST00000375940.4:c.2067T>G	chr10.hg19:g.27459955T>G		115.0	0.0		332.0	20.0	NM_032844	Q5T8D5|Q5T8D7|Q8NCD6|Q96SJ5	Silent	SNP	ENST00000375940.4	hg19	CCDS53502.1																																																																																			.	.		0.343	MASTL-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047320.1	NM_032844	
ASAH2	56624	hgsc.bcm.edu	37	10	52008360	52008360	+	Missense_Mutation	SNP	C	C	T	rs376205298		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:52008360C>T	ENST00000395526.4	-	1	10	c.11G>A	c.(10-12)cGc>cAc	p.R4H	ASAH2_ENST00000447815.1_Missense_Mutation_p.R4H|ASAH2_ENST00000329428.6_5'Flank	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2	4					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ceramidase activity (GO:0017040)			large_intestine(1)|lung(9)|urinary_tract(1)	11						AGAGAAGGTGCGTTTGGCCAT	0.438																																					p.R4H		Atlas-SNP	.											.	ASAH2	69	.	0			c.G11A						.	C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	94.0	91.0	92.0		11,11	4.1	0.9	10		92	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ASAH2	NM_001143974.1,NM_019893.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	4/746,4/781	52008360	1,13005	2203	4300	6503	SO:0001583	missense	56624	exon1			AAGGTGCGTTTGG	AF250847	CCDS7239.2, CCDS44398.1	10q11.23	2008-08-11			ENSG00000188611	ENSG00000188611			18860	protein-coding gene	gene with protein product		611202				10781606	Standard	NM_019893		Approved		uc001jjd.3	Q9NR71	OTTHUMG00000018223	ENST00000395526.4:c.11G>A	chr10.hg19:g.52008360C>T	ENSP00000378897:p.Arg4His	63.0	0.0		162.0	7.0	NM_019893	Q3KNU1|Q5SNT7|Q5SZP6|Q5SZP7|Q5T1D5|Q71ME6	Missense_Mutation	SNP	ENST00000395526.4	hg19	CCDS7239.2	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346638	0.41599	0.0	1.16E-4	ENSG00000188611	ENST00000395526;ENST00000447815	T;T	0.34859	1.38;1.34	5.94	4.1	0.47936	.	0.271361	0.30593	U	0.009284	T	0.26122	0.0637	L	0.31926	0.97	0.58432	D	0.999999	B;B	0.21821	0.061;0.036	B;B	0.13407	0.009;0.004	T	0.04307	-1.0961	10	0.40728	T	0.16	.	9.5095	0.39067	0.0:0.8371:0.0:0.1629	.	4;4	Q9NR71-2;Q9NR71	.;ASAH2_HUMAN	H	4	ENSP00000378897:R4H;ENSP00000388206:R4H	ENSP00000378897:R4H	R	-	2	0	ASAH2	51678366	0.002000	0.14202	0.876000	0.34364	0.987000	0.75469	0.461000	0.21940	0.852000	0.35287	0.563000	0.77884	CGC	.	.		0.438	ASAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048061.3	NM_019893	
ANK3	288	hgsc.bcm.edu	37	10	61835056	61835056	+	Silent	SNP	C	C	T	rs548657898	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:61835056C>T	ENST00000280772.2	-	37	5774	c.5583G>A	c.(5581-5583)acG>acA	p.T1861T	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1861	Ser-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GATGTGTCTCCGTAGTCAATG	0.423													C|||	2	0.000399361	0.0008	0.0	5008	,	,		21386	0.0		0.0	False		,,,				2504	0.001				p.T1861T		Atlas-SNP	.											.	ANK3	703	.	0			c.G5583A						.						154.0	135.0	141.0					10																	61835056		2203	4300	6503	SO:0001819	synonymous_variant	288	exon37			TGTCTCCGTAGTC	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.5583G>A	chr10.hg19:g.61835056C>T		90.0	0.0		175.0	57.0	NM_020987	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	hg19	CCDS7258.1																																																																																			.	.		0.423	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987	
EGR2	1959	hgsc.bcm.edu	37	10	64573581	64573581	+	Silent	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:64573581G>A	ENST00000242480.3	-	2	1142	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	EGR2_ENST00000439032.1_Silent_p.L273L|EGR2_ENST00000411732.1_Silent_p.L223L|EGR2_ENST00000493899.2_5'Flank	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	273					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGCCCCCCAGGGTAAAGTTA	0.677																																					p.L273L		Atlas-SNP	.											.	EGR2	77	.	0			c.C817T						.						21.0	26.0	24.0					10																	64573581		2188	4268	6456	SO:0001819	synonymous_variant	1959	exon2			CCCCCAGGGTAAA	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.817C>T	chr10.hg19:g.64573581G>A		31.0	0.0		50.0	22.0	NM_000399	B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Silent	SNP	ENST00000242480.3	hg19	CCDS7267.1																																																																																			.	.		0.677	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399	
WAPAL	23063	hgsc.bcm.edu	37	10	88206050	88206050	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:88206050C>T	ENST00000298767.5	-	16	3743	c.3271G>A	c.(3271-3273)Gaa>Aaa	p.E1091K	WAPAL_ENST00000372075.1_Missense_Mutation_p.E303K|WAPAL_ENST00000263070.7_Missense_Mutation_p.E303K|WAPAL_ENST00000484070.1_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1091	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TGTTTCTCTTCTGTACCATCA	0.388																																					p.E1091K		Atlas-SNP	.											.	WAPAL	81	.	0			c.G3271A						.						186.0	185.0	186.0					10																	88206050		2203	4300	6503	SO:0001583	missense	23063	exon16			TCTCTTCTGTACC	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.3271G>A	chr10.hg19:g.88206050C>T	ENSP00000298767:p.Glu1091Lys	107.0	0.0		253.0	43.0	NM_015045	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	hg19	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300015	0.60195	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T;T;T	0.36520	1.25;1.25;1.25	5.51	5.51	0.81932	Armadillo-type fold (1);	0.269247	0.36628	N	0.002493	T	0.37489	0.1005	L	0.48642	1.525	0.54753	D	0.999989	P;B;P;B	0.37864	0.61;0.06;0.61;0.447	B;B;B;B	0.40982	0.345;0.018;0.345;0.168	T	0.06899	-1.0801	10	0.13853	T	0.58	.	19.4394	0.94811	0.0:1.0:0.0:0.0	.	1085;1129;1091;1128	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	K	1176;1091;1176;303;303	ENSP00000298767:E1091K;ENSP00000361145:E303K;ENSP00000263070:E303K	ENSP00000263070:E303K	E	-	1	0	WAPAL	88196030	1.000000	0.71417	0.984000	0.44739	0.994000	0.84299	3.385000	0.52485	2.581000	0.87130	0.655000	0.94253	GAA	.	.		0.388	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045	
HTR7	3363	hgsc.bcm.edu	37	10	92508782	92508782	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:92508782A>T	ENST00000336152.3	-	2	1135	c.1109T>A	c.(1108-1110)cTg>cAg	p.L370Q	HTR7_ENST00000277874.6_Missense_Mutation_p.L370Q|HTR7_ENST00000371719.2_Missense_Mutation_p.L370Q|HTR7_ENST00000371721.3_Missense_Mutation_p.L370Q	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	370					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GCCTAGCCACAGAAATGTCCT	0.537																																					p.L370Q		Atlas-SNP	.											.	HTR7	122	.	0			c.T1109A						.						115.0	115.0	115.0					10																	92508782		2203	4300	6503	SO:0001583	missense	3363	exon2			AGCCACAGAAATG	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1109T>A	chr10.hg19:g.92508782A>T	ENSP00000337949:p.Leu370Gln	52.0	0.0		119.0	22.0	NM_019860	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	hg19	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880013	0.72294	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.33	5.33	0.75918	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.69433	0.3110	M	0.88979	2.995	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.74864	-0.3519	10	0.49607	T	0.09	.	15.2898	0.73857	1.0:0.0:0.0:0.0	.	370;370	P34969;P34969-2	5HT7R_HUMAN;.	Q	370	ENSP00000337949:L370Q;ENSP00000277874:L370Q;ENSP00000360784:L370Q;ENSP00000360786:L370Q	ENSP00000277874:L370Q	L	-	2	0	HTR7	92498762	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.302000	0.78861	2.011000	0.59026	0.528000	0.53228	CTG	.	.		0.537	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
HTR7	3363	hgsc.bcm.edu	37	10	92508894	92508894	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:92508894C>T	ENST00000336152.3	-	2	1023	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	HTR7_ENST00000277874.6_Missense_Mutation_p.V333I|HTR7_ENST00000371719.2_Missense_Mutation_p.V333I|HTR7_ENST00000371721.3_Missense_Mutation_p.V333I	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	333					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	AAGGCCCCGACGATGATCCCC	0.537																																					p.V333I		Atlas-SNP	.											.	HTR7	122	.	0			c.G997A						.						81.0	73.0	76.0					10																	92508894		2203	4300	6503	SO:0001583	missense	3363	exon2			CCCCGACGATGAT	BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.997G>A	chr10.hg19:g.92508894C>T	ENSP00000337949:p.Val333Ile	83.0	0.0		162.0	11.0	NM_019860	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	hg19	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301775	0.81136	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.82033	0.4949	L	0.50993	1.605	0.50467	D	0.999875	D;D	0.76494	0.999;0.996	P;P	0.60886	0.88;0.803	T	0.83054	-0.0151	10	0.59425	D	0.04	.	19.0553	0.93062	0.0:1.0:0.0:0.0	.	333;333	P34969;P34969-2	5HT7R_HUMAN;.	I	333	ENSP00000337949:V333I;ENSP00000277874:V333I;ENSP00000360784:V333I;ENSP00000360786:V333I	ENSP00000277874:V333I	V	-	1	0	HTR7	92498874	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.086000	0.71352	2.499000	0.84300	0.650000	0.86243	GTC	.	.		0.537	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1	NM_000872	
IDE	3416	hgsc.bcm.edu	37	10	94225544	94225544	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:94225544T>C	ENST00000265986.6	-	20	2433	c.2377A>G	c.(2377-2379)Ata>Gta	p.I793V	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Missense_Mutation_p.I238V	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	793					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TGGTAGTATATCTCGATGCCA	0.408																																					p.I793V		Atlas-SNP	.											.	IDE	77	.	0			c.A2377G						.						184.0	168.0	174.0					10																	94225544		2203	4300	6503	SO:0001583	missense	3416	exon20			AGTATATCTCGAT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.2377A>G	chr10.hg19:g.94225544T>C	ENSP00000265986:p.Ile793Val	116.0	0.0		345.0	19.0	NM_004969	B2R721|B7ZAU2|D3DR35|Q5T5N2	Missense_Mutation	SNP	ENST00000265986.6	hg19	CCDS7421.1	.	.	.	.	.	.	.	.	.	.	T	2.951	-0.216720	0.06101	.	.	ENSG00000119912	ENST00000265986;ENST00000371581	T;T	0.08193	3.12;3.12	6.02	6.02	0.97574	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.000000	0.85682	D	0.000000	T	0.03959	0.0111	N	0.02247	-0.625	0.80722	D	1	B;B	0.18013	0.008;0.025	B;B	0.25987	0.015;0.065	T	0.29088	-1.0023	10	0.02654	T	1	-16.6034	16.5494	0.84464	0.0:0.0:0.0:1.0	.	793;238	P14735;B3KSB8	IDE_HUMAN;.	V	793;238	ENSP00000265986:I793V;ENSP00000360637:I238V	ENSP00000265986:I793V	I	-	1	0	IDE	94215524	1.000000	0.71417	0.985000	0.45067	0.187000	0.23431	7.803000	0.85983	2.299000	0.77371	0.528000	0.53228	ATA	.	.		0.408	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969	
C10orf12	26148	hgsc.bcm.edu	37	10	98742351	98742351	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:98742351A>G	ENST00000286067.2	+	1	1311	c.1204A>G	c.(1204-1206)Atg>Gtg	p.M402V		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	402										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGTTCCCCAATGGGCTTGGA	0.517																																					p.M402V		Atlas-SNP	.											.	C10orf12	94	.	0			c.A1204G						.						86.0	97.0	93.0					10																	98742351		2203	4300	6503	SO:0001583	missense	26148	exon1			TCCCCAATGGGCT	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.1204A>G	chr10.hg19:g.98742351A>G	ENSP00000286067:p.Met402Val	26.0	0.0		42.0	15.0	NM_015652	Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	hg19	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.520045	0.00010	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.04360	3.64	5.92	-3.14	0.05250	.	1.164320	0.06741	N	0.778364	T	0.01765	0.0056	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48614	-0.9020	10	0.13108	T	0.6	0.0069	4.6888	0.12771	0.2855:0.0:0.3767:0.3378	.	236;402	A0PJI9;Q8N655	.;CJ012_HUMAN	V	402;236	ENSP00000286067:M402V	ENSP00000286067:M402V	M	+	1	0	C10orf12	98732341	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.071000	0.11505	-0.341000	0.08376	-1.184000	0.01707	ATG	.	.		0.517	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652	
AVPI1	60370	hgsc.bcm.edu	37	10	99437748	99437748	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:99437748G>C	ENST00000370626.3	-	3	889	c.322C>G	c.(322-324)Cag>Gag	p.Q108E		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	108					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTGGCACTCTGTGGGTTGGCC	0.522																																					p.Q108E		Atlas-SNP	.											.	AVPI1	16	.	0			c.C322G						.						86.0	80.0	82.0					10																	99437748		2203	4300	6503	SO:0001583	missense	60370	exon3			CACTCTGTGGGTT	AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.322C>G	chr10.hg19:g.99437748G>C	ENSP00000359660:p.Gln108Glu	50.0	0.0		97.0	42.0	NM_021732	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	ENST00000370626.3	hg19	CCDS7470.1	.	.	.	.	.	.	.	.	.	.	G	1.804	-0.476238	0.04414	.	.	ENSG00000119986	ENST00000370626	T	0.42513	0.97	5.12	2.21	0.28008	.	.	.	.	.	T	0.22003	0.0530	N	0.24115	0.695	0.09310	N	1	B	0.18166	0.026	B	0.13407	0.009	T	0.28870	-1.0030	9	0.02654	T	1	-2.1518	6.8938	0.24245	0.0913:0.3446:0.5642:0.0	.	108	Q5T686	AVPI1_HUMAN	E	108	ENSP00000359660:Q108E	ENSP00000359660:Q108E	Q	-	1	0	AVPI1	99427738	0.999000	0.42202	0.663000	0.29738	0.094000	0.18550	1.209000	0.32357	0.834000	0.34852	-0.175000	0.13238	CAG	.	.		0.522	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049736.1	NM_021732	
CPN1	1369	hgsc.bcm.edu	37	10	101802222	101802222	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:101802222C>T	ENST00000370418.3	-	9	1590	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	447					response to glucocorticoid (GO:0051384)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCTCCATTTCTTTCTTTCTG	0.552																																					p.E447K		Atlas-SNP	.											.	CPN1	62	.	0			c.G1339A						.						97.0	86.0	90.0					10																	101802222		2203	4300	6503	SO:0001583	missense	1369	exon9			CCATTTCTTTCTT	X14329	CCDS7486.1	10q24.2	2012-02-10	2007-02-23		ENSG00000120054	ENSG00000120054	3.4.17.3		2312	protein-coding gene	gene with protein product	"""anaphylatoxin inactivator"", ""arginine carboxypeptidase"", ""carboxypeptidase K"", ""kininase I"", ""lysine carboxypeptidase"""	603103	"""carboxypeptidase N, polypeptide 1, 50kD"""			9628828, 2912725	Standard	NM_001308		Approved		uc001kql.2	P15169	OTTHUMG00000018896	ENST00000370418.3:c.1339G>A	chr10.hg19:g.101802222C>T	ENSP00000359446:p.Glu447Lys	80.0	0.0		171.0	26.0	NM_001308	B1AP59	Missense_Mutation	SNP	ENST00000370418.3	hg19	CCDS7486.1	.	.	.	.	.	.	.	.	.	.	C	7.828	0.719197	0.15372	.	.	ENSG00000120054	ENST00000370418	T	0.16457	2.34	4.02	1.14	0.20703	.	.	.	.	.	T	0.06142	0.0159	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.14578	0.011	T	0.42310	-0.9459	9	0.07990	T	0.79	-13.8138	3.3415	0.07120	0.2046:0.5783:0.0:0.2171	.	447	P15169	CBPN_HUMAN	K	447	ENSP00000359446:E447K	ENSP00000359446:E447K	E	-	1	0	CPN1	101792212	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.022000	0.12480	0.252000	0.21531	-0.145000	0.13849	GAA	.	.		0.552	CPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049828.1	NM_001308	
CNNM2	54805	hgsc.bcm.edu	37	10	104679587	104679587	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:104679587G>A	ENST00000369878.4	+	1	1538	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	CNNM2_ENST00000369875.3_Missense_Mutation_p.M450I|CNNM2_ENST00000433628.2_Missense_Mutation_p.M450I	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	450	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		AGGACGTGATGACCCCACTCC	0.587																																					p.M450I		Atlas-SNP	.											.	CNNM2	119	.	0			c.G1350A						.						73.0	66.0	68.0					10																	104679587		2203	4300	6503	SO:0001583	missense	54805	exon1			CGTGATGACCCCA	AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1350G>A	chr10.hg19:g.104679587G>A	ENSP00000358894:p.Met450Ile	24.0	0.0		66.0	31.0	NM_199076	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	ENST00000369878.4	hg19	CCDS44474.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.128972	0.77549	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	D;D;D	0.81659	-1.52;-1.52;-1.52	4.81	4.81	0.61882	Cystathionine beta-synthase, core (1);	0.084446	0.85682	D	0.000000	D	0.93789	0.8014	H	0.98068	4.14	0.80722	D	1	B;B;D	0.65815	0.357;0.427;0.995	B;B;D	0.81914	0.343;0.186;0.995	D	0.96370	0.9273	10	0.87932	D	0	.	17.8745	0.88821	0.0:0.0:1.0:0.0	.	450;450;450	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	I	450	ENSP00000392875:M450I;ENSP00000358891:M450I;ENSP00000358894:M450I	ENSP00000286899:M450I	M	+	3	0	CNNM2	104669577	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.852000	0.99516	2.187000	0.69744	0.555000	0.69702	ATG	.	.		0.587	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050113.3	NM_017649	
SORCS3	22986	hgsc.bcm.edu	37	10	106959776	106959776	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:106959776C>T	ENST00000369701.3	+	15	2256	c.2029C>T	c.(2029-2031)Ctc>Ttc	p.L677F	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	677					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCACTTCAGCCTCCGCTCCGA	0.498																																					p.L677F	NSCLC(116;1497 1690 7108 13108 14106)	Atlas-SNP	.											.	SORCS3	282	.	0			c.C2029T						.						113.0	101.0	105.0					10																	106959776		2203	4300	6503	SO:0001583	missense	22986	exon15			TTCAGCCTCCGCT	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2029C>T	chr10.hg19:g.106959776C>T	ENSP00000358715:p.Leu677Phe	65.0	0.0		147.0	7.0	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.842417	0.51057	.	.	ENSG00000156395	ENST00000369701	T	0.29917	1.55	6.07	6.07	0.98685	VPS10 (1);	0.127920	0.53938	D	0.000043	T	0.28632	0.0709	L	0.34521	1.04	0.58432	D	0.999993	B	0.25563	0.129	B	0.26310	0.068	T	0.03773	-1.1005	9	.	.	.	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	677	Q9UPU3	SORC3_HUMAN	F	677	ENSP00000358715:L677F	.	L	+	1	0	SORCS3	106949766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.630000	0.67805	2.890000	0.99128	0.650000	0.86243	CTC	.	.		0.498	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
DCLRE1A	9937	hgsc.bcm.edu	37	10	115609989	115609989	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:115609989T>C	ENST00000361384.2	-	2	1792	c.875A>G	c.(874-876)gAc>gGc	p.D292G	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.D292G	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	292					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTCACTGAAGTCATTTTCTGG	0.368								Other identified genes with known or suspected DNA repair function																													p.D292G		Atlas-SNP	.											.	DCLRE1A	80	.	0			c.A875G						.						123.0	116.0	119.0					10																	115609989		2203	4300	6503	SO:0001583	missense	9937	exon2			CTGAAGTCATTTT		CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.875A>G	chr10.hg19:g.115609989T>C	ENSP00000355185:p.Asp292Gly	60.0	0.0		143.0	7.0	NM_014881	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Missense_Mutation	SNP	ENST00000361384.2	hg19	CCDS7584.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681545	0.47991	.	.	ENSG00000198924	ENST00000361384;ENST00000369305	T;T	0.72051	-0.62;-0.62	5.8	4.64	0.57946	.	0.218930	0.43416	N	0.000580	T	0.63307	0.2500	L	0.49126	1.545	0.35438	D	0.794648	B	0.30664	0.289	B	0.28784	0.094	T	0.68861	-0.5297	10	0.52906	T	0.07	-5.9362	10.7508	0.46209	0.0:0.0727:0.0:0.9273	.	292	Q6PJP8	DCR1A_HUMAN	G	292	ENSP00000355185:D292G;ENSP00000358311:D292G	ENSP00000355185:D292G	D	-	2	0	DCLRE1A	115599979	0.986000	0.35501	0.844000	0.33320	0.989000	0.77384	1.943000	0.40253	0.980000	0.38523	0.528000	0.53228	GAC	.	.		0.368	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050444.1	NM_014881	
KCNK18	338567	hgsc.bcm.edu	37	10	118960672	118960672	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:118960672G>A	ENST00000334549.1	+	2	226	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	76					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		TTCTCCAGTGGTGGAAGACAG	0.517																																					p.V76M		Atlas-SNP	.											.	KCNK18	70	.	0			c.G226A						.						169.0	169.0	169.0					10																	118960672		2203	4300	6503	SO:0001583	missense	338567	exon2			CCAGTGGTGGAAG	AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.226G>A	chr10.hg19:g.118960672G>A	ENSP00000334650:p.Val76Met	28.0	0.0		42.0	4.0	NM_181840	Q5SQQ8	Missense_Mutation	SNP	ENST00000334549.1	hg19	CCDS7598.1	.	.	.	.	.	.	.	.	.	.	G	8.195	0.796956	0.16327	.	.	ENSG00000186795	ENST00000334549	T	0.15372	2.43	4.34	1.2	0.21068	.	1.105970	0.06748	N	0.779507	T	0.09423	0.0232	N	0.14661	0.345	0.09310	N	1	B	0.14012	0.009	B	0.11329	0.006	T	0.37197	-0.9716	10	0.34782	T	0.22	.	3.2515	0.06816	0.2378:0.0:0.562:0.2002	.	76	Q7Z418	KCNKI_HUMAN	M	76	ENSP00000334650:V76M	ENSP00000334650:V76M	V	+	1	0	KCNK18	118950662	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.511000	0.22739	0.252000	0.21531	-0.140000	0.14226	GTG	.	.		0.517	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840	
CHST15	51363	hgsc.bcm.edu	37	10	125769678	125769678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:125769678C>T	ENST00000346248.5	-	8	2315	c.1673G>A	c.(1672-1674)tGg>tAg	p.W558*	CHST15_ENST00000435907.1_Nonsense_Mutation_p.W558*	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	558					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGTCGTCTTCCACGCAAACGC	0.562																																					p.W558X		Atlas-SNP	.											.	CHST15	134	.	0			c.G1673A						.						65.0	65.0	65.0					10																	125769678		2203	4300	6503	SO:0001587	stop_gained	51363	exon8			GTCTTCCACGCAA	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1673G>A	chr10.hg19:g.125769678C>T	ENSP00000333947:p.Trp558*	33.0	0.0		84.0	14.0	NM_015892	O60338|O60474|Q86VM4	Nonsense_Mutation	SNP	ENST00000346248.5	hg19	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	C	43	10.455762	0.99408	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.112	19.2238	0.93810	0.0:1.0:0.0:0.0	.	.	.	.	X	558	.	ENSP00000333947:W558X	W	-	2	0	CHST15	125759668	1.000000	0.71417	0.997000	0.53966	0.875000	0.50365	6.984000	0.76186	2.543000	0.85770	0.563000	0.77884	TGG	.	.		0.562	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892	
DOCK1	1793	hgsc.bcm.edu	37	10	128840966	128840966	+	Silent	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:128840966C>A	ENST00000280333.6	+	20	2134	c.2025C>A	c.(2023-2025)gtC>gtA	p.V675V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	675					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACACGTTAGTCTTTGATGCTC	0.498																																					p.V675V		Atlas-SNP	.											.	DOCK1	188	.	0			c.C2025A						.						188.0	187.0	187.0					10																	128840966		2091	4247	6338	SO:0001819	synonymous_variant	1793	exon20			GTTAGTCTTTGAT	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.2025C>A	chr10.hg19:g.128840966C>A		83.0	0.0		139.0	18.0	NM_001380	A9Z1Z5	Silent	SNP	ENST00000280333.6	hg19																																																																																				.	.		0.498	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380	
NLRP6	171389	hgsc.bcm.edu	37	11	281055	281055	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:281055G>C	ENST00000312165.5	+	4	1321	c.1321G>C	c.(1321-1323)Gac>Cac	p.D441H	NLRP6_ENST00000534750.1_Missense_Mutation_p.D441H	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	441	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GTTGCAGGGCGACCTGCGCAA	0.657																																					p.D441H		Atlas-SNP	.											.	NLRP6	4	.	0			c.G1321C						.						57.0	65.0	62.0					11																	281055		2202	4296	6498	SO:0001583	missense	171389	exon4			CAGGGCGACCTGC	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1321G>C	chr11.hg19:g.281055G>C	ENSP00000309767:p.Asp441His	27.0	0.0		61.0	7.0	NM_138329	A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	hg19	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	G	1.891	-0.455583	0.04540	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.75154	-0.91;-0.9	3.26	1.21	0.21127	NACHT nucleoside triphosphatase (1);	0.195037	0.25338	N	0.031390	T	0.49525	0.1562	N	0.04508	-0.205	0.09310	N	1	B;P	0.45240	0.007;0.854	B;B	0.43274	0.002;0.414	T	0.46638	-0.9177	10	0.30854	T	0.27	.	7.304	0.26436	0.0:0.186:0.6225:0.1915	.	441;441	E9PJZ8;P59044	.;NALP6_HUMAN	H	441	ENSP00000433617:D441H;ENSP00000309767:D441H	ENSP00000309767:D441H	D	+	1	0	NLRP6	271055	0.000000	0.05858	0.068000	0.19968	0.563000	0.35712	0.153000	0.16323	0.327000	0.23409	0.455000	0.32223	GAC	.	.		0.657	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329	
DCHS1	8642	hgsc.bcm.edu	37	11	6643329	6643329	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:6643329C>A	ENST00000299441.3	-	21	9989	c.9578G>T	c.(9577-9579)tGt>tTt	p.C3193F	TPP1_ENST00000299427.6_5'Flank|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'Flank|TPP1_ENST00000528657.1_5'Flank|RP11-732A19.5_ENST00000526456.1_RNA|TPP1_ENST00000534644.1_5'Flank	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	3193					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGGGGGACATGGCCGAGC	0.617																																					p.C3193F		Atlas-SNP	.											.	DCHS1	277	.	0			c.G9578T						.						43.0	49.0	47.0					11																	6643329		2201	4296	6497	SO:0001583	missense	8642	exon21			GGGGGACATGGCC	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.9578G>T	chr11.hg19:g.6643329C>A	ENSP00000299441:p.Cys3193Phe	38.0	0.0		95.0	19.0	NM_003737	O15098	Missense_Mutation	SNP	ENST00000299441.3	hg19	CCDS7771.1	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772134	0.16051	.	.	ENSG00000166341	ENST00000299441	T	0.53423	0.62	4.88	4.88	0.63580	.	0.000000	0.46145	D	0.000314	T	0.38268	0.1034	N	0.22421	0.69	0.34786	D	0.735252	D	0.56521	0.976	P	0.44518	0.452	T	0.48948	-0.8989	10	0.31617	T	0.26	.	16.7719	0.85539	0.0:1.0:0.0:0.0	.	3193	Q96JQ0	PCD16_HUMAN	F	3193	ENSP00000299441:C3193F	ENSP00000299441:C3193F	C	-	2	0	DCHS1	6599905	0.999000	0.42202	0.990000	0.47175	0.865000	0.49528	3.651000	0.54431	2.531000	0.85337	0.313000	0.20887	TGT	.	.		0.617	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737	
OR10A3	26496	hgsc.bcm.edu	37	11	7960259	7960259	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:7960259G>C	ENST00000360759.3	-	1	882	c.809C>G	c.(808-810)aCc>aGc	p.T270S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGTTTCTTGGTTTCGGGTGA	0.453																																					p.T270S		Atlas-SNP	.											.	OR10A3	54	.	0			c.C809G						.						197.0	179.0	185.0					11																	7960259		2201	4296	6497	SO:0001583	missense	26496	exon1			TTCTTGGTTTCGG	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.809C>G	chr11.hg19:g.7960259G>C	ENSP00000353988:p.Thr270Ser	117.0	0.0		370.0	33.0	NM_001003745	B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	hg19	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	G	0.429	-0.904393	0.02453	.	.	ENSG00000170683	ENST00000360759	T	0.00054	8.8	4.65	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.370076	0.19214	N	0.119853	T	0.00073	0.0002	N	0.04018	-0.295	0.09310	N	1	B	0.09022	0.002	B	0.21708	0.036	T	0.02437	-1.1159	10	0.09084	T	0.74	.	8.9595	0.35838	0.0:0.4598:0.3828:0.1574	.	270	P58181	O10A3_HUMAN	S	270	ENSP00000353988:T270S	ENSP00000353988:T270S	T	-	2	0	OR10A3	7916835	0.000000	0.05858	0.998000	0.56505	0.501000	0.33797	0.019000	0.13444	0.671000	0.31185	-0.234000	0.12200	ACC	.	.		0.453	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745	
TRIM66	9866	hgsc.bcm.edu	37	11	8662311	8662311	+	Silent	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:8662311G>T	ENST00000299550.6	-	9	1370	c.1176C>A	c.(1174-1176)ccC>ccA	p.P392P	TRIM66_ENST00000402157.2_Silent_p.P390P	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	392	Gln-rich.					aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						CCTGCTCCACGGGGGGCTGGG	0.657																																					p.P392P		Atlas-SNP	.											.	TRIM66	45	.	0			c.C1176A						.						11.0	14.0	13.0					11																	8662311		692	1590	2282	SO:0001819	synonymous_variant	9866	exon9			CTCCACGGGGGGC	AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.1176C>A	chr11.hg19:g.8662311G>T		28.0	0.0		86.0	7.0	NM_014818	Q9BQQ4	Silent	SNP	ENST00000299550.6	hg19																																																																																				.	.		0.657	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_084529	
TRIM66	9866	hgsc.bcm.edu	37	11	8662439	8662439	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:8662439G>T	ENST00000299550.6	-	9	1242	c.1048C>A	c.(1048-1050)Ccc>Acc	p.P350T	TRIM66_ENST00000402157.2_Missense_Mutation_p.P348T	NM_014818.1	NP_055633.1	O15016	TRI66_HUMAN	tripartite motif containing 66	350						aggresome (GO:0016235)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|kidney(1)|lung(1)|skin(2)	9						ATCTCAGGGGGCTGCCTGAAG	0.647																																					p.P350T		Atlas-SNP	.											.	TRIM66	45	.	0			c.C1048A						.						18.0	22.0	21.0					11																	8662439		692	1591	2283	SO:0001583	missense	9866	exon9			CAGGGGGCTGCCT	AB002296		11p15.4	2013-01-28	2011-01-25		ENSG00000166436	ENSG00000166436		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"""	29005	protein-coding gene	gene with protein product		612000	"""chromosome 11 open reading frame 29"", ""tripartite motif-containing 66"""	C11orf29		9205841	Standard	NM_014818		Approved	KIAA0298, TIF1D	uc010rbo.2	O15016	OTTHUMG00000150481	ENST00000299550.6:c.1048C>A	chr11.hg19:g.8662439G>T	ENSP00000299550:p.Pro350Thr	32.0	0.0		110.0	15.0	NM_014818	Q9BQQ4	Missense_Mutation	SNP	ENST00000299550.6	hg19		.	.	.	.	.	.	.	.	.	.	G	14.41	2.528472	0.44969	.	.	ENSG00000166436	ENST00000299550;ENST00000402157	T;T	0.17213	2.29;2.29	5.02	2.01	0.26516	.	0.291831	0.24856	N	0.035057	T	0.34832	0.0911	M	0.71581	2.175	0.23314	N	0.997922	D	0.89917	1.0	D	0.87578	0.998	T	0.09509	-1.0671	10	0.35671	T	0.21	-6.3717	8.5865	0.33662	0.0723:0.0:0.6548:0.2729	.	350	O15016	TRI66_HUMAN	T	350;348	ENSP00000299550:P350T;ENSP00000384876:P348T	ENSP00000299550:P350T	P	-	1	0	TRIM66	8619015	0.992000	0.36948	0.902000	0.35471	0.640000	0.38277	1.878000	0.39608	0.121000	0.18284	-0.516000	0.04426	CCC	.	.		0.647	TRIM66-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		XM_084529	
DENND5A	23258	hgsc.bcm.edu	37	11	9202573	9202573	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:9202573G>T	ENST00000328194.3	-	6	1516	c.1196C>A	c.(1195-1197)cCa>cAa	p.P399Q	DENND5A_ENST00000530044.1_Missense_Mutation_p.P399Q|DENND5A_ENST00000526523.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	399					positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGGAACTGTGGCAAGTCCTC	0.468																																					p.P399Q		Atlas-SNP	.											.	DENND5A	84	.	0			c.C1196A						.						67.0	68.0	68.0					11																	9202573		2201	4296	6497	SO:0001583	missense	23258	exon6			AACTGTGGCAAGT	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.1196C>A	chr11.hg19:g.9202573G>T	ENSP00000328524:p.Pro399Gln	74.0	0.0		211.0	17.0	NM_015213	B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	hg19	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808638	0.90707	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.05319	3.46;3.46	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.00740	-1.1586	10	0.87932	D	0	.	18.9552	0.92655	0.0:0.0:1.0:0.0	.	399;399	E9PS91;Q6IQ26	.;DEN5A_HUMAN	Q	399	ENSP00000328524:P399Q;ENSP00000435866:P399Q	ENSP00000328524:P399Q	P	-	2	0	DENND5A	9159149	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.810000	0.99221	2.550000	0.86006	0.563000	0.77884	CCA	.	.		0.468	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213	
DCDC1	341019	hgsc.bcm.edu	37	11	30937205	30937205	+	De_novo_Start_OutOfFrame	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:30937205T>C	ENST00000406071.2	-	0	1142				DCDC1_ENST00000597505.1_Missense_Mutation_p.Y1169C|DCDC1_ENST00000339794.5_Missense_Mutation_p.Y248C			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CCCATCTCTGTATTCGAACTG	0.458																																					p.Y276C		Atlas-SNP	.											.	DCDC5	137	.	0			c.A827G						.						131.0	99.0	110.0					11																	30937205		2202	4299	6501			100506627	exon8			TCTCTGTATTCGA	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000406071.2:c.-290A>G	chr11.hg19:g.30937205T>C		106.0	0.0		226.0	19.0	NM_020869	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000406071.2	hg19		.	.	.	.	.	.	.	.	.	.	T	12.34	1.910050	0.33721	.	.	ENSG00000170959	ENST00000339794	T	0.28895	1.59	5.44	2.95	0.34219	Ricin B-related lectin (1);Ricin B lectin (2);	0.307696	0.23524	N	0.047250	T	0.37972	0.1023	L	0.32530	0.975	0.27872	N	0.939982	D	0.71674	0.998	D	0.66847	0.947	T	0.10042	-1.0647	10	0.72032	D	0.01	-5.6801	7.8306	0.29340	0.4922:0.0:0.0:0.5077	.	248	Q6ZRR9	DCDC5_HUMAN	C	248	ENSP00000341700:Y248C	ENSP00000341700:Y248C	Y	-	2	0	DCDC5	30893781	1.000000	0.71417	1.000000	0.80357	0.123000	0.20343	1.286000	0.33273	0.867000	0.35654	0.533000	0.62120	TAC	.	.		0.458	DCDC1-202	KNOWN	basic	protein_coding	protein_coding		NM_181807	
PRDM11	56981	hgsc.bcm.edu	37	11	45246096	45246096	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:45246096C>T	ENST00000530656.1	+	7	1173	c.1173C>T	c.(1171-1173)ggC>ggT	p.G391G	PRDM11_ENST00000424263.2_Silent_p.G357G|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000263765.4_Silent_p.G391G			Q9NQV5	PRD11_HUMAN	PR domain containing 11	391							methyltransferase activity (GO:0008168)			endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGAATATAGGCCAGACCCAGG	0.567																																					p.G357G	NSCLC(118;1511 1736 6472 36603 43224)	Atlas-SNP	.											.	PRDM11	53	.	0			c.C1071T						.						74.0	84.0	80.0					11																	45246096		2203	4299	6502	SO:0001819	synonymous_variant	56981	exon7			TATAGGCCAGACC	AF275818	CCDS58130.1, CCDS73277.1	11p11	2008-07-21			ENSG00000019485	ENSG00000019485			13996	protein-coding gene	gene with protein product	"""PR-domain containing protein 11"""						Standard	NM_001256695		Approved	PFM8	uc031qab.1	Q9NQV5	OTTHUMG00000166478	ENST00000530656.1:c.1173C>T	chr11.hg19:g.45246096C>T		25.0	0.0		58.0	6.0	NM_001256695	Q8N9F1	Silent	SNP	ENST00000530656.1	hg19																																																																																				.	.		0.567	PRDM11-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000389928.1	NM_020229	
OR4C46	119749	hgsc.bcm.edu	37	11	51516034	51516034	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:51516034C>T	ENST00000328188.1	+	1	753	c.753C>T	c.(751-753)ccC>ccT	p.P251P		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCTTTGTGCCCTGCATATTTG	0.433																																					p.P251P		Atlas-SNP	.											.	OR4C46	96	.	0			c.C753T						.						119.0	99.0	106.0					11																	51516034		2201	4296	6497	SO:0001819	synonymous_variant	119749	exon1			TGTGCCCTGCATA		CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.753C>T	chr11.hg19:g.51516034C>T		129.0	0.0		206.0	68.0	NM_001004703		Silent	SNP	ENST00000328188.1	hg19	CCDS31498.1																																																																																			.	.		0.433	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391155.1	NM_001004703	
OR4C16	219428	hgsc.bcm.edu	37	11	55339975	55339975	+	Silent	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:55339975C>A	ENST00000314634.3	+	1	372	c.372C>A	c.(370-372)atC>atA	p.I124I		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ATGTGGACATCTGTAAGCCCC	0.512																																					p.I124I		Atlas-SNP	.											.	OR4C16	104	.	0			c.C372A						.						190.0	181.0	184.0					11																	55339975		2201	4296	6497	SO:0001819	synonymous_variant	219428	exon1			GGACATCTGTAAG	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.372C>A	chr11.hg19:g.55339975C>A		71.0	0.0		110.0	50.0	NM_001004701	Q6IEV8	Silent	SNP	ENST00000314634.3	hg19	CCDS31502.1																																																																																			.	.		0.512	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701	
OR5AS1	219447	hgsc.bcm.edu	37	11	55798784	55798784	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:55798784T>A	ENST00000313555.1	+	1	890	c.890T>A	c.(889-891)gTg>gAg	p.V297E		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	297						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AACAAGGATGTGAAAAATGCT	0.313																																					p.V297E		Atlas-SNP	.											.	OR5AS1	121	.	0			c.T890A						.						47.0	52.0	50.0					11																	55798784		2201	4296	6497	SO:0001583	missense	219447	exon1			AGGATGTGAAAAA	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.890T>A	chr11.hg19:g.55798784T>A	ENSP00000324111:p.Val297Glu	21.0	0.0		37.0	11.0	NM_001001921	Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	hg19	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.727078	0.30593	.	.	ENSG00000181785	ENST00000313555	T	0.39997	1.05	4.76	3.62	0.41486	.	0.000000	0.30593	U	0.009282	T	0.41190	0.1148	L	0.27053	0.805	0.20489	N	0.999894	D	0.63880	0.993	P	0.55161	0.77	T	0.22034	-1.0228	10	0.87932	D	0	.	9.3769	0.38288	0.0:0.0878:0.0:0.9122	.	297	Q8N127	O5AS1_HUMAN	E	297	ENSP00000324111:V297E	ENSP00000324111:V297E	V	+	2	0	OR5AS1	55555360	1.000000	0.71417	0.211000	0.23655	0.056000	0.15407	5.677000	0.68142	0.656000	0.30886	0.472000	0.43445	GTG	.	.		0.313	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921	
HNRNPUL2	221092	hgsc.bcm.edu	37	11	62491884	62491884	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:62491884T>G	ENST00000301785.5	-	2	745	c.553A>C	c.(553-555)Agt>Cgt	p.S185R	HNRNPUL2-BSCL2_ENST00000403734.2_Missense_Mutation_p.S185R	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	185	Glu-rich. {ECO:0000255}.					membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GACTTTTCACTATCCTGGTCA	0.458																																					p.S185R		Atlas-SNP	.											.	HNRNPUL2	41	.	0			c.A553C						.						105.0	103.0	104.0					11																	62491884		1875	4120	5995	SO:0001583	missense	221092	exon2			TTTCACTATCCTG		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.553A>C	chr11.hg19:g.62491884T>G	ENSP00000301785:p.Ser185Arg	103.0	0.0		243.0	43.0	NM_001079559	Q8N3B3	Missense_Mutation	SNP	ENST00000301785.5	hg19	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	T	12.95	2.091707	0.36952	.	.	ENSG00000214753	ENST00000301785	T	0.43294	0.95	5.08	5.08	0.68730	.	0.541134	0.20885	N	0.083924	T	0.22975	0.0555	N	0.14661	0.345	0.36983	D	0.894393	P	0.39551	0.678	B	0.33799	0.17	T	0.18681	-1.0329	10	0.15499	T	0.54	-9.8168	12.8404	0.57800	0.0:0.0:0.0:1.0	.	185	Q1KMD3	HNRL2_HUMAN	R	185	ENSP00000301785:S185R	ENSP00000301785:S185R	S	-	1	0	HNRNPUL2	62248460	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.933000	0.40153	2.140000	0.66376	0.533000	0.62120	AGT	.	.		0.458	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
ATL3	25923	hgsc.bcm.edu	37	11	63396832	63396832	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:63396832C>A	ENST00000398868.3	-	13	1861	c.1585G>T	c.(1585-1587)Gca>Tca	p.A529S	ATL3_ENST00000332645.4_Missense_Mutation_p.A556S|ATL3_ENST00000538786.1_Missense_Mutation_p.A511S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	529					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						CCAACAACTGCATCCCTCACA	0.388																																					p.A529S		Atlas-SNP	.											.	ATL3	31	.	0			c.G1585T						.						124.0	117.0	119.0					11																	63396832		1905	4120	6025	SO:0001583	missense	25923	exon13			CAACTGCATCCCT		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1585G>T	chr11.hg19:g.63396832C>A	ENSP00000381844:p.Ala529Ser	97.0	0.0		255.0	35.0	NM_015459	Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	hg19	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	8.508	0.865783	0.17250	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	T;T;T	0.80480	-1.25;-1.38;-1.24	5.63	1.39	0.22231	.	0.572977	0.18801	N	0.130797	T	0.52948	0.1766	N	0.04959	-0.14	0.09310	N	1	B	0.28820	0.224	B	0.24701	0.055	T	0.38564	-0.9655	10	0.29301	T	0.29	-7.3235	1.6857	0.02841	0.1828:0.4839:0.155:0.1782	.	529	Q6DD88	ATLA3_HUMAN	S	529;556;511	ENSP00000381844:A529S;ENSP00000329034:A556S;ENSP00000437593:A511S	ENSP00000329034:A556S	A	-	1	0	ATL3	63153408	0.002000	0.14202	0.425000	0.26659	0.009000	0.06853	0.010000	0.13242	0.298000	0.22638	-0.274000	0.10170	GCA	.	.		0.388	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459	
ESRRA	2101	hgsc.bcm.edu	37	11	64082291	64082291	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:64082291G>T	ENST00000405666.1	+	5	884	c.650G>T	c.(649-651)gGc>gTc	p.G217V	ESRRA_ENST00000406310.1_Missense_Mutation_p.G216V|ESRRA_ENST00000000442.6_Missense_Mutation_p.G217V	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	217	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GACCCCGCAGGCCCTGATGGG	0.577																																					p.G217V		Atlas-SNP	.											.	ESRRA	56	.	0			c.G650T						.						62.0	63.0	62.0					11																	64082291		2060	4218	6278	SO:0001583	missense	2101	exon5			CCGCAGGCCCTGA	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.650G>T	chr11.hg19:g.64082291G>T	ENSP00000384851:p.Gly217Val	33.0	0.0		74.0	8.0	NM_004451	Q14514	Missense_Mutation	SNP	ENST00000405666.1	hg19	CCDS41667.1	.	.	.	.	.	.	.	.	.	.	G	1.675	-0.507963	0.04231	.	.	ENSG00000173153	ENST00000406310;ENST00000000442;ENST00000539594;ENST00000405666	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	3.99	3.99	0.46301	Nuclear hormone receptor, ligand-binding (2);	0.279419	0.37348	N	0.002138	T	0.14485	0.0350	N	0.02539	-0.55	0.48511	D	0.999663	B;B	0.16802	0.019;0.002	B;B	0.20955	0.032;0.0	T	0.09487	-1.0672	10	0.24483	T	0.36	.	9.2555	0.37581	0.0:0.0:0.7845:0.2155	.	216;217	P11474-2;P11474	.;ERR1_HUMAN	V	216;217;74;217	ENSP00000385971:G216V;ENSP00000000442:G217V;ENSP00000439896:G74V;ENSP00000384851:G217V	ENSP00000000442:G217V	G	+	2	0	ESRRA	63838867	1.000000	0.71417	0.994000	0.49952	0.716000	0.41182	2.988000	0.49386	2.232000	0.73038	0.462000	0.41574	GGC	.	.		0.577	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
VPS51	738	hgsc.bcm.edu	37	11	64878964	64878964	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:64878964C>G	ENST00000279281.3	+	10	2346	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	VPS51_ENST00000527646.1_3'UTR|AP003068.9_ENST00000528887.1_RNA|TM7SF2_ENST00000540748.1_5'Flank|TM7SF2_ENST00000279263.7_5'Flank|TM7SF2_ENST00000345348.5_5'Flank	NM_013265.2	NP_037397.2	Q9UID3	VPS51_HUMAN	vacuolar protein sorting 51 homolog (S. cerevisiae)	752					autophagy (GO:0006914)|lipid transport (GO:0006869)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											CGTGCACTTGCTGCTGGACGA	0.632																																					p.L752V		Atlas-SNP	.											.	.	.	.	0			c.C2254G						.						115.0	85.0	95.0					11																	64878964		2201	4297	6498	SO:0001583	missense	738	exon10			CACTTGCTGCTGG	AF024631	CCDS8093.1	11q13.1	2012-07-19	2012-07-19	2012-07-19	ENSG00000149823	ENSG00000149823			1172	protein-coding gene	gene with protein product	"""fat-free homolog (zebrafish)"""	615738	"""chromosome 11 open reading frame 3"", ""chromosome 11 open reading frame 2"""	C11orf3, C11orf2		9286704, 20685960	Standard	NM_013265		Approved	ANG2, ANG3, FFR	uc001ocr.2	Q9UID3	OTTHUMG00000165600	ENST00000279281.3:c.2254C>G	chr11.hg19:g.64878964C>G	ENSP00000279281:p.Leu752Val	64.0	0.0		202.0	24.0	NM_013265	Q6PJV5|Q7L8A6|Q8WZ35|Q96DF4|Q96GR3	Missense_Mutation	SNP	ENST00000279281.3	hg19	CCDS8093.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393038	0.62066	.	.	ENSG00000149823	ENST00000279281	.	.	.	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000001	T	0.80423	0.4620	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81959	-0.0694	9	0.52906	T	0.07	-13.1403	16.005	0.80357	0.0:1.0:0.0:0.0	.	752	Q9UID3	FFR_HUMAN	V	752	.	ENSP00000279281:L752V	L	+	1	2	C11orf2	64635540	1.000000	0.71417	1.000000	0.80357	0.524000	0.34500	2.909000	0.48758	2.647000	0.89833	0.555000	0.69702	CTG	.	.		0.632	VPS51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385217.1	NM_013265	
SUV420H1	51111	hgsc.bcm.edu	37	11	67957441	67957441	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:67957441T>A	ENST00000304363.4	-	2	456	c.103A>T	c.(103-105)Acg>Tcg	p.T35S	SUV420H1_ENST00000405515.1_Missense_Mutation_p.T35S|SUV420H1_ENST00000402185.2_Missense_Mutation_p.T35S|SUV420H1_ENST00000401547.2_Missense_Mutation_p.T35S|SUV420H1_ENST00000402789.1_Missense_Mutation_p.T35S	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	35					histone H4-K20 trimethylation (GO:0034773)|muscle organ development (GO:0007517)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)|histone-lysine N-methyltransferase activity (GO:0018024)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TCCTTCCCCGTGTGCTGTAAT	0.453																																					p.T35S		Atlas-SNP	.											.	SUV420H1	125	.	0			c.A103T						.						370.0	320.0	337.0					11																	67957441		2200	4294	6494	SO:0001583	missense	51111	exon2			TCCCCGTGTGCTG	AL512763	CCDS31623.1, CCDS44660.1	11q13.2	2011-07-01			ENSG00000110066	ENSG00000110066		"""Chromatin-modifying enzymes / K-methyltransferases"""	24283	protein-coding gene	gene with protein product		610881				10810093, 11401438	Standard	NM_016028		Approved	CGI-85, KMT5B	uc001onm.1	Q4FZB7	OTTHUMG00000150484	ENST00000304363.4:c.103A>T	chr11.hg19:g.67957441T>A	ENSP00000305899:p.Thr35Ser	144.0	0.0		316.0	21.0	NM_017635	B7WNX7|Q3SX56|Q4V775|Q6P150|Q96E44|Q9BUL0|Q9H022|Q9H2K3|Q9NXV3|Q9Y393	Missense_Mutation	SNP	ENST00000304363.4	hg19	CCDS31623.1	.	.	.	.	.	.	.	.	.	.	T	5.134	0.210418	0.09757	.	.	ENSG00000110066	ENST00000304363;ENST00000401547;ENST00000405515;ENST00000402789;ENST00000402185;ENST00000434573	T;T;T;T;T;T	0.40476	1.04;1.04;1.04;1.04;1.03;1.04	5.77	-11.5	0.00074	.	1.182760	0.05656	N	0.586013	T	0.19967	0.0480	L	0.29908	0.895	0.18873	N	0.999987	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.003;0.002;0.001	T	0.06463	-1.0825	10	0.08179	T	0.78	0.5301	5.4972	0.16809	0.3645:0.3961:0.1218:0.1176	.	35;35;35;35	B7WNX0;B5MCB3;Q4FZB7-2;Q4FZB7	.;.;.;SV421_HUMAN	S	35	ENSP00000305899:T35S;ENSP00000385965:T35S;ENSP00000385640:T35S;ENSP00000385005:T35S;ENSP00000384724:T35S;ENSP00000402921:T35S	ENSP00000305899:T35S	T	-	1	0	SUV420H1	67714017	0.000000	0.05858	0.002000	0.10522	0.950000	0.60333	-3.146000	0.00584	-4.185000	0.00066	-0.386000	0.06593	ACG	.	.		0.453	SUV420H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318319.1	NM_017635	
ANAPC15	25906	hgsc.bcm.edu	37	11	71819726	71819726	+	IGR	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:71819726C>A	ENST00000227618.4	-	0	886				ANAPC15_ENST00000502597.2_Intron|LRTOMT_ENST00000307198.7_Missense_Mutation_p.L211M|ANAPC15_ENST00000543015.1_5'Flank|LRTOMT_ENST00000435085.1_Missense_Mutation_p.L211M|LRTOMT_ENST00000419228.1_Missense_Mutation_p.L171M|ANAPC15_ENST00000543050.1_Intron|LRTOMT_ENST00000439209.1_3'UTR	NM_001278487.1|NM_001278491.1|NM_014042.2	NP_001265416.1|NP_001265420.1|NP_054761.1	P60006	APC15_HUMAN	anaphase promoting complex subunit 15						mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)	anaphase-promoting complex (GO:0005680)|intracellular (GO:0005622)											TCGGGCAGACCTGGTGCTCCT	0.652																																					p.L211M		Atlas-SNP	.											.	LRTOMT	20	.	0			c.C631A						.						54.0	51.0	52.0					11																	71819726		692	1591	2283	SO:0001628	intergenic_variant	220074	exon9			GCAGACCTGGTGC	AL080071	CCDS8210.1, CCDS60880.1	11q13.4	2012-10-17	2012-05-31	2012-05-31	ENSG00000110200	ENSG00000110200		"""Anaphase promoting complex subunits"""	24531	protein-coding gene	gene with protein product		614717	"""chromosome 11 open reading frame 51"""	C11orf51		21926987	Standard	NM_014042		Approved	HSPC020, DKFZP564M082, APC15	uc001orw.3	P60006	OTTHUMG00000167865		chr11.hg19:g.71819726C>A		17.0	0.0		56.0	4.0	NM_001145309	G3V1Q3|Q9CXK2|Q9Y269	Missense_Mutation	SNP	ENST00000227618.4	hg19	CCDS8210.1	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687934	0.29962	.	.	ENSG00000184154	ENST00000419228;ENST00000435085;ENST00000307198	T;T;T	0.29142	1.58;1.58;1.58	5.17	3.21	0.36854	.	.	.	.	.	T	0.39384	0.1076	L	0.44542	1.39	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.75020	0.985;0.974	T	0.14090	-1.0485	9	0.18710	T	0.47	-3.6591	7.6386	0.28280	0.0:0.6301:0.0:0.3699	.	211;171	Q8WZ04;Q8WZ04-2	TOMT_HUMAN;.	M	171;211;211	ENSP00000392233:L171M;ENSP00000409789:L211M;ENSP00000305742:L211M	ENSP00000305742:L171M	L	+	1	2	LRTOMT	71497374	0.483000	0.25956	0.988000	0.46212	0.915000	0.54546	0.730000	0.26043	0.647000	0.30713	-0.144000	0.13903	CTG	.	.		0.652	ANAPC15-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000396695.1	NM_014042	
PLEKHB1	58473	hgsc.bcm.edu	37	11	73372585	73372585	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:73372585C>T	ENST00000354190.5	+	8	1101	c.670C>T	c.(670-672)Ctt>Ttt	p.L224F	PLEKHB1_ENST00000535129.1_Missense_Mutation_p.L170F|PLEKHB1_ENST00000543085.1_Missense_Mutation_p.L119F|Y_RNA_ENST00000516923.1_RNA|PLEKHB1_ENST00000398492.4_Missense_Mutation_p.L189F|PLEKHB1_ENST00000398494.4_Missense_Mutation_p.L205F|PLEKHB1_ENST00000227214.6_Missense_Mutation_p.L170F	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	224					multicellular organismal development (GO:0007275)|phototransduction (GO:0007602)|regulation of cell differentiation (GO:0045595)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						CATGGGCATGCTTGCGGGAGC	0.687											OREG0021217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L224F		Atlas-SNP	.											.	PLEKHB1	16	.	0			c.C670T						.						40.0	45.0	43.0					11																	73372585		1981	4147	6128	SO:0001583	missense	58473	exon8			GGCATGCTTGCGG	AF081583	CCDS44672.1, CCDS44673.1, CCDS44674.1, CCDS44675.1	11q13.5-q14.1	2013-01-10	2002-11-04	2002-11-08	ENSG00000021300	ENSG00000021300		"""Pleckstrin homology (PH) domain containing"""	19079	protein-coding gene	gene with protein product		607651	"""PH domain containing, retinal 1"""	PHRET1		10585447	Standard	NM_021200		Approved	PHR1, KPL1	uc001ouc.3	Q9UF11	OTTHUMG00000168030	ENST00000354190.5:c.670C>T	chr11.hg19:g.73372585C>T	ENSP00000346127:p.Leu224Phe	13.0	0.0	1144	66.0	14.0	NM_021200	A8K0Q5|B2RBP1|B7Z716|Q9UBF5|Q9UI37|Q9UI44	Missense_Mutation	SNP	ENST00000354190.5	hg19	CCDS44672.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539467	0.85917	.	.	ENSG00000021300	ENST00000354190;ENST00000398492;ENST00000227214;ENST00000398494;ENST00000543085;ENST00000542185;ENST00000535129;ENST00000540431	.	.	.	4.82	3.91	0.45181	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.52573	1.65	0.35813	D	0.824046	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.80764	0.994;0.986;0.994	T	0.74509	-0.3642	9	0.87932	D	0	-15.4959	10.5851	0.45278	0.0:0.9061:0.0:0.0939	.	193;189;224	Q59EU5;Q9UF11-2;Q9UF11	.;.;PKHB1_HUMAN	F	224;189;170;205;119;140;170;177	.	ENSP00000227214:L170F	L	+	1	0	PLEKHB1	73050233	1.000000	0.71417	0.997000	0.53966	0.866000	0.49608	2.994000	0.49433	2.677000	0.91161	0.561000	0.74099	CTT	.	.		0.687	PLEKHB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397593.1		
RPS3	6188	hgsc.bcm.edu	37	11	75110602	75110602	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:75110602A>G	ENST00000531188.1	+	1	73	c.11A>G	c.(10-12)cAa>cGa	p.Q4R	RPS3_ENST00000278572.6_Missense_Mutation_p.Q4R|RPS3_ENST00000524851.1_Missense_Mutation_p.Q4R|RPS3_ENST00000534440.1_Missense_Mutation_p.Q4R|SNORD15A_ENST00000384214.1_RNA|RPS3_ENST00000530164.1_Missense_Mutation_p.Q4R|RPS3_ENST00000527446.1_Missense_Mutation_p.Q4R|RPS3_ENST00000526608.1_Missense_Mutation_p.Q4R	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	4					cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|cytoplasmic translation (GO:0002181)|DNA catabolic process, endonucleolytic (GO:0000737)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of DNA repair (GO:0045738)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of DNA N-glycosylase activity (GO:1902546)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ruffle membrane (GO:0032587)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|iron-sulfur cluster binding (GO:0051536)|mRNA binding (GO:0003729)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						ATGGCAGTGCAAATATCCAAG	0.662																																					p.Q4R		Atlas-SNP	.											.	RPS3	20	.	0			c.A11G						.						47.0	49.0	48.0					11																	75110602		2200	4293	6493	SO:0001583	missense	6188	exon1			CAGTGCAAATATC		CCDS8236.1, CCDS58161.1	11q13.3-q13.5	2011-04-05				ENSG00000149273		"""S ribosomal proteins"""	10420	protein-coding gene	gene with protein product	"""IMR-90 ribosomal protein S3"", ""40S ribosomal protein S3"""	600454				1712897, 7789996	Standard	NM_001005		Approved	FLJ26283, FLJ27450, MGC87870, S3	uc031qcs.1	P23396		ENST00000531188.1:c.11A>G	chr11.hg19:g.75110602A>G	ENSP00000434643:p.Gln4Arg	42.0	0.0		157.0	9.0	NM_001256802	B2R7N5|J3KN86|Q498B5|Q8NI95	Missense_Mutation	SNP	ENST00000531188.1	hg19	CCDS8236.1	.	.	.	.	.	.	.	.	.	.	a	14.36	2.513561	0.44763	.	.	ENSG00000149273	ENST00000531188;ENST00000530164;ENST00000530689;ENST00000278572;ENST00000534440;ENST00000527446;ENST00000526608;ENST00000527273;ENST00000524851	.	.	.	5.74	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.62266	1.93	0.58432	D	0.999992	B	0.06786	0.001	B	0.27500	0.08	T	0.62905	-0.6755	9	0.72032	D	0.01	-1.5195	10.7726	0.46332	0.8411:0.1589:0.0:0.0	.	4	P23396	RS3_HUMAN	R	4	.	ENSP00000278572:Q4R	Q	+	2	0	RPS3	74788250	1.000000	0.71417	0.949000	0.38748	0.132000	0.20833	6.324000	0.72896	2.194000	0.70268	0.449000	0.29647	CAA	.	.		0.662	RPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384158.2	NM_001005	
MYO7A	4647	hgsc.bcm.edu	37	11	76858899	76858899	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:76858899C>G	ENST00000409709.3	+	4	460	c.188C>G	c.(187-189)tCg>tGg	p.S63W	MYO7A_ENST00000409893.1_Missense_Mutation_p.S63W|MYO7A_ENST00000409619.2_Missense_Mutation_p.S52W|MYO7A_ENST00000458637.2_Missense_Mutation_p.S63W	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	63					actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CACCCCACGTCGGTCCACGGC	0.637																																					p.S63W		Atlas-SNP	.											.	MYO7A	164	.	0			c.C188G						.						32.0	37.0	35.0					11																	76858899		2102	4217	6319	SO:0001583	missense	4647	exon4			CCACGTCGGTCCA	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.188C>G	chr11.hg19:g.76858899C>G	ENSP00000386331:p.Ser63Trp	27.0	0.0		128.0	15.0	NM_001127179	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	hg19	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	33	5.195496	0.94960	.	.	ENSG00000137474	ENST00000409709;ENST00000409893;ENST00000458637;ENST00000409619;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000343419	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	4.86	4.86	0.63082	Myosin head, motor domain (1);	0.000000	0.64402	D	0.000001	D	0.86855	0.6033	M	0.88377	2.95	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	0.89341	0.3654	10	0.72032	D	0.01	.	18.1904	0.89805	0.0:1.0:0.0:0.0	.	63;63;63	B9A012;F8VUN5;Q13402	.;.;MYO7A_HUMAN	W	63;63;63;52;62;62;62;62	ENSP00000386331:S63W;ENSP00000386689:S63W;ENSP00000392185:S63W;ENSP00000386635:S52W	ENSP00000345075:S62W	S	+	2	0	MYO7A	76536547	1.000000	0.71417	0.969000	0.41365	0.986000	0.74619	4.730000	0.62015	2.523000	0.85059	0.455000	0.32223	TCG	.	.		0.637	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260	
GDPD4	220032	hgsc.bcm.edu	37	11	76969478	76969478	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:76969478C>T	ENST00000376217.2	-	10	1067	c.817G>A	c.(817-819)Gat>Aat	p.D273N	GDPD4_ENST00000315938.4_Missense_Mutation_p.D273N			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	273	GP-PDE.				glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATAGGAAATCCCAGTTGAAG	0.438																																					p.D273N		Atlas-SNP	.											.	GDPD4	49	.	0			c.G817A						.						149.0	144.0	146.0					11																	76969478		2200	4292	6492	SO:0001583	missense	220032	exon10			GGAAATCCCAGTT	AY326450	CCDS8249.1	11q13.5	2008-02-05			ENSG00000178795	ENSG00000178795			24849	protein-coding gene	gene with protein product							Standard	NM_182833		Approved	GDE6	uc001oyf.3	Q6W3E5	OTTHUMG00000165136	ENST00000376217.2:c.817G>A	chr11.hg19:g.76969478C>T	ENSP00000365390:p.Asp273Asn	101.0	0.0		277.0	25.0	NM_182833	Q7Z5B0	Missense_Mutation	SNP	ENST00000376217.2	hg19		.	.	.	.	.	.	.	.	.	.	C	9.854	1.194494	0.22037	.	.	ENSG00000178795	ENST00000376217;ENST00000315938	T;T	0.30448	1.53;1.53	4.84	-9.68	0.00528	.	1.705610	0.02590	N	0.099851	T	0.20292	0.0488	L	0.45228	1.405	0.09310	N	0.999999	B	0.32467	0.372	B	0.30316	0.114	T	0.05037	-1.0910	10	0.21014	T	0.42	0.3622	8.3392	0.32232	0.0:0.1276:0.1973:0.6751	.	273	Q6W3E5-2	.	N	273	ENSP00000365390:D273N;ENSP00000320815:D273N	ENSP00000320815:D273N	D	-	1	0	GDPD4	76647126	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.641000	0.02007	-1.708000	0.01401	-0.367000	0.07326	GAT	.	.		0.438	GDPD4-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382075.1	NM_182833	
KBTBD3	143879	hgsc.bcm.edu	37	11	105925003	105925003	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:105925003G>C	ENST00000526793.1	-	3	572	c.413C>G	c.(412-414)tCc>tGc	p.S138C	KBTBD3_ENST00000531837.1_Missense_Mutation_p.S138C|KBTBD3_ENST00000534815.1_Missense_Mutation_p.S59C	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	134										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		GCAAGCTTTGGATAGGAAGGA	0.318																																					p.S138C		Atlas-SNP	.											.	KBTBD3	59	.	0			c.C413G						.						66.0	70.0	68.0					11																	105925003		2200	4298	6498	SO:0001583	missense	143879	exon3			GCTTTGGATAGGA	AK055247	CCDS8334.1	11q22.3	2013-01-08	2003-12-12	2003-12-17		ENSG00000182359		"""BTB/POZ domain containing"""	22934	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 3"""	BKLHD3			Standard	NM_198439		Approved		uc001pjb.3	Q8NAB2		ENST00000526793.1:c.413C>G	chr11.hg19:g.105925003G>C	ENSP00000436262:p.Ser138Cys	105.0	0.0		232.0	11.0	NM_152433	Q6N066|Q86X38|Q96NK5	Missense_Mutation	SNP	ENST00000526793.1	hg19	CCDS8334.1	.	.	.	.	.	.	.	.	.	.	G	15.28	2.785454	0.49997	.	.	ENSG00000182359	ENST00000534815;ENST00000526793;ENST00000531837	T;T;T	0.70869	-0.52;-0.52;-0.52	5.36	5.36	0.76844	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.163800	0.56097	D	0.000028	T	0.67869	0.2939	N	0.13098	0.295	0.38045	D	0.935583	B;P	0.42456	0.347;0.78	P;P	0.49999	0.505;0.628	T	0.75263	-0.3379	10	0.72032	D	0.01	.	19.0932	0.93238	0.0:0.0:1.0:0.0	.	138;134	A8K1K0;Q8NAB2	.;KBTB3_HUMAN	C	59;138;138	ENSP00000431910:S59C;ENSP00000436262:S138C;ENSP00000432163:S138C	ENSP00000436262:S138C	S	-	2	0	KBTBD3	105430213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.923000	0.56469	2.511000	0.84671	0.650000	0.86243	TCC	.	.		0.318	KBTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388705.2	NM_152433	
ARHGEF12	23365	hgsc.bcm.edu	37	11	120317715	120317715	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:120317715G>C	ENST00000397843.2	+	18	1676	c.1510G>C	c.(1510-1512)Gag>Cag	p.E504Q	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.E485Q|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.E401Q	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	504	RGSL.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACTTGATGCAGAGCGAGACAA	0.428			T	MLL	AML																																p.E504Q		Atlas-SNP	.		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	.	ARHGEF12	133	.	0			c.G1510C						.						127.0	119.0	121.0					11																	120317715		1976	4177	6153	SO:0001583	missense	23365	exon18			GATGCAGAGCGAG	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.1510G>C	chr11.hg19:g.120317715G>C	ENSP00000380942:p.Glu504Gln	73.0	0.0		206.0	20.0	NM_015313	O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	hg19	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	33	5.252150	0.95336	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	D;D;D	0.85013	-1.93;-1.93;-1.93	5.3	5.3	0.74995	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.000000	0.46758	D	0.000263	D	0.92011	0.7469	M	0.70595	2.14	0.58432	D	0.999995	D;D;D	0.89917	0.994;0.999;1.0	D;D;D	0.79108	0.95;0.979;0.992	D	0.91908	0.5537	10	0.54805	T	0.06	-19.1516	19.3235	0.94252	0.0:0.0:1.0:0.0	.	401;485;504	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	Q	504;485;401	ENSP00000380942:E504Q;ENSP00000349056:E485Q;ENSP00000432984:E401Q	ENSP00000349056:E485Q	E	+	1	0	ARHGEF12	119822925	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.314000	0.96306	2.627000	0.88993	0.650000	0.86243	GAG	.	.		0.428	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
SCN3B	55800	hgsc.bcm.edu	37	11	123513234	123513234	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:123513234A>T	ENST00000392770.2	-	3	1167	c.365T>A	c.(364-366)gTg>gAg	p.V122E	SCN3B_ENST00000299333.3_Missense_Mutation_p.V122E|SCN3B_ENST00000530277.1_Missense_Mutation_p.V122E	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	122	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CTCCCGGGACACATTGCAGGT	0.602																																					p.V122E		Atlas-SNP	.											.	SCN3B	53	.	0			c.T365A						.						104.0	96.0	99.0					11																	123513234		2202	4299	6501	SO:0001583	missense	55800	exon3			CGGGACACATTGC	AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.365T>A	chr11.hg19:g.123513234A>T	ENSP00000376523:p.Val122Glu	46.0	0.0		128.0	11.0	NM_018400	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	hg19	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	A	32	5.160704	0.94727	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.110193	0.64402	D	0.000008	D	0.97430	0.9159	M	0.79805	2.47	0.80722	D	1	D	0.63046	0.992	P	0.62089	0.898	D	0.97985	1.0351	10	0.87932	D	0	-9.7242	16.5655	0.84588	1.0:0.0:0.0:0.0	.	122	Q9NY72	SCN3B_HUMAN	E	122	ENSP00000376523:V122E;ENSP00000299333:V122E;ENSP00000432785:V122E;ENSP00000435554:V122E	ENSP00000299333:V122E	V	-	2	0	SCN3B	123018444	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.285000	0.89914	2.302000	0.77476	0.533000	0.62120	GTG	.	.		0.602	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	
OR8B2	26595	hgsc.bcm.edu	37	11	124252995	124252995	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:124252995A>C	ENST00000375013.2	-	1	263	c.245T>G	c.(244-246)cTa>cGa	p.L82R		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AAAGTTCATTAGCATTTTGGG	0.378																																					p.L82R		Atlas-SNP	.											.	OR8B2	42	.	0			c.T245G						.						133.0	127.0	129.0					11																	124252995		2201	4299	6500	SO:0001583	missense	26595	exon1			TTCATTAGCATTT	AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.245T>G	chr11.hg19:g.124252995A>C	ENSP00000364152:p.Leu82Arg	107.0	0.0		276.0	13.0	NM_001005468	Q8NGH2	Missense_Mutation	SNP	ENST00000375013.2	hg19	CCDS31708.1	.	.	.	.	.	.	.	.	.	.	a	12.46	1.943514	0.34283	.	.	ENSG00000204293	ENST00000375013	T	0.00424	7.45	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000346	T	0.01800	0.0057	H	0.99299	4.505	0.26874	N	0.967685	P	0.52577	0.954	P	0.53450	0.726	T	0.12477	-1.0546	10	0.87932	D	0	.	12.5889	0.56432	1.0:0.0:0.0:0.0	.	82	Q96RD0	OR8B2_HUMAN	R	82	ENSP00000364152:L82R	ENSP00000364152:L82R	L	-	2	0	OR8B2	123758205	0.912000	0.30974	0.465000	0.27155	0.171000	0.22731	6.762000	0.74950	1.911000	0.55334	0.329000	0.21502	CTA	.	.		0.378	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387290.1	NM_001005468	
OR8B8	26493	hgsc.bcm.edu	37	11	124310110	124310110	+	Missense_Mutation	SNP	C	C	T	rs147220624	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr11:124310110C>T	ENST00000328064.2	-	1	944	c.872G>A	c.(871-873)aGc>aAc	p.S291N		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	291					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		ATTCCTCAGGCTATAAATTAA	0.408																																					p.S291N		Atlas-SNP	.											.	OR8B8	76	.	0			c.G872A						.						107.0	98.0	101.0					11																	124310110		2201	4299	6500	SO:0001583	missense	26493	exon1			CTCAGGCTATAAA	AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.872G>A	chr11.hg19:g.124310110C>T	ENSP00000330280:p.Ser291Asn	49.0	0.0		119.0	10.0	NM_012378	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	hg19	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379611	0.42207	.	.	ENSG00000197125	ENST00000328064	T	0.39056	1.1	3.81	3.81	0.43845	.	0.000000	0.56097	D	0.000036	T	0.76870	0.4048	H	0.98559	4.265	0.25578	N	0.98683	D	0.71674	0.998	D	0.66847	0.947	T	0.75889	-0.3158	10	0.87932	D	0	.	16.615	0.84904	0.0:1.0:0.0:0.0	.	291	Q15620	OR8B8_HUMAN	N	291	ENSP00000330280:S291N	ENSP00000330280:S291N	S	-	2	0	OR8B8	123815320	0.017000	0.18338	0.749000	0.31150	0.468000	0.32798	1.191000	0.32138	2.412000	0.81896	0.655000	0.94253	AGC	.	C|0.999;A|0.001		0.408	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378	
B4GALNT3	283358	hgsc.bcm.edu	37	12	668557	668557	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:668557G>A	ENST00000266383.5	+	19	2871	c.2858G>A	c.(2857-2859)tGg>tAg	p.W953*		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	953					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CGAGACCGCTGGGGCGGGGAA	0.617																																					p.W953X		Atlas-SNP	.											.	B4GALNT3	64	.	0			c.G2858A						.						88.0	94.0	92.0					12																	668557		2203	4300	6503	SO:0001587	stop_gained	283358	exon19			ACCGCTGGGGCGG	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.2858G>A	chr12.hg19:g.668557G>A	ENSP00000266383:p.Trp953*	45.0	0.0		102.0	11.0	NM_173593	Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	hg19	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	G	41	8.958160	0.99016	.	.	ENSG00000139044	ENST00000266383	.	.	.	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.6164	18.2881	0.90120	0.0:0.0:1.0:0.0	.	.	.	.	X	953	.	ENSP00000266383:W953X	W	+	2	0	B4GALNT3	538818	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.809000	0.86057	2.383000	0.81215	0.462000	0.41574	TGG	.	.		0.617	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
NRIP2	83714	hgsc.bcm.edu	37	12	2944113	2944113	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:2944113G>A	ENST00000337508.4	-	1	77	c.37C>T	c.(37-39)Ccc>Tcc	p.P13S		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	13					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			CAACAGGAGGGTCTCCACGGG	0.587																																					p.P13S		Atlas-SNP	.											.	NRIP2	21	.	0			c.C37T						.						48.0	44.0	45.0					12																	2944113		2203	4300	6503	SO:0001583	missense	83714	exon1			AGGAGGGTCTCCA	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.37C>T	chr12.hg19:g.2944113G>A	ENSP00000337501:p.Pro13Ser	60.0	0.0		137.0	10.0	NM_031474	A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	hg19	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	9.806	1.181895	0.21787	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	4.34	4.34	0.51931	.	.	.	.	.	T	0.49695	0.1572	L	0.43152	1.355	0.26649	N	0.972146	D	0.64830	0.994	P	0.56127	0.792	T	0.40979	-0.9534	8	0.87932	D	0	-12.3098	12.2247	0.54453	0.0:0.0:1.0:0.0	.	13	Q9BQI9	NRIP2_HUMAN	S	13	.	ENSP00000337501:P13S	P	-	1	0	NRIP2	2814374	0.998000	0.40836	0.942000	0.38095	0.031000	0.12232	1.929000	0.40114	2.259000	0.74868	0.484000	0.47621	CCC	.	.		0.587	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474	
FGF6	2251	hgsc.bcm.edu	37	12	4553334	4553334	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:4553334C>T	ENST00000228837.2	-	2	458	c.415G>A	c.(415-417)Gtt>Att	p.V139I		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	139					angiogenesis (GO:0001525)|cartilage condensation (GO:0001502)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|myoblast differentiation (GO:0045445)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|sarcolemma (GO:0042383)	growth factor activity (GO:0008083)	p.V139I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			TTCATGGCAACGAAGAGGGCA	0.512																																					p.V139I		Atlas-SNP	.											FGF6,NS,carcinoma,0,1	FGF6	40	.	1	Substitution - Missense(1)	prostate(1)	c.G415A						.						106.0	81.0	89.0					12																	4553334		2203	4300	6503	SO:0001583	missense	2251	exon2			TGGCAACGAAGAG	X63454	CCDS8527.1	12p13	2014-01-30				ENSG00000111241		"""Endogenous ligands"""	3684	protein-coding gene	gene with protein product		134921				16597617	Standard	NM_020996		Approved		uc001qmr.1	P10767		ENST00000228837.2:c.415G>A	chr12.hg19:g.4553334C>T	ENSP00000228837:p.Val139Ile	43.0	0.0		215.0	24.0	NM_020996	Q0VAE1	Missense_Mutation	SNP	ENST00000228837.2	hg19	CCDS8527.1	.	.	.	.	.	.	.	.	.	.	c	8.440	0.850726	0.17034	.	.	ENSG00000111241	ENST00000543077;ENST00000228837	D;T	0.85861	-2.04;1.5	5.63	-3.46	0.04767	.	0.271169	0.41605	N	0.000859	T	0.77198	0.4095	L	0.43923	1.385	0.40032	D	0.975543	B	0.13594	0.008	B	0.17433	0.018	T	0.55786	-0.8086	10	0.42905	T	0.14	.	13.631	0.62196	0.0:0.4678:0.0:0.5322	.	139	P10767	FGF6_HUMAN	I	18;139	ENSP00000445479:V18I;ENSP00000228837:V139I	ENSP00000228837:V139I	V	-	1	0	FGF6	4423595	0.002000	0.14202	0.017000	0.16124	0.633000	0.38033	-1.160000	0.03147	-1.177000	0.02744	-2.144000	0.00337	GTT	.	.		0.512	FGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398939.1	NM_020996	
VAMP1	6843	hgsc.bcm.edu	37	12	6575091	6575091	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:6575091C>G	ENST00000396308.3	-	3	350	c.205G>C	c.(205-207)Gct>Cct	p.A69P	VAMP1_ENST00000544432.1_5'UTR|TAPBPL_ENST00000545700.1_3'UTR|VAMP1_ENST00000361716.3_Missense_Mutation_p.A69P|VAMP1_ENST00000400911.3_Missense_Mutation_p.A69P|VAMP1_ENST00000535180.1_Missense_Mutation_p.A69P	NM_014231.3|NM_199245.1	NP_055046.1|NP_954740.1	P23763	VAMP1_HUMAN	vesicle-associated membrane protein 1 (synaptobrevin 1)	69	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				neurotransmitter secretion (GO:0007269)|SNARE complex assembly (GO:0035493)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuron projection (GO:0043005)|synapse (GO:0045202)				endometrium(1)|large_intestine(1)|prostate(1)	3					Botulinum Toxin Type B(DB00042)	AAGGCATCAGCTCGGTCATCC	0.512											OREG0021627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A69P		Atlas-SNP	.											.	VAMP1	6	.	0			c.G205C						.						132.0	108.0	116.0					12																	6575091		2203	4300	6503	SO:0001583	missense	6843	exon3			CATCAGCTCGGTC		CCDS31731.1, CCDS41740.1, CCDS44809.1, CCDS73422.1	12p	2013-02-13			ENSG00000139190	ENSG00000139190		"""Vesicle-associated membrane proteins"""	12642	protein-coding gene	gene with protein product		185880		SYB1		1976629	Standard	XM_006719011		Approved	VAMP-1	uc001qok.3	P23763	OTTHUMG00000168269	ENST00000396308.3:c.205G>C	chr12.hg19:g.6575091C>G	ENSP00000379602:p.Ala69Pro	71.0	0.0	635	157.0	16.0	NM_014231	A8MVP3|D3DUR3|O75468|Q15857|Q6FG94|Q8IVC9	Missense_Mutation	SNP	ENST00000396308.3	hg19	CCDS41740.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609022	0.87258	.	.	ENSG00000139190	ENST00000400911;ENST00000361716;ENST00000535180;ENST00000355479;ENST00000396308;ENST00000396943;ENST00000539047	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.77	5.77	0.91146	Synaptobrevin (4);	0.000000	0.85682	D	0.000000	T	0.73513	0.3596	H	0.94771	3.58	0.80722	D	1	B;B;B	0.31100	0.2;0.238;0.308	B;B;P	0.44946	0.317;0.445;0.465	T	0.77175	-0.2684	10	0.87932	D	0	.	19.9983	0.97395	0.0:1.0:0.0:0.0	.	69;69;69	P23763-3;P23763;P23763-2	.;VAMP1_HUMAN;.	P	69	ENSP00000383702:A69P;ENSP00000355122:A69P;ENSP00000444181:A69P;ENSP00000379602:A69P	ENSP00000347664:A69P	A	-	1	0	VAMP1	6445352	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.747000	0.85070	2.724000	0.93272	0.561000	0.74099	GCT	.	.		0.512	VAMP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399078.1		
ATN1	1822	hgsc.bcm.edu	37	12	7045220	7045220	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:7045220A>T	ENST00000356654.4	+	5	1027	c.790A>T	c.(790-792)Agc>Tgc	p.S264C	ATN1_ENST00000396684.2_Missense_Mutation_p.S264C	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	264					cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTCAGTATCAAGCTCTGGGGC	0.622																																					p.S264C		Atlas-SNP	.											.	ATN1	95	.	0			c.A790T						.						45.0	43.0	43.0					12																	7045220		2203	4300	6503	SO:0001583	missense	1822	exon5			GTATCAAGCTCTG	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.790A>T	chr12.hg19:g.7045220A>T	ENSP00000349076:p.Ser264Cys	20.0	0.0		30.0	12.0	NM_001007026	Q99495|Q99621|Q9UEK7	Missense_Mutation	SNP	ENST00000356654.4	hg19	CCDS31734.1	.	.	.	.	.	.	.	.	.	.	a	13.12	2.142145	0.37825	.	.	ENSG00000111676	ENST00000356654;ENST00000396684;ENST00000544325	T;T;T	0.55052	0.54;0.54;0.54	3.51	1.1	0.20463	.	0.187765	0.26000	U	0.026951	T	0.26557	0.0649	N	0.14661	0.345	0.29885	N	0.825662	P;P	0.50369	0.758;0.934	B;B	0.37550	0.171;0.253	T	0.28332	-1.0047	10	0.59425	D	0.04	.	5.1633	0.15073	0.6358:0.0:0.3642:0.0	.	264;264	Q86V38;P54259	.;ATN1_HUMAN	C	264	ENSP00000349076:S264C;ENSP00000379915:S264C;ENSP00000441744:S264C	ENSP00000349076:S264C	S	+	1	0	ATN1	6915481	0.814000	0.29104	1.000000	0.80357	0.714000	0.41099	0.549000	0.23329	0.514000	0.28300	0.473000	0.43528	AGC	.	.		0.622	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940	
SLC2A3	6515	hgsc.bcm.edu	37	12	8086448	8086448	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:8086448G>T	ENST00000075120.7	-	2	306	c.66C>A	c.(64-66)ttC>ttA	p.F22L		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	22					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AGCCAAATTGGAAAGAGCCGA	0.443											OREG0021656	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.F22L	Colon(96;424 1461 14416 20933 23688)	Atlas-SNP	.											.	SLC2A3	83	.	0			c.C66A						.						97.0	94.0	95.0					12																	8086448		2203	4300	6503	SO:0001583	missense	6515	exon2			AAATTGGAAAGAG	M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.66C>A	chr12.hg19:g.8086448G>T	ENSP00000075120:p.Phe22Leu	71.0	0.0	646	159.0	12.0	NM_006931	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	ENST00000075120.7	hg19	CCDS8586.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.870476	0.72065	.	.	ENSG00000059804	ENST00000075120	D	0.82167	-1.58	4.23	3.33	0.38152	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.062472	0.64402	D	0.000003	T	0.60689	0.2288	N	0.05534	-0.03	0.45216	D	0.998223	B	0.10296	0.003	B	0.20184	0.028	T	0.53989	-0.8360	10	0.12430	T	0.62	.	5.4377	0.16490	0.1094:0.2076:0.6829:0.0	.	22	P11169	GTR3_HUMAN	L	22	ENSP00000075120:F22L	ENSP00000075120:F22L	F	-	3	2	SLC2A3	7977715	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	1.215000	0.32431	2.370000	0.80446	0.543000	0.68304	TTC	.	.		0.443	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257914.1	NM_006931	
CLEC4E	26253	hgsc.bcm.edu	37	12	8692481	8692481	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:8692481G>A	ENST00000299663.3	-	2	265	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	CLEC4E_ENST00000545274.1_Missense_Mutation_p.L34F|CLEC4E_ENST00000446457.2_Missense_Mutation_p.L34F	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	34					immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					CAGGCACTGAGAAATAGGATG	0.423																																					p.L34F		Atlas-SNP	.											.	CLEC4E	30	.	0			c.C100T						.						223.0	224.0	223.0					12																	8692481		2203	4300	6503	SO:0001583	missense	26253	exon2			CACTGAGAAATAG	AB024718	CCDS8594.1	12p13.31	2005-02-09		2005-02-09	ENSG00000166523	ENSG00000166523		"""C-type lectin domain containing"""	14555	protein-coding gene	gene with protein product		609962	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 9"""	CLECSF9		10528209	Standard	NM_014358		Approved	mincle	uc001quo.1	Q9ULY5	OTTHUMG00000168675	ENST00000299663.3:c.100C>T	chr12.hg19:g.8692481G>A	ENSP00000299663:p.Leu34Phe	44.0	0.0		123.0	24.0	NM_014358	B2R6Q6	Missense_Mutation	SNP	ENST00000299663.3	hg19	CCDS8594.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.796740	0.50208	.	.	ENSG00000166523	ENST00000299663;ENST00000446457;ENST00000545274	T;T	0.52057	3.58;0.68	3.98	3.98	0.46160	.	0.000000	0.41294	D	0.000911	T	0.68183	0.2973	M	0.83384	2.64	0.34830	D	0.739567	D	0.89917	1.0	D	0.83275	0.996	T	0.78130	-0.2324	10	0.51188	T	0.08	.	11.7537	0.51863	0.0:0.0:1.0:0.0	.	34	Q9ULY5	CLC4E_HUMAN	F	34	ENSP00000299663:L34F;ENSP00000443034:L34F	ENSP00000299663:L34F	L	-	1	0	CLEC4E	8583748	0.991000	0.36638	0.916000	0.36221	0.417000	0.31264	2.600000	0.46240	2.223000	0.72356	0.655000	0.94253	CTC	.	.		0.423	CLEC4E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400566.1	NM_014358	
CDKN1B	1027	hgsc.bcm.edu	37	12	12871889	12871889	+	Splice_Site	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:12871889G>A	ENST00000228872.4	+	2	1321		c.e2+1		CDKN1B_ENST00000477087.1_Splice_Site|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|cellular response to antibiotic (GO:0071236)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|mitotic cell cycle (GO:0000278)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular component movement (GO:0051271)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of kinase activity (GO:0033673)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell death (GO:0010942)|positive regulation of cell proliferation (GO:0008284)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|potassium ion transport (GO:0006813)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to amino acid (GO:0043200)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein phosphatase binding (GO:0019903)|transforming growth factor beta receptor, cytoplasmic mediator activity (GO:0005072)			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		AAACAGCTCGGTGGGTTGATC	0.512																																					.		Atlas-SNP	.											.	CDKN1B	48	.	0			c.605+1G>A						.						59.0	63.0	62.0					12																	12871889		2203	4300	6503	SO:0001630	splice_region_variant	1027	exon2			AGCTCGGTGGGTT	AF480891	CCDS8653.1	12p13.1-p12	2008-08-04			ENSG00000111276	ENSG00000111276			1785	protein-coding gene	gene with protein product		600778				8033212	Standard	NM_004064		Approved	KIP1, P27KIP1	uc001rat.2	P46527	OTTHUMG00000149914	ENST00000228872.4:c.594+1G>A	chr12.hg19:g.12871889G>A		16.0	0.0		46.0	8.0	NM_004064	Q16307|Q5U0H2|Q9BUS6	Splice_Site	SNP	ENST00000228872.4	hg19	CCDS8653.1																																																																																			.	.		0.512	CDKN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313878.2	NM_004064	Intron
SMCO3	440087	hgsc.bcm.edu	37	12	14959587	14959587	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:14959587C>G	ENST00000316048.2	-	2	100	c.28G>C	c.(28-30)Gag>Cag	p.E10Q	C12orf60_ENST00000527783.1_Intron|C12orf60_ENST00000330828.2_Intron	NM_001013698.2	NP_001013720.2	A2RU48	SMCO3_HUMAN	single-pass membrane protein with coiled-coil domains 3	10						integral component of membrane (GO:0016021)											TTTGGGTTCTCTGGGTAAAGG	0.388																																					p.E10Q		Atlas-SNP	.											.	.	.	.	0			c.G28C						.						81.0	81.0	81.0					12																	14959587		1829	4091	5920	SO:0001583	missense	0	exon2			GGTTCTCTGGGTA		CCDS41759.1	12p12.3	2013-03-11	2013-03-11	2013-03-11	ENSG00000179256	ENSG00000179256			34401	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 69"""	C12orf69			Standard	NM_001013698		Approved	LOC440087	uc001rck.1	A2RU48	OTTHUMG00000167474	ENST00000316048.2:c.28G>C	chr12.hg19:g.14959587C>G	ENSP00000381895:p.Glu10Gln	70.0	0.0		122.0	11.0	NM_001013698	Q8NAI5	Missense_Mutation	SNP	ENST00000316048.2	hg19	CCDS41759.1	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828948	0.32329	.	.	ENSG00000179256	ENST00000316048	T	0.33865	1.39	5.25	4.34	0.51931	.	0.641612	0.12334	N	0.478087	T	0.20901	0.0503	N	0.12182	0.205	0.21256	N	0.999747	B	0.09022	0.002	B	0.08055	0.003	T	0.17018	-1.0383	10	0.15952	T	0.53	-19.9399	11.3905	0.49811	0.0:0.8093:0.1907:0.0	.	10	A2RU48	CL069_HUMAN	Q	10	ENSP00000381895:E10Q	ENSP00000381895:E10Q	E	-	1	0	C12orf69	14850854	1.000000	0.71417	0.990000	0.47175	0.853000	0.48598	2.512000	0.45485	1.398000	0.46701	0.555000	0.69702	GAG	.	.		0.388	SMCO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394738.1	NM_001013698	
RECQL	5965	hgsc.bcm.edu	37	12	21643210	21643210	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:21643210C>G	ENST00000444129.2	-	4	785	c.317G>C	c.(316-318)gGa>gCa	p.G106A	RECQL_ENST00000421138.2_Missense_Mutation_p.G106A	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	106	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TACCTCCTTTCCAGCCATTGT	0.348								Other identified genes with known or suspected DNA repair function																													p.G106A		Atlas-SNP	.											.	RECQL	45	.	0			c.G317C						.						120.0	121.0	120.0					12																	21643210		2203	4300	6503	SO:0001583	missense	5965	exon5			TCCTTTCCAGCCA	D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.317G>C	chr12.hg19:g.21643210C>G	ENSP00000416739:p.Gly106Ala	95.0	0.0		171.0	30.0	NM_032941	A8K6G2	Missense_Mutation	SNP	ENST00000444129.2	hg19	CCDS31756.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708568	0.89018	.	.	ENSG00000004700	ENST00000444129;ENST00000421138;ENST00000396093;ENST00000314748;ENST00000542432;ENST00000536240	T;T;T;T;T;T	0.76968	-0.97;-0.97;-0.53;-0.53;-0.53;-1.06	5.29	5.29	0.74685	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.117022	0.64402	D	0.000017	D	0.84790	0.5550	M	0.91038	3.17	0.58432	D	0.999992	P	0.48407	0.91	B	0.43575	0.424	D	0.88762	0.3258	10	0.66056	D	0.02	-1.1318	19.2899	0.94095	0.0:1.0:0.0:0.0	.	106	P46063	RECQ1_HUMAN	A	106	ENSP00000416739:G106A;ENSP00000395449:G106A;ENSP00000379400:G106A;ENSP00000318727:G106A;ENSP00000445555:G106A;ENSP00000439069:G106A	ENSP00000318727:G106A	G	-	2	0	RECQL	21534477	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.570000	0.82390	2.615000	0.88500	0.650000	0.86243	GGA	.	.		0.348	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402371.1	NM_002907	
TENC1	23371	hgsc.bcm.edu	37	12	53446269	53446269	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:53446269A>T	ENST00000314250.6	+	3	505	c.215A>T	c.(214-216)gAa>gTa	p.E72V	RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000549700.1_Missense_Mutation_p.E72V|TENC1_ENST00000379902.3_De_novo_Start_OutOfFrame|TENC1_ENST00000552570.1_Missense_Mutation_p.E72V|RP11-983P16.4_ENST00000546793.1_RNA|RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000451358.1_Missense_Mutation_p.E72V|TENC1_ENST00000314276.3_Missense_Mutation_p.E82V|TENC1_ENST00000546602.1_Missense_Mutation_p.E72V	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	72					cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGAAAATGTGAAGCAAAGGTG	0.567																																					p.E82V		Atlas-SNP	.											.	TENC1	148	.	0			c.A245T						.						227.0	213.0	218.0					12																	53446269		2203	4300	6503	SO:0001583	missense	23371	exon3			AATGTGAAGCAAA	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.215A>T	chr12.hg19:g.53446269A>T	ENSP00000319684:p.Glu72Val	64.0	0.0		173.0	24.0	NM_015319	A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	hg19	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.503466	0.85176	.	.	ENSG00000111077	ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D	0.83506	-1.73;-1.73;-1.73;-1.73;-1.73;-1.73	5.55	4.41	0.53225	Protein kinase C-like, phorbol ester/diacylglycerol binding (3);	0.000000	0.64402	D	0.000003	D	0.87966	0.6311	L	0.61218	1.895	0.40401	D	0.979645	D;D;D;D	0.89917	1.0;0.975;1.0;0.997	D;P;D;D	0.80764	0.963;0.668;0.983;0.994	D	0.88702	0.3216	10	0.87932	D	0	-3.8027	9.2442	0.37515	0.9148:0.0:0.0852:0.0	.	72;72;82;49	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	V	82;72;72;72;72;72;72	ENSP00000319756:E82V;ENSP00000319684:E72V;ENSP00000393362:E72V;ENSP00000449363:E72V;ENSP00000447021:E72V;ENSP00000449361:E72V	ENSP00000319684:E72V	E	+	2	0	TENC1	51732536	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.667000	0.54547	2.251000	0.74343	0.482000	0.46254	GAA	.	.		0.567	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754	
HOXC4	3221	hgsc.bcm.edu	37	12	54447739	54447739	+	Missense_Mutation	SNP	C	C	A	rs377491433		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:54447739C>A	ENST00000430889.2	+	1	79	c.33C>A	c.(31-33)aaC>aaA	p.N11K	HOXC4_ENST00000609810.1_Missense_Mutation_p.N11K|HOXC4_ENST00000303406.4_Missense_Mutation_p.N11K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	11					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TGGACTCTAACTACATCGATC	0.423																																					p.N11K		Atlas-SNP	.											.	HOXC4	29	.	0			c.C33A						.						97.0	96.0	96.0					12																	54447739		2203	4300	6503	SO:0001583	missense	3221	exon3			CTCTAACTACATC		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.33C>A	chr12.hg19:g.54447739C>A	ENSP00000399808:p.Asn11Lys	38.0	0.0		135.0	14.0	NM_014620		Missense_Mutation	SNP	ENST00000430889.2	hg19	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	C	12.51	1.960162	0.34565	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.55234	0.53;0.53	3.41	3.41	0.39046	.	0.055508	0.64402	D	0.000002	T	0.62368	0.2422	L	0.46819	1.47	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	T	0.57929	-0.7726	10	0.23302	T	0.38	.	14.7795	0.69754	0.0:1.0:0.0:0.0	.	11	P09017	HXC4_HUMAN	K	11	ENSP00000305973:N11K;ENSP00000399808:N11K	ENSP00000305973:N11K	N	+	3	2	HOXC4	52734006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.319000	0.43788	2.187000	0.69744	0.462000	0.41574	AAC	.	.		0.423	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1		
HOXC4	3221	hgsc.bcm.edu	37	12	54447841	54447841	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:54447841C>A	ENST00000430889.2	+	1	181	c.135C>A	c.(133-135)ttC>ttA	p.F45L	HOXC4_ENST00000609810.1_Missense_Mutation_p.F45L|HOXC4_ENST00000303406.4_Missense_Mutation_p.F45L	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	45					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AATCGGGATTCCAGCATCACC	0.567																																					p.F45L		Atlas-SNP	.											.	HOXC4	29	.	0			c.C135A						.						124.0	132.0	129.0					12																	54447841		2203	4300	6503	SO:0001583	missense	3221	exon3			GGGATTCCAGCAT		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.135C>A	chr12.hg19:g.54447841C>A	ENSP00000399808:p.Phe45Leu	49.0	0.0		100.0	9.0	NM_014620		Missense_Mutation	SNP	ENST00000430889.2	hg19	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	c	13.63	2.294124	0.40594	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.80653	-1.4;-1.4	3.41	2.53	0.30540	.	0.503896	0.19881	N	0.103975	T	0.71592	0.3358	L	0.52266	1.64	0.46279	D	0.998966	B	0.25667	0.131	B	0.19666	0.026	T	0.67902	-0.5550	10	0.46703	T	0.11	.	7.4489	0.27227	0.0:0.7876:0.0:0.2124	.	45	P09017	HXC4_HUMAN	L	45	ENSP00000305973:F45L;ENSP00000399808:F45L	ENSP00000305973:F45L	F	+	3	2	HOXC4	52734108	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	1.449000	0.35123	1.009000	0.39289	-0.355000	0.07637	TTC	.	.		0.567	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1		
OR6C74	254783	hgsc.bcm.edu	37	12	55641327	55641327	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:55641327G>A	ENST00000343870.4	+	1	346	c.256G>A	c.(256-258)Ggt>Agt	p.G86S		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	86			G -> D (in dbSNP:rs6581025).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TATGGCAACAGGTGATAAGAC	0.393																																					p.G86S		Atlas-SNP	.											.	OR6C74	52	.	0			c.G256A						.						197.0	199.0	198.0					12																	55641327		2203	4300	6503	SO:0001583	missense	254783	exon1			GCAACAGGTGATA		CCDS31816.1	12q13.13	2012-08-09			ENSG00000197706	ENSG00000197706		"""GPCR / Class A : Olfactory receptors"""	31303	protein-coding gene	gene with protein product							Standard	NM_001005490		Approved		uc010spg.2	A6NCV1	OTTHUMG00000165162	ENST00000343870.4:c.256G>A	chr12.hg19:g.55641327G>A	ENSP00000342836:p.Gly86Ser	92.0	0.0		284.0	30.0	NM_001005490		Missense_Mutation	SNP	ENST00000343870.4	hg19	CCDS31816.1	.	.	.	.	.	.	.	.	.	.	g	15.46	2.841617	0.51057	.	.	ENSG00000197706	ENST00000343870	T	0.02916	4.11	5.36	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.04634	0.0126	L	0.51422	1.61	0.09310	N	1	P	0.39759	0.687	B	0.44133	0.442	T	0.22417	-1.0217	10	0.87932	D	0	.	6.9684	0.24635	0.1567:0.2468:0.5965:0.0	.	86	A6NCV1	O6C74_HUMAN	S	86	ENSP00000342836:G86S	ENSP00000342836:G86S	G	+	1	0	OR6C74	53927594	0.000000	0.05858	0.217000	0.23759	0.954000	0.61252	0.637000	0.24659	1.371000	0.46172	0.551000	0.68910	GGT	.	.		0.393	OR6C74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382312.1		
OR6C75	390323	hgsc.bcm.edu	37	12	55759521	55759521	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:55759521G>T	ENST00000343399.3	+	1	627	c.627G>T	c.(625-627)ttG>ttT	p.L209F		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TGGTCACCTTGACATTAGTTA	0.408																																					p.L209F		Atlas-SNP	.											.	OR6C75	67	.	0			c.G627T						.						147.0	129.0	135.0					12																	55759521		2203	4300	6503	SO:0001583	missense	390323	exon1			CACCTTGACATTA		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.627G>T	chr12.hg19:g.55759521G>T	ENSP00000368987:p.Leu209Phe	141.0	0.0		371.0	16.0	NM_001005497		Missense_Mutation	SNP	ENST00000343399.3	hg19	CCDS31820.1	.	.	.	.	.	.	.	.	.	.	g	15.12	2.740123	0.49045	.	.	ENSG00000187857	ENST00000343399	T	0.40476	1.03	5.22	-0.481	0.12082	GPCR, rhodopsin-like superfamily (1);	0.201247	0.23896	N	0.043482	T	0.32224	0.0822	L	0.28274	0.84	0.09310	N	0.999996	P	0.45011	0.848	P	0.50825	0.651	T	0.15464	-1.0436	10	0.72032	D	0.01	.	3.0854	0.06276	0.2711:0.4368:0.1802:0.1119	.	209	A6NL08	O6C75_HUMAN	F	209	ENSP00000368987:L209F	ENSP00000368987:L209F	L	+	3	2	OR6C75	54045788	0.000000	0.05858	0.904000	0.35570	0.966000	0.64601	-2.394000	0.01054	-0.010000	0.14271	0.632000	0.83419	TTG	.	.		0.408	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1		
CNPY2	10330	hgsc.bcm.edu	37	12	56708752	56708752	+	Splice_Site	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:56708752T>C	ENST00000273308.4	-	3	629		c.e3-2		RP11-977G19.11_ENST00000549565.1_RNA|RP11-977G19.10_ENST00000549318.1_Splice_Site|PAN2_ENST00000549090.1_5'Flank|RP11-977G19.11_ENST00000549860.1_RNA|CNPY2_ENST00000551720.1_Splice_Site	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2						negative regulation of gene expression (GO:0010629)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of low-density lipoprotein particle clearance (GO:0010988)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(2)	4						CCCTGCATGCTGGTGGAAGAG	0.537																																					.		Atlas-SNP	.											.	CNPY2	16	.	0			c.89-2A>G						.						71.0	66.0	68.0					12																	56708752		2203	4300	6503	SO:0001630	splice_region_variant	10330	exon4			GCATGCTGGTGGA	AB015631	CCDS8914.1	12q15	2013-07-23	2013-07-23	2007-10-22		ENSG00000257727			13529	protein-coding gene	gene with protein product		605861	"""transmembrane protein 4"", ""canopy 2 homolog (zebrafish)"""	TMEM4		10072769, 15905959	Standard	NM_001190991		Approved	HP10390, ZSIG9, Cnpy2	uc001sku.2	Q9Y2B0	OTTHUMG00000170330	ENST00000273308.4:c.89-2A>G	chr12.hg19:g.56708752T>C		55.0	0.0		144.0	15.0	NM_014255	B2R7B9|Q9UHE9	Splice_Site	SNP	ENST00000273308.4	hg19	CCDS8914.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937588	0.52972	.	.	ENSG00000144785;ENSG00000144785;ENSG00000144785;ENSG00000257727;ENSG00000257727	ENST00000549318;ENST00000547423;ENST00000548360;ENST00000273308;ENST00000551475	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9233	0.70856	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	RP11-977G19.10;CNPY2	54995019	1.000000	0.71417	0.999000	0.59377	0.575000	0.36095	7.848000	0.86902	2.231000	0.72958	0.533000	0.62120	.	.	.		0.537	CNPY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408546.1	NM_014255	Intron
BAZ2A	11176	hgsc.bcm.edu	37	12	56993854	56993854	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:56993854C>A	ENST00000551812.1	-	25	5118	c.4925G>T	c.(4924-4926)cGt>cTt	p.R1642L	BAZ2A_ENST00000553222.1_5'Flank|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1612L|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1640L|BAZ2A_ENST00000179765.5_Missense_Mutation_p.R1610L	NM_013449.3	NP_038477.2	Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1642					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)	p.R1642H(2)		breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCGCCAGACACGAATGCGAGG	0.572																																					p.R1642L		Atlas-SNP	.											BAZ2A_ENST00000551812,colon,carcinoma,0,2	BAZ2A	263	.	2	Substitution - Missense(2)	large_intestine(2)	c.G4925T						.						81.0	82.0	82.0					12																	56993854		2002	4179	6181	SO:0001583	missense	11176	exon25			CAGACACGAATGC	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.4925G>T	chr12.hg19:g.56993854C>A	ENSP00000446880:p.Arg1642Leu	55.0	0.0		198.0	20.0	NM_013449	B3KN66|O00536|O15030|Q68DI8|Q96H26	Missense_Mutation	SNP	ENST00000551812.1	hg19	CCDS44924.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.001011	0.93227	.	.	ENSG00000076108	ENST00000379441;ENST00000179765;ENST00000551812;ENST00000549787;ENST00000549884	T;T;T;T;T	0.71698	-0.34;-0.34;-0.36;-0.59;-0.36	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.80428	0.4621	L	0.47716	1.5	0.80722	D	1	D;P;B;D	0.89917	0.999;0.524;0.272;1.0	D;P;B;D	0.91635	0.996;0.498;0.302;0.999	T	0.77305	-0.2637	10	0.35671	T	0.21	-14.6921	18.5763	0.91155	0.0:1.0:0.0:0.0	.	1640;1638;1642;1615	F8VU39;Q9UIF9-3;Q9UIF9;Q9UIF9-2	.;.;BAZ2A_HUMAN;.	L	1612;1610;1642;574;1640	ENSP00000368754:R1612L;ENSP00000179765:R1610L;ENSP00000446880:R1642L;ENSP00000448760:R574L;ENSP00000447941:R1640L	ENSP00000179765:R1610L	R	-	2	0	BAZ2A	55280121	1.000000	0.71417	0.962000	0.40283	0.989000	0.77384	5.568000	0.67385	2.763000	0.94921	0.650000	0.86243	CGT	.	.		0.572	BAZ2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408561.1	NM_013449	
LRP1	4035	hgsc.bcm.edu	37	12	57571304	57571304	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:57571304G>T	ENST00000243077.3	+	26	4757	c.4291G>T	c.(4291-4293)Ggc>Tgc	p.G1431C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1431					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGGGAGACCGGCTCTGGGGG	0.667																																					p.G1431C		Atlas-SNP	.											.	LRP1	428	.	0			c.G4291T						.						36.0	37.0	37.0					12																	57571304		2203	4300	6503	SO:0001583	missense	4035	exon26			GAGACCGGCTCTG	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4291G>T	chr12.hg19:g.57571304G>T	ENSP00000243077:p.Gly1431Cys	45.0	0.0		130.0	19.0	NM_002332	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	hg19	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632881	0.67015	.	.	ENSG00000123384	ENST00000243077	D	0.93604	-3.25	4.71	4.71	0.59529	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.94291	0.8166	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94669	0.7855	10	0.56958	D	0.05	.	16.9684	0.86293	0.0:0.0:1.0:0.0	.	1431	Q07954	LRP1_HUMAN	C	1431	ENSP00000243077:G1431C	ENSP00000243077:G1431C	G	+	1	0	LRP1	55857571	1.000000	0.71417	0.928000	0.36995	0.670000	0.39368	7.715000	0.84713	2.631000	0.89168	0.462000	0.41574	GGC	.	.		0.667	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332	
TBK1	29110	hgsc.bcm.edu	37	12	64882345	64882345	+	Silent	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:64882345A>G	ENST00000331710.5	+	12	1758	c.1419A>G	c.(1417-1419)agA>agG	p.R473R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	473					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|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)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TCTGTATCAGAAACATTGAAA	0.274																																					p.R473R		Atlas-SNP	.											.	TBK1	149	.	0			c.A1419G						.						49.0	50.0	49.0					12																	64882345		2196	4299	6495	SO:0001819	synonymous_variant	29110	exon12			TATCAGAAACATT	AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.1419A>G	chr12.hg19:g.64882345A>G		116.0	0.0		298.0	116.0	NM_013254	A8K4S4|Q8IYV3|Q9NUJ5	Silent	SNP	ENST00000331710.5	hg19	CCDS8968.1																																																																																			.	.		0.274	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401130.1	NM_013254	
WIF1	11197	hgsc.bcm.edu	37	12	65448938	65448938	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:65448938G>C	ENST00000286574.4	-	9	1352	c.978C>G	c.(976-978)tgC>tgG	p.C326W		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	326	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		CTTGACATTGGCATTTGTTGG	0.393			T	HMGA2	pleomorphic salivary gland adenoma																																p.C326W	Esophageal Squamous(148;1595 1816 48559 49439 49664)	Atlas-SNP	.		Dom	yes		12	12q14.3	11197	WNT inhibitory factor 1		E	.	WIF1	96	.	0			c.C978G						.						92.0	87.0	89.0					12																	65448938		2203	4300	6503	SO:0001583	missense	11197	exon9			ACATTGGCATTTG	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.978C>G	chr12.hg19:g.65448938G>C	ENSP00000286574:p.Cys326Trp	69.0	0.0		98.0	7.0	NM_007191	Q6UXI1|Q8WVG4	Missense_Mutation	SNP	ENST00000286574.4	hg19	CCDS8971.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.851565	0.51270	.	.	ENSG00000156076	ENST00000286574;ENST00000543094	D;D	0.99984	-11.36;-6.54	5.71	3.89	0.44902	EGF, extracellular (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99986	0.9997	H	0.95611	3.695	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.96261	0.9191	9	.	.	.	.	9.9417	0.41585	0.2071:0.0:0.7929:0.0	.	326	Q9Y5W5	WIF1_HUMAN	W	326;75	ENSP00000286574:C326W;ENSP00000439024:C75W	.	C	-	3	2	WIF1	63735205	1.000000	0.71417	0.998000	0.56505	0.601000	0.36947	3.540000	0.53611	0.887000	0.36136	0.655000	0.94253	TGC	.	.		0.393	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2		
OSBPL8	114882	hgsc.bcm.edu	37	12	76752567	76752567	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:76752567T>A	ENST00000261183.3	-	22	2832	c.2353A>T	c.(2353-2355)Aag>Tag	p.K785*	OSBPL8_ENST00000393250.4_Nonsense_Mutation_p.K743*|OSBPL8_ENST00000393249.2_Nonsense_Mutation_p.K743*	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	785					fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CTGGTTGGCTTATGTTTCATT	0.368																																					p.K785X		Atlas-SNP	.											.	OSBPL8	86	.	0			c.A2353T						.						194.0	173.0	180.0					12																	76752567		2203	4300	6503	SO:0001587	stop_gained	114882	exon22			TTGGCTTATGTTT	AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2353A>T	chr12.hg19:g.76752567T>A	ENSP00000261183:p.Lys785*	133.0	0.0		219.0	80.0	NM_020841	A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Nonsense_Mutation	SNP	ENST00000261183.3	hg19	CCDS31862.1	.	.	.	.	.	.	.	.	.	.	T	44	10.572060	0.99430	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250	.	.	.	5.88	5.88	0.94601	.	0.120578	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.2044	15.9407	0.79750	0.0:0.0:0.0:1.0	.	.	.	.	X	743;785;770;743	.	ENSP00000261183:K785X	K	-	1	0	OSBPL8	75276698	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.264000	0.51553	2.243000	0.73865	0.533000	0.62120	AAG	.	.		0.368	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000406357.1	NM_020841	
PTPRQ	374462	hgsc.bcm.edu	37	12	81004359	81004359	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:81004359G>C	ENST00000266688.5	+	33	4861	c.4861G>C	c.(4861-4863)Gaa>Caa	p.E1621Q				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	1667	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TGCATATGTAGAAGGGAAGTC	0.333																																					p.E1453Q		Atlas-SNP	.											.	PTPRQ	119	.	0			c.G4357C						.						89.0	71.0	76.0					12																	81004359		692	1589	2281	SO:0001583	missense	374462	exon25			TATGTAGAAGGGA	AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.4861G>C	chr12.hg19:g.81004359G>C	ENSP00000266688:p.Glu1621Gln	52.0	0.0		156.0	13.0	NM_001145026		Missense_Mutation	SNP	ENST00000266688.5	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.28|12.28	1.890434|1.890434	0.33348|0.33348	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000266688|ENST00000532722	T|.	0.37584|.	1.19|.	6.05|6.05	6.05|6.05	0.98169|0.98169	Fibronectin, type III (2);Immunoglobulin-like fold (1);|.	.|.	.|.	.|.	.|.	T|.	0.75946|.	0.3919|.	.|.	.|.	.|.	0.35947|0.35947	D|D	0.833661|0.833661	B|.	0.28713|.	0.22|.	B|.	0.34180|.	0.177|.	T|.	0.76774|.	-0.2835|.	8|.	0.13853|.	T|.	0.58|.	.|.	20.6013|20.6013	0.99457|0.99457	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1667|.	Q9UMZ3|.	PTPRQ_HUMAN|.	Q|Y	1621|1321	ENSP00000266688:E1621Q|.	ENSP00000266688:E1621Q|.	E|X	+|+	1|3	0|2	PTPRQ|PTPRQ	79528490|79528490	1.000000|1.000000	0.71417|0.71417	0.836000|0.836000	0.33094|0.33094	0.183000|0.183000	0.23260|0.23260	4.097000|4.097000	0.57741|0.57741	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAA|TAG	.	.		0.333	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001145026	
PPFIA2	8499	hgsc.bcm.edu	37	12	81746949	81746949	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:81746949G>T	ENST00000549396.1	-	17	2103	c.1943C>A	c.(1942-1944)aCg>aAg	p.T648K	PPFIA2_ENST00000550584.2_Missense_Mutation_p.T648K|PPFIA2_ENST00000443686.3_Missense_Mutation_p.T549K|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000541570.2_Missense_Mutation_p.T215K|PPFIA2_ENST00000333447.7_Missense_Mutation_p.T630K|PPFIA2_ENST00000548586.1_Missense_Mutation_p.T648K|PPFIA2_ENST00000407050.4_Missense_Mutation_p.T574K|PPFIA2_ENST00000552948.1_Missense_Mutation_p.T648K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.T630K|PPFIA2_ENST00000550359.2_Missense_Mutation_p.T495K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	648					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CATGGCTAGCGTCTGGGCATC	0.383																																					p.T648K		Atlas-SNP	.											.	PPFIA2	207	.	0			c.C1943A						.						148.0	142.0	144.0					12																	81746949		1952	4174	6126	SO:0001583	missense	8499	exon16			GCTAGCGTCTGGG	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.1943C>A	chr12.hg19:g.81746949G>T	ENSP00000450337:p.Thr648Lys	85.0	0.0		163.0	7.0	NM_001220476	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	hg19	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043873	0.93685	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948;ENST00000553058	T;T;T;T;T;T;T;T;T	0.23950	1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88;1.88	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.56863	0.2014	M	0.83312	2.635	0.80722	D	1	D	0.63880	0.993	D	0.74023	0.982	T	0.61811	-0.6986	10	0.66056	D	0.02	-17.3587	19.2605	0.93966	0.0:0.0:1.0:0.0	.	648	O75334	LIPA2_HUMAN	K	648;630;215;574;659;630;648;549;648;229	ENSP00000450337:T648K;ENSP00000450298:T630K;ENSP00000438337:T215K;ENSP00000385093:T574K;ENSP00000327416:T630K;ENSP00000449338:T648K;ENSP00000388373:T549K;ENSP00000447868:T648K;ENSP00000448941:T229K	ENSP00000327416:T630K	T	-	2	0	PPFIA2	80271080	1.000000	0.71417	0.958000	0.39756	0.960000	0.62799	9.799000	0.99117	2.534000	0.85438	0.585000	0.79938	ACG	.	.		0.383	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
ALX1	8092	hgsc.bcm.edu	37	12	85674229	85674229	+	Missense_Mutation	SNP	C	C	A	rs145944049	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:85674229C>A	ENST00000316824.3	+	1	345	c.190C>A	c.(190-192)Cgc>Agc	p.R64S		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	64					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCATCACGTGCGCTTGGAGAG	0.637																																					p.R64S		Atlas-SNP	.											.	ALX1	61	.	0			c.C190A						.						32.0	33.0	32.0					12																	85674229		2203	4300	6503	SO:0001583	missense	8092	exon1			CACGTGCGCTTGG	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.190C>A	chr12.hg19:g.85674229C>A	ENSP00000315417:p.Arg64Ser	20.0	0.0		45.0	24.0	NM_006982	Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	hg19	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784563	0.49997	.	.	ENSG00000180318	ENST00000316824	D	0.92199	-2.99	5.48	4.51	0.55191	.	0.188276	0.43747	D	0.000540	D	0.88760	0.6524	N	0.08118	0	0.44515	D	0.997462	D	0.53745	0.962	D	0.65010	0.931	D	0.84476	0.0602	10	0.10636	T	0.68	.	13.0251	0.58810	0.2775:0.7225:0.0:0.0	.	64	Q15699	ALX1_HUMAN	S	64	ENSP00000315417:R64S	ENSP00000315417:R64S	R	+	1	0	ALX1	84198360	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.730000	0.38125	2.563000	0.86464	0.655000	0.94253	CGC	.	C|0.997;T|0.003		0.637	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1	NM_006982	
FGD6	55785	hgsc.bcm.edu	37	12	95603522	95603522	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:95603522G>C	ENST00000343958.4	-	2	1761	c.1538C>G	c.(1537-1539)gCt>gGt	p.A513G	FGD6_ENST00000549499.1_Missense_Mutation_p.A513G|FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Missense_Mutation_p.A513G	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	513					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCGGAGGCAGCCTTTTTAAG	0.393																																					p.A513G		Atlas-SNP	.											.	FGD6	127	.	0			c.C1538G						.						68.0	75.0	73.0					12																	95603522		2198	4297	6495	SO:0001583	missense	55785	exon2			GAGGCAGCCTTTT	AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.1538C>G	chr12.hg19:g.95603522G>C	ENSP00000344446:p.Ala513Gly	79.0	0.0		184.0	8.0	NM_018351	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Missense_Mutation	SNP	ENST00000343958.4	hg19	CCDS31878.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.016558	0.75161	.	.	ENSG00000180263	ENST00000343958;ENST00000546711;ENST00000549499	T;T;T	0.73469	-0.64;-0.75;-0.72	6.04	6.04	0.98038	.	0.000000	0.48767	D	0.000171	D	0.85075	0.5614	M	0.64997	1.995	0.46564	D	0.999101	D	0.76494	0.999	D	0.65443	0.935	D	0.84873	0.0826	10	0.72032	D	0.01	-16.7761	20.5792	0.99380	0.0:0.0:1.0:0.0	.	513	Q6ZV73	FGD6_HUMAN	G	513	ENSP00000344446:A513G;ENSP00000450342:A513G;ENSP00000449005:A513G	ENSP00000344446:A513G	A	-	2	0	FGD6	94127653	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.262000	0.65501	2.873000	0.98535	0.561000	0.74099	GCT	.	.		0.393	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407600.1	NM_018351	
TMPO	7112	hgsc.bcm.edu	37	12	98938066	98938066	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:98938066G>A	ENST00000556029.1	+	5	1078	c.722G>A	c.(721-723)gGa>gAa	p.G241E	TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	241	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAAAAGGCGGACCTCTGCAG	0.408																																					p.G241E		Atlas-SNP	.											.	TMPO	111	.	0			c.G722A						.						86.0	87.0	87.0					12																	98938066		2203	4300	6503	SO:0001583	missense	7112	exon5			AAGGCGGACCTCT		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.722G>A	chr12.hg19:g.98938066G>A	ENSP00000450627:p.Gly241Glu	92.0	0.0		261.0	34.0	NM_001032283	A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	hg19	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.187716	0.78789	.	.	ENSG00000120802	ENST00000556029	T	0.71579	-0.58	5.75	5.75	0.90469	.	.	.	.	.	T	0.81735	0.4885	L	0.53249	1.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77167	-0.2687	9	0.28530	T	0.3	.	19.9478	0.97189	0.0:0.0:1.0:0.0	.	241	P42167	LAP2B_HUMAN	E	241	ENSP00000450627:G241E	ENSP00000340251:G241E	G	+	2	0	TMPO	97462197	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.473000	0.73572	2.712000	0.92718	0.591000	0.81541	GGA	.	.		0.408	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276	
ALDH1L2	160428	hgsc.bcm.edu	37	12	105464456	105464456	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:105464456A>G	ENST00000258494.9	-	3	460	c.320T>C	c.(319-321)tTc>tCc	p.F107S	RP11-61E11.1_ENST00000547750.1_RNA|ALDH1L2_ENST00000424857.2_Missense_Mutation_p.F107S	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	107	GART.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTGAGTGCAGAAAGGGAGCAC	0.498																																					p.F107S		Atlas-SNP	.											.	ALDH1L2	71	.	0			c.T320C						.						168.0	137.0	147.0					12																	105464456		2203	4300	6503	SO:0001583	missense	160428	exon3			GTGCAGAAAGGGA	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.320T>C	chr12.hg19:g.105464456A>G	ENSP00000258494:p.Phe107Ser	99.0	0.0		208.0	15.0	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Missense_Mutation	SNP	ENST00000258494.9	hg19	CCDS31891.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.683030	0.88542	.	.	ENSG00000136010	ENST00000258494;ENST00000424857	T;T	0.75367	-0.93;-0.93	5.27	5.27	0.74061	Formyl transferase, N-terminal (3);	0.047094	0.85682	D	0.000000	T	0.80607	0.4655	L	0.45470	1.425	0.80722	D	1	D	0.59767	0.986	D	0.72075	0.976	T	0.81924	-0.0710	10	0.72032	D	0.01	.	10.6981	0.45911	0.8576:0.0:0.0:0.1424	.	107	Q3SY69	AL1L2_HUMAN	S	107	ENSP00000258494:F107S;ENSP00000389608:F107S	ENSP00000258494:F107S	F	-	2	0	ALDH1L2	103988586	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.217000	0.77982	2.133000	0.65898	0.533000	0.62120	TTC	.	.		0.498	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
BRAP	8315	hgsc.bcm.edu	37	12	112093435	112093435	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:112093435G>C	ENST00000327551.6	-	10	1296	c.1156C>G	c.(1156-1158)Ctg>Gtg	p.L386V	BRAP_ENST00000419234.4_Missense_Mutation_p.L416V|BRAP_ENST00000539060.1_Missense_Mutation_p.L237V			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						TGAGATTCCAGCTGGCTTGTT	0.383																																					p.L416V	Pancreas(146;846 1904 7830 25130 26065)	Atlas-SNP	.											.	BRAP	42	.	0			c.C1246G						.						155.0	134.0	141.0					12																	112093435		2203	4300	6503	SO:0001583	missense	8315	exon10			ATTCCAGCTGGCT	AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.1156C>G	chr12.hg19:g.112093435G>C	ENSP00000330813:p.Leu386Val	75.0	0.0		124.0	12.0	NM_006768	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000327551.6	hg19		.	.	.	.	.	.	.	.	.	.	G	19.68	3.873277	0.72180	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.70164	-0.46;-0.46;-0.46	5.16	4.27	0.50696	.	0.000000	0.85682	D	0.000000	D	0.84000	0.5376	M	0.92459	3.31	0.80722	D	1	P;D	0.69078	0.956;0.997	P;D	0.78314	0.899;0.991	D	0.86081	0.1544	10	0.59425	D	0.04	-10.2253	10.9941	0.47565	0.1504:0.0:0.8496:0.0	.	237;416	B4DRM1;Q7Z569	.;BRAP_HUMAN	V	416;237;386;198	ENSP00000403524:L416V;ENSP00000441659:L237V;ENSP00000330813:L386V	ENSP00000330813:L386V	L	-	1	2	BRAP	110577818	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.188000	0.65093	1.181000	0.42912	0.561000	0.74099	CTG	.	.		0.383	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404994.2		
MED13L	23389	hgsc.bcm.edu	37	12	116429410	116429410	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:116429410C>T	ENST00000281928.3	-	17	3555	c.3349G>A	c.(3349-3351)Gat>Aat	p.D1117N		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1117						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		ATCACGGAATCGGAGAGAATC	0.527																																					p.D1117N		Atlas-SNP	.											.	MED13L	193	.	0			c.G3349A						.						61.0	60.0	61.0					12																	116429410		2203	4300	6503	SO:0001583	missense	23389	exon17			CGGAATCGGAGAG	AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3349G>A	chr12.hg19:g.116429410C>T	ENSP00000281928:p.Asp1117Asn	47.0	0.0		209.0	21.0	NM_015335	A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	ENST00000281928.3	hg19	CCDS9177.1	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708388	0.68615	.	.	ENSG00000123066	ENST00000281928	D	0.86097	-2.07	5.18	5.18	0.71444	.	0.140018	0.64402	D	0.000006	D	0.83312	0.5227	M	0.64997	1.995	0.80722	D	1	P	0.39551	0.678	B	0.33339	0.162	D	0.86056	0.1529	10	0.87932	D	0	.	18.8897	0.92395	0.0:1.0:0.0:0.0	.	1117	Q71F56	MD13L_HUMAN	N	1117	ENSP00000281928:D1117N	ENSP00000281928:D1117N	D	-	1	0	MED13L	114913793	1.000000	0.71417	0.935000	0.37517	0.843000	0.47879	7.320000	0.79064	2.699000	0.92147	0.460000	0.39030	GAT	.	.		0.527	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403879.3		
DNAH10	196385	hgsc.bcm.edu	37	12	124305198	124305198	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:124305198G>T	ENST00000409039.3	+	23	3743	c.3718G>T	c.(3718-3720)Gct>Tct	p.A1240S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1240	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		ACTGGCTAACGCTGAGAAACT	0.428																																					p.A1240S		Atlas-SNP	.											.	DNAH10	888	.	0			c.G3718T						.						123.0	125.0	125.0					12																	124305198		1907	4132	6039	SO:0001583	missense	196385	exon23			GCTAACGCTGAGA	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.3718G>T	chr12.hg19:g.124305198G>T	ENSP00000386770:p.Ala1240Ser	81.0	0.0		174.0	14.0	NM_207437	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	hg19	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622632	0.46840	.	.	ENSG00000197653	ENST00000409039	T	0.22539	1.95	5.18	5.18	0.71444	.	.	.	.	.	T	0.39572	0.1083	M	0.72479	2.2	0.53688	D	0.999971	D	0.53745	0.962	P	0.58013	0.831	T	0.19976	-1.0289	9	0.09843	T	0.71	.	18.6962	0.91601	0.0:0.0:1.0:0.0	.	1240	Q8IVF4	DYH10_HUMAN	S	1240	ENSP00000386770:A1240S	ENSP00000386770:A1240S	A	+	1	0	DNAH10	122871151	1.000000	0.71417	0.819000	0.32651	0.092000	0.18411	5.607000	0.67648	2.409000	0.81822	0.555000	0.69702	GCT	.	.		0.428	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
DHX37	57647	hgsc.bcm.edu	37	12	125453127	125453127	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:125453127C>A	ENST00000308736.2	-	10	1459	c.1361G>T	c.(1360-1362)gGc>gTc	p.G454V	DHX37_ENST00000544745.1_Missense_Mutation_p.G241V	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	454							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		GAAGCACTCGCCACTGTAGTC	0.612																																					p.G454V		Atlas-SNP	.											.	DHX37	114	.	0			c.G1361T						.						133.0	133.0	133.0					12																	125453127		2203	4300	6503	SO:0001583	missense	57647	exon10			CACTCGCCACTGT	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.1361G>T	chr12.hg19:g.125453127C>A	ENSP00000311135:p.Gly454Val	15.0	0.0		57.0	7.0	NM_032656	Q9BUI7|Q9P211	Missense_Mutation	SNP	ENST00000308736.2	hg19	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756702	0.31137	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03831	3.79;3.79	4.6	4.6	0.57074	.	0.104012	0.64402	D	0.000003	T	0.07773	0.0195	M	0.63428	1.95	0.80722	D	1	B	0.14438	0.01	B	0.17098	0.017	T	0.12372	-1.0550	10	0.32370	T	0.25	-27.7653	13.9708	0.64240	0.0:0.847:0.153:0.0	.	454	Q8IY37	DHX37_HUMAN	V	454;241	ENSP00000311135:G454V;ENSP00000439009:G241V	ENSP00000311135:G454V	G	-	2	0	DHX37	124019080	0.998000	0.40836	0.770000	0.31555	0.759000	0.43091	3.530000	0.53539	2.263000	0.75096	0.561000	0.74099	GGC	.	.		0.612	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	
ZNF10	7556	hgsc.bcm.edu	37	12	133733009	133733009	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:133733009A>G	ENST00000248211.6	+	5	1399	c.1177A>G	c.(1177-1179)Att>Gtt	p.I393V	ZNF10_ENST00000402932.2_Missense_Mutation_p.I259V|ZNF10_ENST00000426665.2_Missense_Mutation_p.I393V|ZNF268_ENST00000416488.1_Intron|CTD-2140B24.4_ENST00000540096.2_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	393					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(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CACACATCTCATTCTGCATCA	0.438																																					p.I393V		Atlas-SNP	.											.	ZNF10	58	.	0			c.A1177G						.						161.0	162.0	162.0					12																	133733009		2203	4300	6503	SO:0001583	missense	7556	exon5			CATCTCATTCTGC	X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1177A>G	chr12.hg19:g.133733009A>G	ENSP00000248211:p.Ile393Val	80.0	0.0		184.0	13.0	NM_015394	B2RBS1|Q8TC91	Missense_Mutation	SNP	ENST00000248211.6	hg19	CCDS9283.1	.	.	.	.	.	.	.	.	.	.	A	1.364	-0.588059	0.03799	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.15017	2.46;2.46;2.46	3.73	1.16	0.20824	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.021450	0.07856	N	0.965538	T	0.10165	0.0249	N	0.21282	0.65	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40608	-0.9554	9	.	.	.	.	4.1126	0.10065	0.6048:0.1785:0.2168:0.0	.	393	P21506	ZNF10_HUMAN	V	393;393;259	ENSP00000248211:I393V;ENSP00000393814:I393V;ENSP00000384893:I259V	.	I	+	1	0	ZNF10	132243082	0.000000	0.05858	0.992000	0.48379	0.994000	0.84299	-0.455000	0.06762	0.109000	0.17891	0.533000	0.62120	ATT	.	.		0.438	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397182.1	NM_015394	
NBEA	26960	hgsc.bcm.edu	37	13	35731313	35731313	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:35731313A>G	ENST00000400445.3	+	21	3284	c.2750A>G	c.(2749-2751)tAc>tGc	p.Y917C	NBEA_ENST00000310336.4_Missense_Mutation_p.Y917C|NBEA_ENST00000540320.1_Missense_Mutation_p.Y917C|NBEA_ENST00000379939.2_Missense_Mutation_p.Y917C	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	917					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAATGGTCTACAATATCTTC	0.408																																					p.Y917C		Atlas-SNP	.											.	NBEA	340	.	0			c.A2750G						.						115.0	113.0	114.0					13																	35731313		1826	4081	5907	SO:0001583	missense	26960	exon21			TGGTCTACAATAT	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.2750A>G	chr13.hg19:g.35731313A>G	ENSP00000383295:p.Tyr917Cys	101.0	0.0		193.0	34.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	A	19.82	3.898496	0.72639	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.77280	0.4107	M	0.69248	2.105	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.79022	-0.1973	10	0.56958	D	0.05	.	15.6702	0.77267	1.0:0.0:0.0:0.0	.	917	Q5T321	.	C	917	ENSP00000440951:Y917C;ENSP00000383295:Y917C;ENSP00000369271:Y917C;ENSP00000308534:Y917C	ENSP00000308534:Y917C	Y	+	2	0	NBEA	34629313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.171000	0.68590	0.528000	0.53228	TAC	.	.		0.408	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
NBEA	26960	hgsc.bcm.edu	37	13	35756573	35756573	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:35756573G>A	ENST00000400445.3	+	29	5273	c.4739G>A	c.(4738-4740)cGt>cAt	p.R1580H	NBEA_ENST00000310336.4_Missense_Mutation_p.R1580H|NBEA_ENST00000540320.1_Missense_Mutation_p.R1580H|NBEA_ENST00000379939.2_Missense_Mutation_p.R1577H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1580					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)		p.R1580H(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TCCAAGTATCGTGACATATTA	0.388																																					p.R1580H		Atlas-SNP	.											NBEA,NS,carcinoma,0,1	NBEA	340	.	1	Substitution - Missense(1)	endometrium(1)	c.G4739A						.						133.0	122.0	126.0					13																	35756573		1833	4088	5921	SO:0001583	missense	26960	exon29			AGTATCGTGACAT	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4739G>A	chr13.hg19:g.35756573G>A	ENSP00000383295:p.Arg1580His	120.0	0.0		262.0	25.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	ENST00000400445.3	hg19	CCDS45026.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424444	0.96111	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.69306	-0.39;-0.38;-0.39;-0.39	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83248	0.5213	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.84686	0.0720	10	0.87932	D	0	.	19.6933	0.96010	0.0:0.0:1.0:0.0	.	1580;1577	Q8NFP9;Q5T321	NBEA_HUMAN;.	H	1580;1580;1577;1580;239	ENSP00000440951:R1580H;ENSP00000383295:R1580H;ENSP00000369271:R1577H;ENSP00000308534:R1580H	ENSP00000308534:R1580H	R	+	2	0	NBEA	34654573	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	9.869000	0.99810	2.651000	0.90000	0.467000	0.42956	CGT	.	.		0.388	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
MAB21L1	4081	hgsc.bcm.edu	37	13	36050193	36050193	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:36050193G>T	ENST00000379919.4	-	1	639	c.83C>A	c.(82-84)gCc>gAc	p.A28D	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	28					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GATAGTTTTGGCAATGGCAGC	0.507																																					p.A28D		Atlas-SNP	.											.	MAB21L1	52	.	0			c.C83A						.						101.0	104.0	103.0					13																	36050193		2203	4300	6503	SO:0001583	missense	4081	exon1			GTTTTGGCAATGG	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.83C>A	chr13.hg19:g.36050193G>T	ENSP00000369251:p.Ala28Asp	51.0	0.0		119.0	14.0	NM_005584	Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	hg19	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.706307	0.48412	.	.	ENSG00000180660	ENST00000379919	T	0.18960	2.18	5.76	5.76	0.90799	.	0.155272	0.64402	D	0.000020	T	0.25457	0.0619	M	0.61703	1.905	0.51767	D	0.99993	B	0.26845	0.161	B	0.27608	0.081	T	0.01661	-1.1301	10	0.34782	T	0.22	-3.2857	15.1394	0.72599	0.0695:0.0:0.9305:0.0	.	28	Q13394	MB211_HUMAN	D	28	ENSP00000369251:A28D	ENSP00000369251:A28D	A	-	2	0	MAB21L1	34948193	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC	.	.		0.507	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584	
FREM2	341640	hgsc.bcm.edu	37	13	39265055	39265055	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:39265055G>T	ENST00000280481.7	+	1	3790	c.3574G>T	c.(3574-3576)Gag>Tag	p.E1192*		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1192					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGAACAGCCAGAGATGTTTAT	0.418																																					p.E1192X		Atlas-SNP	.											.	FREM2	385	.	0			c.G3574T						.						229.0	219.0	222.0					13																	39265055		2203	4300	6503	SO:0001587	stop_gained	341640	exon1			CAGCCAGAGATGT	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3574G>T	chr13.hg19:g.39265055G>T	ENSP00000280481:p.Glu1192*	128.0	0.0		313.0	40.0	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Nonsense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	44	11.144798	0.99522	.	.	ENSG00000150893	ENST00000280481	.	.	.	6.07	6.07	0.98685	.	0.199491	0.52532	D	0.000079	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	.	.	.	X	1192	.	ENSP00000280481:E1192X	E	+	1	0	FREM2	38163055	1.000000	0.71417	0.997000	0.53966	0.788000	0.44548	9.864000	0.99589	2.890000	0.99128	0.650000	0.86243	GAG	.	.		0.418	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
FREM2	341640	hgsc.bcm.edu	37	13	39265478	39265478	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:39265478G>C	ENST00000280481.7	+	1	4213	c.3997G>C	c.(3997-3999)Gat>Cat	p.D1333H		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1333					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1333Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AACAGATTTAGATTCAGAAGA	0.353																																					p.D1333H		Atlas-SNP	.											FREM2,rectum,carcinoma,0,1	FREM2	385	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3997C						.						76.0	80.0	79.0					13																	39265478		2203	4300	6503	SO:0001583	missense	341640	exon1			GATTTAGATTCAG	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3997G>C	chr13.hg19:g.39265478G>C	ENSP00000280481:p.Asp1333His	41.0	0.0		188.0	28.0	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	hg19	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781469	0.70222	.	.	ENSG00000150893	ENST00000280481	T	0.74106	-0.81	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	D	0.92047	0.7480	H	0.97611	4.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93768	0.7072	10	0.87932	D	0	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	1333	Q5SZK8	FREM2_HUMAN	H	1333	ENSP00000280481:D1333H	ENSP00000280481:D1333H	D	+	1	0	FREM2	38163478	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.864000	0.99589	2.894000	0.99253	0.655000	0.94253	GAT	.	.		0.353	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
AKAP11	11215	hgsc.bcm.edu	37	13	42877120	42877120	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:42877120C>A	ENST00000025301.2	+	8	4413	c.4238C>A	c.(4237-4239)tCa>tAa	p.S1413*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1413					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTAATGTTTTCAAACAAAGAG	0.383																																					p.S1413X		Atlas-SNP	.											.	AKAP11	146	.	0			c.C4238A						.						48.0	51.0	50.0					13																	42877120		2203	4300	6503	SO:0001587	stop_gained	11215	exon8			TGTTTTCAAACAA	AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4238C>A	chr13.hg19:g.42877120C>A	ENSP00000025301:p.Ser1413*	39.0	0.0		76.0	7.0	NM_016248	O75124|Q9NUK7	Nonsense_Mutation	SNP	ENST00000025301.2	hg19	CCDS9383.1	.	.	.	.	.	.	.	.	.	.	C	38	6.961113	0.97964	.	.	ENSG00000023516	ENST00000025301	.	.	.	5.58	4.55	0.56014	.	0.437976	0.20911	N	0.083466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	.	3.6947	0.08360	0.0:0.1427:0.2294:0.628	.	.	.	.	X	1413	.	ENSP00000025301:S1413X	S	+	2	0	AKAP11	41775120	0.001000	0.12720	0.159000	0.22649	0.077000	0.17291	0.934000	0.28910	1.138000	0.42230	0.557000	0.71058	TCA	.	.		0.383	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044700.2	NM_016248	
PCDH17	27253	hgsc.bcm.edu	37	13	58207559	58207559	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:58207559C>T	ENST00000377918.3	+	1	905	c.879C>T	c.(877-879)ctC>ctT	p.L293L		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGCGGGAGCTCTTCTCCATCG	0.582																																					p.L293L	Melanoma(72;952 1291 1619 12849 33676)	Atlas-SNP	.											.	PCDH17	304	.	0			c.C879T						.						56.0	53.0	54.0					13																	58207559		2203	4300	6503	SO:0001819	synonymous_variant	27253	exon1			GGAGCTCTTCTCC	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.879C>T	chr13.hg19:g.58207559C>T		47.0	0.0		89.0	10.0	NM_001040429	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	hg19	CCDS31986.1																																																																																			.	.		0.582	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
COL4A2	1284	hgsc.bcm.edu	37	13	111082761	111082761	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:111082761A>G	ENST00000360467.5	+	9	869	c.563A>G	c.(562-564)gAg>gGg	p.E188G	COL4A2_ENST00000462309.1_3'UTR	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	188	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GAACCTGGAGAGCCTGGATTG	0.358																																					p.E188G		Atlas-SNP	.											.	COL4A2	178	.	0			c.A563G						.						86.0	85.0	85.0					13																	111082761		1807	4070	5877	SO:0001583	missense	1284	exon9			CTGGAGAGCCTGG	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.563A>G	chr13.hg19:g.111082761A>G	ENSP00000353654:p.Glu188Gly	62.0	0.0		187.0	8.0	NM_001846	Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	hg19	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	A	9.789	1.177348	0.21787	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.93906	-3.31	5.19	5.19	0.71726	.	0.504141	0.17796	N	0.161738	D	0.94039	0.8090	M	0.76838	2.35	0.38545	D	0.949315	P	0.41784	0.762	P	0.48063	0.565	D	0.92822	0.6273	10	0.16896	T	0.51	.	13.6015	0.62022	1.0:0.0:0.0:0.0	.	188	P08572	CO4A2_HUMAN	G	188	ENSP00000353654:E188G	ENSP00000257309:E188G	E	+	2	0	COL4A2	109880762	0.899000	0.30636	0.967000	0.41034	0.394000	0.30568	2.243000	0.43115	1.943000	0.56356	0.528000	0.53228	GAG	.	.		0.358	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
COL4A2	1284	hgsc.bcm.edu	37	13	111117937	111117937	+	Silent	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:111117937G>A	ENST00000360467.5	+	25	2268	c.1962G>A	c.(1960-1962)ggG>ggA	p.G654G	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	654	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GCCCCGCAGGGACCCCAGGAC	0.577																																					p.G654G		Atlas-SNP	.											.	COL4A2	178	.	0			c.G1962A						.						24.0	28.0	27.0					13																	111117937		1884	4103	5987	SO:0001819	synonymous_variant	1284	exon25			CGCAGGGACCCCA	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1962G>A	chr13.hg19:g.111117937G>A		28.0	0.0		66.0	25.0	NM_001846	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	hg19	CCDS41907.1																																																																																			.	.		0.577	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
KLHL33	123103	hgsc.bcm.edu	37	14	20897958	20897958	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:20897958G>T	ENST00000344581.4	-	2	1099	c.877C>A	c.(877-879)Ctc>Atc	p.L293I		NM_001109997.2	NP_001103467.2	A6NCF5	KLH33_HUMAN	kelch-like family member 33	293												all_cancers(95;0.00123)		Epithelial(56;7.57e-08)|all cancers(55;8.63e-07)	GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193)		TTATACCTGAGAGTTGAAGCC	0.577																																					p.L293I		Atlas-SNP	.											.	KLHL33	37	.	0			c.C877A						.						45.0	42.0	43.0					14																	20897958		692	1591	2283	SO:0001583	missense	123103	exon2			ACCTGAGAGTTGA		CCDS53882.1	14q11.2	2013-10-15	2013-02-22		ENSG00000185271	ENSG00000185271		"""Kelch-like"""	31952	protein-coding gene	gene with protein product			"""kelch-like 33 (Drosophila)"""				Standard	NM_001109997		Approved		uc010tli.2	A6NCF5	OTTHUMG00000170982	ENST00000344581.4:c.877C>A	chr14.hg19:g.20897958G>T	ENSP00000341549:p.Leu293Ile	32.0	0.0		100.0	8.0	NM_001109997		Missense_Mutation	SNP	ENST00000344581.4	hg19	CCDS53882.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.313218	0.23908	.	.	ENSG00000185271	ENST00000344581	T	0.67345	-0.26	4.88	3.98	0.46160	Kelch-type beta propeller (1);	0.236080	0.37393	N	0.002104	T	0.58380	0.2118	L	0.54323	1.7	0.43522	D	0.995796	B	0.19817	0.039	B	0.18871	0.023	T	0.59193	-0.7500	10	0.72032	D	0.01	.	7.2719	0.26262	0.1953:0.0:0.8047:0.0	.	293	A6NCF5	KLH33_HUMAN	I	293	ENSP00000341549:L293I	ENSP00000341549:L293I	L	-	1	0	KLHL33	19967798	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.174000	0.50847	1.256000	0.44068	0.655000	0.94253	CTC	.	.		0.577	KLHL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411038.1	XM_063481	
MYH6	4624	hgsc.bcm.edu	37	14	23866803	23866803	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:23866803T>A	ENST00000356287.3	-	15	1940	c.1911A>T	c.(1909-1911)aaA>aaT	p.K637N	MYH6_ENST00000405093.3_Missense_Mutation_p.K637N			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	637	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTTGCCTCCTTTGCTTTTAC	0.572																																					p.K637N		Atlas-SNP	.											.	MYH6	274	.	0			c.A1911T						.						94.0	89.0	91.0					14																	23866803		2203	4300	6503	SO:0001583	missense	4624	exon16			GCCTCCTTTGCTT	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1911A>T	chr14.hg19:g.23866803T>A	ENSP00000348634:p.Lys637Asn	39.0	0.0		110.0	15.0	NM_002471	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	hg19	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	17.79	3.475098	0.63737	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.88201	-2.35;-2.35	4.27	4.27	0.50696	Myosin head, motor domain (2);	.	.	.	.	D	0.92270	0.7548	M	0.74881	2.28	0.50813	D	0.999891	P	0.44986	0.847	P	0.59056	0.851	D	0.92455	0.5973	9	0.72032	D	0.01	.	9.2762	0.37700	0.0:0.0893:0.0:0.9107	.	637	P13533	MYH6_HUMAN	N	637	ENSP00000386041:K637N;ENSP00000348634:K637N	ENSP00000348634:K637N	K	-	3	2	MYH6	22936643	0.988000	0.35896	1.000000	0.80357	0.917000	0.54804	0.286000	0.18902	1.933000	0.56026	0.533000	0.62120	AAA	.	.		0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
NOVA1	4857	hgsc.bcm.edu	37	14	26917704	26917704	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:26917704G>T	ENST00000539517.2	-	5	1302	c.985C>A	c.(985-987)Ctc>Atc	p.L329I	NOVA1_ENST00000465357.2_Missense_Mutation_p.L305I|NOVA1_ENST00000267422.7_Missense_Mutation_p.L207I	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	332	Ala-rich.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AAAGTGTTGAGATTATATCCA	0.502																																					p.L329I		Atlas-SNP	.											.	NOVA1	146	.	0			c.C985A						.						52.0	48.0	50.0					14																	26917704		2203	4300	6503	SO:0001583	missense	4857	exon5			TGTTGAGATTATA	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.985C>A	chr14.hg19:g.26917704G>T	ENSP00000438875:p.Leu329Ile	26.0	0.0		78.0	8.0	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	hg19	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	4.892	0.165831	0.09339	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422	T;T;T	0.34472	1.37;1.36;1.37	5.93	5.93	0.95920	.	0.168630	0.41712	D	0.000828	T	0.20251	0.0487	N	0.08118	0	0.53005	D	0.999967	B;B;P	0.35872	0.092;0.256;0.525	B;B;B	0.30572	0.018;0.055;0.117	T	0.09530	-1.0670	10	0.10902	T	0.67	-5.7973	20.3363	0.98740	0.0:0.0:1.0:0.0	.	332;305;329	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	I	305;329;207	ENSP00000447391:L305I;ENSP00000438875:L329I;ENSP00000267422:L207I	ENSP00000267422:L207I	L	-	1	0	NOVA1	25987544	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.392000	0.79840	2.814000	0.96858	0.563000	0.77884	CTC	.	.		0.502	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
MAP4K5	11183	hgsc.bcm.edu	37	14	50915494	50915494	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:50915494T>C	ENST00000013125.4	-	15	1390	c.1072A>G	c.(1072-1074)Atg>Gtg	p.M358V	RP11-406H23.2_ENST00000555257.1_lincRNA	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	358					activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					ATTCTTACCATTTCATCTCGT	0.284																																					p.M358V		Atlas-SNP	.											.	MAP4K5	48	.	0			c.A1072G						.						82.0	76.0	78.0					14																	50915494		1801	4063	5864	SO:0001583	missense	11183	exon15			TTACCATTTCATC	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.1072A>G	chr14.hg19:g.50915494T>C	ENSP00000013125:p.Met358Val	67.0	0.0		141.0	23.0	NM_006575	Q8IYF6	Missense_Mutation	SNP	ENST00000013125.4	hg19		.	.	.	.	.	.	.	.	.	.	T	10.38	1.334513	0.24253	.	.	ENSG00000012983	ENST00000013125	T	0.12879	2.64	5.79	4.64	0.57946	Protein kinase-like domain (1);	0.091042	0.64402	N	0.000001	T	0.13586	0.0329	L	0.51422	1.61	0.45528	D	0.998486	B;B;B	0.22480	0.0;0.036;0.07	B;B;B	0.22753	0.0;0.041;0.016	T	0.05649	-1.0872	10	0.24483	T	0.36	.	10.9645	0.47403	0.0:0.0742:0.0:0.9258	.	32;358;358	B3KWC4;B2R928;Q9Y4K4	.;.;M4K5_HUMAN	V	358	ENSP00000013125:M358V	ENSP00000013125:M358V	M	-	1	0	MAP4K5	49985244	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.266000	0.51569	0.996000	0.38943	0.533000	0.62120	ATG	.	.		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410880.1	NM_006575	
TMEM260	54916	hgsc.bcm.edu	37	14	57070549	57070549	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:57070549G>A	ENST00000261556.6	+	4	483	c.361G>A	c.(361-363)Gct>Act	p.A121T	TMEM260_ENST00000536419.1_Intron|TMEM260_ENST00000538838.1_Missense_Mutation_p.A121T	NM_017799.3	NP_060269.3	Q9NX78	TM260_HUMAN	transmembrane protein 260	121						integral component of membrane (GO:0016021)											TGGCTCATCTGCTGGAGGAAT	0.413																																					p.A121T		Atlas-SNP	.											.	.	.	.	0			c.G361A						.						104.0	107.0	106.0					14																	57070549		2203	4300	6503	SO:0001583	missense	0	exon4			TCATCTGCTGGAG	AK000399	CCDS9727.2	14q22.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000070269	ENSG00000070269			20185	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 101"""	C14orf101			Standard	XR_245695		Approved	FLJ20392	uc001xcm.3	Q9NX78	OTTHUMG00000152337	ENST00000261556.6:c.361G>A	chr14.hg19:g.57070549G>A	ENSP00000261556:p.Ala121Thr	135.0	0.0		303.0	24.0	NM_017799	A8KAN4|B3KPF5|Q86XE1	Missense_Mutation	SNP	ENST00000261556.6	hg19	CCDS9727.2	.	.	.	.	.	.	.	.	.	.	G	22.3	4.273708	0.80580	.	.	ENSG00000070269	ENST00000261556;ENST00000538838	T;T	0.49432	1.37;0.78	5.88	5.88	0.94601	.	0.054747	0.64402	D	0.000001	T	0.46927	0.1418	L	0.45051	1.395	0.80722	D	1	P	0.43477	0.808	B	0.43082	0.407	T	0.19745	-1.0296	10	0.20046	T	0.44	-11.5948	20.2381	0.98363	0.0:0.0:1.0:0.0	.	121	Q9NX78	CN101_HUMAN	T	121	ENSP00000261556:A121T;ENSP00000441934:A121T	ENSP00000261556:A121T	A	+	1	0	C14orf101	56140302	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	6.781000	0.75068	2.779000	0.95612	0.650000	0.86243	GCT	.	.		0.413	TMEM260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276924.1	NM_017799	
DAAM1	23002	hgsc.bcm.edu	37	14	59820665	59820665	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:59820665T>A	ENST00000395125.1	+	19	2392	c.2369T>A	c.(2368-2370)gTg>gAg	p.V790E	DAAM1_ENST00000553966.1_Intron|DAAM1_ENST00000360909.3_Missense_Mutation_p.V780E|DAAM1_ENST00000351081.1_Missense_Mutation_p.V790E	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	790	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	identical protein binding (GO:0042802)			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGCAGAAGTGAAACCTAAA	0.363																																					p.V790E		Atlas-SNP	.											.	DAAM1	95	.	0			c.T2369A						.						98.0	87.0	91.0					14																	59820665		2203	4300	6503	SO:0001583	missense	23002	exon19			CAGAAGTGAAACC	AB014566	CCDS9737.1, CCDS58323.1	14q22.3	2008-08-11			ENSG00000100592	ENSG00000100592			18142	protein-coding gene	gene with protein product		606626				11779461, 18162551	Standard	NM_014992		Approved	KIAA0666	uc031qou.1	Q9Y4D1	OTTHUMG00000140326	ENST00000395125.1:c.2369T>A	chr14.hg19:g.59820665T>A	ENSP00000378557:p.Val790Glu	71.0	0.0		157.0	11.0	NM_014992	Q86U34|Q8N1Z8|Q8TB39	Missense_Mutation	SNP	ENST00000395125.1	hg19	CCDS9737.1	.	.	.	.	.	.	.	.	.	.	t	22.9	4.347348	0.82022	.	.	ENSG00000100592	ENST00000360909;ENST00000351081;ENST00000395125	T;T;T	0.19532	2.14;2.14;2.14	6.03	6.03	0.97812	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.050329	0.85682	D	0.000000	T	0.49949	0.1587	M	0.81802	2.56	0.58432	D	0.999995	D;D	0.69078	0.994;0.997	D;D	0.70227	0.949;0.968	T	0.54166	-0.8334	10	0.87932	D	0	.	16.5808	0.84714	0.0:0.0:0.0:1.0	.	780;790	Q9Y4D1-2;Q9Y4D1	.;DAAM1_HUMAN	E	780;790;790	ENSP00000354162:V780E;ENSP00000247170:V790E;ENSP00000378557:V790E	ENSP00000247170:V790E	V	+	2	0	DAAM1	58890418	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.183000	0.72002	2.317000	0.78254	0.524000	0.50904	GTG	.	.		0.363	DAAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276942.2	NM_014992	
C14orf39	317761	hgsc.bcm.edu	37	14	60921835	60921835	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:60921835C>G	ENST00000321731.3	-	16	1546	c.1387G>C	c.(1387-1389)Gtt>Ctt	p.V463L		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	463					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TCTGTTTGAACTTCAGGTACT	0.299																																					p.V463L		Atlas-SNP	.											.	C14orf39	79	.	0			c.G1387C						.						58.0	63.0	61.0					14																	60921835		2201	4291	6492	SO:0001583	missense	317761	exon16			TTTGAACTTCAGG	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1387G>C	chr14.hg19:g.60921835C>G	ENSP00000324920:p.Val463Leu	110.0	0.0		280.0	16.0	NM_174978	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	hg19	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656197	0.29425	.	.	ENSG00000179008	ENST00000321731	T	0.22336	1.96	5.84	-0.985	0.10256	.	1.016140	0.07853	N	0.965033	T	0.10981	0.0268	N	0.22421	0.69	0.09310	N	1	B	0.19817	0.039	B	0.18871	0.023	T	0.36915	-0.9728	9	.	.	.	2.2271	1.9519	0.03368	0.1248:0.452:0.1214:0.3018	.	463	Q8N1H7	S6OS1_HUMAN	L	463	ENSP00000324920:V463L	.	V	-	1	0	C14orf39	59991588	0.008000	0.16893	0.247000	0.24249	0.990000	0.78478	-0.400000	0.07241	-0.152000	0.11156	0.561000	0.74099	GTT	.	.		0.299	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
PRKCH	5583	hgsc.bcm.edu	37	14	61997206	61997206	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:61997206G>T	ENST00000332981.5	+	12	2039	c.1654G>T	c.(1654-1656)Gcg>Tcg	p.A552S	RP11-47I22.4_ENST00000556347.1_Silent_p.T56T|PRKCH_ENST00000555082.1_Missense_Mutation_p.A391S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	552	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|negative regulation of glial cell apoptotic process (GO:0034351)|platelet activation (GO:0030168)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein kinase C signaling (GO:0070528)|protein phosphorylation (GO:0006468)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CTGTGGTCACGCGCCTTTTGA	0.552																																					p.A552S	Melanoma(135;863 1779 8064 14443 26348)	Atlas-SNP	.											PRKCH,colon,carcinoma,-1,1	PRKCH	89	.	0			c.G1654T						.						225.0	180.0	195.0					14																	61997206		2203	4300	6503	SO:0001583	missense	5583	exon12			GGTCACGCGCCTT	M55284	CCDS9752.1	14q23.1	2009-07-10			ENSG00000027075	ENSG00000027075	2.7.11.1		9403	protein-coding gene	gene with protein product		605437		PRKCL		1986216, 1545821	Standard	NM_006255		Approved	PKC-L, PKCL	uc001xfn.3	P24723	OTTHUMG00000152341	ENST00000332981.5:c.1654G>T	chr14.hg19:g.61997206G>T	ENSP00000329127:p.Ala552Ser	73.0	0.0		137.0	8.0	NM_006255	B4DJN5|Q16246|Q8NE03	Missense_Mutation	SNP	ENST00000332981.5	hg19	CCDS9752.1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588420	0.28357	.	.	ENSG00000027075	ENST00000555185;ENST00000332981;ENST00000555082	T;T;T	0.65549	-0.16;1.88;1.88	5.63	5.63	0.86233	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	0.64402	D	0.000011	T	0.62877	0.2464	N	0.17345	0.48	0.80722	D	1	D	0.53312	0.959	D	0.67548	0.952	T	0.54364	-0.8305	10	0.02654	T	1	.	19.6972	0.96030	0.0:0.0:1.0:0.0	.	552	P24723	KPCL_HUMAN	S	120;552;391	ENSP00000451871:A120S;ENSP00000329127:A552S;ENSP00000450981:A391S	ENSP00000329127:A552S	A	+	1	0	PRKCH	61066959	1.000000	0.71417	0.268000	0.24571	0.241000	0.25554	4.418000	0.59828	2.663000	0.90544	0.650000	0.86243	GCG	.	.		0.552	PRKCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276974.2	NM_006255	
HIF1A	3091	hgsc.bcm.edu	37	14	62207716	62207716	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:62207716A>T	ENST00000337138.4	+	12	2168	c.1903A>T	c.(1903-1905)Att>Ttt	p.I635F	HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.I635F|HIF1A_ENST00000394997.1_Missense_Mutation_p.I636F|HIF1A_ENST00000557538.1_Missense_Mutation_p.I576F|HIF1A_ENST00000539097.1_Missense_Mutation_p.I659F|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	635	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TATGGAAGACATTAAAATATT	0.408																																					p.I659F		Atlas-SNP	.											.	HIF1A	120	.	0			c.A1975T						.						108.0	100.0	103.0					14																	62207716		2203	4300	6503	SO:0001583	missense	3091	exon12			GAAGACATTAAAA	U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1903A>T	chr14.hg19:g.62207716A>T	ENSP00000338018:p.Ile635Phe	71.0	0.0		158.0	62.0	NM_001243084	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	ENST00000337138.4	hg19	CCDS9753.1	.	.	.	.	.	.	.	.	.	.	A	8.810	0.935036	0.18206	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.72	2.13	0.27403	.	3.176880	0.00628	N	0.000473	T	0.30916	0.0780	N	0.19112	0.55	0.30200	N	0.798702	B;B;B	0.26809	0.16;0.16;0.16	B;B;B	0.26693	0.072;0.072;0.072	T	0.21381	-1.0247	10	0.15952	T	0.53	.	2.0923	0.03660	0.4959:0.1201:0.2679:0.1161	.	636;635;635	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	F	386;576;635;636;635;576;659	ENSP00000338018:I635F;ENSP00000378446:I636F;ENSP00000323326:I635F;ENSP00000451696:I576F;ENSP00000437955:I659F	ENSP00000323326:I635F	I	+	1	0	HIF1A	61277469	0.902000	0.30710	0.996000	0.52242	0.898000	0.52572	0.814000	0.27239	0.187000	0.20147	-0.256000	0.11100	ATT	.	.		0.408	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276977.2	NM_001530	
SYNE2	23224	hgsc.bcm.edu	37	14	64518635	64518635	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:64518635G>T	ENST00000344113.4	+	48	8216	c.8004G>T	c.(8002-8004)ttG>ttT	p.L2668F	SYNE2_ENST00000554584.1_Missense_Mutation_p.L2701F|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000358025.3_Missense_Mutation_p.L2668F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2668					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATTGCCTTGACCACTGACC	0.453																																					p.L2668F		Atlas-SNP	.											.	SYNE2	577	.	0			c.G8004T						.						102.0	103.0	103.0					14																	64518635		1970	4153	6123	SO:0001583	missense	23224	exon48			TGCCTTGACCACT	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.8004G>T	chr14.hg19:g.64518635G>T	ENSP00000341781:p.Leu2668Phe	102.0	0.0		225.0	31.0	NM_182914	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	hg19	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	4.015	0.000139	0.07819	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.59224	0.65;0.66;0.28	5.68	2.39	0.29439	.	0.797647	0.10644	N	0.650623	T	0.51398	0.1672	L	0.27053	0.805	0.18873	N	0.999986	P;P	0.50272	0.933;0.919	P;P	0.48704	0.462;0.587	T	0.40776	-0.9545	10	0.62326	D	0.03	.	9.9368	0.41556	0.2556:0.0:0.7444:0.0	.	2668;2668	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	F	2668;2668;2701;2701	ENSP00000350719:L2668F;ENSP00000341781:L2668F;ENSP00000452570:L2701F	ENSP00000261678:L2701F	L	+	3	2	SYNE2	63588388	0.058000	0.20735	0.032000	0.17829	0.036000	0.12997	1.632000	0.37102	0.730000	0.32425	0.563000	0.77884	TTG	.	.		0.453	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
SLC10A1	6554	hgsc.bcm.edu	37	14	70252897	70252897	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:70252897A>G	ENST00000216540.4	-	2	617	c.484T>C	c.(484-486)Tca>Cca	p.S162P		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	162					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	AGGACCAGTGATATCACGATG	0.517																																					p.S162P		Atlas-SNP	.											.	SLC10A1	32	.	0			c.T484C						.						236.0	194.0	208.0					14																	70252897		2203	4300	6503	SO:0001583	missense	6554	exon2			CCAGTGATATCAC	L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.484T>C	chr14.hg19:g.70252897A>G	ENSP00000216540:p.Ser162Pro	101.0	0.0		225.0	17.0	NM_003049	B9EGB6|Q2TU29	Missense_Mutation	SNP	ENST00000216540.4	hg19	CCDS9797.1	.	.	.	.	.	.	.	.	.	.	A	11.60	1.687662	0.29962	.	.	ENSG00000100652	ENST00000216540	T	0.12147	2.71	5.01	5.01	0.66863	.	0.203863	0.42821	D	0.000647	T	0.40297	0.1111	M	0.89353	3.025	0.29023	N	0.88618	D	0.89917	1.0	D	0.76071	0.987	T	0.43909	-0.9362	10	0.48119	T	0.1	-11.5151	10.1438	0.42751	0.8509:0.0:0.0:0.1491	.	162	Q14973	NTCP_HUMAN	P	162	ENSP00000216540:S162P	ENSP00000216540:S162P	S	-	1	0	SLC10A1	69322650	0.465000	0.25815	0.222000	0.23844	0.004000	0.04260	1.097000	0.30988	2.227000	0.72691	0.459000	0.35465	TCA	.	.		0.517	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412464.1		
SIPA1L1	26037	hgsc.bcm.edu	37	14	72190408	72190408	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:72190408G>A	ENST00000555818.1	+	16	4664	c.4316G>A	c.(4315-4317)aGt>aAt	p.S1439N	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S1418N|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S893N|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S1418N	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1439	Ser-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTTCACCAGTGCCCGGAGT	0.537																																					p.S1439N		Atlas-SNP	.											.	SIPA1L1	219	.	0			c.G4316A						.						135.0	111.0	119.0					14																	72190408		2203	4300	6503	SO:0001583	missense	26037	exon16			TCACCAGTGCCCG	AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.4316G>A	chr14.hg19:g.72190408G>A	ENSP00000450832:p.Ser1439Asn	50.0	0.0		122.0	19.0	NM_015556	J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	ENST00000555818.1	hg19	CCDS9807.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.674277	0.88445	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	T;T;T;D	0.85484	-1.17;-1.2;-1.17;-1.99	5.54	5.54	0.83059	.	0.170379	0.64402	D	0.000004	D	0.86029	0.5835	N	0.19112	0.55	0.58432	D	0.999999	D;P;D;D;D	0.65815	0.995;0.895;0.989;0.974;0.988	P;B;P;P;P	0.61070	0.836;0.264;0.854;0.796;0.883	D	0.85171	0.0998	10	0.35671	T	0.21	-16.5037	19.8379	0.96666	0.0:0.0:1.0:0.0	.	893;1439;893;1418;1439	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	N	1418;1439;1418;893	ENSP00000370630:S1418N;ENSP00000450832:S1439N;ENSP00000351352:S1418N;ENSP00000440682:S893N	ENSP00000351352:S1439N	S	+	2	0	SIPA1L1	71260161	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.938000	0.70170	2.765000	0.95021	0.655000	0.94253	AGT	.	.		0.537	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412806.1	NM_015556	
DPF3	8110	hgsc.bcm.edu	37	14	73159816	73159816	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:73159816G>A	ENST00000556509.1	-	7	709	c.710C>T	c.(709-711)tCc>tTc	p.S237F	DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.S247F|DPF3_ENST00000541685.1_Missense_Mutation_p.S237F	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	237					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GTTGGGTGGGGACCGAGTCTC	0.582																																					p.S237F		Atlas-SNP	.											.	DPF3	117	.	0			c.C710T						.						203.0	204.0	204.0					14																	73159816		2067	4214	6281	SO:0001583	missense	8110	exon7			GGTGGGGACCGAG	U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.710C>T	chr14.hg19:g.73159816G>A	ENSP00000450518:p.Ser237Phe	143.0	0.0		300.0	31.0	NM_012074	A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	ENST00000556509.1	hg19		.	.	.	.	.	.	.	.	.	.	G	26.9	4.783260	0.90282	.	.	ENSG00000205683	ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.90900	-2.75;-0.25;-0.2	5.36	5.36	0.76844	.	.	.	.	.	D	0.92071	0.7487	L	0.47716	1.5	0.80722	D	1	P;D;D	0.61080	0.936;0.978;0.989	P;P;P	0.53912	0.729;0.729;0.737	D	0.92906	0.6343	9	0.87932	D	0	.	19.0841	0.93196	0.0:0.0:1.0:0.0	.	247;237;237	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	F	237;236;237;247	ENSP00000450518:S237F;ENSP00000441640:S237F;ENSP00000444662:S247F	ENSP00000381791:S292F	S	-	2	0	DPF3	72229569	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	9.335000	0.96500	2.504000	0.84457	0.462000	0.41574	TCC	.	.		0.582	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000413152.2		
GPATCH2L	55668	hgsc.bcm.edu	37	14	76668083	76668083	+	Silent	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:76668083A>G	ENST00000261530.7	+	10	1404	c.1338A>G	c.(1336-1338)aaA>aaG	p.K446K	GPATCH2L_ENST00000312858.5_Silent_p.K441K|GPATCH2L_ENST00000556675.1_Intron	NM_017926.2	NP_060396.2	Q9NWQ4	GPT2L_HUMAN	G patch domain containing 2-like	446																	AAGCCCCCAAATCACCCAGCT	0.478																																					p.K446K		Atlas-SNP	.											.	.	.	.	0			c.A1338G						.						85.0	80.0	82.0					14																	76668083		2203	4300	6503	SO:0001819	synonymous_variant	55668	exon10			CCCCAAATCACCC	AK000696	CCDS9848.1, CCDS9849.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000089916	ENSG00000089916			20210	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 118"""	C14orf118		10574461	Standard	NM_017926		Approved	FLJ20689, FLJ10033	uc001xsh.3	Q9NWQ4	OTTHUMG00000171490	ENST00000261530.7:c.1338A>G	chr14.hg19:g.76668083A>G		94.0	0.0		191.0	13.0	NM_017926	B3KN42|Q6PEJ7|Q9H3M3|Q9NWH0|Q9ULR8	Silent	SNP	ENST00000261530.7	hg19	CCDS9848.1	.	.	.	.	.	.	.	.	.	.	A	5.361	0.251864	0.10185	.	.	ENSG00000089916	ENST00000336993	.	.	.	5.63	-5.48	0.02592	.	.	.	.	.	T	0.49406	0.1555	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.57814	-0.7746	5	0.87932	D	0	-8.6954	13.884	0.63698	0.4345:0.0:0.5655:0.0	.	.	.	.	S	440	.	ENSP00000337200:N440S	N	+	2	0	C14orf118	75737836	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-0.921000	0.04008	-1.467000	0.01895	-0.264000	0.10439	AAT	.	.		0.478	GPATCH2L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000413698.2	NM_017926	
ZDHHC22	283576	hgsc.bcm.edu	37	14	77606003	77606003	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:77606003G>A	ENST00000319374.4	-	2	281	c.79C>T	c.(79-81)Ctc>Ttc	p.L27F	AC007375.1_ENST00000600936.1_5'Flank|RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	27					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		AAGAGGAAGAGCTGCAGCACG	0.667											OREG0022834	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.L27F		Atlas-SNP	.											.	ZDHHC22	30	.	0			c.C79T						.						10.0	13.0	12.0					14																	77606003		2096	4206	6302	SO:0001583	missense	283576	exon2			GGAAGAGCTGCAG	AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.79C>T	chr14.hg19:g.77606003G>A	ENSP00000318222:p.Leu27Phe	27.0	0.0	1177	54.0	10.0	NM_174976	A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	hg19	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765692	0.49574	.	.	ENSG00000177108	ENST00000319374;ENST00000555389;ENST00000555327	T	0.58652	0.32	5.67	5.67	0.87782	.	0.128302	0.53938	D	0.000046	T	0.36717	0.0977	N	0.08118	0	0.40340	D	0.979024	B	0.17038	0.02	B	0.10450	0.005	T	0.25082	-1.0142	10	0.21540	T	0.41	.	13.8634	0.63574	0.0:0.0:0.8382:0.1617	.	27	Q8N966	ZDH22_HUMAN	F	27	ENSP00000318222:L27F	ENSP00000318222:L27F	L	-	1	0	ZDHHC22	76675756	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.584000	0.53936	2.677000	0.91161	0.561000	0.74099	CTC	.	.		0.667	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1	NM_174976	
RPS6KA5	9252	hgsc.bcm.edu	37	14	91338575	91338575	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:91338575G>C	ENST00000261991.3	-	17	2425	c.2252C>G	c.(2251-2253)aCc>aGc	p.T751S	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.T672S	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	751					axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|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)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		CTCGGTACTGGTGCTAGTCTT	0.483																																					p.T751S		Atlas-SNP	.											.	RPS6KA5	135	.	0			c.C2252G						.						129.0	114.0	119.0					14																	91338575		2203	4300	6503	SO:0001583	missense	9252	exon17			GTACTGGTGCTAG	AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.2252C>G	chr14.hg19:g.91338575G>C	ENSP00000261991:p.Thr751Ser	113.0	0.0		335.0	37.0	NM_004755	O95316|Q96AF7	Missense_Mutation	SNP	ENST00000261991.3	hg19	CCDS9893.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.354677	0.24512	.	.	ENSG00000100784	ENST00000261991;ENST00000536315	T;T	0.66815	-0.23;-0.23	5.25	5.25	0.73442	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.70290	0.3207	L	0.33485	1.01	0.80722	D	1	P	0.52842	0.956	D	0.65010	0.931	T	0.61959	-0.6955	10	0.05959	T	0.93	.	19.2225	0.93803	0.0:0.0:1.0:0.0	.	751	O75582	KS6A5_HUMAN	S	751;672	ENSP00000261991:T751S;ENSP00000442803:T672S	ENSP00000261991:T751S	T	-	2	0	RPS6KA5	90408328	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.813000	0.99286	2.611000	0.88343	0.655000	0.94253	ACC	.	.		0.483	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411442.2	NM_004755	
RCOR1	23186	hgsc.bcm.edu	37	14	103174914	103174914	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:103174914A>G	ENST00000570597.1	+	6	764	c.764A>G	c.(763-765)gAg>gGg	p.E255G	RCOR1_ENST00000262241.6_Missense_Mutation_p.E258G			Q9UKL0	RCOR1_HUMAN	REST corepressor 1	255					blood coagulation (GO:0007596)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGGGAGCGGGAGGAGAGGTGA	0.483																																					p.E258G		Atlas-SNP	.											.	RCOR1	39	.	0			c.A773G						.						97.0	102.0	100.0					14																	103174914		2203	4300	6503	SO:0001583	missense	23186	exon6			AGCGGGAGGAGAG	AF155595	CCDS9974.1, CCDS9974.2	14q32.33	2004-04-16	2004-04-16	2004-04-16		ENSG00000089902			17441	protein-coding gene	gene with protein product		607675	"""REST corepressor"""	RCOR		10449787	Standard	NM_015156		Approved	COREST, KIAA0071	uc001ymb.4	Q9UKL0		ENST00000570597.1:c.764A>G	chr14.hg19:g.103174914A>G	ENSP00000459789:p.Glu255Gly	39.0	0.0		85.0	10.0	NM_015156	Q15044|Q6P2I9|Q86VG5	Missense_Mutation	SNP	ENST00000570597.1	hg19		.	.	.	.	.	.	.	.	.	.	A	16.91	3.253093	0.59212	.	.	ENSG00000089902	ENST00000262241	.	.	.	5.88	5.88	0.94601	.	0.105736	0.64402	D	0.000005	T	0.44850	0.1313	N	0.21142	0.635	0.58432	D	0.999997	B	0.15719	0.014	B	0.15484	0.013	T	0.31668	-0.9935	9	0.21014	T	0.42	-28.233	16.2879	0.82732	1.0:0.0:0.0:0.0	.	255	Q9UKL0	RCOR1_HUMAN	G	255	.	ENSP00000262241:E255G	E	+	2	0	RCOR1	102244667	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	5.846000	0.69444	2.242000	0.73789	0.533000	0.62120	GAG	.	.		0.483	RCOR1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015156	
AHNAK2	113146	hgsc.bcm.edu	37	14	105419292	105419292	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:105419292C>A	ENST00000333244.5	-	7	2615	c.2496G>T	c.(2494-2496)aaG>aaT	p.K832N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	832						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATTTTGAACTTGCTGTCTT	0.622																																					p.K832N		Atlas-SNP	.											.	AHNAK2	719	.	0			c.G2496T						.						236.0	259.0	252.0					14																	105419292		1956	4145	6101	SO:0001583	missense	113146	exon7			TTTGAACTTGCTG	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2496G>T	chr14.hg19:g.105419292C>A	ENSP00000353114:p.Lys832Asn	94.0	0.0		169.0	67.0	NM_138420	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	hg19	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	8.580	0.882016	0.17467	.	.	ENSG00000185567	ENST00000333244	T	0.01871	4.59	4.02	2.13	0.27403	.	.	.	.	.	T	0.11367	0.0277	M	0.87328	2.875	0.21184	N	0.999764	D	0.76494	0.999	D	0.81914	0.995	T	0.16512	-1.0400	9	0.20519	T	0.43	.	9.0866	0.36586	0.0:0.7193:0.0:0.2807	.	832	Q8IVF2	AHNK2_HUMAN	N	832	ENSP00000353114:K832N	ENSP00000353114:K832N	K	-	3	2	AHNAK2	104490337	0.000000	0.05858	0.558000	0.28319	0.017000	0.09413	-0.608000	0.05641	0.187000	0.20147	-1.579000	0.00862	AAG	.	.		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
HERC2	8924	hgsc.bcm.edu	37	15	28446674	28446674	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:28446674G>C	ENST00000261609.7	-	48	7752	c.7644C>G	c.(7642-7644)agC>agG	p.S2548R		NM_004667.5	NP_004658.3			HECT and RLD domain containing E3 ubiquitin protein ligase 2											NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TGTACGTCTGGCTCTCCGTCA	0.368																																					p.S2548R		Atlas-SNP	.											.	HERC2	501	.	0			c.C7644G						.						125.0	114.0	118.0					15																	28446674		2203	4300	6503	SO:0001583	missense	8924	exon48			CGTCTGGCTCTCC	AF071172	CCDS10021.1	15q13	2012-02-23	2012-02-23		ENSG00000128731	ENSG00000128731			4868	protein-coding gene	gene with protein product		605837	"""hect domain and RLD 2"""			9949213	Standard	NM_004667		Approved	jdf2, p528, D15F37S1	uc001zbj.4	O95714	OTTHUMG00000129251	ENST00000261609.7:c.7644C>G	chr15.hg19:g.28446674G>C	ENSP00000261609:p.Ser2548Arg	122.0	0.0		537.0	24.0	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263445	0.59431	.	.	ENSG00000128731	ENST00000261609	T	0.38887	1.11	5.18	3.3	0.37823	.	0.043831	0.85682	D	0.000000	T	0.55800	0.1943	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.995	D;D	0.75484	0.986;0.979	T	0.49532	-0.8930	10	0.25106	T	0.35	.	11.6869	0.51492	0.1348:0.0:0.8652:0.0	.	15;2548	A8KAQ8;O95714	.;HERC2_HUMAN	R	2548	ENSP00000261609:S2548R	ENSP00000261609:S2548R	S	-	3	2	HERC2	26120269	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.798000	0.38814	0.691000	0.31592	0.561000	0.74099	AGC	.	.		0.368	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
ARHGAP11A	9824	hgsc.bcm.edu	37	15	32928928	32928928	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:32928928G>A	ENST00000361627.3	+	12	2676	c.1954G>A	c.(1954-1956)Gta>Ata	p.V652I	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.V463I|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.V463I	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	652					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		TTTGACTATAGTAGAATCAAA	0.333																																					p.V652I	Colon(45;757 1134 30003 36652)	Atlas-SNP	.											.	ARHGAP11A	84	.	0			c.G1954A						.						27.0	28.0	28.0					15																	32928928		2186	4293	6479	SO:0001583	missense	9824	exon12			ACTATAGTAGAAT	D87717	CCDS10028.1, CCDS58349.1, CCDS66730.1	15q13.3	2006-09-19			ENSG00000198826	ENSG00000198826		"""Rho GTPase activating proteins"""	15783	protein-coding gene	gene with protein product	"""GAP (1-12)"""	610589				11829490	Standard	NM_199357		Approved	KIAA0013	uc001zgy.1	Q6P4F7	OTTHUMG00000129289	ENST00000361627.3:c.1954G>A	chr15.hg19:g.32928928G>A	ENSP00000355090:p.Val652Ile	78.0	0.0		204.0	92.0	NM_014783	B4DZN9|Q6PI96|Q9Y3S6	Missense_Mutation	SNP	ENST00000361627.3	hg19	CCDS10028.1	.	.	.	.	.	.	.	.	.	.	.	1.822	-0.471895	0.04445	.	.	ENSG00000198826	ENST00000361627;ENST00000543522	T	0.09630	2.96	5.05	1.17	0.20885	.	0.980375	0.08352	N	0.959089	T	0.03053	0.0090	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45789	-0.9237	10	0.17832	T	0.49	.	4.6642	0.12657	0.4877:0.3054:0.2069:0.0	.	652	Q6P4F7	RHGBA_HUMAN	I	652;463	ENSP00000355090:V652I	ENSP00000355090:V652I	V	+	1	0	ARHGAP11A	30716220	0.004000	0.15560	0.979000	0.43373	0.870000	0.49936	0.164000	0.16542	0.378000	0.24764	-0.484000	0.04775	GTA	.	.		0.333	ARHGAP11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251417.1	NM_014783	
AQR	9716	hgsc.bcm.edu	37	15	35198872	35198872	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:35198872G>T	ENST00000156471.5	-	18	1930	c.1705C>A	c.(1705-1707)Ccc>Acc	p.P569T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	569					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGTTTTGTGGGACGTACGGTA	0.388																																					p.P569T		Atlas-SNP	.											.	AQR	139	.	0			c.C1705A						.						126.0	113.0	117.0					15																	35198872		1901	4133	6034	SO:0001583	missense	9716	exon18			TTGTGGGACGTAC	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1705C>A	chr15.hg19:g.35198872G>T	ENSP00000156471:p.Pro569Thr	49.0	0.0		139.0	13.0	NM_014691	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	hg19	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962361	0.74016	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94232	-3.38	5.44	4.51	0.55191	.	0.047946	0.85682	N	0.000000	D	0.96917	0.8993	M	0.93763	3.455	0.48087	D	0.999589	D	0.69078	0.997	P	0.58210	0.835	D	0.97610	1.0129	10	0.72032	D	0.01	-11.5427	15.454	0.75299	0.0:0.0:0.8602:0.1398	.	569	O60306	AQR_HUMAN	T	569	ENSP00000156471:P569T	ENSP00000156471:P569T	P	-	1	0	AQR	32986164	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.416000	0.97383	1.252000	0.44001	0.591000	0.81541	CCC	.	.		0.388	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
BAHD1	22893	hgsc.bcm.edu	37	15	40757537	40757537	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:40757537T>A	ENST00000416165.1	+	6	2127	c.2056T>A	c.(2056-2058)Ttg>Atg	p.L686M	BAHD1_ENST00000560846.1_Intron|BAHD1_ENST00000561234.1_Missense_Mutation_p.L685M|RP11-64K12.8_ENST00000559730.1_RNA	NM_014952.3	NP_055767.3	Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	686	BAH. {ECO:0000255|PROSITE- ProRule:PRU00370}.				heterochromatin assembly (GO:0031507)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|chromosome (GO:0005694)	chromatin binding (GO:0003682)			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTTTGAGCCCTTGCAGAATGA	0.537																																					p.L686M		Atlas-SNP	.											.	BAHD1	68	.	0			c.T2056A						.						166.0	124.0	138.0					15																	40757537		2203	4300	6503	SO:0001583	missense	22893	exon6			GAGCCCTTGCAGA	AL833923	CCDS10058.1, CCDS73705.1	15q14	2005-11-10			ENSG00000140320	ENSG00000140320			29153	protein-coding gene	gene with protein product		613880				10231032	Standard	XM_005254229		Approved	KIAA0945	uc001zlu.2	Q8TBE0	OTTHUMG00000129982	ENST00000416165.1:c.2056T>A	chr15.hg19:g.40757537T>A	ENSP00000396976:p.Leu686Met	70.0	0.0		119.0	13.0	NM_014952	Q8NDF7|Q9Y2F4	Missense_Mutation	SNP	ENST00000416165.1	hg19	CCDS10058.1	.	.	.	.	.	.	.	.	.	.	T	17.97	3.518522	0.64634	.	.	ENSG00000140320	ENST00000416165	T	0.19669	2.13	5.75	5.75	0.90469	Bromo adjacent homology (BAH) domain (3);	0.177862	0.39407	N	0.001364	T	0.35068	0.0919	L	0.50333	1.59	0.80722	D	1	D;D	0.61697	0.99;0.987	P;P	0.62298	0.9;0.838	T	0.03493	-1.1031	10	0.36615	T	0.2	-6.7082	11.1463	0.48432	0.0:0.0:0.1535:0.8465	.	686;685	Q8TBE0;Q8TBE0-2	BAHD1_HUMAN;.	M	686	ENSP00000396976:L686M	ENSP00000396976:L686M	L	+	1	2	BAHD1	38544829	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.232000	0.43018	2.191000	0.70037	0.533000	0.62120	TTG	.	.		0.537	BAHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252248.1	NM_014952	
TGM7	116179	hgsc.bcm.edu	37	15	43571883	43571883	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:43571883C>T	ENST00000452443.2	-	10	1622	c.1618G>A	c.(1618-1620)Ggt>Agt	p.G540S		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	540					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TGGGTACCACCCCCATGCAGC	0.642																																					p.G540S		Atlas-SNP	.											.	TGM7	86	.	0			c.G1618A						.						93.0	94.0	94.0					15																	43571883		2202	4299	6501	SO:0001583	missense	116179	exon10			TACCACCCCCATG	AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1618G>A	chr15.hg19:g.43571883C>T	ENSP00000389466:p.Gly540Ser	32.0	0.0		101.0	14.0	NM_052955		Missense_Mutation	SNP	ENST00000452443.2	hg19	CCDS32213.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.607287	0.46527	.	.	ENSG00000159495	ENST00000452443	T	0.68331	-0.32	4.69	4.69	0.59074	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	0.121727	0.56097	D	0.000026	T	0.71702	0.3371	M	0.78801	2.425	0.19300	N	0.999973	D	0.59767	0.986	P	0.48304	0.573	T	0.69323	-0.5175	10	0.59425	D	0.04	-12.9329	13.0102	0.58727	0.0:1.0:0.0:0.0	.	540	Q96PF1	TGM7_HUMAN	S	540	ENSP00000389466:G540S	ENSP00000389466:G540S	G	-	1	0	TGM7	41359175	0.137000	0.22531	0.076000	0.20297	0.693000	0.40251	1.492000	0.35594	2.427000	0.82271	0.655000	0.94253	GGT	.	.		0.642	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432489.1	NM_052955	
TP53BP1	7158	hgsc.bcm.edu	37	15	43749109	43749109	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:43749109G>C	ENST00000263801.3	-	12	1934	c.1682C>G	c.(1681-1683)cCt>cGt	p.P561R	TP53BP1_ENST00000382039.3_Missense_Mutation_p.P566R|TP53BP1_ENST00000605155.1_5'Flank|TP53BP1_ENST00000450115.2_Missense_Mutation_p.P566R|TP53BP1_ENST00000382044.4_Missense_Mutation_p.P566R	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	561					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTTTCAGCAGGAACAAATTT	0.413								Other conserved DNA damage response genes																													p.P566R		Atlas-SNP	.											.	TP53BP1	157	.	0			c.C1697G						.						147.0	134.0	139.0					15																	43749109		2201	4298	6499	SO:0001583	missense	7158	exon12			TCAGCAGGAACAA	U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.1682C>G	chr15.hg19:g.43749109G>C	ENSP00000263801:p.Pro561Arg	88.0	0.0		156.0	7.0	NM_001141980	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	ENST00000263801.3	hg19	CCDS10096.1	.	.	.	.	.	.	.	.	.	.	G	8.830	0.939737	0.18281	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115;ENST00000413546	T;T;T;T;T	0.16597	2.33;2.33;2.33;2.33;2.33	5.04	3.13	0.36017	.	0.321644	0.29995	N	0.010668	T	0.13200	0.0320	L	0.38838	1.175	0.31601	N	0.652675	B;B;B;B	0.09022	0.002;0.001;0.001;0.001	B;B;B;B	0.09377	0.004;0.001;0.003;0.003	T	0.05971	-1.0853	10	0.51188	T	0.08	-1.3124	8.7541	0.34635	0.0775:0.2843:0.6381:0.0	.	566;561;566;566	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	R	561;566;566;566;566	ENSP00000263801:P561R;ENSP00000371475:P566R;ENSP00000371470:P566R;ENSP00000393497:P566R;ENSP00000388028:P566R	ENSP00000263801:P561R	P	-	2	0	TP53BP1	41536401	0.048000	0.20356	1.000000	0.80357	0.663000	0.39108	1.628000	0.37060	0.609000	0.30018	0.563000	0.77884	CCT	.	.		0.413	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3		
DUOXA2	405753	hgsc.bcm.edu	37	15	45408389	45408389	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:45408389C>A	ENST00000323030.5	+	3	558	c.273C>A	c.(271-273)agC>agA	p.S91R	DUOX2_ENST00000389039.6_5'Flank|DUOX2_ENST00000603300.1_5'Flank	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	91					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		AAGCCTTCAGCGCAGCGCGCG	0.572																																					p.S91R		Atlas-SNP	.											.	DUOXA2	38	.	0			c.C273A						.						139.0	132.0	134.0					15																	45408389		2002	4151	6153	SO:0001583	missense	405753	exon3			CTTCAGCGCAGCG	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.273C>A	chr15.hg19:g.45408389C>A	ENSP00000319705:p.Ser91Arg	36.0	0.0		112.0	13.0	NM_207581	B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	hg19	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	C	14.81	2.646005	0.47258	.	.	ENSG00000140274	ENST00000323030	T	0.67865	-0.29	5.41	-9.39	0.00619	.	0.117307	0.85682	D	0.000000	T	0.78742	0.4331	M	0.79123	2.44	0.31474	N	0.668055	D	0.76494	0.999	D	0.71870	0.975	T	0.82678	-0.0338	10	0.72032	D	0.01	-18.1639	23.4889	0.99983	0.0:0.8007:0.0:0.1993	.	91	Q1HG44	DOXA2_HUMAN	R	91	ENSP00000319705:S91R	ENSP00000319705:S91R	S	+	3	2	DUOXA2	43195681	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-0.207000	0.09384	-2.250000	0.00701	-1.267000	0.01435	AGC	.	.		0.572	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581	
BLOC1S6	26258	hgsc.bcm.edu	37	15	45884374	45884374	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:45884374T>A	ENST00000220531.3	+	2	445	c.124T>A	c.(124-126)Ttg>Atg	p.L42M	BLOC1S6_ENST00000562384.1_Intron|BLOC1S6_ENST00000565216.1_Intron|BLOC1S6_ENST00000565323.1_Missense_Mutation_p.L47M|RP11-96O20.4_ENST00000564080.1_Intron|BLOC1S6_ENST00000568816.1_5'UTR|Y_RNA_ENST00000363549.1_RNA|BLOC1S6_ENST00000566753.1_Missense_Mutation_p.L42M|BLOC1S6_ENST00000564765.1_5'UTR|BLOC1S6_ENST00000565409.1_5'UTR|BLOC1S6_ENST00000567740.1_Intron|BLOC1S6_ENST00000567461.1_Intron	NM_012388.2	NP_036520.1	Q9UL45	BL1S6_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 6, pallidin	42					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|blood coagulation (GO:0007596)|endosome to melanosome transport (GO:0035646)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|membrane fusion (GO:0061025)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of pigment cell differentiation (GO:0050942)|post-Golgi vesicle-mediated transport (GO:0006892)|secretion of lysosomal enzymes (GO:0033299)|synaptic vesicle docking involved in exocytosis (GO:0016081)	BLOC-1 complex (GO:0031083)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|transport vesicle (GO:0030133)	actin filament binding (GO:0051015)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|syntaxin binding (GO:0019905)										AATAGAGGACTTGACTATAGA	0.398																																					p.L42M		Atlas-SNP	.											.	.	.	.	0			c.T124A						.						94.0	93.0	93.0					15																	45884374		2198	4298	6496	SO:0001583	missense	26258	exon2			GAGGACTTGACTA	AF080470	CCDS10126.1	15q21.1	2013-09-27	2012-08-07	2012-08-01	ENSG00000104164	ENSG00000104164		"""Biogenesis of lysosomal organelles complex-1 subunits"""	8549	protein-coding gene	gene with protein product		604310	"""pallid (mouse) homolog, pallidin"", ""pallidin homolog (mouse)"""	PA, PLDN		10610180	Standard	NM_012388		Approved	HPS9	uc001zvq.3	Q9UL45	OTTHUMG00000131477	ENST00000220531.3:c.124T>A	chr15.hg19:g.45884374T>A	ENSP00000220531:p.Leu42Met	53.0	0.0		133.0	7.0	NM_012388		Missense_Mutation	SNP	ENST00000220531.3	hg19	CCDS10126.1	.	.	.	.	.	.	.	.	.	.	T	17.76	3.467683	0.63625	.	.	ENSG00000104164	ENST00000220531	.	.	.	5.74	0.369	0.16151	.	0.559941	0.20041	N	0.100502	T	0.47563	0.1452	L	0.47716	1.5	0.58432	D	0.999999	P	0.40875	0.731	P	0.47528	0.549	T	0.39781	-0.9597	9	0.59425	D	0.04	1.1294	4.9159	0.13846	0.0:0.1755:0.295:0.5295	.	42	Q9UL45	PLDN_HUMAN	M	42	.	ENSP00000220531:L42M	L	+	1	2	PLDN	43671666	0.159000	0.22864	0.409000	0.26459	0.884000	0.51177	-0.555000	0.05999	0.085000	0.17107	0.460000	0.39030	TTG	.	.		0.398	BLOC1S6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254320.2	NM_012388	
SEMA6D	80031	hgsc.bcm.edu	37	15	48063289	48063289	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:48063289C>A	ENST00000316364.5	+	19	2968	c.2529C>A	c.(2527-2529)aaC>aaA	p.N843K	SEMA6D_ENST00000536845.2_Missense_Mutation_p.N843K|SEMA6D_ENST00000389432.2_Missense_Mutation_p.N800K|SEMA6D_ENST00000537942.1_Missense_Mutation_p.N781K|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.N824K|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.N787K|SEMA6D_ENST00000389428.3_Missense_Mutation_p.N768K|SEMA6D_ENST00000358066.4_Missense_Mutation_p.N781K|SEMA6D_ENST00000558014.1_Missense_Mutation_p.N781K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	843					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CTTTCTCAAACTCCAATGCTC	0.458																																					p.N843K		Atlas-SNP	.											.	SEMA6D	322	.	0			c.C2529A						.						105.0	96.0	99.0					15																	48063289		2198	4297	6495	SO:0001583	missense	80031	exon19			CTCAAACTCCAAT	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2529C>A	chr15.hg19:g.48063289C>A	ENSP00000324857:p.Asn843Lys	69.0	0.0		210.0	10.0	NM_153618	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	hg19	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.543237	0.27563	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.16897	2.31;2.34;2.34;2.31;2.31;2.31;2.31;2.32	5.58	2.23	0.28157	.	0.601453	0.16987	N	0.191479	T	0.11281	0.0275	N	0.22421	0.69	0.80722	D	1	B;P;B;P	0.47762	0.43;0.9;0.227;0.622	B;B;B;B	0.42522	0.1;0.39;0.138;0.146	T	0.15723	-1.0427	10	0.29301	T	0.29	.	8.8988	0.35481	0.0:0.6408:0.0:0.3592	.	768;787;843;781	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	K	781;843;843;824;800;787;781;768	ENSP00000442040:N781K;ENSP00000446152:N843K;ENSP00000324857:N843K;ENSP00000374084:N824K;ENSP00000374083:N800K;ENSP00000346786:N787K;ENSP00000350770:N781K;ENSP00000374079:N768K	ENSP00000324857:N843K	N	+	3	2	SEMA6D	45850581	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	0.593000	0.23999	0.712000	0.32039	0.563000	0.77884	AAC	.	.		0.458	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966	
SHC4	399694	hgsc.bcm.edu	37	15	49148299	49148299	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:49148299G>A	ENST00000332408.4	-	8	1521	c.1093C>T	c.(1093-1095)Cat>Tat	p.H365Y	SHC4_ENST00000537958.1_Missense_Mutation_p.H79Y|SHC4_ENST00000396535.3_Missense_Mutation_p.H122Y	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	365	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TCCTCGGCATGGCTATCAATA	0.448																																					p.H365Y		Atlas-SNP	.											.	SHC4	70	.	0			c.C1093T						.						137.0	129.0	132.0					15																	49148299		2197	4294	6491	SO:0001583	missense	399694	exon8			CGGCATGGCTATC	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1093C>T	chr15.hg19:g.49148299G>A	ENSP00000329668:p.His365Tyr	79.0	0.0		159.0	10.0	NM_203349	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	hg19	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	4.357	0.065842	0.08388	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	T;T;T	0.30182	3.55;1.54;1.55	5.14	0.673	0.17941	.	1.508310	0.03699	N	0.248252	T	0.15089	0.0364	N	0.08118	0	0.09310	N	1	B;B	0.30709	0.291;0.035	B;B	0.25884	0.064;0.009	T	0.18366	-1.0339	10	0.62326	D	0.03	-6.9214	2.2079	0.03940	0.1485:0.1126:0.3831:0.3559	.	122;365	Q6S5L8-2;Q6S5L8	.;SHC4_HUMAN	Y	365;122;79	ENSP00000329668:H365Y;ENSP00000379786:H122Y;ENSP00000443300:H79Y	ENSP00000329668:H365Y	H	-	1	0	SHC4	46935591	0.003000	0.15002	0.002000	0.10522	0.041000	0.13682	0.523000	0.22925	0.010000	0.14839	0.655000	0.94253	CAT	.	.		0.448	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
DMXL2	23312	hgsc.bcm.edu	37	15	51791589	51791589	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:51791589C>G	ENST00000251076.5	-	18	4119	c.3832G>C	c.(3832-3834)Gtc>Ctc	p.V1278L	DMXL2_ENST00000543779.2_Missense_Mutation_p.V1278L|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1278						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CCAAATTTGACAGCATGCTTC	0.413																																					p.V1278L		Atlas-SNP	.											.	DMXL2	262	.	0			c.G3832C						.						183.0	178.0	180.0					15																	51791589		2195	4293	6488	SO:0001583	missense	23312	exon18			ATTTGACAGCATG	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3832G>C	chr15.hg19:g.51791589C>G	ENSP00000251076:p.Val1278Leu	75.0	0.0		171.0	17.0	NM_001174116	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	hg19	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	C	1.984	-0.433474	0.04669	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.20738	2.05;2.05	5.66	4.73	0.59995	.	0.164769	0.53938	D	0.000051	T	0.13970	0.0338	N	0.25647	0.755	0.80722	D	1	B;B	0.18741	0.03;0.017	B;B	0.17433	0.018;0.011	T	0.07404	-1.0774	10	0.27785	T	0.31	.	9.6847	0.40091	0.0:0.7935:0.0:0.2065	.	1278;1278	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	L	1278	ENSP00000251076:V1278L;ENSP00000441858:V1278L	ENSP00000251076:V1278L	V	-	1	0	DMXL2	49578881	0.999000	0.42202	1.000000	0.80357	0.901000	0.52897	1.791000	0.38744	2.669000	0.90835	0.591000	0.81541	GTC	.	.		0.413	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263	
LEO1	123169	hgsc.bcm.edu	37	15	52251010	52251010	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:52251010G>T	ENST00000299601.5	-	6	1234	c.1174C>A	c.(1174-1176)Cag>Aag	p.Q392K	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	392					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCATAATACTGAGGATCAAAA	0.269																																					p.Q392K	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	Atlas-SNP	.											.	LEO1	46	.	0			c.C1174A						.						77.0	76.0	76.0					15																	52251010		2194	4288	6482	SO:0001583	missense	123169	exon6			AATACTGAGGATC	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1174C>A	chr15.hg19:g.52251010G>T	ENSP00000299601:p.Gln392Lys	99.0	0.0		317.0	17.0	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	hg19	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	G	17.61	3.433155	0.62844	.	.	ENSG00000166477	ENST00000299601;ENST00000538386	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	N	0.13168	0.305	0.80722	D	1	B	0.27910	0.193	B	0.27715	0.082	T	0.28522	-1.0041	9	0.18710	T	0.47	.	19.1406	0.93445	0.0:0.0:1.0:0.0	.	392	Q8WVC0	LEO1_HUMAN	K	392;370	.	ENSP00000299601:Q392K	Q	-	1	0	LEO1	50038302	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.602000	0.98312	2.619000	0.88677	0.557000	0.71058	CAG	.	.		0.269	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	
LEO1	123169	hgsc.bcm.edu	37	15	52258056	52258056	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:52258056G>C	ENST00000299601.5	-	2	764	c.704C>G	c.(703-705)cCa>cGa	p.P235R	LEO1_ENST00000315141.5_Missense_Mutation_p.P235R	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	235	Asp-rich.				endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		AGACAGCTGTGGTTGTTCTTC	0.423																																					p.P235R	Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)	Atlas-SNP	.											.	LEO1	46	.	0			c.C704G						.						246.0	246.0	246.0					15																	52258056		2195	4293	6488	SO:0001583	missense	123169	exon2			AGCTGTGGTTGTT	AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.704C>G	chr15.hg19:g.52258056G>C	ENSP00000299601:p.Pro235Arg	148.0	0.0		477.0	35.0	NM_138792	Q96N99	Missense_Mutation	SNP	ENST00000299601.5	hg19	CCDS10146.1	.	.	.	.	.	.	.	.	.	.	G	12.66	2.003248	0.35320	.	.	ENSG00000166477	ENST00000299601;ENST00000315141	.	.	.	4.84	4.84	0.62591	.	0.261206	0.40818	N	0.001011	T	0.42517	0.1206	N	0.16478	0.41	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.09377	0.004;0.001	T	0.24835	-1.0149	9	0.18276	T	0.48	.	18.1449	0.89651	0.0:0.0:1.0:0.0	.	235;235	Q8WVC0-2;Q8WVC0	.;LEO1_HUMAN	R	235	.	ENSP00000299601:P235R	P	-	2	0	LEO1	50045348	0.997000	0.39634	0.555000	0.28281	0.965000	0.64279	3.722000	0.54948	2.509000	0.84616	0.655000	0.94253	CCA	.	.		0.423	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2	NM_138792	
GNB5	10681	hgsc.bcm.edu	37	15	52476791	52476791	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:52476791T>A	ENST00000261837.7	-	2	148	c.83A>T	c.(82-84)aAg>aTg	p.K28M	RP11-430B1.2_ENST00000560518.1_lincRNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	28					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		TTGAGACTTCTTGAAAACTGG	0.378																																					p.K28M		Atlas-SNP	.											.	GNB5	28	.	0			c.A83T						.						129.0	123.0	125.0					15																	52476791		2195	4293	6488	SO:0001583	missense	10681	exon2			GACTTCTTGAAAA	AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.83A>T	chr15.hg19:g.52476791T>A	ENSP00000261837:p.Lys28Met	60.0	0.0		112.0	10.0	NM_016194	B2RBR5|Q9HAU9|Q9UFT3	Missense_Mutation	SNP	ENST00000261837.7	hg19	CCDS10149.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.528624	0.44969	.	.	ENSG00000069966	ENST00000261837	T	0.61627	0.09	5.78	4.63	0.57726	.	0.222920	0.29480	N	0.012030	T	0.46308	0.1386	L	0.36672	1.1	0.80722	D	1	B	0.19445	0.036	B	0.17979	0.02	T	0.47235	-0.9133	10	0.59425	D	0.04	-28.8729	10.0548	0.42239	0.2612:0.0:0.0:0.7388	.	28	O14775	GBB5_HUMAN	M	28	ENSP00000261837:K28M	ENSP00000261837:K28M	K	-	2	0	GNB5	50264083	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.474000	0.60203	2.195000	0.70347	0.528000	0.53228	AAG	.	.		0.378	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254842.1		
UNC13C	440279	hgsc.bcm.edu	37	15	54592572	54592572	+	Splice_Site	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:54592572G>A	ENST00000260323.11	+	12	4268		c.e12+1		UNC13C_ENST00000545554.1_Splice_Site|UNC13C_ENST00000537900.1_Splice_Site	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)						exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		AAGCTATGACGTAAGTACTAC	0.328																																					.		Atlas-SNP	.											.	UNC13C	674	.	0			c.4268+1G>A						.						81.0	71.0	74.0					15																	54592572		1824	4108	5932	SO:0001630	splice_region_variant	440279	exon11			TATGACGTAAGTA	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4268+1G>A	chr15.hg19:g.54592572G>A		66.0	0.0		104.0	6.0	NM_001080534	Q0P613|Q8ND48|Q96NP3	Splice_Site	SNP	ENST00000260323.11	hg19	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.754855	0.89843	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6257	0.91336	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UNC13C	52379864	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.799000	0.99117	2.640000	0.89533	0.655000	0.94253	.	.	.		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	Intron
STOML1	9399	hgsc.bcm.edu	37	15	74277722	74277722	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:74277722C>A	ENST00000316900.5	-	5	851	c.727G>T	c.(727-729)Gcc>Tcc	p.A243S	STOML1_ENST00000359750.4_Missense_Mutation_p.A243S|STOML1_ENST00000541638.1_Missense_Mutation_p.A201S|STOML1_ENST00000561656.1_Missense_Mutation_p.A156S|STOML1_ENST00000316911.6_Missense_Mutation_p.A193S|STOML1_ENST00000564777.1_Missense_Mutation_p.A193S	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	243						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						AAGTGCAGGGCCAGCTGCTGG	0.692																																					p.A243S		Atlas-SNP	.											.	STOML1	22	.	0			c.G727T						.						21.0	19.0	20.0					15																	74277722		2198	4297	6495	SO:0001583	missense	9399	exon5			GCAGGGCCAGCTG	Y16522	CCDS10254.1, CCDS58381.1, CCDS58382.1, CCDS58383.1, CCDS58384.1, CCDS58385.1	15q24-q25	2008-07-18			ENSG00000067221	ENSG00000067221			14560	protein-coding gene	gene with protein product	"""stomatin-like 1"", ""stomatin (EBP72)-like 1"""	608326				9931417	Standard	NM_004809		Approved	hUNC-24, SLP-1, STORP, FLJ36370	uc002awe.4	Q9UBI4	OTTHUMG00000137608	ENST00000316900.5:c.727G>T	chr15.hg19:g.74277722C>A	ENSP00000319323:p.Ala243Ser	50.0	0.0		104.0	15.0	NM_001256672	B3KQN0|B4DUU5|B4DXM9|E7ESC0|H3BRP3|O95675|Q4PNR4|Q6FGL8|Q8WYI7|Q9UMB9|Q9UMC0|Q9Y6H9	Missense_Mutation	SNP	ENST00000316900.5	hg19	CCDS10254.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.455809	0.63401	.	.	ENSG00000067221	ENST00000316900;ENST00000316911;ENST00000541638;ENST00000359750	D;D;D;D	0.98221	-3.13;-2.71;-3.1;-4.8	5.22	4.31	0.51392	.	0.107947	0.64402	D	0.000006	D	0.96433	0.8836	L	0.29908	0.895	0.51482	D	0.999928	P;P;P;P;P;P	0.45827	0.791;0.666;0.867;0.666;0.578;0.791	P;B;P;B;B;B	0.50314	0.535;0.194;0.637;0.194;0.272;0.389	D	0.94849	0.8012	10	0.34782	T	0.22	-14.6048	10.6367	0.45569	0.0:0.9109:0.0:0.0891	.	201;243;193;243;243;243	B4DUU5;E7ESC0;Q9UBI4-2;Q4PNR4;Q53HB6;Q9UBI4	.;.;.;.;.;STML1_HUMAN	S	243;193;201;243	ENSP00000319323:A243S;ENSP00000319384:A193S;ENSP00000442478:A201S;ENSP00000352788:A243S	ENSP00000319323:A243S	A	-	1	0	STOML1	72064775	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.057000	0.49931	1.201000	0.43203	0.655000	0.94253	GCC	.	.		0.692	STOML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269022.1	NM_004809	
RCN2	5955	hgsc.bcm.edu	37	15	77227917	77227917	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:77227917G>A	ENST00000394885.3	+	3	524	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	RCN2_ENST00000320963.5_Missense_Mutation_p.E101K|RCN2_ENST00000394883.3_Intron	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	101	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						TGCTATGCAAGAAGCAAAACA	0.348																																					p.E101K		Atlas-SNP	.											.	RCN2	16	.	0			c.G301A						.						165.0	146.0	153.0					15																	77227917		2196	4294	6490	SO:0001583	missense	5955	exon3			ATGCAAGAAGCAA	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.301G>A	chr15.hg19:g.77227917G>A	ENSP00000378349:p.Glu101Lys	49.0	0.0		176.0	15.0	NM_002902	A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	hg19	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408127	0.96051	.	.	ENSG00000117906	ENST00000394885;ENST00000320963	T;T	0.74315	-0.83;-0.83	5.47	5.47	0.80525	EF-hand-like domain (1);	0.048133	0.85682	D	0.000000	T	0.81475	0.4830	M	0.80183	2.485	0.80722	D	1	D;P	0.53462	0.96;0.92	P;P	0.47603	0.497;0.551	D	0.84779	0.0772	10	0.72032	D	0.01	-22.0183	19.328	0.94270	0.0:0.0:1.0:0.0	.	101;101	F8WCY5;Q14257	.;RCN2_HUMAN	K	101	ENSP00000378349:E101K;ENSP00000319739:E101K	ENSP00000319739:E101K	E	+	1	0	RCN2	75014972	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	8.789000	0.91839	2.559000	0.86315	0.591000	0.81541	GAA	.	.		0.348	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902	
RCN2	5955	hgsc.bcm.edu	37	15	77241537	77241537	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:77241537G>T	ENST00000394885.3	+	7	1151	c.928G>T	c.(928-930)Gac>Tac	p.D310Y	RCN2_ENST00000320963.5_Missense_Mutation_p.D328Y|RCN2_ENST00000394883.3_Missense_Mutation_p.D209Y	NM_002902.2	NP_002893.1	Q14257	RCN2_HUMAN	reticulocalbin 2, EF-hand calcium binding domain	310						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)			endometrium(2)|kidney(2)|large_intestine(2)|lung(1)	7						GCTCCATGATGACTATTTCTA	0.388																																					p.D328Y		Atlas-SNP	.											.	RCN2	16	.	0			c.G982T						.						101.0	102.0	102.0					15																	77241537		2196	4294	6490	SO:0001583	missense	5955	exon8			CATGATGACTATT	X78669	CCDS10291.1, CCDS61719.1	15q22.33-q24.1	2013-01-10			ENSG00000117906	ENSG00000117906		"""EF-hand domain containing"""	9935	protein-coding gene	gene with protein product	"""Reticulocalbin 2, EF-hand calcium binding domain (endoplasmic reticulum calcium-binding protein, 55kD)"""	602584				9533013, 7624774	Standard	NM_002902		Approved	ERC-55, E6BP, ERC55, TCBP49	uc002bcd.3	Q14257	OTTHUMG00000143730	ENST00000394885.3:c.928G>T	chr15.hg19:g.77241537G>T	ENSP00000378349:p.Asp310Tyr	41.0	0.0		77.0	4.0	NM_001271837	A8MTG6|F8WCY5|Q53XN8	Missense_Mutation	SNP	ENST00000394885.3	hg19	CCDS10291.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673307	0.47781	.	.	ENSG00000117906	ENST00000394885;ENST00000320963;ENST00000394883	T;T;T	0.76316	-1.01;-0.05;0.73	5.91	4.02	0.46733	.	0.316616	0.39834	N	0.001243	T	0.62696	0.2449	N	0.12182	0.205	0.38267	D	0.942036	P;P;P	0.52842	0.956;0.904;0.828	P;P;B	0.44811	0.459;0.461;0.34	T	0.70417	-0.4877	10	0.87932	D	0	-16.8327	10.2245	0.43216	0.1882:0.0:0.8118:0.0	.	209;328;310	A8MXP8;F8WCY5;Q14257	.;.;RCN2_HUMAN	Y	310;328;209	ENSP00000378349:D310Y;ENSP00000319739:D328Y;ENSP00000378347:D209Y	ENSP00000319739:D328Y	D	+	1	0	RCN2	75028592	0.997000	0.39634	0.999000	0.59377	0.998000	0.95712	2.133000	0.42093	2.809000	0.96659	0.555000	0.69702	GAC	.	.		0.388	RCN2-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289795.1	NM_002902	
PEAK1	79834	hgsc.bcm.edu	37	15	77425574	77425574	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:77425574C>A	ENST00000560626.2	-	6	4325	c.3850G>T	c.(3850-3852)Gag>Tag	p.E1284*	PEAK1_ENST00000312493.4_Nonsense_Mutation_p.E1284*			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	1284					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										ACTACTTCCTCCCGATTCTCA	0.532																																					p.E1284X		Atlas-SNP	.											.	.	.	.	0			c.G3850T						.						147.0	143.0	144.0					15																	77425574		1877	4106	5983	SO:0001587	stop_gained	0	exon7			CTTCCTCCCGATT		CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.3850G>T	chr15.hg19:g.77425574C>A	ENSP00000452796:p.Glu1284*	100.0	0.0		321.0	33.0	NM_024776	Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	Nonsense_Mutation	SNP	ENST00000560626.2	hg19	CCDS42062.1	.	.	.	.	.	.	.	.	.	.	C	46	12.343992	0.99659	.	.	ENSG00000173517	ENST00000312493	.	.	.	5.61	5.61	0.85477	.	0.107611	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-9.2526	12.908	0.58164	0.0:0.9258:0.0:0.0742	.	.	.	.	X	1284	.	ENSP00000309230:E1284X	E	-	1	0	AC087465.1	75212629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.091000	0.71406	2.642000	0.89623	0.655000	0.94253	GAG	.	.		0.532	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419483.3		
LINGO1	84894	hgsc.bcm.edu	37	15	77906599	77906599	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:77906599G>T	ENST00000355300.6	-	2	1824	c.1650C>A	c.(1648-1650)ttC>ttA	p.F550L	LINGO1_ENST00000561030.1_Missense_Mutation_p.F544L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	550					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						TGTCGAAGGGGAAAGGCACAG	0.612																																					p.F550L		Atlas-SNP	.											.	LINGO1	76	.	0			c.C1650A						.						127.0	133.0	131.0					15																	77906599		2166	4258	6424	SO:0001583	missense	84894	exon2			GAAGGGGAAAGGC	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.1650C>A	chr15.hg19:g.77906599G>T	ENSP00000347451:p.Phe550Leu	59.0	0.0		77.0	30.0	NM_032808	D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	hg19	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617318	0.28801	.	.	ENSG00000169783	ENST00000355300	T	0.50548	0.74	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	L	0.60845	1.875	0.80722	D	1	B	0.14805	0.011	B	0.15484	0.013	T	0.32375	-0.9909	10	0.33940	T	0.23	.	14.3775	0.66889	0.0732:0.0:0.9268:0.0	.	550	Q96FE5	LIGO1_HUMAN	L	550	ENSP00000347451:F550L	ENSP00000347451:F550L	F	-	3	2	LINGO1	75693654	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.794000	0.62482	2.509000	0.84616	0.561000	0.74099	TTC	.	.		0.612	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808	
ARNT2	9915	hgsc.bcm.edu	37	15	80767490	80767490	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:80767490T>G	ENST00000303329.4	+	5	713	c.548T>G	c.(547-549)cTg>cGg	p.L183R	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Missense_Mutation_p.L172R|ARNT2_ENST00000533983.1_Missense_Mutation_p.L172R	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	183	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGGAGCACACTGTATGAACAG	0.527																																					p.L183R		Atlas-SNP	.											.	ARNT2	88	.	0			c.T548G						.						120.0	115.0	117.0					15																	80767490		2203	4300	6503	SO:0001583	missense	9915	exon5			GCACACTGTATGA	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.548T>G	chr15.hg19:g.80767490T>G	ENSP00000307479:p.Leu183Arg	69.0	0.0		162.0	31.0	NM_014862	B4DIS7|O15024|Q8IYC2	Missense_Mutation	SNP	ENST00000303329.4	hg19	CCDS32307.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.202645	0.79127	.	.	ENSG00000172379	ENST00000360062;ENST00000303329;ENST00000540859	T	0.19394	2.15	4.5	4.5	0.54988	PAS (2);PAS fold (1);	0.067492	0.56097	D	0.000022	T	0.57257	0.2041	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;0.979	D;D	0.91635	0.999;0.971	T	0.71041	-0.4707	10	0.87932	D	0	.	13.9888	0.64353	0.0:0.0:0.0:1.0	.	183;183	Q9HBZ2;Q86TN1	ARNT2_HUMAN;.	R	172;183;183	ENSP00000307479:L183R	ENSP00000307479:L183R	L	+	2	0	ARNT2	78554545	1.000000	0.71417	0.815000	0.32552	0.884000	0.51177	7.149000	0.77396	1.883000	0.54544	0.448000	0.29417	CTG	.	.		0.527	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2		
IL16	3603	hgsc.bcm.edu	37	15	81589305	81589305	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:81589305G>A	ENST00000302987.4	+	12	1939	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	IL16_ENST00000394652.2_5'UTR|IL16_ENST00000394660.2_Missense_Mutation_p.E647K			Q14005	IL16_HUMAN	interleukin 16	647					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCTACCACAGGAAGACACAGC	0.602																																					p.E647K		Atlas-SNP	.											.	IL16	254	.	0			c.G1939A						.						35.0	39.0	38.0					15																	81589305		1963	4158	6121	SO:0001583	missense	3603	exon13			CCACAGGAAGACA	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1939G>A	chr15.hg19:g.81589305G>A	ENSP00000302935:p.Glu647Lys	41.0	0.0		195.0	33.0	NM_001172128	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	ENST00000302987.4	hg19	CCDS42069.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460644	0.43736	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842;ENST00000394653	T;T	0.11063	2.81;2.81	4.7	4.7	0.59300	.	0.582759	0.14620	N	0.308470	T	0.15912	0.0383	M	0.65975	2.015	0.80722	D	1	B;B;B;B;B	0.26635	0.089;0.155;0.155;0.016;0.027	B;B;B;B;B	0.32864	0.034;0.043;0.154;0.021;0.047	T	0.07083	-1.0791	10	0.10636	T	0.68	.	15.7839	0.78286	0.0:0.0:1.0:0.0	.	141;184;37;647;647	Q6ZTT5;B7Z8M3;B3KY62;Q14005;Q14005-2	.;.;.;IL16_HUMAN;.	K	647;479;647;184;37	ENSP00000378155:E647K;ENSP00000302935:E647K	ENSP00000302935:E647K	E	+	1	0	IL16	79376360	1.000000	0.71417	0.985000	0.45067	0.317000	0.28152	2.648000	0.46647	2.305000	0.77605	0.655000	0.94253	GAA	.	.		0.602	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217	
STARD5	80765	hgsc.bcm.edu	37	15	81615246	81615246	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:81615246C>A	ENST00000302824.6	-	2	168	c.143G>T	c.(142-144)gGg>gTg	p.G48V	RP11-761I4.3_ENST00000559781.1_RNA|STARD5_ENST00000559913.1_5'UTR|RP11-761I4.3_ENST00000560973.1_RNA	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	48	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				C21-steroid hormone biosynthetic process (GO:0006700)|lipid transport (GO:0006869)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)	lipid binding (GO:0008289)			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						TTACAGGTTCCCTGGAAACTC	0.483																																					p.G48V		Atlas-SNP	.											.	STARD5	20	.	0			c.G143T						.						76.0	76.0	76.0					15																	81615246		2203	4300	6503	SO:0001583	missense	80765	exon2			AGGTTCCCTGGAA	AF480304	CCDS10318.1	15q26	2011-09-12	2007-08-16		ENSG00000172345	ENSG00000172345		"""StAR-related lipid transfer (START) domain containing"""	18065	protein-coding gene	gene with protein product		607050	"""START domain containing 5"""			12011452	Standard	NM_181900		Approved	MGC10327	uc002bgm.3	Q9NSY2	OTTHUMG00000147342	ENST00000302824.6:c.143G>T	chr15.hg19:g.81615246C>A	ENSP00000304032:p.Gly48Val	68.0	0.0		154.0	14.0	NM_181900	P59094	Missense_Mutation	SNP	ENST00000302824.6	hg19	CCDS10318.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.868363	0.91587	.	.	ENSG00000172345	ENST00000302824	T	0.79247	-1.25	5.4	5.4	0.78164	Lipid-binding START (3);START-like domain (1);	0.000000	0.85682	D	0.000000	D	0.88987	0.6587	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86928	0.2071	10	0.25106	T	0.35	-11.9245	18.7698	0.91887	0.0:1.0:0.0:0.0	.	48	Q9NSY2	STAR5_HUMAN	V	48	ENSP00000304032:G48V	ENSP00000304032:G48V	G	-	2	0	STARD5	79402301	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.520000	0.73773	2.542000	0.85734	0.655000	0.94253	GGG	.	.		0.483	STARD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000303950.2		
RHCG	51458	hgsc.bcm.edu	37	15	90023512	90023512	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:90023512G>T	ENST00000268122.4	-	4	718	c.650C>A	c.(649-651)tCg>tAg	p.S217*	RHCG_ENST00000544600.1_Nonsense_Mutation_p.S217*	NM_016321.1	NP_057405.1	Q9UBD6	RHCG_HUMAN	Rh family, C glycoprotein	217					amine transport (GO:0015837)|ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|cellular ion homeostasis (GO:0006873)|epithelial cell differentiation (GO:0030855)|homeostatic process (GO:0042592)|regulation of pH (GO:0006885)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(78;0.0237)|all_lung(78;0.0478)					AAAGAGGTCCGACTGGTACAC	0.547																																					p.S217X		Atlas-SNP	.											.	RHCG	49	.	0			c.C650A						.						205.0	179.0	188.0					15																	90023512		2200	4299	6499	SO:0001587	stop_gained	51458	exon4			AGGTCCGACTGGT	AF081497	CCDS10351.1	15q25	2013-05-22	2006-02-23		ENSG00000140519	ENSG00000140519		"""Solute carriers"""	18140	protein-coding gene	gene with protein product		605381	"""chromosome 15 open reading frame 6"", ""Rhesus blood group, C glycoprotein"""	C15orf6		10852913	Standard	NM_016321		Approved	RHGK, PDRC2, SLC42A3	uc002bnz.2	Q9UBD6	OTTHUMG00000149647	ENST00000268122.4:c.650C>A	chr15.hg19:g.90023512G>T	ENSP00000268122:p.Ser217*	68.0	0.0		88.0	7.0	NM_016321	A8K4D4|Q6X3Y4	Nonsense_Mutation	SNP	ENST00000268122.4	hg19	CCDS10351.1	.	.	.	.	.	.	.	.	.	.	G	38	6.998013	0.97990	.	.	ENSG00000140519	ENST00000544600;ENST00000268122;ENST00000536247	.	.	.	5.59	5.59	0.84812	.	0.107977	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-3.7037	19.6374	0.95740	0.0:0.0:1.0:0.0	.	.	.	.	X	217;217;208	.	.	S	-	2	0	RHCG	87824516	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.830000	0.99415	2.647000	0.89833	0.558000	0.71614	TCG	.	.		0.547	RHCG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000312855.2	NM_016321	
MCTP2	55784	hgsc.bcm.edu	37	15	94901714	94901714	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:94901714C>T	ENST00000357742.4	+	9	1174	c.1174C>T	c.(1174-1176)Ctg>Ttg	p.L392L	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000557742.1_Intron|MCTP2_ENST00000543482.1_Intron|MCTP2_ENST00000451018.3_Silent_p.L392L	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	392	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTCTAGACACTGTGTAAGAG	0.378																																					p.L392L		Atlas-SNP	.											MCTP2,NS,carcinoma,0,1	MCTP2	122	.	0			c.C1174T						.						94.0	90.0	91.0					15																	94901714		2197	4298	6495	SO:0001819	synonymous_variant	55784	exon9			TAGACACTGTGTA	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1174C>T	chr15.hg19:g.94901714C>T		36.0	0.0		104.0	0.0	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Silent	SNP	ENST00000357742.4	hg19	CCDS32338.1																																																																																			.	.		0.378	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
MCTP2	55784	hgsc.bcm.edu	37	15	94901825	94901825	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:94901825G>C	ENST00000357742.4	+	9	1285	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	MCTP2_ENST00000331706.4_Missense_Mutation_p.E17Q|MCTP2_ENST00000557742.1_Missense_Mutation_p.E17Q|MCTP2_ENST00000543482.1_3'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.E429Q	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	429	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAAAAAGCATGAGGAACGTCT	0.507																																					p.E429Q		Atlas-SNP	.											.	MCTP2	122	.	0			c.G1285C						.						114.0	99.0	104.0					15																	94901825		2197	4298	6495	SO:0001583	missense	55784	exon9			AAGCATGAGGAAC	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1285G>C	chr15.hg19:g.94901825G>C	ENSP00000350377:p.Glu429Gln	49.0	0.0		140.0	20.0	NM_001159643	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	hg19	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593492	0.66219	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	T;T;T	0.71579	2.97;-0.58;2.97	5.87	4.95	0.65309	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093845	0.64402	N	0.000001	T	0.69691	0.3139	L	0.48362	1.52	0.58432	D	0.999997	B;B;B	0.32188	0.023;0.332;0.359	B;B;B	0.39503	0.073;0.135;0.301	T	0.67565	-0.5638	10	0.36615	T	0.2	.	16.6123	0.84886	0.0:0.1405:0.8595:0.0	.	429;17;429	Q6DN12-2;Q6DN12-4;Q6DN12	.;.;MCTP2_HUMAN	Q	429;17;429	ENSP00000395109:E429Q;ENSP00000329646:E17Q;ENSP00000350377:E429Q	ENSP00000329646:E17Q	E	+	1	0	MCTP2	92702829	1.000000	0.71417	0.990000	0.47175	0.914000	0.54420	6.074000	0.71253	1.454000	0.47793	0.650000	0.86243	GAG	.	.		0.507	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
FAM169B	283777	hgsc.bcm.edu	37	15	99023985	99023985	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:99023985C>G	ENST00000558256.1	-	4	277	c.28G>C	c.(28-30)Gtt>Ctt	p.V10L	FAM169B_ENST00000332908.4_Missense_Mutation_p.V10L	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	10										large_intestine(3)|lung(3)|urinary_tract(1)	7						AAAAGCACAACCCTTTCCCCA	0.373																																					p.V10L		Atlas-SNP	.											.	FAM169B	23	.	0			c.G28C						.						72.0	69.0	70.0					15																	99023985		1864	4095	5959	SO:0001583	missense	283777	exon4			GCACAACCCTTTC		CCDS45360.1	15q26.3	2008-08-08			ENSG00000185087	ENSG00000185087			26835	protein-coding gene	gene with protein product							Standard	NM_182562		Approved	FLJ39743, KIAA0888L	uc002buk.1	Q8N8A8		ENST00000558256.1:c.28G>C	chr15.hg19:g.99023985C>G	ENSP00000453554:p.Val10Leu	59.0	0.0		116.0	8.0	NM_182562	B5MDL8	Missense_Mutation	SNP	ENST00000558256.1	hg19	CCDS45360.1	.	.	.	.	.	.	.	.	.	.	C	11.33	1.608089	0.28623	.	.	ENSG00000185087	ENST00000332908	T	0.72282	-0.64	5.27	2.89	0.33648	.	0.290655	0.33110	N	0.005280	T	0.50411	0.1614	N	0.17082	0.46	0.26442	N	0.975758	B	0.02656	0.0	B	0.01281	0.0	T	0.39231	-0.9624	10	0.44086	T	0.13	-9.8168	7.3417	0.26640	0.0:0.0771:0.1438:0.7791	.	10	Q8N8A8	F169B_HUMAN	L	10	ENSP00000332615:V10L	ENSP00000332615:V10L	V	-	1	0	FAM169B	96841508	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	1.945000	0.40273	0.283000	0.22279	-0.294000	0.09567	GTT	.	.		0.373	FAM169B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415488.1	NM_182562	
LRRK1	79705	hgsc.bcm.edu	37	15	101550657	101550657	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:101550657T>C	ENST00000388948.3	+	8	1351	c.992T>C	c.(991-993)cTa>cCa	p.L331P	LRRK1_ENST00000284395.5_Missense_Mutation_p.L328P	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATCGCAGGCTACTTGAAATT	0.373																																					p.L331P		Atlas-SNP	.											.	LRRK1	310	.	0			c.T992C						.						80.0	77.0	78.0					15																	101550657		1856	4083	5939	SO:0001583	missense	79705	exon8			GCAGGCTACTTGA	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.992T>C	chr15.hg19:g.101550657T>C	ENSP00000373600:p.Leu331Pro	104.0	0.0		198.0	71.0	NM_024652		Missense_Mutation	SNP	ENST00000388948.3	hg19	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.352489	0.61293	.	.	ENSG00000154237	ENST00000388948;ENST00000284395	T;T	0.70631	-0.5;-0.5	5.67	4.53	0.55603	.	0.324362	0.25280	N	0.031802	D	0.88640	0.6491	H	0.97077	3.935	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.90994	0.4837	10	0.87932	D	0	.	12.4414	0.55627	0.0:0.0:0.1403:0.8597	.	331	Q38SD2	LRRK1_HUMAN	P	331;328	ENSP00000373600:L331P;ENSP00000284395:L328P	ENSP00000284395:L328P	L	+	2	0	LRRK1	99368180	1.000000	0.71417	0.759000	0.31340	0.702000	0.40608	6.014000	0.70784	1.055000	0.40461	0.533000	0.62120	CTA	.	.		0.373	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652	
MAPK8IP3	23162	hgsc.bcm.edu	37	16	1816311	1816311	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:1816311C>G	ENST00000250894.4	+	22	2874	c.2717C>G	c.(2716-2718)cCc>cGc	p.P906R	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.P900R	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	906					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						GACCCTGGGCCCAGCGAGCCA	0.687																																					p.P906R		Atlas-SNP	.											.	MAPK8IP3	164	.	0			c.C2717G						.						26.0	38.0	34.0					16																	1816311		2100	4233	6333	SO:0001583	missense	23162	exon22			CTGGGCCCAGCGA	AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.2717C>G	chr16.hg19:g.1816311C>G	ENSP00000250894:p.Pro906Arg	41.0	0.0		88.0	18.0	NM_015133	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	ENST00000250894.4	hg19	CCDS10442.2	.	.	.	.	.	.	.	.	.	.	C	11.03	1.520322	0.27211	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	T;T	0.29142	1.58;1.58	5.09	5.09	0.68999	.	0.184910	0.47852	D	0.000212	T	0.32133	0.0819	L	0.54323	1.7	0.47547	D	0.999455	B;B;B	0.17667	0.012;0.023;0.023	B;B;B	0.25291	0.049;0.036;0.059	T	0.13629	-1.0502	10	0.66056	D	0.02	-23.231	12.5717	0.56341	0.0:0.9182:0.0:0.0818	.	907;900;906	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	R	906;900	ENSP00000250894:P906R;ENSP00000348290:P900R	ENSP00000250894:P906R	P	+	2	0	MAPK8IP3	1756312	1.000000	0.71417	0.900000	0.35374	0.221000	0.24807	4.671000	0.61590	2.387000	0.81309	0.561000	0.74099	CCC	.	.		0.687	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250508.2	NM_001040439	
TSC2	7249	hgsc.bcm.edu	37	16	2098719	2098719	+	Nonsense_Mutation	SNP	C	C	T	rs137854105		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:2098719C>T	ENST00000219476.3	+	2	733	c.103C>T	c.(103-105)Cag>Tag	p.Q35*	TSC2_ENST00000439673.2_Nonsense_Mutation_p.Q35*|TSC2_ENST00000568454.1_Nonsense_Mutation_p.Q46*|TSC2_ENST00000382538.6_Intron|TSC2_ENST00000350773.4_Nonsense_Mutation_p.Q35*|TSC2_ENST00000401874.2_Nonsense_Mutation_p.Q35*|NTHL1_ENST00000219066.1_5'Flank|TSC2_ENST00000353929.4_Nonsense_Mutation_p.Q35*	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	35	Required for interaction with TSC1.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGAGGGTAAACAGACGGAGTT	0.493			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																												p.Q35X		Atlas-SNP	.	yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	.	TSC2	364	.	0			c.C103T						.						172.0	145.0	154.0					16																	2098719		2198	4299	6497	SO:0001587	stop_gained	7249	exon2	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	GGTAAACAGACGG	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.103C>T	chr16.hg19:g.2098719C>T	ENSP00000219476:p.Gln35*	78.0	0.0		184.0	10.0	NM_001114382	A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Nonsense_Mutation	SNP	ENST00000219476.3	hg19	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768370	0.90020	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000350773;ENST00000445113	.	.	.	5.16	5.16	0.70880	.	0.211530	0.41294	D	0.000910	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-20.3627	18.6588	0.91465	0.0:1.0:0.0:0.0	.	.	.	.	X	35;35;35;35;35;46	.	ENSP00000219476:Q35X	Q	+	1	0	TSC2	2038720	1.000000	0.71417	0.921000	0.36526	0.909000	0.53808	5.108000	0.64609	2.403000	0.81681	0.563000	0.77884	CAG	.	.		0.493	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548	
RSL1D1	26156	hgsc.bcm.edu	37	16	11944139	11944139	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:11944139C>A	ENST00000571133.1	-	2	314	c.242G>T	c.(241-243)aGa>aTa	p.R81I	RP11-166B2.8_ENST00000574364.1_RNA|RSL1D1_ENST00000542106.1_Intron	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	81					osteoblast differentiation (GO:0001649)|regulation of apoptotic process (GO:0042981)|regulation of cellular senescence (GO:2000772)|regulation of protein localization (GO:0032880)	membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						AACTTACAATCTGACCCTCAG	0.318																																					p.R81I		Atlas-SNP	.											.	RSL1D1	40	.	0			c.G242T						.						86.0	81.0	83.0					16																	11944139		2197	4299	6496	SO:0001583	missense	26156	exon2			TACAATCTGACCC	AY154473	CCDS10551.1	16p13.13	2011-08-12			ENSG00000171490	ENSG00000171490			24534	protein-coding gene	gene with protein product		615874				15334068, 9859858	Standard	NM_015659		Approved	PBK1, L12, DKFZP564M182, CSIG, UTP30	uc002dbp.1	O76021	OTTHUMG00000129824	ENST00000571133.1:c.242G>T	chr16.hg19:g.11944139C>A	ENSP00000460871:p.Arg81Ile	53.0	0.0		63.0	31.0	NM_015659	B4DJ58|D3DUG7|Q2M1T7|Q6PL22|Q8IWS7|Q8WUZ1|Q9HDA9|Q9Y3Z9	Missense_Mutation	SNP	ENST00000571133.1	hg19	CCDS10551.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001072	0.74818	.	.	ENSG00000171490	ENST00000355674;ENST00000396503	T	0.42900	0.96	5.91	-3.56	0.04626	Ribosomal protein L1, 2-layer alpha/beta-sandwich (1);Ribosomal protein L1, superfamily (1);	0.550375	0.20217	N	0.096790	T	0.55577	0.1929	M	0.83118	2.625	0.21967	N	0.999444	D;D	0.63046	0.992;0.986	P;P	0.61800	0.859;0.894	T	0.52866	-0.8518	10	0.72032	D	0.01	.	8.7755	0.34758	0.0:0.4364:0.0959:0.4677	.	81;81	Q32Q62;O76021	.;RL1D1_HUMAN	I	81	ENSP00000347897:R81I	ENSP00000347897:R81I	R	-	2	0	RSL1D1	11851640	0.535000	0.26370	0.251000	0.24312	0.993000	0.82548	-0.169000	0.09911	-0.581000	0.05937	0.555000	0.69702	AGA	.	.		0.318	RSL1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252059.2	NM_015659	
TMC7	79905	hgsc.bcm.edu	37	16	19049310	19049310	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:19049310G>T	ENST00000304381.5	+	8	1250	c.1120G>T	c.(1120-1122)Ggg>Tgg	p.G374W	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000421369.3_Missense_Mutation_p.G264W|TMC7_ENST00000569532.1_Missense_Mutation_p.G374W	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	374					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GGCTGTTTTAGGGGCATGCTT	0.398																																					p.G374W		Atlas-SNP	.											.	TMC7	75	.	0			c.G1120T						.						214.0	185.0	195.0					16																	19049310		2197	4300	6497	SO:0001583	missense	79905	exon8			GTTTTAGGGGCAT	AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.1120G>T	chr16.hg19:g.19049310G>T	ENSP00000304710:p.Gly374Trp	120.0	0.0		283.0	41.0	NM_024847	E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	ENST00000304381.5	hg19	CCDS10573.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886793	0.33348	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.53640	0.61;0.61	5.5	3.51	0.40186	.	0.422877	0.25319	N	0.031530	T	0.37293	0.0998	L	0.52126	1.63	0.22601	N	0.998941	B;B	0.33904	0.229;0.431	B;B	0.31290	0.08;0.127	T	0.36040	-0.9764	10	0.59425	D	0.04	.	6.4874	0.22097	0.085:0.0:0.5074:0.4076	.	374;374	Q7Z402;B3KSZ3	TMC7_HUMAN;.	W	374;264	ENSP00000304710:G374W;ENSP00000397081:G264W	ENSP00000304710:G374W	G	+	1	0	TMC7	18956811	0.998000	0.40836	0.051000	0.19133	0.548000	0.35241	4.618000	0.61211	1.284000	0.44531	0.650000	0.86243	GGG	.	.		0.398	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254276.3	NM_024847	
GGA2	23062	hgsc.bcm.edu	37	16	23489767	23489767	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:23489767G>A	ENST00000309859.4	-	13	1296	c.1214C>T	c.(1213-1215)cCa>cTa	p.P405L	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	405	Unstructured hinge.				intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACCACCGCCTGGCAGCGTGCT	0.532																																					p.P405L		Atlas-SNP	.											.	GGA2	49	.	0			c.C1214T						.						110.0	99.0	103.0					16																	23489767		2197	4300	6497	SO:0001583	missense	23062	exon13			CCGCCTGGCAGCG	AF190863	CCDS10611.1	16p12	2010-02-12	2010-02-12		ENSG00000103365	ENSG00000103365			16064	protein-coding gene	gene with protein product		606005				10747088, 10749927	Standard	NM_015044		Approved	VEAR, KIAA1080	uc002dlq.3	Q9UJY4	OTTHUMG00000096957	ENST00000309859.4:c.1214C>T	chr16.hg19:g.23489767G>A	ENSP00000311962:p.Pro405Leu	63.0	0.0		158.0	18.0	NM_015044	D3DWF0|O14564|Q9NYN2|Q9UPS2	Missense_Mutation	SNP	ENST00000309859.4	hg19	CCDS10611.1	.	.	.	.	.	.	.	.	.	.	G	9.964	1.223606	0.22457	.	.	ENSG00000103365	ENST00000309859	T	0.14893	2.47	4.11	2.0	0.26442	.	487.764000	0.00166	N	0.000000	T	0.19208	0.0461	L	0.54323	1.7	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19614	-1.0300	10	0.34782	T	0.22	-0.0382	5.4904	0.16773	0.2876:0.0:0.7124:0.0	.	405	Q9UJY4	GGA2_HUMAN	L	405	ENSP00000311962:P405L	ENSP00000311962:P405L	P	-	2	0	GGA2	23397268	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.371000	0.20450	0.403000	0.25479	-0.345000	0.07892	CCA	.	.		0.532	GGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214019.1		
IL21R	50615	hgsc.bcm.edu	37	16	27448870	27448870	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:27448870C>A	ENST00000337929.3	+	4	687	c.214C>A	c.(214-216)Cac>Aac	p.H72N	IL21R_ENST00000395755.1_Missense_Mutation_p.H72N|IL21R_ENST00000564089.1_Missense_Mutation_p.H72N|IL21R_ENST00000395754.4_Missense_Mutation_p.H72N	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	72	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CAGGTCGGCCCACAATGCCAC	0.557			T	BCL6	NHL																																p.H94N		Atlas-SNP	.		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	.	IL21R	95	.	0			c.C280A						.						131.0	100.0	111.0					16																	27448870		2197	4300	6497	SO:0001583	missense	50615	exon5			TCGGCCCACAATG	AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.214C>A	chr16.hg19:g.27448870C>A	ENSP00000338010:p.His72Asn	32.0	0.0		80.0	9.0	NM_181079	A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	ENST00000337929.3	hg19	CCDS10630.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.711849	0.30322	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	D;D;D	0.95885	-3.84;-3.84;-3.84	4.65	4.65	0.58169	Fibronectin, type III (1);	0.407180	0.21333	N	0.076263	D	0.93138	0.7815	M	0.66939	2.045	0.37177	D	0.903308	P	0.37276	0.589	B	0.35813	0.211	D	0.92638	0.6122	10	0.14656	T	0.56	-17.6511	13.3953	0.60849	0.0:1.0:0.0:0.0	.	72	Q9HBE5	IL21R_HUMAN	N	72	ENSP00000338010:H72N;ENSP00000379104:H72N;ENSP00000379103:H72N	ENSP00000338010:H72N	H	+	1	0	IL21R	27356371	0.045000	0.20229	0.811000	0.32455	0.038000	0.13279	0.197000	0.17197	2.271000	0.75665	0.650000	0.86243	CAC	.	.		0.557	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254578.2	NM_181078	
GTF3C1	2975	hgsc.bcm.edu	37	16	27517278	27517278	+	Missense_Mutation	SNP	G	G	T	rs140459536		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:27517278G>T	ENST00000356183.4	-	10	1727	c.1712C>A	c.(1711-1713)gCg>gAg	p.A571E	GTF3C1_ENST00000561623.1_Missense_Mutation_p.A571E	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	571					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GTTGCTGTCCGCACAGTGGGA	0.567																																					p.A571E		Atlas-SNP	.											.	GTF3C1	210	.	0			c.C1712A						.						139.0	115.0	123.0					16																	27517278		2197	4300	6497	SO:0001583	missense	2975	exon10			CTGTCCGCACAGT	U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.1712C>A	chr16.hg19:g.27517278G>T	ENSP00000348510:p.Ala571Glu	58.0	0.0		148.0	19.0	NM_001520	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	ENST00000356183.4	hg19	CCDS32414.1	.	.	.	.	.	.	.	.	.	.	G	0.498	-0.872140	0.02570	.	.	ENSG00000077235	ENST00000356183;ENST00000388971	T	0.22539	1.95	5.39	2.83	0.33086	.	1.419090	0.03886	N	0.277842	T	0.12050	0.0293	N	0.19112	0.55	0.09310	N	1	B;B	0.18610	0.001;0.029	B;B	0.12156	0.0;0.007	T	0.28427	-1.0044	10	0.02654	T	1	-4.6393	5.1223	0.14867	0.7147:0.0:0.2853:0.0	.	571;571	Q12789;Q12789-3	TF3C1_HUMAN;.	E	571;569	ENSP00000348510:A571E	ENSP00000348510:A571E	A	-	2	0	GTF3C1	27424779	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	0.574000	0.23714	0.984000	0.38629	-0.302000	0.09304	GCG	.	G|1.000;A|0.000		0.567	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433856.1	NM_001520	
CD19	930	hgsc.bcm.edu	37	16	28946809	28946809	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:28946809G>A	ENST00000324662.3	+	5	924	c.880G>A	c.(880-882)Gct>Act	p.A294T	CD19_ENST00000567541.1_Missense_Mutation_p.A294T|CD19_ENST00000538922.1_Missense_Mutation_p.A294T			P15391	CD19_HUMAN	CD19 molecule	294					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GAAGGTCTCAGCTGTGACTTT	0.547																																					p.A294T		Atlas-SNP	.											.	CD19	65	.	0			c.G880A						.						318.0	243.0	269.0					16																	28946809		2197	4300	6497	SO:0001583	missense	930	exon5			GTCTCAGCTGTGA		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.880G>A	chr16.hg19:g.28946809G>A	ENSP00000313419:p.Ala294Thr	152.0	0.0		304.0	21.0	NM_001178098	A0N0P9|F5H635|Q96S68|Q9BRD6	Missense_Mutation	SNP	ENST00000324662.3	hg19	CCDS10644.1	.	.	.	.	.	.	.	.	.	.	G	17.04	3.287512	0.59976	.	.	ENSG00000177455	ENST00000538922;ENST00000380673;ENST00000324662;ENST00000537306	T;T	0.42131	0.98;0.98	5.05	5.05	0.67936	.	0.982646	0.08269	N	0.971709	T	0.45736	0.1357	L	0.46157	1.445	0.24613	N	0.993711	P;P	0.44139	0.827;0.734	B;B	0.44133	0.442;0.257	T	0.41197	-0.9522	10	0.54805	T	0.06	-0.3878	13.8988	0.63790	0.0:0.0:1.0:0.0	.	294;294	F5H635;P15391	.;CD19_HUMAN	T	294;101;294;143	ENSP00000437940:A294T;ENSP00000313419:A294T	ENSP00000313419:A294T	A	+	1	0	CD19	28854310	0.582000	0.26749	0.093000	0.20910	0.383000	0.30230	2.830000	0.48136	2.337000	0.79520	0.313000	0.20887	GCT	.	.		0.547	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2		
SETD1A	9739	hgsc.bcm.edu	37	16	30977205	30977205	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:30977205G>T	ENST00000262519.8	+	8	2689	c.2003G>T	c.(2002-2004)cGa>cTa	p.R668L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	668					histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CTCATGGACCGACTTGGGGCT	0.617																																					p.R668L		Atlas-SNP	.											.	SETD1A	143	.	0			c.G2003T						.						76.0	73.0	74.0					16																	30977205		2197	4300	6497	SO:0001583	missense	9739	exon8			TGGACCGACTTGG	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.2003G>T	chr16.hg19:g.30977205G>T	ENSP00000262519:p.Arg668Leu	90.0	0.0		191.0	25.0	NM_014712	A6NP62|Q6PIF3|Q8TAJ6	Missense_Mutation	SNP	ENST00000262519.8	hg19	CCDS32435.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.694952	0.30052	.	.	ENSG00000099381	ENST00000262519	D	0.94000	-3.33	4.67	4.67	0.58626	.	0.084306	0.49916	D	0.000124	D	0.92093	0.7494	N	0.19112	0.55	0.46356	D	0.999007	D	0.63880	0.993	D	0.74023	0.982	D	0.87573	0.2479	10	0.02654	T	1	.	16.5112	0.84286	0.0:0.0:1.0:0.0	.	668	O15047	SET1A_HUMAN	L	668	ENSP00000262519:R668L	ENSP00000262519:R668L	R	+	2	0	SETD1A	30884706	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.187000	0.42602	2.434000	0.82447	0.655000	0.94253	CGA	.	.		0.617	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712	
ZNF668	79759	hgsc.bcm.edu	37	16	31072640	31072640	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:31072640A>T	ENST00000538906.1	-	3	2393	c.1609T>A	c.(1609-1611)Tca>Aca	p.S537T	ZNF668_ENST00000300849.4_Missense_Mutation_p.S537T|ZNF668_ENST00000539836.3_Missense_Mutation_p.S560T|ZNF668_ENST00000394983.2_Missense_Mutation_p.S537T|ZNF668_ENST00000417110.2_5'Flank|ZNF668_ENST00000426488.2_Missense_Mutation_p.S560T|ZNF668_ENST00000535577.1_Missense_Mutation_p.S537T	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	537					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(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCCGGGTGTGAGCGCTCGTGC	0.667																																					p.S560T	Colon(181;1111 1980 5060 10512 25785)	Atlas-SNP	.											.	ZNF668	121	.	0			c.T1678A						.						39.0	39.0	39.0					16																	31072640		2197	4300	6497	SO:0001583	missense	79759	exon4			GGTGTGAGCGCTC		CCDS10701.1, CCDS54003.1	16p11.2	2013-01-08			ENSG00000167394	ENSG00000167394		"""Zinc fingers, C2H2-type"""	25821	protein-coding gene	gene with protein product						12477932	Standard	NM_024706		Approved	FLJ13479	uc021tgt.1	Q96K58	OTTHUMG00000047357	ENST00000538906.1:c.1609T>A	chr16.hg19:g.31072640A>T	ENSP00000440149:p.Ser537Thr	45.0	0.0		113.0	9.0	NM_001172669	C9JHH8|F5H7E7|Q59EV1|Q8N669|Q9H8L4	Missense_Mutation	SNP	ENST00000538906.1	hg19	CCDS10701.1	.	.	.	.	.	.	.	.	.	.	A	12.98	2.100316	0.37048	.	.	ENSG00000167394	ENST00000539836;ENST00000535577;ENST00000538906;ENST00000394983;ENST00000300849	T;T;T;T;T	0.16073	2.37;2.37;2.37;2.37;2.37	5.04	3.92	0.45320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.340229	0.27275	N	0.020117	T	0.08492	0.0211	N	0.10760	0.04	0.28473	N	0.915336	B	0.17268	0.021	B	0.18561	0.022	T	0.19745	-1.0296	10	0.33940	T	0.23	-14.3349	8.5754	0.33595	0.6922:0.0:0.0:0.3078	.	537	Q96K58	ZN668_HUMAN	T	560;537;537;537;537	ENSP00000442573:S560T;ENSP00000441349:S537T;ENSP00000440149:S537T;ENSP00000378434:S537T;ENSP00000300849:S537T	ENSP00000300849:S537T	S	-	1	0	ZNF668	30980141	0.056000	0.20664	1.000000	0.80357	0.970000	0.65996	0.209000	0.17435	0.905000	0.36596	0.459000	0.35465	TCA	.	.		0.667	ZNF668-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000108516.2	NM_024706	
DNAJA2	10294	hgsc.bcm.edu	37	16	46991020	46991020	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:46991020C>A	ENST00000317089.5	-	9	1375	c.1160G>T	c.(1159-1161)aGg>aTg	p.R387M		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	387					positive regulation of cell proliferation (GO:0008284)|protein refolding (GO:0042026)|response to heat (GO:0009408)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				GGCTTCACGCCTCTGACCACC	0.478																																					p.R387M		Atlas-SNP	.											.	DNAJA2	28	.	0			c.G1160T						.						268.0	262.0	264.0					16																	46991020		2203	4300	6503	SO:0001583	missense	10294	exon9			TCACGCCTCTGAC	AF116720	CCDS10726.1	16q12.1	2011-09-02			ENSG00000069345	ENSG00000069345		"""Heat shock proteins / DNAJ (HSP40)"""	14884	protein-coding gene	gene with protein product		611322				9710638, 11147971	Standard	NM_005880		Approved	HIRIP4, DNAJ, CPR3, DNJ3	uc002eeo.2	O60884	OTTHUMG00000133104	ENST00000317089.5:c.1160G>T	chr16.hg19:g.46991020C>A	ENSP00000314030:p.Arg387Met	69.0	0.0		166.0	12.0	NM_005880	B2R7L7|O14711	Missense_Mutation	SNP	ENST00000317089.5	hg19	CCDS10726.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739595	0.89573	.	.	ENSG00000069345	ENST00000317089	T	0.38722	1.12	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.60353	0.2262	M	0.78456	2.415	0.80722	D	1	D	0.57571	0.98	P	0.52672	0.706	T	0.64769	-0.6329	10	0.62326	D	0.03	-18.9488	19.5403	0.95271	0.0:1.0:0.0:0.0	.	387	O60884	DNJA2_HUMAN	M	387	ENSP00000314030:R387M	ENSP00000314030:R387M	R	-	2	0	DNAJA2	45548521	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.610000	0.82949	2.623000	0.88846	0.561000	0.74099	AGG	.	.		0.478	DNAJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256769.2		
CHD9	80205	hgsc.bcm.edu	37	16	53358701	53358701	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:53358701T>G	ENST00000398510.3	+	38	8675	c.8588T>G	c.(8587-8589)cTc>cGc	p.L2863R	CHD9_ENST00000564845.1_Missense_Mutation_p.L2847R|CHD9_ENST00000566029.1_Missense_Mutation_p.L2847R|CHD9_ENST00000447540.1_Missense_Mutation_p.L2848R			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2863					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CCAAGTCCTCTCAATGAAAAC	0.398																																					p.L2847R		Atlas-SNP	.											.	CHD9	203	.	0			c.T8540G						.						35.0	33.0	34.0					16																	53358701		1871	4102	5973	SO:0001583	missense	80205	exon39			GTCCTCTCAATGA	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8588T>G	chr16.hg19:g.53358701T>G	ENSP00000381522:p.Leu2863Arg	97.0	0.0		188.0	59.0	NM_025134	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	hg19		.	.	.	.	.	.	.	.	.	.	T	6.687	0.495279	0.12762	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.85171	-1.95	5.06	5.06	0.68205	.	0.000000	0.46758	D	0.000275	T	0.73837	0.3638	N	0.24115	0.695	0.31914	N	0.614243	P;B;B;B	0.51933	0.949;0.0;0.296;0.0	P;B;B;B	0.46585	0.521;0.002;0.066;0.002	T	0.72174	-0.4370	10	0.09843	T	0.71	-5.4299	5.9372	0.19173	0.2551:0.0:0.1334:0.6114	.	929;2848;2863;2847	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	R	2848;2847;929	ENSP00000396345:L2848R	ENSP00000381522:L2847R	L	+	2	0	CHD9	51916202	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.144000	0.50616	2.028000	0.59812	0.533000	0.62120	CTC	.	.		0.398	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
SLC38A7	55238	hgsc.bcm.edu	37	16	58706093	58706093	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:58706093G>T	ENST00000570101.1	-	8	1821	c.938C>A	c.(937-939)tCc>tAc	p.S313Y	SLC38A7_ENST00000566953.1_5'UTR|SLC38A7_ENST00000219320.4_Missense_Mutation_p.S313Y|SLC38A7_ENST00000564010.1_Missense_Mutation_p.S224Y|SLC38A7_ENST00000564100.1_Intron			Q9NVC3	S38A7_HUMAN	solute carrier family 38, member 7	313					sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	L-alanine transmembrane transporter activity (GO:0015180)|L-amino acid transmembrane transporter activity (GO:0015179)|L-asparagine transmembrane transporter activity (GO:0015182)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|L-glutamine transmembrane transporter activity (GO:0015186)|L-histidine transmembrane transporter activity (GO:0005290)|L-leucine transmembrane transporter activity (GO:0015190)|L-methionine transmembrane transporter activity (GO:0015191)|L-serine transmembrane transporter activity (GO:0015194)			endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CGAGGGATAGGACAGGAGCAC	0.622																																					p.S313Y		Atlas-SNP	.											.	SLC38A7	26	.	0			c.C938A						.						50.0	40.0	43.0					16																	58706093		2187	4289	6476	SO:0001583	missense	55238	exon9			GGATAGGACAGGA	BC001961	CCDS10800.1	16q21	2013-05-22			ENSG00000103042	ENSG00000103042		"""Solute carriers"""	25582	protein-coding gene	gene with protein product		614236					Standard	XM_006721229		Approved	FLJ10815	uc002eod.1	Q9NVC3	OTTHUMG00000133491	ENST00000570101.1:c.938C>A	chr16.hg19:g.58706093G>T	ENSP00000454646:p.Ser313Tyr	53.0	0.0		193.0	25.0	NM_018231	Q53GJ9|Q9H9I5	Missense_Mutation	SNP	ENST00000570101.1	hg19	CCDS10800.1	.	.	.	.	.	.	.	.	.	.	G	32	5.151293	0.94645	.	.	ENSG00000103042	ENST00000219320	T	0.02812	4.15	5.36	5.36	0.76844	.	0.110975	0.64402	D	0.000004	T	0.16428	0.0395	M	0.77313	2.365	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.00215	-1.1911	9	.	.	.	.	18.0759	0.89427	0.0:0.0:1.0:0.0	.	313	Q9NVC3	S38A7_HUMAN	Y	313	ENSP00000219320:S313Y	.	S	-	2	0	SLC38A7	57263594	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	9.360000	0.97119	2.497000	0.84241	0.591000	0.81541	TCC	.	.		0.622	SLC38A7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422206.2	NM_018231	
CES4A	283848	hgsc.bcm.edu	37	16	67029593	67029593	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:67029593A>G	ENST00000326686.5	+	2	121	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	CES4A_ENST00000540947.2_Missense_Mutation_p.M41V|CES4A_ENST00000398354.1_Missense_Mutation_p.M41V|CES4A_ENST00000541479.1_Missense_Mutation_p.M64V|CES4A_ENST00000338718.4_Missense_Mutation_p.M64V			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	41						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						AGGAAAACAGATGCATGTGGG	0.542																																					p.M41V		Atlas-SNP	.											.	CES4A	24	.	0			c.A121G						.						115.0	114.0	114.0					16																	67029593		1905	4134	6039	SO:0001583	missense	283848	exon2			AAACAGATGCATG	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.121A>G	chr16.hg19:g.67029593A>G	ENSP00000314145:p.Met41Val	58.0	0.0		95.0	4.0	NM_173815	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	hg19		.	.	.	.	.	.	.	.	.	.	A	0.017	-1.505528	0.00992	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000543913;ENST00000398354;ENST00000326686;ENST00000538199	T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;3.31;-0.05	5.01	-2.64	0.06114	Carboxylesterase, type B (1);	.	.	.	.	T	0.25717	0.0626	N	0.00960	-1.095	0.09310	N	1	B;B;B	0.09022	0.0;0.0;0.002	B;B;B	0.06405	0.002;0.001;0.002	T	0.34279	-0.9835	9	0.02654	T	1	.	12.6276	0.56638	0.3867:0.0:0.6133:0.0	.	64;41;64	F8WEE9;Q5XG92;F5H5S4	.;EST4A_HUMAN;.	V	41;64;64;41;41;41;4	ENSP00000444052:M41V;ENSP00000443175:M64V;ENSP00000340714:M64V;ENSP00000381397:M41V;ENSP00000314145:M41V;ENSP00000441103:M4V	ENSP00000314145:M41V	M	+	1	0	CES4A	65587094	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.194000	0.09559	-0.772000	0.04602	-0.256000	0.11100	ATG	.	.		0.542	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	
CES4A	283848	hgsc.bcm.edu	37	16	67038121	67038121	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:67038121G>T	ENST00000326686.5	+	9	1074	c.1074G>T	c.(1072-1074)ttG>ttT	p.L358F	CES4A_ENST00000540947.2_Missense_Mutation_p.L358F|CES4A_ENST00000398354.1_Missense_Mutation_p.L358F|CES4A_ENST00000541479.1_Missense_Mutation_p.L381F|CES4A_ENST00000540579.1_Missense_Mutation_p.L260F|CES4A_ENST00000535696.1_Missense_Mutation_p.L264F|CES4A_ENST00000338718.4_Missense_Mutation_p.L381F			Q5XG92	EST4A_HUMAN	carboxylesterase 4A	358						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						ATTGGCTCTTGCCTTATGTAA	0.517																																					p.L358F		Atlas-SNP	.											.	CES4A	24	.	0			c.G1074T						.						149.0	141.0	144.0					16																	67038121		1981	4172	6153	SO:0001583	missense	283848	exon9			GCTCTTGCCTTAT	AK094783	CCDS42174.1, CCDS42174.2, CCDS54024.1, CCDS54025.1, CCDS42174.3	16q22.1	2011-10-25	2010-10-12	2010-10-12	ENSG00000172824	ENSG00000172824		"""Carboxylesterases"""	26741	protein-coding gene	gene with protein product			"""carboxylesterase 8 (putative)"""	CES8		12975309, 17364878, 20931200	Standard	NM_001190201		Approved	FLJ37464	uc010vix.2	Q5XG92		ENST00000326686.5:c.1074G>T	chr16.hg19:g.67038121G>T	ENSP00000314145:p.Leu358Phe	70.0	0.0		166.0	10.0	NM_173815	A8KAJ6|B7Z349|B7Z3L2|B7Z6R3|Q6UX55|Q8N9F4	Missense_Mutation	SNP	ENST00000326686.5	hg19		.	.	.	.	.	.	.	.	.	.	g	7.020	0.558476	0.13436	.	.	ENSG00000172824	ENST00000540947;ENST00000541479;ENST00000338718;ENST00000398354;ENST00000326686;ENST00000538199;ENST00000540579;ENST00000535696	T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	4.63	1.3	0.21679	Carboxylesterase, type B (1);	0.000000	0.35772	N	0.002995	T	0.69251	0.3090	L	0.56199	1.76	0.51767	D	0.999931	B;D;B;B	0.59767	0.026;0.986;0.0;0.001	B;P;B;B	0.59221	0.018;0.854;0.021;0.01	T	0.67684	-0.5607	10	0.87932	D	0	.	6.5077	0.22204	0.205:0.1878:0.6072:0.0	.	264;381;358;381	Q5XG92-7;F8WEE9;Q5XG92;F5H5S4	.;.;EST4A_HUMAN;.	F	358;381;381;358;358;321;260;264	ENSP00000444052:L358F;ENSP00000443175:L381F;ENSP00000340714:L381F;ENSP00000381397:L358F;ENSP00000314145:L358F;ENSP00000441103:L321F;ENSP00000441907:L260F;ENSP00000441644:L264F	ENSP00000314145:L358F	L	+	3	2	CES4A	65595622	0.910000	0.30920	0.908000	0.35775	0.142000	0.21351	-0.083000	0.11286	0.372000	0.24591	0.486000	0.48141	TTG	.	.		0.517	CES4A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173815	
ZDHHC1	29800	hgsc.bcm.edu	37	16	67432171	67432171	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:67432171C>G	ENST00000348579.2	-	8	1212	c.871G>C	c.(871-873)Gcc>Ccc	p.A291P	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	291					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ACCCCCTTGGCCTCCTGTGGT	0.637																																					p.A291P		Atlas-SNP	.											.	ZDHHC1	28	.	0			c.G871C						.						121.0	106.0	111.0					16																	67432171		2198	4300	6498	SO:0001583	missense	29800	exon8			CCTTGGCCTCCTG	U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.871G>C	chr16.hg19:g.67432171C>G	ENSP00000340299:p.Ala291Pro	57.0	0.0		125.0	23.0	NM_013304	O15461	Missense_Mutation	SNP	ENST00000348579.2	hg19	CCDS10836.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.529073	0.44969	.	.	ENSG00000159714	ENST00000348579	T	0.37752	1.18	5.46	4.49	0.54785	.	1.706460	0.02790	N	0.121901	T	0.28632	0.0709	L	0.27053	0.805	0.32577	N	0.528965	B	0.15473	0.013	B	0.12156	0.007	T	0.30297	-0.9983	10	0.30078	T	0.28	.	5.4746	0.16688	0.1477:0.6332:0.1425:0.0765	.	291	Q8WTX9	ZDHC1_HUMAN	P	291	ENSP00000340299:A291P	ENSP00000340299:A291P	A	-	1	0	ZDHHC1	65989672	0.994000	0.37717	1.000000	0.80357	0.861000	0.49209	0.541000	0.23207	1.260000	0.44134	0.407000	0.27541	GCC	.	.		0.637	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268845.1	NM_013304	
CDH1	999	hgsc.bcm.edu	37	16	68856129	68856129	+	Splice_Site	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:68856129G>A	ENST00000261769.5	+	12	2127		c.e12+1		CDH1_ENST00000562836.1_Splice_Site|CDH1_ENST00000422392.2_Splice_Site|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACGACCCAAGTGGGTACCTG	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																												.		Atlas-SNP	.	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	CDH1,NS,carcinoma,0,2	CDH1	535	.	0			c.1936+1G>A						.						72.0	60.0	64.0					16																	68856129		2198	4300	6498	SO:0001630	splice_region_variant	999	exon12	Familial Cancer Database	HDGC	ACCCAAGTGGGTA	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1936+1G>A	chr16.hg19:g.68856129G>A		46.0	0.0		100.0	4.0	NM_004360	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	ENST00000261769.5	hg19	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025419	0.35701	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4194	0.90584	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH1	67413630	1.000000	0.71417	0.540000	0.28089	0.048000	0.14542	7.958000	0.87877	2.697000	0.92050	0.632000	0.83419	.	.	.		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	Intron
AP1G1	164	hgsc.bcm.edu	37	16	71823203	71823203	+	Silent	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:71823203G>A	ENST00000299980.4	-	2	621	c.180C>T	c.(178-180)ggC>ggT	p.G60G	AP1G1_ENST00000423132.2_Silent_p.G60G|AP1G1_ENST00000570297.1_5'Flank|AP1G1_ENST00000433195.2_Silent_p.G83G|AP1G1_ENST00000569748.1_Silent_p.G60G|AP1G1_ENST00000393512.3_Silent_p.G60G	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	60					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GAGCAGGGTAGCCCAGCATGT	0.453																																					p.G60G		Atlas-SNP	.											.	AP1G1	83	.	0			c.C180T						.						128.0	105.0	112.0					16																	71823203		2198	4300	6498	SO:0001819	synonymous_variant	164	exon2			AGGGTAGCCCAGC	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.180C>T	chr16.hg19:g.71823203G>A		64.0	0.0		147.0	19.0	NM_001030007	O75709|O75842|Q9UG09|Q9Y3U4	Silent	SNP	ENST00000299980.4	hg19	CCDS32480.1																																																																																			.	.		0.453	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1		
ZFHX3	463	hgsc.bcm.edu	37	16	72984568	72984568	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:72984568C>G	ENST00000268489.5	-	3	3688	c.3016G>C	c.(3016-3018)Gac>Cac	p.D1006H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.D92H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1006					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACGTGCTTGTCTGTCTTGCAG	0.607																																					p.D1006H		Atlas-SNP	.											.	ZFHX3	404	.	0			c.G3016C						.						165.0	130.0	142.0					16																	72984568		2198	4300	6498	SO:0001583	missense	463	exon3			GCTTGTCTGTCTT	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.3016G>C	chr16.hg19:g.72984568C>G	ENSP00000268489:p.Asp1006His	88.0	0.0		133.0	52.0	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	hg19	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519066	0.64634	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.63744	-0.06;-0.06	5.21	5.21	0.72293	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.52532	D	0.000067	T	0.62183	0.2407	N	0.03224	-0.385	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75001	-0.3471	10	0.87932	D	0	.	18.7673	0.91878	0.0:1.0:0.0:0.0	.	1006	Q15911	ZFHX3_HUMAN	H	1006;92	ENSP00000268489:D1006H;ENSP00000438926:D92H	ENSP00000268489:D1006H	D	-	1	0	ZFHX3	71542069	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.767000	0.85331	2.415000	0.81967	0.650000	0.86243	GAC	.	.		0.607	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
ADAD2	161931	hgsc.bcm.edu	37	16	84229967	84229967	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:84229967T>A	ENST00000315906.5	+	8	1569	c.1517T>A	c.(1516-1518)gTg>gAg	p.V506E	RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|ADAD2_ENST00000268624.3_Missense_Mutation_p.V588E|RP11-486L19.2_ENST00000561900.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	506	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						ACCGGGCGTGTGAAGGCCAAG	0.657																																					p.V588E		Atlas-SNP	.											.	ADAD2	46	.	0			c.T1763A						.						19.0	23.0	22.0					16																	84229967		2108	4158	6266	SO:0001583	missense	161931	exon9			GGCGTGTGAAGGC	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.1517T>A	chr16.hg19:g.84229967T>A	ENSP00000325153:p.Val506Glu	36.0	0.0		90.0	30.0	NM_139174	B2RCL6|Q8NA94	Missense_Mutation	SNP	ENST00000315906.5	hg19	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	T	12.43	1.936643	0.34189	.	.	ENSG00000140955	ENST00000315906;ENST00000268624	D;D	0.93189	-3.18;-3.18	5.48	4.39	0.52855	Adenosine deaminase/editase (2);	0.074280	0.51477	D	0.000088	D	0.95837	0.8645	M	0.81341	2.54	0.37920	D	0.931675	D;D	0.76494	0.999;0.999	D;D	0.72982	0.979;0.968	D	0.95808	0.8839	10	0.72032	D	0.01	-33.6413	8.1071	0.30892	0.0:0.0912:0.0:0.9088	.	506;588	Q8NCV1;Q8NCV1-2	ADAD2_HUMAN;.	E	506;588	ENSP00000325153:V506E;ENSP00000268624:V588E	ENSP00000268624:V588E	V	+	2	0	ADAD2	82787468	1.000000	0.71417	0.999000	0.59377	0.004000	0.04260	2.456000	0.44997	0.918000	0.36919	-0.250000	0.11733	GTG	.	.		0.657	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174	
SPNS2	124976	hgsc.bcm.edu	37	17	4416595	4416595	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:4416595C>T	ENST00000329078.3	+	2	634	c.424C>T	c.(424-426)Ctg>Ttg	p.L142L		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	142					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						AGGCGCCGGCCTGCTGCAGTC	0.662																																					p.L142L		Atlas-SNP	.											.	SPNS2	24	.	0			c.C424T						.						60.0	62.0	62.0					17																	4416595		1568	3582	5150	SO:0001819	synonymous_variant	124976	exon2			GCCGGCCTGCTGC	BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.424C>T	chr17.hg19:g.4416595C>T		38.0	0.0		77.0	4.0	NM_001124758	B9A1T3	Silent	SNP	ENST00000329078.3	hg19	CCDS42237.1																																																																																			.	.		0.662	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438802.1		
DLG4	1742	hgsc.bcm.edu	37	17	7097812	7097812	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7097812G>A	ENST00000399506.2	-	12	1495	c.1304C>T	c.(1303-1305)gCc>gTc	p.A435V	DLG4_ENST00000302955.6_Missense_Mutation_p.A432V|DLG4_ENST00000399510.2_Missense_Mutation_p.A478V			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	435	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	ATCAAACAGGGCCCTGGAGGG	0.597																																					p.A478V		Atlas-SNP	.											.	DLG4	110	.	0			c.C1433T						.						28.0	32.0	31.0					17																	7097812		2041	4198	6239	SO:0001583	missense	1742	exon14			AACAGGGCCCTGG	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1304C>T	chr17.hg19:g.7097812G>A	ENSP00000382425:p.Ala435Val	25.0	0.0		74.0	11.0	NM_001365	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	hg19		.	.	.	.	.	.	.	.	.	.	G	35	5.555178	0.96514	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.80304	-1.36;-1.36;-1.36	5.3	5.3	0.74995	Src homology-3 domain (4);	.	.	.	.	D	0.91358	0.7274	M	0.90309	3.105	0.80722	D	1	D;D;D;D	0.76494	0.995;0.999;0.998;0.989	D;D;D;D	0.79784	0.953;0.972;0.985;0.993	D	0.92680	0.6157	9	0.87932	D	0	.	16.5016	0.84259	0.0:0.0:1.0:0.0	.	475;435;432;478	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	V	435;432;478;478;375;478	ENSP00000382425:A435V;ENSP00000307471:A432V;ENSP00000382428:A478V	ENSP00000293813:A478V	A	-	2	0	DLG4	7038536	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.601000	0.98297	2.769000	0.95229	0.655000	0.94253	GCC	.	.		0.597	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	NM_001365	
GPS2	2874	hgsc.bcm.edu	37	17	7216697	7216697	+	Splice_Site	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7216697A>G	ENST00000380728.2	-	8	1025		c.e8+1		GPS2_ENST00000389167.5_Splice_Site|RP11-542C16.2_ENST00000575474.1_Splice_Site|GPS2_ENST00000391950.3_Splice_Site			Q13227	GPS2_HUMAN	G protein pathway suppressor 2						cell cycle (GO:0007049)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase inhibitor activity (GO:0005095)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GGATGTTATCACCTGTCTGAG	0.557											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									.		Atlas-SNP	.											.	GPS2	44	.	0			c.724+2T>C						.						99.0	102.0	101.0					17																	7216697		2203	4300	6503	SO:0001630	splice_region_variant	2874	exon9			GTTATCACCTGTC	U28963	CCDS11100.1	17p13.1	2006-04-29			ENSG00000132522	ENSG00000132522			4550	protein-coding gene	gene with protein product		601935				8943324	Standard	NM_004489		Approved		uc002gfx.1	Q13227	OTTHUMG00000102198	ENST00000380728.2:c.724+1T>C	chr17.hg19:g.7216697A>G		38.0	0.0	640	106.0	12.0	NM_004489	B4DXA1|Q6FHM8	Splice_Site	SNP	ENST00000380728.2	hg19	CCDS11100.1	.	.	.	.	.	.	.	.	.	.	A	16.16	3.044178	0.55110	.	.	ENSG00000132522	ENST00000391950;ENST00000380728;ENST00000389167;ENST00000315601	.	.	.	3.67	3.67	0.42095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.6611	0.45702	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GPS2	7157421	0.999000	0.42202	1.000000	0.80357	0.958000	0.62258	4.623000	0.61247	1.899000	0.54978	0.523000	0.50628	.	.	.		0.557	GPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000220048.4	NM_004489	Intron
TMEM102	284114	hgsc.bcm.edu	37	17	7339378	7339378	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7339378C>T	ENST00000323206.1	+	2	461	c.188C>T	c.(187-189)gCc>gTc	p.A63V	FGF11_ENST00000293829.4_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575235.1_5'Flank|TMEM102_ENST00000396568.1_Missense_Mutation_p.A63V|RP11-104H15.9_ENST00000570444.1_RNA	NM_178518.2	NP_848613.1	Q8N9M5	TM102_HUMAN	transmembrane protein 102	63					apoptotic process (GO:0006915)|positive regulation of cell adhesion (GO:0045785)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of T cell migration (GO:2000406)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|protein complex (GO:0043234)				kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				CTCCTCCGGGCCAAGGACTTT	0.632																																					p.A63V		Atlas-SNP	.											.	TMEM102	11	.	0			c.C188T						.						88.0	114.0	105.0					17																	7339378		2203	4299	6502	SO:0001583	missense	284114	exon2			TCCGGGCCAAGGA	AK094197	CCDS11104.1	17p13.1	2008-04-21			ENSG00000181284	ENSG00000181284			26722	protein-coding gene	gene with protein product		613936				12477932	Standard	NM_178518		Approved	FLJ36878	uc002ggx.1	Q8N9M5	OTTHUMG00000132901	ENST00000323206.1:c.188C>T	chr17.hg19:g.7339378C>T	ENSP00000315387:p.Ala63Val	46.0	0.0		199.0	32.0	NM_178518	D3DTP8	Missense_Mutation	SNP	ENST00000323206.1	hg19	CCDS11104.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232363	0.95207	.	.	ENSG00000181284	ENST00000323206;ENST00000396568	T;T	0.54479	0.57;0.57	5.66	5.66	0.87406	.	0.000000	0.56097	D	0.000039	T	0.72087	0.3417	M	0.72894	2.215	0.51012	D	0.999909	D	0.89917	1.0	D	0.74674	0.984	T	0.74237	-0.3730	10	0.72032	D	0.01	-8.6371	17.2341	0.86994	0.0:1.0:0.0:0.0	.	63	Q8N9M5	TM102_HUMAN	V	63	ENSP00000315387:A63V;ENSP00000379815:A63V	ENSP00000315387:A63V	A	+	2	0	TMEM102	7280102	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	4.801000	0.62532	2.652000	0.90054	0.655000	0.94253	GCC	.	.		0.632	TMEM102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256405.1	NM_178518	
TP53	7157	hgsc.bcm.edu	37	17	7577107	7577107	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7577107A>T	ENST00000269305.4	-	8	1020	c.831T>A	c.(829-831)tgT>tgA	p.C277*	TP53_ENST00000359597.4_Nonsense_Mutation_p.C277*|TP53_ENST00000445888.2_Nonsense_Mutation_p.C277*|TP53_ENST00000420246.2_Nonsense_Mutation_p.C277*|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Nonsense_Mutation_p.C277*|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in an osteosarcoma with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTCTCCCAGGACAGGCACAAA	0.547		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.C277X	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000455263,NS,carcinoma,-1,2	TP53	33396	.	38	Substitution - Nonsense(8)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(4)|Substitution - coding silent(4)|Insertion - Frameshift(2)|Unknown(2)|Substitution - Missense(2)|Insertion - In frame(1)	upper_aerodigestive_tract(6)|breast(6)|urinary_tract(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|central_nervous_system(2)|oesophagus(2)|lung(2)|biliary_tract(1)|large_intestine(1)|ovary(1)|prostate(1)	c.T831A	GRCh37	CM065496	TP53	M		.						72.0	62.0	65.0					17																	7577107		2203	4300	6503	SO:0001587	stop_gained	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	CCCAGGACAGGCA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.831T>A	chr17.hg19:g.7577107A>T	ENSP00000269305:p.Cys277*	35.0	0.0		67.0	10.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	37	6.040834	0.97226	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	5.13	1.53	0.23141	.	0.044315	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.0792	7.7422	0.28848	0.6581:0.0:0.3419:0.0	.	.	.	.	X	277;277;277;277;277;266;145	.	ENSP00000269305:C277X	C	-	3	2	TP53	7517832	0.987000	0.35691	1.000000	0.80357	0.977000	0.68977	0.281000	0.18810	0.383000	0.24910	0.379000	0.24179	TGT	.	.		0.547	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7887414}.|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCGGATAAGATGCTGAGGAGG	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.H193R	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,carcinoma,0,1	TP53	33396	.	193	Substitution - Missense(160)|Whole gene deletion(8)|Complex - deletion inframe(6)|Unknown(6)|Deletion - In frame(5)|Deletion - Frameshift(4)|Insertion - Frameshift(3)|Complex - frameshift(1)	lung(36)|upper_aerodigestive_tract(26)|ovary(20)|breast(18)|oesophagus(14)|haematopoietic_and_lymphoid_tissue(12)|endometrium(12)|biliary_tract(10)|liver(9)|stomach(7)|central_nervous_system(6)|large_intestine(6)|urinary_tract(5)|skin(5)|bone(4)|pancreas(2)|prostate(1)	c.A578G	GRCh37	CM083194|CM951225	TP53	M		.						97.0	87.0	90.0					17																	7578271		2203	4300	6503	SO:0001583	missense	7157	exon6	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	ATAAGATGCTGAG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.578A>G	chr17.hg19:g.7578271T>C	ENSP00000269305:p.His193Arg	64.0	0.0		188.0	23.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.03	2.413611	0.42817	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99850	-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16;-7.16	5.41	4.33	0.51752	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.92738	3.34	0.58432	D	0.999992	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	0.97536	1.0083	10	0.72032	D	0.01	-29.0766	9.707	0.40222	0.0:0.0827:0.0:0.9173	.	154;193;193;100;193;193;193	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	193;193;193;193;193;193;182;100;61;100;61	ENSP00000410739:H193R;ENSP00000352610:H193R;ENSP00000269305:H193R;ENSP00000398846:H193R;ENSP00000391127:H193R;ENSP00000391478:H193R;ENSP00000425104:H61R;ENSP00000423862:H100R	ENSP00000269305:H193R	H	-	2	0	TP53	7518996	1.000000	0.71417	0.814000	0.32528	0.023000	0.10783	7.996000	0.88334	1.001000	0.39076	-0.256000	0.11100	CAT	.	.		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	A	rs193920817		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7578449C>A	ENST00000269305.4	-	5	670	c.481G>T	c.(481-483)Gcc>Tcc	p.A161S	TP53_ENST00000359597.4_Missense_Mutation_p.A161S|TP53_ENST00000445888.2_Missense_Mutation_p.A161S|TP53_ENST00000420246.2_Missense_Mutation_p.A161S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.A161S|TP53_ENST00000413465.2_Missense_Mutation_p.A161S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TTGTAGATGGCCATGGCGCGG	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.A161S	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000545858,NS,lymphoid_neoplasm,0,1	TP53	33396	.	96	Substitution - Missense(63)|Deletion - Frameshift(10)|Deletion - In frame(9)|Whole gene deletion(8)|Complex - frameshift(3)|Insertion - Frameshift(2)|Complex - compound substitution(1)	lung(15)|large_intestine(13)|urinary_tract(8)|stomach(7)|central_nervous_system(7)|upper_aerodigestive_tract(6)|oesophagus(6)|pancreas(6)|haematopoietic_and_lymphoid_tissue(5)|endometrium(5)|bone(4)|liver(4)|breast(3)|ovary(3)|thyroid(1)|meninges(1)|peritoneum(1)|skin(1)	c.G481T						.						52.0	53.0	53.0					17																	7578449		2203	4300	6503	SO:0001583	missense	7157	exon5	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AGATGGCCATGGC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.481G>T	chr17.hg19:g.7578449C>A	ENSP00000269305:p.Ala161Ser	37.0	0.0		108.0	14.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.832703	0.50845	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99811	-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87;-6.87	5.59	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99711	0.9889	M	0.79805	2.47	0.48696	D	0.999696	D;P;D;D;D;D;D	0.89917	0.998;0.951;0.976;0.998;0.961;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.989;0.981;0.998;0.994;1.0;1.0	D	0.97397	0.9993	10	0.59425	D	0.04	-25.6622	14.7187	0.69289	0.0:0.8543:0.1457:0.0	.	122;161;161;68;161;161;161	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	S	161;161;161;161;161;161;150;68;29;68;29;161	ENSP00000410739:A161S;ENSP00000352610:A161S;ENSP00000269305:A161S;ENSP00000398846:A161S;ENSP00000391127:A161S;ENSP00000391478:A161S;ENSP00000425104:A29S;ENSP00000423862:A68S;ENSP00000424104:A161S	ENSP00000269305:A161S	A	-	1	0	TP53	7519174	1.000000	0.71417	1.000000	0.80357	0.121000	0.20230	1.014000	0.29950	1.498000	0.48600	0.655000	0.94253	GCC	.	.		0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH2	146754	hgsc.bcm.edu	37	17	7734001	7734001	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:7734001A>G	ENST00000572933.1	+	79	13531	c.12071A>G	c.(12070-12072)tAt>tGt	p.Y4024C	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y4024C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	4024					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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTGAGCCTCTATCTCGATGAG	0.542																																					p.Y4024C		Atlas-SNP	.											.	DNAH2	498	.	0			c.A12071G						.						75.0	73.0	74.0					17																	7734001		2203	4300	6503	SO:0001583	missense	146754	exon78			GCCTCTATCTCGA	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.12071A>G	chr17.hg19:g.7734001A>G	ENSP00000458355:p.Tyr4024Cys	64.0	0.0		161.0	19.0	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	hg19	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777868	0.70107	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.13657	2.57	5.84	5.84	0.93424	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	H	0.96547	3.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.67937	-0.5541	10	0.87932	D	0	.	15.1984	0.73116	1.0:0.0:0.0:0.0	.	3985;4024	Q9P225-2;Q9P225	.;DYH2_HUMAN	C	3985;4024	ENSP00000373825:Y4024C	ENSP00000353818:Y3985C	Y	+	2	0	DNAH2	7674726	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	5.509000	0.67012	2.243000	0.73865	0.533000	0.62120	TAT	.	.		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
DNAH9	1770	hgsc.bcm.edu	37	17	11775087	11775087	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:11775087A>T	ENST00000262442.4	+	52	10294	c.10226A>T	c.(10225-10227)tAc>tTc	p.Y3409F	DNAH9_ENST00000454412.2_Missense_Mutation_p.Y3409F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3409					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGAGGCCCTACCTGAGCCAG	0.488																																					p.Y3409F		Atlas-SNP	.											.	DNAH9	695	.	0			c.A10226T						.						95.0	104.0	101.0					17																	11775087		2203	4300	6503	SO:0001583	missense	1770	exon52			GGCCCTACCTGAG	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10226A>T	chr17.hg19:g.11775087A>T	ENSP00000262442:p.Tyr3409Phe	58.0	0.0		154.0	33.0	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	A	4.653	0.121327	0.08881	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.75589	-0.95;-0.95	4.82	3.72	0.42706	Dynein heavy chain, coiled coil stalk (1);	0.145258	0.48767	D	0.000178	T	0.43010	0.1228	N	0.01656	-0.775	0.80722	D	1	B	0.06786	0.001	B	0.13407	0.009	T	0.34354	-0.9832	10	0.07482	T	0.82	.	11.1169	0.48266	0.8614:0.0:0.0:0.1386	.	3409	Q9NYC9	DYH9_HUMAN	F	3409;3409;1991	ENSP00000262442:Y3409F;ENSP00000414874:Y3409F	ENSP00000262442:Y3409F	Y	+	2	0	DNAH9	11715812	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	5.868000	0.69605	0.939000	0.37446	0.523000	0.50628	TAC	.	.		0.488	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
DNAH9	1770	hgsc.bcm.edu	37	17	11786904	11786904	+	Splice_Site	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:11786904C>A	ENST00000262442.4	+	56	10876	c.10808C>A	c.(10807-10809)tCc>tAc	p.S3603Y	DNAH9_ENST00000454412.2_Splice_Site_p.S3603Y|DNAH9_ENST00000608377.1_5'UTR|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	3603	AAA 5. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATTTGCAGTCCGATCTCACA	0.498																																					p.S3603Y		Atlas-SNP	.											.	DNAH9	695	.	0			c.C10808A						.						112.0	99.0	103.0					17																	11786904		2203	4300	6503	SO:0001630	splice_region_variant	1770	exon56			TGCAGTCCGATCT	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.10807-1C>A	chr17.hg19:g.11786904C>A		44.0	0.0		116.0	11.0	NM_001372	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	hg19	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.197228	0.79015	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.27557	1.66;1.66	4.91	4.91	0.64330	.	0.200493	0.45361	D	0.000376	T	0.58708	0.2141	M	0.84948	2.725	0.80722	D	1	P	0.40211	0.707	P	0.55667	0.781	T	0.63323	-0.6663	10	0.72032	D	0.01	.	18.6493	0.91425	0.0:1.0:0.0:0.0	.	3603	Q9NYC9	DYH9_HUMAN	Y	3603;3603;2185	ENSP00000262442:S3603Y;ENSP00000414874:S3603Y	ENSP00000262442:S3603Y	S	+	2	0	DNAH9	11727629	0.998000	0.40836	0.984000	0.44739	0.961000	0.63080	3.923000	0.56469	2.709000	0.92574	0.655000	0.94253	TCC	.	.		0.498	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	Missense_Mutation
ARHGAP44	9912	hgsc.bcm.edu	37	17	12819314	12819314	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:12819314T>A	ENST00000379672.5	+	5	673	c.373T>A	c.(373-375)Ttt>Att	p.F125I	ARHGAP44_ENST00000340825.3_Missense_Mutation_p.F125I|ARHGAP44_ENST00000262444.9_Missense_Mutation_p.F125I|MIR1269B_ENST00000580405.1_RNA	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	125	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				exocytosis (GO:0006887)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endosome (GO:0005768)|leading edge membrane (GO:0031256)|synapse (GO:0045202)	GTPase activator activity (GO:0005096)|phospholipid binding (GO:0005543)			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						TGAGCCCCTGTTTTTGCTGGC	0.522																																					p.F125I		Atlas-SNP	.											.	ARHGAP44	55	.	0			c.T373A						.						80.0	81.0	80.0					17																	12819314		2080	4207	6287	SO:0001583	missense	9912	exon5			CCCCTGTTTTTGC		CCDS45616.1	17p12	2011-06-29			ENSG00000006740	ENSG00000006740		"""Rho GTPase activating proteins"""	29096	protein-coding gene	gene with protein product						19273615	Standard	NM_014859		Approved	KIAA0672, RICH-2, RICH2	uc002gnr.4	Q17R89	OTTHUMG00000058765	ENST00000379672.5:c.373T>A	chr17.hg19:g.12819314T>A	ENSP00000368994:p.Phe125Ile	65.0	0.0		194.0	25.0	NM_014859	A6NCP5|A8MQB2|O75160|Q7Z5Z7|Q9Y4Q4	Missense_Mutation	SNP	ENST00000379672.5	hg19	CCDS45616.1	.	.	.	.	.	.	.	.	.	.	T	14.88	2.667102	0.47677	.	.	ENSG00000006740	ENST00000379672;ENST00000340825	T;T	0.63096	-0.02;-0.02	5.92	5.92	0.95590	BAR (3);	0.182798	0.49916	D	0.000131	T	0.51398	0.1672	N	0.22421	0.69	0.41260	D	0.986773	P;B	0.38677	0.642;0.409	B;B	0.41135	0.316;0.348	T	0.50668	-0.8801	10	0.25106	T	0.35	.	14.3183	0.66468	0.0:0.0:0.0:1.0	.	125;125	A6NCP5;Q17R89	.;RHG44_HUMAN	I	125	ENSP00000368994:F125I;ENSP00000342566:F125I	ENSP00000342566:F125I	F	+	1	0	ARHGAP44	12760039	1.000000	0.71417	0.997000	0.53966	0.940000	0.58332	5.166000	0.64965	2.274000	0.75844	0.533000	0.62120	TTT	.	.		0.522	ARHGAP44-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441566.1	NM_014859	
KCNJ12	3768	hgsc.bcm.edu	37	17	21319098	21319098	+	Silent	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:21319098G>T	ENST00000583088.1	+	3	1339	c.444G>T	c.(442-444)ctG>ctT	p.L148L	KCNJ12_ENST00000331718.5_Silent_p.L148L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	148					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCTACGGGCTGCGCTGTGTGA	0.637										Prostate(3;0.18)																											p.L148L		Atlas-SNP	.											.	.	.	.	0			c.G444T						.						54.0	52.0	53.0					17																	21319098		2203	4300	6503	SO:0001819	synonymous_variant	100134444	exon3			CGGGCTGCGCTGT	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.444G>T	chr17.hg19:g.21319098G>T		41.0	0.0		148.0	27.0	NM_001194958	O43401|Q15756|Q8NG63	Silent	SNP	ENST00000583088.1	hg19	CCDS11219.1																																																																																			.	.		0.637	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012	
FOXN1	8456	hgsc.bcm.edu	37	17	26851109	26851109	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:26851109G>T	ENST00000226247.2	+	1	151	c.122G>T	c.(121-123)aGt>aTt	p.S41I	FOXN1_ENST00000579795.1_Splice_Site_p.S41I	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	41					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCCCCACAGAGTGTAAGTACC	0.682																																					p.S41I		Atlas-SNP	.											.	FOXN1	51	.	0			c.G122T						.						10.0	10.0	10.0					17																	26851109		2192	4284	6476	SO:0001630	splice_region_variant	8456	exon1			CACAGAGTGTAAG	Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.123+1G>T	chr17.hg19:g.26851109G>T		38.0	0.0		115.0	16.0	NM_003593	B2R9Q7|O15352	Missense_Mutation	SNP	ENST00000226247.2	hg19	CCDS11232.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268947	0.40095	.	.	ENSG00000109101	ENST00000226247	D	0.93133	-3.17	5.03	0.129	0.14739	.	0.431911	0.24229	N	0.040373	D	0.85080	0.5615	N	0.19112	0.55	0.24096	N	0.99589	B	0.29085	0.232	B	0.28709	0.093	T	0.76250	-0.3028	10	0.66056	D	0.02	.	7.9671	0.30104	0.3666:0.0:0.6334:0.0	.	41	O15353	FOXN1_HUMAN	I	41	ENSP00000226247:S41I	ENSP00000226247:S41I	S	+	2	0	FOXN1	23875236	0.037000	0.19845	0.969000	0.41365	0.619000	0.37552	-0.171000	0.09883	-0.133000	0.11537	0.561000	0.74099	AGT	.	.		0.682	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255832.1		Missense_Mutation
PHF12	57649	hgsc.bcm.edu	37	17	27251239	27251239	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:27251239C>A	ENST00000332830.4	-	4	1213	c.403G>T	c.(403-405)Gac>Tac	p.D135Y	RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.D135Y|PHF12_ENST00000268756.3_Missense_Mutation_p.D135Y|RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12											breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			AAGTCAGTGTCACTGCTGGGG	0.537																																					p.D135Y		Atlas-SNP	.											.	PHF12	69	.	0			c.G403T						.						153.0	123.0	133.0					17																	27251239		2203	4300	6503	SO:0001583	missense	57649	exon4			CAGTGTCACTGCT	AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.403G>T	chr17.hg19:g.27251239C>A	ENSP00000329933:p.Asp135Tyr	72.0	0.0		145.0	6.0	NM_020889		Missense_Mutation	SNP	ENST00000332830.4	hg19	CCDS32598.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667068	0.88251	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.94828	-3.5;-3.53;-3.53	5.58	5.58	0.84498	.	0.095435	0.64402	D	0.000001	D	0.95937	0.8677	L	0.44542	1.39	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.976;0.999	D;D;P;D	0.70935	0.936;0.971;0.656;0.936	D	0.96325	0.9239	10	0.72032	D	0.01	-7.893	18.1066	0.89521	0.0:1.0:0.0:0.0	.	117;135;135;135	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	Y	135	ENSP00000329933:D135Y;ENSP00000368157:D135Y;ENSP00000268756:D135Y	ENSP00000268756:D135Y	D	-	1	0	PHF12	24275365	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	2.609000	0.88269	0.655000	0.94253	GAC	.	.		0.537	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255941.1	NM_020889	
TMEM132E	124842	hgsc.bcm.edu	37	17	32956067	32956067	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:32956067C>A	ENST00000321639.5	+	5	1240	c.912C>A	c.(910-912)gaC>gaA	p.D304E		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	304						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		TGCAGCTGGACTTTGAAATGG	0.627																																					p.D304E		Atlas-SNP	.											.	TMEM132E	122	.	0			c.C912A						.						84.0	84.0	84.0					17																	32956067		2203	4300	6503	SO:0001583	missense	124842	exon5			GCTGGACTTTGAA	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.912C>A	chr17.hg19:g.32956067C>A	ENSP00000316532:p.Asp304Glu	55.0	0.0		190.0	9.0	NM_207313	Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	hg19	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	c	10.69	1.420108	0.25552	.	.	ENSG00000181291	ENST00000321639	T	0.21361	2.01	4.51	4.51	0.55191	.	0.097095	0.64402	D	0.000002	T	0.19167	0.0460	L	0.52364	1.645	0.44492	D	0.997435	P	0.41393	0.748	B	0.40101	0.319	T	0.01545	-1.1328	10	0.23302	T	0.38	-35.2459	10.179	0.42957	0.0:0.8974:0.0:0.1026	.	304	Q6IEE7	T132E_HUMAN	E	304	ENSP00000316532:D304E	ENSP00000316532:D304E	D	+	3	2	TMEM132E	29980180	1.000000	0.71417	1.000000	0.80357	0.024000	0.10985	2.339000	0.43965	2.502000	0.84385	0.447000	0.29281	GAC	.	.		0.627	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313	
NLE1	54475	hgsc.bcm.edu	37	17	33469091	33469091	+	Silent	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:33469091A>G	ENST00000442241.4	-	2	108	c.69T>C	c.(67-69)gaT>gaC	p.D23D	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000360831.5_Silent_p.D23D	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	23					hematopoietic stem cell homeostasis (GO:0061484)|inner cell mass cell differentiation (GO:0001826)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:2001268)|negative regulation of mitotic cell cycle (GO:0045930)|Notch signaling pathway (GO:0007219)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|ribosomal large subunit biogenesis (GO:0042273)	nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCCCGCCCTCATCCTGGAACT	0.682																																					p.D23D		Atlas-SNP	.											.	NLE1	42	.	0			c.T69C						.						44.0	34.0	37.0					17																	33469091		2203	4300	6503	SO:0001819	synonymous_variant	54475	exon2			GCCCTCATCCTGG		CCDS11291.1, CCDS45647.1	17q12	2013-01-10		2005-08-09	ENSG00000073536	ENSG00000073536		"""WD repeat domain containing"""	19889	protein-coding gene	gene with protein product	"""Notchless gene homolog, (Drosophila)"""						Standard	XM_005257989		Approved	FLJ10458	uc002hiy.1	Q9NVX2	OTTHUMG00000132928	ENST00000442241.4:c.69T>C	chr17.hg19:g.33469091A>G		36.0	0.0		54.0	16.0	NM_018096	O60868|Q59GJ8|Q9BU54	Silent	SNP	ENST00000442241.4	hg19	CCDS11291.1																																																																																			.	.		0.682	NLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256441.2	NM_018096	
KRTAP3-3	85293	hgsc.bcm.edu	37	17	39150290	39150290	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:39150290G>T	ENST00000391586.1	-	1	95	c.60C>A	c.(58-60)tgC>tgA	p.C20*		NM_033185.2	NP_149441.1	Q9BYR6	KRA33_HUMAN	keratin associated protein 3-3	20	3 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			lung(2)|prostate(2)	4		Breast(137;0.00043)				TGTCAGAGGAGCAGATGGTGG	0.567																																					p.C20X		Atlas-SNP	.											.	KRTAP3-3	11	.	0			c.C60A						.						93.0	92.0	92.0					17																	39150290		2203	4296	6499	SO:0001587	stop_gained	85293	exon1			AGAGGAGCAGATG	AJ406933	CCDS32643.1	17q21.2	2013-06-25			ENSG00000212899	ENSG00000212899		"""Keratin associated proteins"""	18890	protein-coding gene	gene with protein product						11279113	Standard	NM_033185		Approved	KAP3.3	uc002hvr.1	Q9BYR6	OTTHUMG00000133591	ENST00000391586.1:c.60C>A	chr17.hg19:g.39150290G>T	ENSP00000375428:p.Cys20*	50.0	0.0		183.0	9.0	NM_033185	Q52LP0|Q6NTD4	Nonsense_Mutation	SNP	ENST00000391586.1	hg19	CCDS32643.1	.	.	.	.	.	.	.	.	.	.	G	15.86	2.957773	0.53400	.	.	ENSG00000212899	ENST00000391586	.	.	.	5.62	4.65	0.58169	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.41	0.44287	0.0894:0.0:0.9106:0.0	.	.	.	.	X	20	.	ENSP00000375428:C20X	C	-	3	2	KRTAP3-3	36403816	1.000000	0.71417	0.998000	0.56505	0.210000	0.24377	2.963000	0.49184	1.380000	0.46344	0.650000	0.86243	TGC	.	.		0.567	KRTAP3-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257695.1		
ATP6V0A1	535	hgsc.bcm.edu	37	17	40652840	40652840	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:40652840G>T	ENST00000343619.4	+	16	1918	c.1795G>T	c.(1795-1797)Gct>Tct	p.A599S	ATP6V0A1_ENST00000393829.2_Missense_Mutation_p.A599S|ATP6V0A1_ENST00000537728.1_Missense_Mutation_p.A556S|ATP6V0A1_ENST00000544137.1_Missense_Mutation_p.A245S|ATP6V0A1_ENST00000546249.1_Missense_Mutation_p.A599S|ATP6V0A1_ENST00000264649.6_Missense_Mutation_p.A606S|ATP6V0A1_ENST00000585525.1_Missense_Mutation_p.A556S	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1	599					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGCCTATGATGCTCATACCTC	0.378																																					p.A606S		Atlas-SNP	.											.	ATP6V0A1	67	.	0			c.G1816T						.						215.0	195.0	202.0					17																	40652840		2203	4300	6503	SO:0001583	missense	535	exon16			TATGATGCTCATA	U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.1795G>T	chr17.hg19:g.40652840G>T	ENSP00000342951:p.Ala599Ser	177.0	0.0		655.0	63.0	NM_001130020	B7Z3B7|Q8N5G7|Q9NSX0	Missense_Mutation	SNP	ENST00000343619.4	hg19	CCDS45684.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083018	0.76642	.	.	ENSG00000033627	ENST00000343619;ENST00000546249;ENST00000393829;ENST00000264649;ENST00000537728;ENST00000544137	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	4.91	4.91	0.64330	.	0.147766	0.64402	D	0.000010	D	0.90031	0.6887	L	0.60455	1.87	0.80722	D	1	B;B;B;P;B	0.46512	0.086;0.004;0.078;0.879;0.052	B;B;B;P;B	0.52823	0.156;0.02;0.063;0.71;0.056	D	0.89406	0.3699	10	0.44086	T	0.13	-9.9702	18.6406	0.91394	0.0:0.0:1.0:0.0	.	556;556;606;599;599	B7Z641;B7Z2A9;B7Z3B7;Q93050;Q93050-1	.;.;.;VPP1_HUMAN;.	S	599;599;599;606;556;245	ENSP00000342951:A599S;ENSP00000444676:A599S;ENSP00000377415:A599S;ENSP00000264649:A606S;ENSP00000443991:A556S;ENSP00000446377:A245S	ENSP00000264649:A606S	A	+	1	0	ATP6V0A1	37906366	1.000000	0.71417	0.874000	0.34290	0.993000	0.82548	9.601000	0.98297	2.716000	0.92895	0.561000	0.74099	GCT	.	.		0.378	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450364.1	NM_001130020	
WNK4	65266	hgsc.bcm.edu	37	17	40946819	40946819	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:40946819C>G	ENST00000246914.5	+	14	2401	c.2380C>G	c.(2380-2382)Cac>Gac	p.H794D		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	794					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTCCCTGGAGCACAGGAGCTG	0.587																																					p.H794D	Esophageal Squamous(6;201 374 4964 23855 42828)	Atlas-SNP	.											.	WNK4	182	.	0			c.C2380G						.						123.0	94.0	104.0					17																	40946819		2203	4300	6503	SO:0001583	missense	65266	exon14			CTGGAGCACAGGA	AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.2380C>G	chr17.hg19:g.40946819C>G	ENSP00000246914:p.His794Asp	89.0	0.0		155.0	51.0	NM_032387	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Missense_Mutation	SNP	ENST00000246914.5	hg19	CCDS11439.1	.	.	.	.	.	.	.	.	.	.	C	0.224	-1.026490	0.02045	.	.	ENSG00000126562	ENST00000246914;ENST00000316085	T	0.70869	-0.52	5.15	5.15	0.70609	.	0.286819	0.25161	N	0.032664	T	0.46171	0.1379	N	0.08118	0	0.26263	N	0.978546	B;B;B	0.16396	0.017;0.01;0.004	B;B;B	0.11329	0.006;0.003;0.003	T	0.21042	-1.0257	10	0.12430	T	0.62	-6.8088	9.8456	0.41026	0.0:0.9086:0.0:0.0914	.	794;794;794	Q96J92-3;B0LPI0;Q96J92	.;.;WNK4_HUMAN	D	794;566	ENSP00000246914:H794D	ENSP00000246914:H794D	H	+	1	0	WNK4	38200345	0.815000	0.29118	1.000000	0.80357	0.397000	0.30659	1.617000	0.36943	2.837000	0.97791	0.591000	0.81541	CAC	.	.		0.587	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452389.1		
CNTD1	124817	hgsc.bcm.edu	37	17	40961398	40961398	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:40961398C>A	ENST00000588408.1	+	7	1114	c.838C>A	c.(838-840)Cag>Aag	p.Q280K	CNTD1_ENST00000588527.1_Missense_Mutation_p.Q197K|CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	280										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGGGCATTTGCAGAGCATCAC	0.438																																					p.Q280K		Atlas-SNP	.											.	CNTD1	22	.	0			c.C838A						.						135.0	128.0	130.0					17																	40961398		2203	4300	6503	SO:0001583	missense	124817	exon7			CATTTGCAGAGCA	AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.838C>A	chr17.hg19:g.40961398C>A	ENSP00000465204:p.Gln280Lys	77.0	0.0		188.0	11.0	NM_173478	Q658Q6|Q8NEP1	Missense_Mutation	SNP	ENST00000588408.1	hg19	CCDS11440.1	.	.	.	.	.	.	.	.	.	.	C	5.742	0.321308	0.10845	.	.	ENSG00000176563	ENST00000315066	.	.	.	6.03	6.03	0.97812	.	0.192857	0.56097	D	0.000034	T	0.37679	0.1012	L	0.36672	1.1	0.32552	N	0.532304	B	0.23937	0.094	B	0.19666	0.026	T	0.35525	-0.9785	9	0.02654	T	1	-7.9759	12.2136	0.54394	0.132:0.7405:0.1275:0.0	.	280	Q8N815	CNTD1_HUMAN	K	280	.	ENSP00000316647:Q280K	Q	+	1	0	CNTD1	38214924	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.324000	0.43831	2.868000	0.98415	0.555000	0.69702	CAG	.	.		0.438	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452398.1	NM_173478	
CCDC43	124808	hgsc.bcm.edu	37	17	42756228	42756228	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:42756228C>G	ENST00000315286.8	-	5	679	c.671G>C	c.(670-672)cGa>cCa	p.R224P	CCDC43_ENST00000457422.2_3'UTR|C17orf104_ENST00000588805.1_Intron|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000588210.1_Missense_Mutation_p.R227P	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	224										lung(2)	2		Prostate(33;0.0322)				CCAAGGTTATCGCTTTCGCTC	0.453																																					p.R224P		Atlas-SNP	.											.	CCDC43	34	.	0			c.G671C						.						78.0	81.0	80.0					17																	42756228		1914	4123	6037	SO:0001583	missense	124808	exon5			GGTTATCGCTTTC	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.671G>C	chr17.hg19:g.42756228C>G	ENSP00000323782:p.Arg224Pro	155.0	0.0		287.0	18.0	NM_144609	C9JVK9	Missense_Mutation	SNP	ENST00000315286.8	hg19	CCDS45704.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058141	0.76074	.	.	ENSG00000180329	ENST00000315286	.	.	.	6.16	6.16	0.99307	.	0.120163	0.56097	D	0.000024	T	0.79499	0.4456	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79215	-0.1895	9	0.87932	D	0	.	19.6313	0.95704	0.0:1.0:0.0:0.0	.	224	Q96MW1	CCD43_HUMAN	P	224	.	ENSP00000323782:R224P	R	-	2	0	CCDC43	40111754	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	6.802000	0.75175	2.937000	0.99478	0.650000	0.86243	CGA	.	.		0.453	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609	
GJC1	10052	hgsc.bcm.edu	37	17	42883077	42883077	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:42883077C>G	ENST00000426548.1	-	3	378	c.109G>C	c.(109-111)Gct>Cct	p.A37P	GJC1_ENST00000592524.1_Missense_Mutation_p.A37P|GJC1_ENST00000330514.4_Missense_Mutation_p.A37P|GJC1_ENST00000590758.1_Missense_Mutation_p.A37P	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	37					atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle tissue development (GO:0048738)|cell development (GO:0048468)|cell-cell junction assembly (GO:0007043)|gap junction assembly (GO:0016264)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vasculogenesis (GO:0001570)|visual perception (GO:0007601)	connexon complex (GO:0005922)|endoplasmic reticulum membrane (GO:0005789)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	gap junction channel activity (GO:0005243)|ion channel activity (GO:0005216)			NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCTCCTACAGCTGTAAGGACG	0.483																																					p.A37P		Atlas-SNP	.											.	GJC1	45	.	0			c.G109C						.						108.0	89.0	95.0					17																	42883077		2203	4300	6503	SO:0001583	missense	10052	exon3			CTACAGCTGTAAG	U03493	CCDS11487.1	17q21.31	2008-02-04	2007-11-06	2007-11-06		ENSG00000182963		"""Ion channels / Gap junction proteins (connexins)"""	4280	protein-coding gene	gene with protein product	"""connexin 45"""	608655	"""gap junction protein, alpha 7, 45kDa"""	GJA7		7966354	Standard	NM_005497		Approved	CX45	uc002ihl.3	P36383		ENST00000426548.1:c.109G>C	chr17.hg19:g.42883077C>G	ENSP00000411528:p.Ala37Pro	62.0	0.0		223.0	20.0	NM_005497	B3KW68|Q4VAY0	Missense_Mutation	SNP	ENST00000426548.1	hg19	CCDS11487.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230285	0.79688	.	.	ENSG00000182963	ENST00000426548;ENST00000330514	D;D	0.99194	-5.54;-5.54	5.26	5.26	0.73747	Connexin, N-terminal (1);	0.056597	0.64402	D	0.000001	D	0.99299	0.9755	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99357	1.0916	10	0.66056	D	0.02	.	17.8787	0.88833	0.0:1.0:0.0:0.0	.	37	P36383	CXG1_HUMAN	P	37	ENSP00000411528:A37P;ENSP00000333193:A37P	ENSP00000333193:A37P	A	-	1	0	GJC1	40238603	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	7.818000	0.86416	2.458000	0.83093	0.455000	0.32223	GCT	.	.		0.483	GJC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448661.1	NM_005497	
NFE2L1	4779	hgsc.bcm.edu	37	17	46136906	46136906	+	Missense_Mutation	SNP	A	A	T	rs141070896		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:46136906A>T	ENST00000362042.3	+	6	2838	c.2222A>T	c.(2221-2223)cAg>cTg	p.Q741L	NFE2L1_ENST00000583378.1_Missense_Mutation_p.Q542L|NFE2L1_ENST00000582155.1_Missense_Mutation_p.Q553L|NFE2L1_ENST00000585291.1_Missense_Mutation_p.Q711L|NFE2L1_ENST00000361665.3_Missense_Mutation_p.Q730L|RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000357480.5_Missense_Mutation_p.Q711L|NFE2L1_ENST00000536222.1_Missense_Mutation_p.Q585L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	741					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TATGCGCTCCAGTACGCCGGG	0.642																																					p.Q741L		Atlas-SNP	.											.	NFE2L1	60	.	0			c.A2222T						.						65.0	68.0	67.0					17																	46136906		2203	4300	6503	SO:0001583	missense	4779	exon6			CGCTCCAGTACGC	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2222A>T	chr17.hg19:g.46136906A>T	ENSP00000354855:p.Gln741Leu	21.0	0.0		62.0	7.0	NM_003204	D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	hg19	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.276019	0.80580	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480;ENST00000536222	T;T	0.28454	1.91;1.61	5.89	5.89	0.94794	.	0.101984	0.64402	D	0.000001	T	0.49474	0.1559	M	0.71206	2.165	0.80722	D	1	D;D;P;D	0.56521	0.976;0.958;0.949;0.973	P;P;P;P	0.55785	0.784;0.613;0.6;0.711	T	0.53121	-0.8483	10	0.87932	D	0	-32.454	15.2935	0.73885	1.0:0.0:0.0:0.0	.	585;553;711;741	F5H1B7;B4DYE1;Q14494-2;Q14494	.;.;.;NF2L1_HUMAN	L	760;741;711;585	ENSP00000350072:Q711L;ENSP00000445811:Q585L	ENSP00000350072:Q711L	Q	+	2	0	NFE2L1	43491905	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	9.249000	0.95470	2.257000	0.74773	0.460000	0.39030	CAG	.	A|1.000;G|0.000		0.642	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204	
DLX4	1748	hgsc.bcm.edu	37	17	48046980	48046980	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:48046980C>T	ENST00000240306.3	+	1	443	c.148C>T	c.(148-150)Ccg>Tcg	p.P50S	DLX4_ENST00000505318.2_Missense_Mutation_p.P50S|DLX4_ENST00000503410.1_3'UTR	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	50				MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). {ECO:0000305}.	multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTACTCCAGGCCGTATGGCCA	0.652																																					p.P50S		Atlas-SNP	.											DLX4,caecum,carcinoma,0,1	DLX4	25	.	0			c.C148T						.						99.0	100.0	100.0					17																	48046980		2203	4300	6503	SO:0001583	missense	1748	exon1			TCCAGGCCGTATG		CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.148C>T	chr17.hg19:g.48046980C>T	ENSP00000240306:p.Pro50Ser	12.0	0.0		61.0	7.0	NM_138281	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Missense_Mutation	SNP	ENST00000240306.3	hg19	CCDS11555.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.660455	0.29515	.	.	ENSG00000108813	ENST00000240306	D	0.91351	-2.83	3.88	0.596	0.17496	.	.	.	.	.	T	0.75027	0.3794	N	0.14661	0.345	0.09310	N	0.999997	B	0.09022	0.002	B	0.04013	0.001	T	0.61098	-0.7131	9	0.02654	T	1	-0.3069	3.3909	0.07289	0.2023:0.5656:0.0:0.2321	.	50	Q92988	DLX4_HUMAN	S	50	ENSP00000240306:P50S	ENSP00000240306:P50S	P	+	1	0	DLX4	45401979	0.007000	0.16637	0.006000	0.13384	0.898000	0.52572	1.018000	0.30002	0.304000	0.22809	0.313000	0.20887	CCG	.	.		0.652	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366214.1		
SGCA	6442	hgsc.bcm.edu	37	17	48244792	48244792	+	Missense_Mutation	SNP	G	G	T	rs371675217		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:48244792G>T	ENST00000262018.3	+	2	137	c.101G>T	c.(100-102)cGt>cTt	p.R34L	SGCA_ENST00000344627.6_Missense_Mutation_p.R34L|SGCA_ENST00000543315.1_Missense_Mutation_p.R34L|SGCA_ENST00000513942.1_Intron|RP11-893F2.14_ENST00000572855.1_RNA|SGCA_ENST00000451235.2_5'UTR	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	34			R -> C (in LGMD2D). {ECO:0000269|PubMed:9192266}.|R -> H (in LGMD2D). {ECO:0000269|PubMed:7663524}.		muscle contraction (GO:0006936)|muscle organ development (GO:0007517)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CTTGTGGGCCGTGTCTTTGTG	0.642																																					p.R34L		Atlas-SNP	.											SGCA,colon,carcinoma,0,1	SGCA	35	.	0			c.G101T	GRCh37	CM951149	SGCA	M		.						104.0	87.0	92.0					17																	48244792		2203	4300	6503	SO:0001583	missense	6442	exon2			TGGGCCGTGTCTT	L34355	CCDS32679.1, CCDS45729.1	17q21	2014-09-17	2002-08-29		ENSG00000108823	ENSG00000108823			10805	protein-coding gene	gene with protein product	"""50kD DAG"", ""Sarcoglycan, alpha (50kD dystrophin-associated glycoprotein; adhalin)"", ""adhalin (limb girdle muscular dystrophy 2D)"""	600119	"""sarcoglycan, alpha (50kD dystrophin-associated glycoprotein)"""	ADL		7937874	Standard	NM_000023		Approved	SCARMD1, LGMD2D, adhalin, DMDA2, A2	uc002iqi.3	Q16586	OTTHUMG00000162024	ENST00000262018.3:c.101G>T	chr17.hg19:g.48244792G>T	ENSP00000262018:p.Arg34Leu	65.0	0.0		170.0	8.0	NM_001135697	A6NEB8|A8K3K7|Q13710|Q13712	Missense_Mutation	SNP	ENST00000262018.3	hg19	CCDS32679.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.857415	0.51376	.	.	ENSG00000108823	ENST00000344627;ENST00000262018;ENST00000543315	D;D;D	0.98531	-4.98;-4.98;-4.98	4.47	4.47	0.54385	Dystroglycan-type cadherin-like (1);Cadherin-like (1);	0.144240	0.43579	D	0.000544	D	0.95990	0.8694	L	0.46157	1.445	0.80722	D	1	B;B	0.28636	0.218;0.004	B;B	0.26864	0.074;0.007	D	0.95008	0.8149	10	0.42905	T	0.14	-15.278	12.9801	0.58559	0.0:0.0:1.0:0.0	.	34;34	Q16586-2;Q16586	.;SGCA_HUMAN	L	34	ENSP00000345522:R34L;ENSP00000262018:R34L;ENSP00000444539:R34L	ENSP00000262018:R34L	R	+	2	0	SGCA	45599791	0.584000	0.26766	0.960000	0.40013	0.753000	0.42808	2.894000	0.48640	2.184000	0.69523	0.407000	0.27541	CGT	.	.		0.642	SGCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366841.1	NM_000023	
EPN3	55040	hgsc.bcm.edu	37	17	48614425	48614425	+	Missense_Mutation	SNP	C	C	T	rs146173668	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:48614425C>T	ENST00000268933.3	+	2	1087	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	EPN3_ENST00000537145.1_Missense_Mutation_p.R225C|EPN3_ENST00000541226.1_Missense_Mutation_p.R114C|RP11-94C24.8_ENST00000513017.1_RNA	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	170						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GGGCTTCAGCCGCCGCTACGG	0.682													C|||	4	0.000798722	0.0015	0.0	5008	,	,		15206	0.0		0.002	False		,,,				2504	0.0				p.R170C		Atlas-SNP	.											.	EPN3	32	.	0			c.C508T						.	C	CYS/ARG	0,4292		0,0,2146	17.0	15.0	16.0		508	5.2	1.0	17	dbSNP_134	16	1,8445		0,1,4222	no	missense	EPN3	NM_017957.2	180	0,1,6368	TT,TC,CC		0.0118,0.0,0.0079	probably-damaging	170/633	48614425	1,12737	2146	4223	6369	SO:0001583	missense	55040	exon2			TTCAGCCGCCGCT	AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.508C>T	chr17.hg19:g.48614425C>T	ENSP00000268933:p.Arg170Cys	12.0	0.0		127.0	22.0	NM_017957	A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Missense_Mutation	SNP	ENST00000268933.3	hg19	CCDS11570.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171748	0.78452	0.0	1.18E-4	ENSG00000049283	ENST00000268933;ENST00000442715;ENST00000537145;ENST00000541226;ENST00000411703	T;T;T	0.50813	2.33;2.22;0.73	5.24	5.24	0.73138	.	0.659654	0.11791	N	0.529152	T	0.68210	0.2976	L	0.58810	1.83	0.48901	D	0.999725	D;D;D	0.89917	1.0;1.0;0.961	D;D;P	0.91635	0.972;0.999;0.586	T	0.64799	-0.6322	10	0.49607	T	0.09	-18.696	18.4459	0.90683	0.0:1.0:0.0:0.0	.	225;225;170	B4DK18;F6QWW5;Q9H201	.;.;EPN3_HUMAN	C	170;225;225;114;170	ENSP00000268933:R170C;ENSP00000439512:R225C;ENSP00000440540:R114C	ENSP00000268933:R170C	R	+	1	0	EPN3	45969424	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	1.620000	0.36976	2.457000	0.83068	0.561000	0.74099	CGC	.	C|1.000;T|0.000		0.682	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367573.1	NM_017957	
CACNA1G	8913	hgsc.bcm.edu	37	17	48695290	48695290	+	Splice_Site	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:48695290G>A	ENST00000359106.5	+	30	5226	c.5226G>A	c.(5224-5226)caG>caA	p.Q1742Q	CACNA1G_ENST00000505165.1_Splice_Site_p.Q1742Q|CACNA1G_ENST00000515765.1_Splice_Site_p.Q1731Q|CACNA1G_ENST00000442258.2_Splice_Site_p.Q1701Q|CACNA1G_ENST00000514079.1_Splice_Site_p.Q1749Q|CACNA1G_ENST00000354983.4_Splice_Site_p.Q1708Q|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000513689.2_Splice_Site_p.Q1697Q|CACNA1G_ENST00000512389.1_Splice_Site_p.Q1731Q|CACNA1G_ENST00000507336.1_Splice_Site_p.Q1731Q|CACNA1G_ENST00000510366.1_Splice_Site_p.Q1690Q|CACNA1G_ENST00000510115.1_Splice_Site_p.Q1708Q|CACNA1G_ENST00000358244.5_Splice_Site_p.Q1708Q|CACNA1G_ENST00000515411.1_Splice_Site_p.Q1724Q|CACNA1G_ENST00000502264.1_Splice_Site_p.Q1719Q|CACNA1G_ENST00000513964.1_Splice_Site_p.Q1697Q|CACNA1G_ENST00000503485.1_Splice_Site_p.Q1708Q|CACNA1G_ENST00000352832.5_Splice_Site_p.Q1708Q|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000514717.1_Splice_Site_p.Q1685Q|CACNA1G_ENST00000507510.2_Splice_Site_p.Q1742Q|CACNA1G_ENST00000515165.1_Splice_Site_p.Q1742Q|CACNA1G_ENST00000429973.2_Splice_Site_p.Q1724Q|CACNA1G_ENST00000507896.1_Splice_Site_p.Q1731Q|CACNA1G_ENST00000360761.4_Splice_Site_p.Q1719Q	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1742					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCCTGCCCCAGGTAGCCGGGA	0.637																																					p.Q1749Q		Atlas-SNP	.											.	CACNA1G	659	.	0			c.G5247A						.						38.0	41.0	40.0					17																	48695290		1880	4107	5987	SO:0001630	splice_region_variant	8913	exon30			GCCCCAGGTAGCC	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.5226+1G>A	chr17.hg19:g.48695290G>A		46.0	0.0		120.0	44.0	NM_001256325	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Silent	SNP	ENST00000359106.5	hg19	CCDS45730.1																																																																																			.	.		0.637	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	Silent
SPAG9	9043	hgsc.bcm.edu	37	17	49067132	49067132	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:49067132C>T	ENST00000262013.7	-	21	2927	c.2719G>A	c.(2719-2721)Gac>Aac	p.D907N	SPAG9_ENST00000510283.1_Missense_Mutation_p.D750N|SPAG9_ENST00000505279.1_Missense_Mutation_p.D897N|SPAG9_ENST00000357122.4_Missense_Mutation_p.D893N	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	907					activation of JUN kinase activity (GO:0007257)|muscle cell differentiation (GO:0042692)|negative regulation of protein homodimerization activity (GO:0090074)|positive regulation of cell migration (GO:0030335)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron differentiation (GO:0045666)|protein homooligomerization (GO:0051260)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|striated muscle cell differentiation (GO:0051146)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TGGGAGATGTCCACTGTGTCT	0.468																																					p.D907N		Atlas-SNP	.											.	SPAG9	151	.	0			c.G2719A						.						180.0	146.0	157.0					17																	49067132		2203	4300	6503	SO:0001583	missense	9043	exon21			AGATGTCCACTGT	AB011088	CCDS11577.1, CCDS45740.1, CCDS58577.1, CCDS58578.1	17q21.33	2013-09-23			ENSG00000008294	ENSG00000008294			14524	protein-coding gene	gene with protein product	"""sperm surface protein"", ""JNK/SAPK-associated protein"", ""JNK interacting protein"", ""sperm specific protein"", ""c-Jun NH2-terminal kinase-associated leucine zipper protein"", ""Max-binding protein"", ""JNK-associated leucine-zipper protein"", ""HLC-4 protein"", ""lung cancer oncogene 4"", ""proliferation-inducing gene 6"", ""cancer/testis antigen 89"""	605430				9480848, 11106729	Standard	NM_003971		Approved	HSS, SYD1, KIAA0516, MGC14967, MGC74461, MGC117291, JLP, PHET, HLC4, PIG6, FLJ13450, FLJ14006, FLJ26141, FLJ34602, CT89	uc002itc.3	O60271	OTTHUMG00000162316	ENST00000262013.7:c.2719G>A	chr17.hg19:g.49067132C>T	ENSP00000262013:p.Asp907Asn	139.0	0.0		239.0	95.0	NM_001130528	A6H8U5|A8MSX0|B4DHH2|O60905|Q3KQU8|Q3MKM7|Q86WC7|Q86WC8|Q8IZX7|Q96II0|Q9H811	Missense_Mutation	SNP	ENST00000262013.7	hg19	CCDS45740.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.037756|4.037756	0.75617|0.75617	.|.	.|.	ENSG00000008294|ENSG00000008294	ENST00000262013;ENST00000376407;ENST00000357804;ENST00000357791;ENST00000510283;ENST00000505279;ENST00000357122;ENST00000535445|ENST00000513906	T;T;T;T|.	0.22945|.	1.93;1.93;1.93;1.93|.	5.77|5.77	5.77|5.77	0.91146|0.91146	WD40 repeat-like-containing domain (1);|.	0.142130|.	0.53938|.	D|.	0.000051|.	T|.	0.73321|.	0.3572|.	L|L	0.56769|0.56769	1.78|1.78	0.53688|0.53688	D|D	0.999975|0.999975	D;D;B;B;P;D|.	0.89917|.	1.0;0.964;0.049;0.012;0.58;0.962|.	D;P;B;B;B;P|.	0.91635|.	0.999;0.84;0.021;0.009;0.344;0.528|.	T|.	0.69015|.	-0.5257|.	10|.	0.26408|.	T|.	0.33|.	-19.5081|-19.5081	19.9831|19.9831	0.97336|0.97336	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	893;907;897;907;893;750|.	O60271-5;O60271-3;O60271-2;O60271;O60271-4;E7ENU2|.	.;.;.;JIP4_HUMAN;.;.|.	N|X	907;664;654;444;750;897;893;505|150	ENSP00000262013:D907N;ENSP00000423165:D750N;ENSP00000426900:D897N;ENSP00000349636:D893N|.	ENSP00000262013:D907N|.	D|W	-|-	1|3	0|0	SPAG9|SPAG9	46422131|46422131	0.994000|0.994000	0.37717|0.37717	1.000000|1.000000	0.80357|0.80357	0.834000|0.834000	0.47266|0.47266	4.066000|4.066000	0.57520|0.57520	2.728000|2.728000	0.93425|0.93425	0.650000|0.650000	0.86243|0.86243	GAC|TGG	.	.		0.468	SPAG9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000368543.2	NM_003971	
TOM1L1	10040	hgsc.bcm.edu	37	17	52991114	52991114	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:52991114G>C	ENST00000575882.1	+	5	731	c.378G>C	c.(376-378)tgG>tgC	p.W126C	TOM1L1_ENST00000540336.1_Missense_Mutation_p.W49C|TOM1L1_ENST00000572158.1_Missense_Mutation_p.W119C|TOM1L1_ENST00000575333.1_Missense_Mutation_p.W126C|TOM1L1_ENST00000536554.1_Missense_Mutation_p.W49C|TOM1L1_ENST00000348161.4_Missense_Mutation_p.W49C|TOM1L1_ENST00000572405.1_Missense_Mutation_p.W91C|TOM1L1_ENST00000445275.2_Missense_Mutation_p.W126C|TOM1L1_ENST00000570371.1_Missense_Mutation_p.W126C	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	126	VHS. {ECO:0000255|PROSITE- ProRule:PRU00218}.				activation of protein kinase activity (GO:0032147)|intracellular protein transport (GO:0006886)|negative regulation of mitosis (GO:0045839)|positive regulation of protein autophosphorylation (GO:0031954)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)	clathrin binding (GO:0030276)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|ubiquitin binding (GO:0043130)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TTCAGACTTGGTCACAGGGCT	0.403																																					p.W126C		Atlas-SNP	.											.	TOM1L1	33	.	0			c.G378C						.						99.0	96.0	97.0					17																	52991114		2203	4300	6503	SO:0001583	missense	10040	exon5			GACTTGGTCACAG	AJ010071	CCDS11582.1	17q23.2	2008-01-03	2007-01-12			ENSG00000141198			11983	protein-coding gene	gene with protein product		604701	"""target of myb1 (chicken) homolog-like 1"""			10329004, 15611048, 17977829	Standard	NM_005486		Approved	SRCASM	uc002iud.2	O75674		ENST00000575882.1:c.378G>C	chr17.hg19:g.52991114G>C	ENSP00000460823:p.Trp126Cys	63.0	0.0		132.0	8.0	NM_005486	Q53G06|Q8N749	Missense_Mutation	SNP	ENST00000575882.1	hg19	CCDS11582.1	.	.	.	.	.	.	.	.	.	.	G	15.21	2.765230	0.49574	.	.	ENSG00000141198	ENST00000445275;ENST00000540336;ENST00000348161;ENST00000536554	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.44	4.48	0.54585	VHS subgroup (1);ENTH/VHS (2);VHS (2);	0.000000	0.64402	D	0.000006	T	0.71247	0.3317	M	0.92784	3.345	0.80722	D	1	B;P;P;P;D;P	0.89917	0.44;0.869;0.685;0.869;1.0;0.473	B;P;B;P;D;B	0.97110	0.209;0.621;0.347;0.545;1.0;0.347	T	0.78700	-0.2102	10	0.66056	D	0.02	-6.0111	13.5452	0.61699	0.0:0.0:0.8428:0.1572	.	49;119;49;126;126;49	B4DUW5;B4E1N0;B7Z9E2;O75674;Q8N749;B4E1M9	.;.;.;TM1L1_HUMAN;.;.	C	126;49;49;49	ENSP00000408958:W126C;ENSP00000441242:W49C;ENSP00000343901:W49C;ENSP00000443099:W49C	ENSP00000343901:W49C	W	+	3	0	TOM1L1	50346113	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	4.082000	0.57635	1.305000	0.44909	-0.224000	0.12420	TGG	.	.		0.403	TOM1L1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439029.2	NM_005486	
SMG8	55181	hgsc.bcm.edu	37	17	57288227	57288227	+	Missense_Mutation	SNP	A	A	G	rs548055635		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:57288227A>G	ENST00000543872.2	+	2	1079	c.815A>G	c.(814-816)aAt>aGt	p.N272S	SMG8_ENST00000578922.1_Missense_Mutation_p.N272S|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron|SMG8_ENST00000300917.5_Missense_Mutation_p.N272S			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	272					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						TTTCAACTCAATGGAGCCCTC	0.517													A|||	1	0.000199681	0.0	0.0	5008	,	,		20521	0.0		0.0	False		,,,				2504	0.001				p.N272S		Atlas-SNP	.											.	SMG8	79	.	0			c.A815G						.						72.0	82.0	79.0					17																	57288227		2203	4300	6503	SO:0001583	missense	55181	exon1			AACTCAATGGAGC	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.815A>G	chr17.hg19:g.57288227A>G	ENSP00000438748:p.Asn272Ser	29.0	0.0		120.0	16.0	NM_018149	Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	hg19	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	A	8.343	0.829101	0.16749	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.47528	0.84;0.84	5.46	5.46	0.80206	.	0.122499	0.85682	D	0.000000	T	0.40546	0.1121	L	0.51422	1.61	0.52099	D	0.999947	B	0.33135	0.399	B	0.28916	0.096	T	0.23691	-1.0181	10	0.18276	T	0.48	-24.8098	14.8818	0.70540	1.0:0.0:0.0:0.0	.	272	Q8ND04	SMG8_HUMAN	S	272	ENSP00000300917:N272S;ENSP00000438748:N272S	ENSP00000300917:N272S	N	+	2	0	SMG8	54643009	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.517000	0.81783	2.291000	0.77112	0.533000	0.62120	AAT	.	.		0.517	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149	
RPS6KB1	6198	hgsc.bcm.edu	37	17	58013587	58013587	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:58013587A>T	ENST00000225577.4	+	11	1011	c.990A>T	c.(988-990)agA>agT	p.R330S	RPS6KB1_ENST00000393021.3_Missense_Mutation_p.R277S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.R330S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.R307S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	330	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				aging (GO:0007568)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell development (GO:0007281)|insulin receptor signaling pathway (GO:0008286)|long-term memory (GO:0007616)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of skeletal muscle tissue growth (GO:0048633)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of glucose import (GO:0046324)|response to drug (GO:0042493)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to leucine (GO:0043201)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|response to tumor necrosis factor (GO:0034612)|response to wounding (GO:0009611)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGCTGAAAAGAAATGCTGCTT	0.408																																					p.R330S		Atlas-SNP	.											.	RPS6KB1	43	.	0			c.A990T						.						110.0	110.0	110.0					17																	58013587		2203	4300	6503	SO:0001583	missense	6198	exon11			GAAAAGAAATGCT	M60724	CCDS11621.1, CCDS62271.1, CCDS62272.1, CCDS62273.1	17q23.1	2011-04-05	2002-08-29		ENSG00000108443	ENSG00000108443			10436	protein-coding gene	gene with protein product		608938	"""ribosomal protein S6 kinase, 70kD, polypeptide 1"""	STK14A		1922062	Standard	NM_003161		Approved	S6K1, p70(S6K)-alpha, PS6K	uc002ixy.4	P23443	OTTHUMG00000150642	ENST00000225577.4:c.990A>T	chr17.hg19:g.58013587A>T	ENSP00000225577:p.Arg330Ser	107.0	0.0		201.0	21.0	NM_001272043	B2R779|B4DLT4|B4DTG1|E7ESB8|F6UYM1|Q7Z721	Missense_Mutation	SNP	ENST00000225577.4	hg19	CCDS11621.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716500	0.89205	.	.	ENSG00000108443	ENST00000443572;ENST00000406116;ENST00000225577;ENST00000393021	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.55	3.35	0.38373	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	T	0.62648	0.2445	L	0.33710	1.025	0.80722	D	1	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.78314	0.991;0.978;0.987	T	0.63849	-0.6544	10	0.87932	D	0	.	9.3291	0.38010	0.8551:0.0:0.1449:0.0	.	307;330;330	F6UYM1;Q7Z721;P23443	.;.;KS6B1_HUMAN	S	307;330;330;277	ENSP00000441993:R307S;ENSP00000384335:R330S;ENSP00000225577:R330S;ENSP00000376744:R277S	ENSP00000225577:R330S	R	+	3	2	RPS6KB1	55368369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.090000	0.57693	0.941000	0.37499	0.524000	0.50904	AGA	.	.		0.408	RPS6KB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319324.1	NM_003161	
DDX42	11325	hgsc.bcm.edu	37	17	61890756	61890756	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:61890756G>T	ENST00000578681.1	+	16	2445	c.1844G>T	c.(1843-1845)cGg>cTg	p.R615L	DDX42_ENST00000457800.2_Missense_Mutation_p.R615L|DDX42_ENST00000389924.2_Missense_Mutation_p.R615L|DDX42_ENST00000583590.1_Missense_Mutation_p.R615L|DDX42_ENST00000359353.5_Missense_Mutation_p.R496L	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	615	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				protein localization (GO:0008104)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GACCTGGTCCGGAACTTGGAA	0.522																																					p.R615L		Atlas-SNP	.											.	DDX42	86	.	0			c.G1844T						.						117.0	95.0	102.0					17																	61890756		2203	4300	6503	SO:0001583	missense	11325	exon15			TGGTCCGGAACTT	BC015505	CCDS32704.1	17q23	2014-02-14	2013-05-13			ENSG00000198231		"""DEAD-boxes"""	18676	protein-coding gene	gene with protein product	"""splicing factor 3b, subunit 8"""	613369	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 42"""			10727850, 16397294	Standard	NM_007372		Approved	RNAHP, RHELP, SF3b125, SF3B8	uc002jbv.3	Q86XP3		ENST00000578681.1:c.1844G>T	chr17.hg19:g.61890756G>T	ENSP00000464050:p.Arg615Leu	61.0	0.0		181.0	13.0	NM_203499	A6NML1|A8KA43|O75619|Q68G51|Q96BK1|Q96HR7|Q9Y3V8	Missense_Mutation	SNP	ENST00000578681.1	hg19	CCDS32704.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.793936	0.90453	.	.	ENSG00000198231	ENST00000389924;ENST00000457800;ENST00000359353	T;T	0.23147	1.92;1.92	5.52	5.52	0.82312	Helicase, C-terminal (1);	0.207947	0.46758	D	0.000280	T	0.42675	0.1213	L	0.35341	1.055	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74348	0.983;0.94	T	0.27434	-1.0074	10	0.87932	D	0	-11.7694	18.809	0.92050	0.0:0.0:1.0:0.0	.	161;615	B3KV84;Q86XP3	.;DDX42_HUMAN	L	615;615;332	ENSP00000374574:R615L;ENSP00000390121:R615L	ENSP00000352308:R332L	R	+	2	0	DDX42	59244488	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.841000	0.99482	2.764000	0.94973	0.650000	0.86243	CGG	.	.		0.522	DDX42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444368.1	NM_007372	
PSMC5	5705	hgsc.bcm.edu	37	17	61908431	61908431	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:61908431C>T	ENST00000310144.6	+	8	1023	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	PSMC5_ENST00000581882.1_Missense_Mutation_p.R231W|FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000580864.1_Missense_Mutation_p.R231W|PSMC5_ENST00000375812.4_Missense_Mutation_p.R231W	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	239	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				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 programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|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 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)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGTCATGGCACGGGAACATGC	0.567																																					p.R239W		Atlas-SNP	.											.	PSMC5	41	.	0			c.C715T						.						84.0	81.0	82.0					17																	61908431		2203	4300	6503	SO:0001583	missense	5705	exon8			ATGGCACGGGAAC	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.715C>T	chr17.hg19:g.61908431C>T	ENSP00000310572:p.Arg239Trp	61.0	0.0		140.0	11.0	NM_002805	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Missense_Mutation	SNP	ENST00000310144.6	hg19	CCDS11645.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525518	0.64860	.	.	ENSG00000087191	ENST00000310144;ENST00000375812	D;D	0.93859	-3.3;-3.3	5.64	5.64	0.86602	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97704	0.9247	H	0.94925	3.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98241	1.0488	10	0.87932	D	0	.	17.243	0.87019	0.0:1.0:0.0:0.0	.	231;239	A8K3Z3;P62195	.;PRS8_HUMAN	W	239;231	ENSP00000310572:R239W;ENSP00000364970:R231W	ENSP00000310572:R239W	R	+	1	2	PSMC5	59262163	0.089000	0.21612	0.993000	0.49108	0.817000	0.46193	0.559000	0.23485	2.937000	0.99478	0.650000	0.86243	CGG	.	.		0.567	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805	
CSH1	1442	hgsc.bcm.edu	37	17	61972411	61972411	+	Missense_Mutation	SNP	G	G	T	rs61764004		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:61972411G>T	ENST00000316193.8	-	5	766	c.625C>A	c.(625-627)Cgc>Agc	p.R209S	CSH1_ENST00000453363.3_Missense_Mutation_p.R114S|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P0DML2	CSH1_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	209						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.R209C(1)		central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCACAGAGCGGCACTGCACC	0.607									Russell-Silver syndrome																												p.R209S		Atlas-SNP	.											CSH1,brain,atypical_teratoid-rhabdoid_tumour,0,1	CSH1	18	.	1	Substitution - Missense(1)	central_nervous_system(1)	c.C625A						.						105.0	94.0	98.0					17																	61972411		2198	4299	6497	SO:0001583	missense	1442	exon5	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	CAGAGCGGCACTG	J00118	CCDS11649.1	17q22-q24	2008-07-18				ENSG00000136488			2440	protein-coding gene	gene with protein product	"""chorionic somatomammotropin A"", ""placental lactogen"", ""choriomammotropin"""	150200				6208192	Standard	NM_001317		Approved	hCS-A, CSA, PL, CSMT, FLJ75407	uc002jcs.2	P0DML2		ENST00000316193.8:c.625C>A	chr17.hg19:g.61972411G>T	ENSP00000316416:p.Arg209Ser	77.0	1.0		209.0	9.0	NM_001317	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	ENST00000316193.8	hg19	CCDS11649.1	.	.	.	.	.	.	.	.	.	.	g	10.94	1.491692	0.26774	.	.	ENSG00000136488	ENST00000316193;ENST00000453363	D;D	0.92911	-3.13;-3.13	2.56	1.57	0.23409	.	.	.	.	.	D	0.95319	0.8481	M	0.86651	2.83	0.43114	D	0.994825	D;D	0.71674	0.989;0.998	D;D	0.71414	0.973;0.955	D	0.93904	0.7191	9	0.72032	D	0.01	.	8.4239	0.32718	0.1261:0.0:0.8739:0.0	rs61764004	114;209	B1A4H2;Q6PF11	.;.	S	209;114	ENSP00000316416:R209S;ENSP00000402517:R114S	ENSP00000316416:R209S	R	-	1	0	CSH1	59326143	1.000000	0.71417	0.996000	0.52242	0.012000	0.07955	6.449000	0.73473	0.405000	0.25532	-0.671000	0.03813	CGC	.	G|0.993;T|0.007		0.607	CSH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416040.1	NM_001317	
KIF19	124602	hgsc.bcm.edu	37	17	72344027	72344027	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:72344027A>G	ENST00000389916.4	+	9	1174	c.1036A>G	c.(1036-1038)Att>Gtt	p.I346V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	346	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGCCAAGAACATTAAGACTAG	0.622																																					p.I346V		Atlas-SNP	.											.	KIF19	102	.	0			c.A1036G						.						41.0	35.0	37.0					17																	72344027		2193	4287	6480	SO:0001583	missense	124602	exon9			AAGAACATTAAGA	AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.1036A>G	chr17.hg19:g.72344027A>G	ENSP00000374566:p.Ile346Val	8.0	0.0		67.0	10.0	NM_153209	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	ENST00000389916.4	hg19	CCDS32718.2	.	.	.	.	.	.	.	.	.	.	A	19.62	3.860939	0.71834	.	.	ENSG00000196169	ENST00000551294;ENST00000389916	T;T	0.76968	-1.06;-1.06	5.68	5.68	0.88126	Kinesin, motor domain (3);	.	.	.	.	D	0.87561	0.6208	M	0.76170	2.325	0.58432	D	0.999998	D;D;D;D	0.76494	0.999;0.999;0.994;0.994	D;D;D;D	0.85130	0.99;0.997;0.986;0.986	D	0.88969	0.3399	9	0.87932	D	0	.	14.9658	0.71193	1.0:0.0:0.0:0.0	.	346;304;304;346	Q2TAC6;F8VW50;Q2TAC6-3;Q2TAC6-2	KIF19_HUMAN;.;.;.	V	304;346	ENSP00000449134:I304V;ENSP00000374566:I346V	ENSP00000374566:I346V	I	+	1	0	KIF19	69855622	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	8.934000	0.92915	2.184000	0.69523	0.454000	0.30748	ATT	.	.		0.622	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319644.2	NM_153209	
CDR2L	30850	hgsc.bcm.edu	37	17	72998268	72998268	+	Missense_Mutation	SNP	C	C	T	rs529209429		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:72998268C>T	ENST00000337231.5	+	4	863	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_014603.2	NP_055418.2	Q86X02	CDR2L_HUMAN	cerebellar degeneration-related protein 2-like	151												all_lung(278;0.226)					GAAGCGGGAACGCAGGCGTAC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		17825	0.0		0.001	False		,,,				2504	0.0				p.R151C		Atlas-SNP	.											HUMPPA,NS,carcinoma,0,1	.	.	.	0			c.C451T						.						67.0	49.0	56.0					17																	72998268		2203	4299	6502	SO:0001583	missense	30850	exon4			CGGGAACGCAGGC		CCDS11710.2	17q25.1	2006-03-28			ENSG00000109089	ENSG00000109089			29999	protein-coding gene	gene with protein product	"""paraneoplastic antigen"""						Standard	NM_014603		Approved	HUMPPA	uc002jml.4	Q86X02	OTTHUMG00000150435	ENST00000337231.5:c.451C>T	chr17.hg19:g.72998268C>T	ENSP00000336587:p.Arg151Cys	18.0	0.0		77.0	7.0	NM_014603	B4DFA7|Q15175	Missense_Mutation	SNP	ENST00000337231.5	hg19	CCDS11710.2	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448746	0.84101	.	.	ENSG00000109089	ENST00000337231	T	0.50813	0.73	5.22	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.67970	0.2950	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71938	-0.4441	10	0.72032	D	0.01	-24.4178	13.7862	0.63110	0.2953:0.7047:0.0:0.0	.	151	Q86X02	CDR2L_HUMAN	C	151	ENSP00000336587:R151C	ENSP00000336587:R151C	R	+	1	0	CDR2L	70509863	0.949000	0.32298	0.984000	0.44739	0.996000	0.88848	1.774000	0.38573	2.609000	0.88269	0.563000	0.77884	CGC	.	.		0.642	CDR2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318080.1	NM_014603	
WBP2	23558	hgsc.bcm.edu	37	17	73851333	73851333	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:73851333T>C	ENST00000591399.1	-	2	470	c.46A>G	c.(46-48)Aat>Gat	p.N16D	WBP2_ENST00000585462.1_5'UTR|WBP2_ENST00000433525.2_Missense_Mutation_p.N16D|WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000590221.1_Missense_Mutation_p.N16D|WBP2_ENST00000254806.3_Missense_Mutation_p.N16D|WBP2_ENST00000344296.4_5'UTR			Q969T9	WBP2_HUMAN	WW domain binding protein 2	16	GRAM.				cellular response to estrogen stimulus (GO:0071391)|establishment of protein localization (GO:0045184)|positive regulation of gene expression, epigenetic (GO:0045815)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nuclear chromatin (GO:0000790)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription coactivator activity (GO:0001105)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGGTGTTATTGACGATCACT	0.577																																					p.N16D		Atlas-SNP	.											.	WBP2	17	.	0			c.A46G						.						170.0	171.0	170.0					17																	73851333		2203	4300	6503	SO:0001583	missense	23558	exon1			TGTTATTGACGAT	U79458	CCDS11731.1	17q25	2008-02-01				ENSG00000132471			12738	protein-coding gene	gene with protein product		606962				7644498	Standard	NM_012478		Approved	WBP-2	uc002jps.3	Q969T9		ENST00000591399.1:c.46A>G	chr17.hg19:g.73851333T>C	ENSP00000467579:p.Asn16Asp	98.0	0.0		222.0	51.0	NM_012478	O95638	Missense_Mutation	SNP	ENST00000591399.1	hg19	CCDS11731.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.847164	0.91277	.	.	ENSG00000132471	ENST00000254806;ENST00000433525;ENST00000431190;ENST00000416574	D;D	0.88354	-2.37;-2.37	4.21	4.21	0.49690	GRAM (1);	0.117941	0.64402	D	0.000001	D	0.92364	0.7577	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.76494	0.988;0.999;0.998;0.998	P;D;D;D	0.71414	0.825;0.973;0.963;0.963	D	0.91452	0.5182	10	0.35671	T	0.21	-19.4032	13.7292	0.62776	0.0:0.0:0.0:1.0	.	16;16;16;16	B4DV07;B4DFG2;Q7Z511;Q969T9	.;.;.;WBP2_HUMAN	D	16	ENSP00000254806:N16D;ENSP00000415251:N16D	ENSP00000254806:N16D	N	-	1	0	WBP2	71362928	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.631000	0.54280	1.891000	0.54761	0.460000	0.39030	AAT	.	.		0.577	WBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448862.1	NM_012478	
FBF1	85302	hgsc.bcm.edu	37	17	73916170	73916170	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:73916170C>G	ENST00000586717.1	-	18	2080	c.1807G>C	c.(1807-1809)Gaa>Caa	p.E603Q	FBF1_ENST00000319129.5_Missense_Mutation_p.E602Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E603Q			Q8TES7	FBF1_HUMAN	Fas (TNFRSF6) binding factor 1	603					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGGGCCCGTTCTAGCTCCAGC	0.662																																					p.E602Q		Atlas-SNP	.											.	FBF1	48	.	0			c.G1804C						.						17.0	20.0	19.0					17																	73916170		2025	4177	6202	SO:0001583	missense	85302	exon18			CCCGTTCTAGCTC	AK074045	CCDS45779.1	17q25.3	2011-04-21			ENSG00000188878	ENSG00000188878			24674	protein-coding gene	gene with protein product	"""albatross"""					11347906	Standard	NM_001080542		Approved	FLJ00103, FBF-1, KIAA1863, ALB	uc002jqc.3	Q8TES7		ENST00000586717.1:c.1807G>C	chr17.hg19:g.73916170C>G	ENSP00000465132:p.Glu603Gln	45.0	0.0		107.0	45.0	NM_001080542	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	ENST00000586717.1	hg19		.	.	.	.	.	.	.	.	.	.	C	27.4	4.828670	0.90955	.	.	ENSG00000188878	ENST00000337792;ENST00000389570;ENST00000319129;ENST00000427433	T;T	0.32023	1.47;1.47	5.15	5.15	0.70609	.	.	.	.	.	T	0.57519	0.2059	M	0.74258	2.255	0.52501	D	0.999956	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.988;0.999;0.998	T	0.58819	-0.7569	9	0.48119	T	0.1	-30.2077	18.2267	0.89920	0.0:1.0:0.0:0.0	.	617;603;602	Q8TES7-6;Q8TES7;A6NLR5	.;FBF1_HUMAN;.	Q	603;603;602;616	ENSP00000374221:E603Q;ENSP00000324292:E602Q	ENSP00000324292:E602Q	E	-	1	0	FBF1	71427765	1.000000	0.71417	0.980000	0.43619	0.952000	0.60782	6.645000	0.74343	2.409000	0.81822	0.655000	0.94253	GAA	.	.		0.662	FBF1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000448945.2	NM_001080542	
SPHK1	8877	hgsc.bcm.edu	37	17	74383503	74383503	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:74383503C>G	ENST00000545180.1	+	8	1800	c.991C>G	c.(991-993)Ccc>Gcc	p.P331A	SPHK1_ENST00000392496.3_Missense_Mutation_p.P331A|SPHK1_ENST00000592299.1_Missense_Mutation_p.P331A|SPHK1_ENST00000590959.1_Missense_Mutation_p.P345A|SPHK1_ENST00000323374.4_Missense_Mutation_p.P417A			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	331					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	CCGCTTGGAGCCCAAGGATGG	0.577																																					p.P417A	GBM(90;966 1307 27369 33775 44498)	Atlas-SNP	.											.	SPHK1	24	.	0			c.C1249G						.						78.0	78.0	78.0					17																	74383503		2202	4300	6502	SO:0001583	missense	8877	exon6			TTGGAGCCCAAGG	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.991C>G	chr17.hg19:g.74383503C>G	ENSP00000440970:p.Pro331Ala	45.0	0.0		122.0	15.0	NM_182965	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Missense_Mutation	SNP	ENST00000545180.1	hg19	CCDS45785.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.814537	0.50527	.	.	ENSG00000176170	ENST00000545180;ENST00000323374;ENST00000392496;ENST00000543830	T;T;T	0.13538	2.58;2.58;2.58	5.08	4.11	0.48088	.	2.948360	0.02167	N	0.059323	T	0.47507	0.1449	M	0.85462	2.755	0.52501	D	0.999959	D;D;D	0.67145	0.993;0.987;0.996	P;P;D	0.70716	0.899;0.844;0.97	T	0.00468	-1.1721	10	0.72032	D	0.01	-12.5451	13.3258	0.60459	0.0:0.9235:0.0:0.0765	.	417;345;331	Q9NYA1-2;Q96GK1;Q9NYA1	.;.;SPHK1_HUMAN	A	331;417;331;330	ENSP00000440970:P331A;ENSP00000313681:P417A;ENSP00000376285:P331A	ENSP00000313681:P417A	P	+	1	0	SPHK1	71895098	1.000000	0.71417	0.865000	0.33974	0.086000	0.17979	5.617000	0.67716	1.135000	0.42183	0.456000	0.33151	CCC	.	.		0.577	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972	
ENGASE	64772	hgsc.bcm.edu	37	17	77077980	77077980	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:77077980G>T	ENST00000579016.1	+	7	873	c.873G>T	c.(871-873)agG>agT	p.R291S	ENGASE_ENST00000539857.2_Splice_Site_p.R105S	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	291	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.					cytoplasm (GO:0005737)	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity (GO:0033925)			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TGCTTCTCAGGGTCTTCTTTG	0.607																																					p.R291S		Atlas-SNP	.											.	ENGASE	55	.	0			c.G873T						.						95.0	105.0	102.0					17																	77077980		1951	4141	6092	SO:0001630	splice_region_variant	64772	exon7			TCTCAGGGTCTTC	AF512564	CCDS42394.1	17q25.3	2009-03-03			ENSG00000167280	ENSG00000167280	3.2.1.96		24622	protein-coding gene	gene with protein product	"""Mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase"", ""Di-N-acetylchitobiosyl beta-N-acetylglucosaminidase"""	611898				12114544, 18586680	Standard	NM_001042573		Approved	FLJ21865	uc002jwv.4	Q8NFI3	OTTHUMG00000167714	ENST00000579016.1:c.873-1G>T	chr17.hg19:g.77077980G>T		51.0	0.0		125.0	11.0	NM_001042573	Q659F0|Q8TB86|Q9H6U4	Missense_Mutation	SNP	ENST00000579016.1	hg19	CCDS42394.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.634643	0.47049	.	.	ENSG00000167280	ENST00000311595;ENST00000545583	.	.	.	4.34	1.27	0.21489	Glycoside hydrolase, family 85 (1);	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	M	0.73217	2.22	0.49687	D	0.999815	P;P;B	0.49185	0.92;0.722;0.067	P;B;B	0.47603	0.551;0.338;0.064	T	0.55095	-0.8194	8	.	.	.	.	8.401	0.32586	0.3253:0.0:0.6747:0.0	.	105;291;291	B4DVK0;Q8NFI3;Q8NFI3-3	.;ENASE_HUMAN;.	S	291	.	.	R	+	3	2	ENGASE	74589575	1.000000	0.71417	0.991000	0.47740	0.475000	0.33008	1.833000	0.39161	0.140000	0.18849	0.313000	0.20887	AGG	.	.		0.607	ENGASE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395807.1	NM_022759	Missense_Mutation
GAA	2548	hgsc.bcm.edu	37	17	78091993	78091993	+	Splice_Site	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:78091993G>T	ENST00000302262.3	+	18	2702	c.2483G>T	c.(2482-2484)gGc>gTc	p.G828V	GAA_ENST00000390015.3_Splice_Site_p.G828V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	828					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	CCTTTCCAGGGCCCTGGCCTC	0.667																																					p.G828V		Atlas-SNP	.											.	GAA	66	.	0			c.G2483T						.						44.0	46.0	45.0					17																	78091993		2203	4300	6503	SO:0001630	splice_region_variant	2548	exon19			TCCAGGGCCCTGG		CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.2482-1G>T	chr17.hg19:g.78091993G>T		34.0	0.0		107.0	19.0	NM_001079803	Q09GN4|Q14351|Q16302|Q8IWE7	Missense_Mutation	SNP	ENST00000302262.3	hg19	CCDS32760.1	.	.	.	.	.	.	.	.	.	.	G	9.396	1.076732	0.20227	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	D;D	0.89810	-2.57;-2.57	5.51	1.96	0.26148	.	0.464777	0.24020	N	0.042294	T	0.78635	0.4314	L	0.37850	1.14	0.58432	D	0.999996	B	0.09022	0.002	B	0.09377	0.004	T	0.69888	-0.5023	10	0.34782	T	0.22	-33.8352	2.0092	0.03484	0.1276:0.3792:0.2986:0.1945	.	828	P10253	LYAG_HUMAN	V	828	ENSP00000305692:G828V;ENSP00000374665:G828V	ENSP00000305692:G828V	G	+	2	0	GAA	75706588	0.950000	0.32346	0.985000	0.45067	0.615000	0.37417	1.871000	0.39539	1.267000	0.44247	0.655000	0.94253	GGC	.	.		0.667	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437441.1		Missense_Mutation
CCDC57	284001	hgsc.bcm.edu	37	17	80115731	80115731	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:80115731G>A	ENST00000389641.4	-	14	2170	c.2134C>T	c.(2134-2136)Cag>Tag	p.Q712*	RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.Q712*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.Q712*|CCDC57_ENST00000327026.3_5'UTR			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	712										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCAGCCACCTGCTTCCGCAGC	0.682																																					p.Q712X		Atlas-SNP	.											.	CCDC57	102	.	0			c.C2134T						.						25.0	29.0	27.0					17																	80115731		1989	4159	6148	SO:0001587	stop_gained	284001	exon14			CCACCTGCTTCCG	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2134C>T	chr17.hg19:g.80115731G>A	ENSP00000374292:p.Gln712*	21.0	0.0		80.0	6.0	NM_198082	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	hg19		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.540187|5.540187	0.96474|0.96474	.|.	.|.	ENSG00000176155|ENSG00000176155	ENST00000419322|ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343	.|.	.|.	.|.	3.19|3.19	2.15|2.15	0.27550|0.27550	.|.	.|0.000000	.|0.38959	.|N	.|0.001517	T|.	0.60932|.	0.2307|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.58918|.	-0.7551|.	4|.	.|0.49607	.|T	.|0.09	-22.0135|-22.0135	8.1007|8.1007	0.30854|0.30854	0.0:0.2506:0.7494:0.0|0.0:0.2506:0.7494:0.0	.|.	.|.	.|.	.|.	V|X	57|712;712;220;712	.|.	.|ENSP00000315967:Q220X	A|Q	-|-	2|1	0|0	CCDC57|CCDC57	77709020|77709020	0.988000|0.988000	0.35896|0.35896	0.645000|0.645000	0.29479|0.29479	0.176000|0.176000	0.22953|0.22953	2.236000|2.236000	0.43052|0.43052	0.612000|0.612000	0.30071|0.30071	0.462000|0.462000	0.41574|0.41574	GCA|CAG	.	.		0.682	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082	
LPIN2	9663	hgsc.bcm.edu	37	18	2925247	2925247	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:2925247G>C	ENST00000261596.4	-	14	2151	c.1913C>G	c.(1912-1914)tCt>tGt	p.S638C		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	638	C-LIP.				cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GAGGCGGAGAGACTTCTTATA	0.493																																					p.S638C		Atlas-SNP	.											.	LPIN2	75	.	0			c.C1913G						.						98.0	95.0	96.0					18																	2925247		2203	4300	6503	SO:0001583	missense	9663	exon14			CGGAGAGACTTCT	D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.1913C>G	chr18.hg19:g.2925247G>C	ENSP00000261596:p.Ser638Cys	89.0	0.0		167.0	9.0	NM_014646	A7MD25|D3DUH3	Missense_Mutation	SNP	ENST00000261596.4	hg19	CCDS11829.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998856	0.54147	.	.	ENSG00000101577	ENST00000261596	D	0.82433	-1.61	4.41	4.41	0.53225	.	0.117372	0.64402	D	0.000012	D	0.91690	0.7373	M	0.88775	2.98	0.80722	D	1	D	0.67145	0.996	P	0.62813	0.907	D	0.93294	0.6671	10	0.62326	D	0.03	-17.4867	17.9017	0.88906	0.0:0.0:1.0:0.0	.	638	Q92539	LPIN2_HUMAN	C	638	ENSP00000261596:S638C	ENSP00000261596:S638C	S	-	2	0	LPIN2	2915247	1.000000	0.71417	0.997000	0.53966	0.084000	0.17831	9.214000	0.95140	2.366000	0.80165	0.563000	0.77884	TCT	.	.		0.493	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254363.2	NM_014646	
RAB31	11031	hgsc.bcm.edu	37	18	9859227	9859227	+	Missense_Mutation	SNP	C	C	A	rs147665641	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:9859227C>A	ENST00000578921.1	+	7	734	c.493C>A	c.(493-495)Cgc>Agc	p.R165S	RAB31_ENST00000577284.1_3'UTR	NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	164					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TGTTGCAGGCCGCCAGATCCC	0.527																																					p.R165S		Atlas-SNP	.											RAB31,colon,carcinoma,0,1	RAB31	23	.	0			c.C493A						.						43.0	48.0	46.0					18																	9859227		1948	4140	6088	SO:0001583	missense	11031	exon7			GCAGGCCGCCAGA	U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.493C>A	chr18.hg19:g.9859227C>A	ENSP00000461945:p.Arg165Ser	54.0	0.0		141.0	24.0	NM_006868	B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	ENST00000578921.1	hg19	CCDS45826.1	.	.	.	.	.	.	.	.	.	.	C	17.12	3.308590	0.60305	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	5.73	5.73	0.89815	.	0.302822	0.35525	N	0.003154	T	0.51601	0.1684	L	0.28400	0.85	0.54753	D	0.999986	B	0.13145	0.007	B	0.23419	0.046	T	0.40942	-0.9536	8	.	.	.	1.9938	15.769	0.78149	0.0:1.0:0.0:0.0	.	164	Q13636	RAB31_HUMAN	S	165;156	.	.	R	+	1	0	RAB31	9849227	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.220000	0.58567	2.868000	0.98415	0.557000	0.71058	CGC	.	C|0.999;T|0.001		0.527	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442280.3		
CEP76	79959	hgsc.bcm.edu	37	18	12691398	12691398	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:12691398C>A	ENST00000262127.2	-	7	1118	c.893G>T	c.(892-894)cGa>cTa	p.R298L	PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.R223L	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	298					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|protein complex (GO:0043234)				endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGTGAGGGTCGAATTTGCAA	0.348																																					p.R298L		Atlas-SNP	.											.	CEP76	45	.	0			c.G893T						.						101.0	102.0	102.0					18																	12691398		2203	4300	6503	SO:0001583	missense	79959	exon7			GAGGGTCGAATTT	BC026307	CCDS11861.1, CCDS62390.1	18p11.21	2014-02-20	2005-12-01	2005-12-01	ENSG00000101624	ENSG00000101624			25727	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 9"""	C18orf9		14654843	Standard	NM_024899		Approved	HsT1705, FLJ12542	uc002kri.4	Q8TAP6	OTTHUMG00000131701	ENST00000262127.2:c.893G>T	chr18.hg19:g.12691398C>A	ENSP00000262127:p.Arg298Leu	65.0	0.0		127.0	10.0	NM_024899	B0YJB2|B4DXG5|B4DZW1|Q658N5|Q9H9U7	Missense_Mutation	SNP	ENST00000262127.2	hg19	CCDS11861.1	.	.	.	.	.	.	.	.	.	.	C	34	5.373872	0.95923	.	.	ENSG00000101624	ENST00000262127;ENST00000423709	D;T	0.81499	-1.5;-1.45	5.67	5.67	0.87782	.	0.056826	0.64402	D	0.000001	D	0.90253	0.6952	M	0.80183	2.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.987	D	0.87685	0.2550	10	0.31617	T	0.26	-9.0197	20.1358	0.98028	0.0:1.0:0.0:0.0	.	223;298;120	Q8TAP6-2;Q8TAP6;Q8TAP6-3	.;CEP76_HUMAN;.	L	298;223	ENSP00000262127:R298L;ENSP00000403074:R223L	ENSP00000262127:R298L	R	-	2	0	CEP76	12681398	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.776000	0.85560	2.833000	0.97629	0.585000	0.79938	CGA	.	.		0.348	CEP76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254611.1	NM_024899	
CEP192	55125	hgsc.bcm.edu	37	18	13056654	13056654	+	Silent	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:13056654C>T	ENST00000325971.8	+	17	3870	c.2277C>T	c.(2275-2277)aaC>aaT	p.N759N	CEP192_ENST00000430049.2_Silent_p.N880N|CEP192_ENST00000506447.1_Silent_p.N1355N			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	759					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTGGTACAAACTGTGGAATTG	0.398																																					p.N1355N		Atlas-SNP	.											.	CEP192	340	.	0			c.C4065T						.						144.0	149.0	147.0					18																	13056654		2203	4300	6503	SO:0001819	synonymous_variant	55125	exon19			TACAAACTGTGGA	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2277C>T	chr18.hg19:g.13056654C>T		69.0	0.0		111.0	46.0	NM_032142	A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Silent	SNP	ENST00000325971.8	hg19																																																																																				.	.		0.398	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142	
ASXL3	80816	hgsc.bcm.edu	37	18	31314285	31314285	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:31314285C>T	ENST00000269197.5	+	10	988	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	330					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(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AGAGTTTACCCCAGAAATGCA	0.308																																					p.P330S		Atlas-SNP	.											.	ASXL3	405	.	0			c.C988T						.						51.0	50.0	50.0					18																	31314285		1798	4059	5857	SO:0001583	missense	80816	exon10			TTTACCCCAGAAA	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.988C>T	chr18.hg19:g.31314285C>T	ENSP00000269197:p.Pro330Ser	111.0	0.0		198.0	8.0	NM_030632	Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	hg19	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566279	0.86439	.	.	ENSG00000141431	ENST00000269197	T	0.25250	1.81	5.71	5.71	0.89125	.	0.227351	0.38492	N	0.001663	T	0.50735	0.1633	M	0.61703	1.905	0.54753	D	0.999986	D	0.89917	1.0	D	0.81914	0.995	T	0.34428	-0.9829	10	0.41790	T	0.15	.	19.8549	0.96755	0.0:1.0:0.0:0.0	.	330	Q9C0F0	ASXL3_HUMAN	S	330	ENSP00000269197:P330S	ENSP00000269197:P330S	P	+	1	0	ASXL3	29568283	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.365000	0.79537	2.699000	0.92147	0.460000	0.39030	CCA	.	.		0.308	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2		
SYT4	6860	hgsc.bcm.edu	37	18	40854035	40854035	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:40854035T>A	ENST00000255224.3	-	2	727	c.359A>T	c.(358-360)aAt>aTt	p.N120I	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.N102I	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	120					exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						CGGGGTTGCATTCTCCAGATC	0.433																																					p.N120I	NSCLC(85;81 1419 2855 22820 35912)	Atlas-SNP	.											.	SYT4	162	.	0			c.A359T						.						118.0	116.0	117.0					18																	40854035		2203	4298	6501	SO:0001583	missense	6860	exon2			GTTGCATTCTCCA	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.359A>T	chr18.hg19:g.40854035T>A	ENSP00000255224:p.Asn120Ile	85.0	0.0		188.0	8.0	NM_020783	B4DEU3|Q9P2K4	Missense_Mutation	SNP	ENST00000255224.3	hg19	CCDS11922.1	.	.	.	.	.	.	.	.	.	.	T	7.314	0.615635	0.14129	.	.	ENSG00000132872	ENST00000255224	T	0.37235	1.21	5.87	2.2	0.27929	.	0.335126	0.36002	N	0.002846	T	0.27489	0.0675	L	0.44542	1.39	0.33493	D	0.589003	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.25222	-1.0138	10	0.28530	T	0.3	.	9.812	0.40828	0.0:0.1939:0.0:0.8061	.	102;120	B4DEU3;Q9H2B2	.;SYT4_HUMAN	I	120	ENSP00000255224:N120I	ENSP00000255224:N120I	N	-	2	0	SYT4	39108033	1.000000	0.71417	0.949000	0.38748	0.606000	0.37113	3.844000	0.55873	0.206000	0.20587	0.533000	0.62120	AAT	.	.		0.433	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255851.2	NM_020783	
RAB27B	5874	hgsc.bcm.edu	37	18	52556472	52556472	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:52556472C>A	ENST00000262094.5	+	6	1006	c.485C>A	c.(484-486)aCa>aAa	p.T162K	RP11-839G9.1_ENST00000588466.1_RNA	NM_004163.4	NP_004154.2	O00194	RB27B_HUMAN	RAB27B, member RAS oncogene family	162					multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|multivesicular body membrane (GO:0032585)|trans-Golgi network transport vesicle (GO:0030140)|zymogen granule membrane (GO:0042589)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein domain specific binding (GO:0019904)			large_intestine(3)|lung(3)|skin(1)	7				Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219)		TATTTTGAAACAAGTGCAGCA	0.398																																					p.T162K		Atlas-SNP	.											.	RAB27B	24	.	0			c.C485A						.						94.0	87.0	90.0					18																	52556472		2203	4300	6503	SO:0001583	missense	5874	exon6			TTGAAACAAGTGC	U57093	CCDS11958.1	18q21.2	2006-12-18			ENSG00000041353	ENSG00000041353		"""RAB, member RAS oncogene"""	9767	protein-coding gene	gene with protein product		603869				9066979	Standard	NM_004163		Approved		uc002lfr.3	O00194	OTTHUMG00000132710	ENST00000262094.5:c.485C>A	chr18.hg19:g.52556472C>A	ENSP00000262094:p.Thr162Lys	40.0	0.0		108.0	7.0	NM_004163	B2RAB0|Q9BZB6	Missense_Mutation	SNP	ENST00000262094.5	hg19	CCDS11958.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072762	0.93950	.	.	ENSG00000041353	ENST00000262094	T	0.77750	-1.12	5.87	5.87	0.94306	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.92841	0.7723	H	0.97491	4.015	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.94500	0.7709	10	0.87932	D	0	-5.786	19.3531	0.94398	0.0:1.0:0.0:0.0	.	162	O00194	RB27B_HUMAN	K	162	ENSP00000262094:T162K	ENSP00000262094:T162K	T	+	2	0	RAB27B	50707470	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.509000	0.81698	2.941000	0.99782	0.655000	0.94253	ACA	.	.		0.398	RAB27B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256008.3	NM_004163	
VPS4B	9525	hgsc.bcm.edu	37	18	61067824	61067824	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:61067824T>C	ENST00000238497.5	-	6	800	c.597A>G	c.(595-597)atA>atG	p.I199M	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	199					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)			breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						CAGAGGAAGATATTGAAAAAA	0.373																																					p.I199M		Atlas-SNP	.											.	VPS4B	33	.	0			c.A597G						.						115.0	115.0	115.0					18																	61067824		2203	4300	6503	SO:0001583	missense	9525	exon6			GGAAGATATTGAA	AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.597A>G	chr18.hg19:g.61067824T>C	ENSP00000238497:p.Ile199Met	87.0	0.0		238.0	16.0	NM_004869	Q69HW4|Q9GZS7	Missense_Mutation	SNP	ENST00000238497.5	hg19	CCDS11983.1	.	.	.	.	.	.	.	.	.	.	T	18.02	3.529046	0.64860	.	.	ENSG00000119541	ENST00000238497	D	0.95853	-3.83	6.11	4.95	0.65309	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.173761	0.64402	D	0.000009	D	0.96383	0.8820	M	0.64567	1.98	0.80722	D	1	B;B;P	0.34837	0.295;0.295;0.472	P;P;P	0.51385	0.668;0.668;0.668	D	0.95892	0.8908	10	0.87932	D	0	-15.9957	12.4617	0.55734	0.0:0.0653:0.0:0.9347	.	199;199;199	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	M	199	ENSP00000238497:I199M	ENSP00000238497:I199M	I	-	3	3	VPS4B	59218804	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.712000	0.37940	1.119000	0.41883	0.533000	0.62120	ATA	.	.		0.373	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256198.2	NM_004869	
CDH7	1005	hgsc.bcm.edu	37	18	63430104	63430104	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr18:63430104G>T	ENST00000397968.2	+	2	452	c.26G>T	c.(25-27)tGc>tTc	p.C9F	CDH7_ENST00000323011.3_Missense_Mutation_p.C9F|CDH7_ENST00000536984.2_Missense_Mutation_p.C9F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	9					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GTGGAGTTCTGCCATTTTCTG	0.408																																					p.C9F		Atlas-SNP	.											.	CDH7	362	.	0			c.G26T						.						114.0	112.0	113.0					18																	63430104		2203	4300	6503	SO:0001583	missense	1005	exon2			AGTTCTGCCATTT	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.26G>T	chr18.hg19:g.63430104G>T	ENSP00000381058:p.Cys9Phe	54.0	0.0		131.0	8.0	NM_004361	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	hg19	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399009	0.25291	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.54279	0.58;0.6;0.58	5.83	4.96	0.65561	.	0.073160	0.64402	D	0.000013	T	0.47985	0.1475	L	0.58101	1.795	0.42167	D	0.991626	P;P	0.50943	0.723;0.94	B;B	0.41571	0.173;0.36	T	0.47873	-0.9083	10	0.12766	T	0.61	.	15.2241	0.73336	0.0672:0.0:0.9328:0.0	.	9;9	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	9	ENSP00000319166:C9F;ENSP00000443030:C9F;ENSP00000381058:C9F	ENSP00000319166:C9F	C	+	2	0	CDH7	61581084	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.450000	0.60041	1.487000	0.48415	-0.127000	0.14921	TGC	.	.		0.408	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
ABCA7	10347	hgsc.bcm.edu	37	19	1051263	1051263	+	Nonsense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:1051263A>T	ENST00000263094.6	+	20	3025	c.2794A>T	c.(2794-2796)Aag>Tag	p.K932*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.K932*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.K794*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	932	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGTCTCCAAGCAGAGTGT	0.642																																					p.K932X		Atlas-SNP	.											.	ABCA7	174	.	0			c.A2794T						.						51.0	49.0	50.0					19																	1051263		2190	4288	6478	SO:0001587	stop_gained	10347	exon20			GTCTCCAAGCAGA	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2794A>T	chr19.hg19:g.1051263A>T	ENSP00000263094:p.Lys932*	36.0	0.0		120.0	15.0	NM_019112	Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Nonsense_Mutation	SNP	ENST00000263094.6	hg19	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	43	10.507155	0.99418	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	.	.	.	4.49	4.49	0.54785	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7119	0.51630	1.0:0.0:0.0:0.0	.	.	.	.	X	932	.	ENSP00000263094:K932X	K	+	1	0	ABCA7	1002263	1.000000	0.71417	0.622000	0.29159	0.789000	0.44602	8.712000	0.91403	1.665000	0.50811	0.374000	0.22700	AAG	.	.		0.642	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112	
DPP9	91039	hgsc.bcm.edu	37	19	4682767	4682767	+	Silent	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:4682767G>A	ENST00000598800.1	-	21	2833	c.2328C>T	c.(2326-2328)aaC>aaT	p.N776N	DPP9_ENST00000262960.9_Silent_p.N805N|DPP9_ENST00000601173.1_5'Flank|DPP9_ENST00000594671.1_Silent_p.N776N|AC005594.3_ENST00000381796.1_RNA			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	776						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		CGTGCTGGTTGTTCTCAGGGA	0.652																																					p.N805N		Atlas-SNP	.											.	DPP9	59	.	0			c.C2415T						.						62.0	73.0	70.0					19																	4682767		2130	4253	6383	SO:0001819	synonymous_variant	91039	exon20			CTGGTTGTTCTCA	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.2328C>T	chr19.hg19:g.4682767G>A		56.0	0.0		119.0	13.0	NM_139159	O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Silent	SNP	ENST00000598800.1	hg19																																																																																				.	.		0.652	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2		
MUC16	94025	hgsc.bcm.edu	37	19	9002558	9002558	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:9002558G>T	ENST00000397910.4	-	51	40461	c.40258C>A	c.(40258-40260)Cac>Aac	p.H13420N	MUC16_ENST00000380951.5_Missense_Mutation_p.H61N	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13422	SEA 9. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGATGCCGTGGGTCAGCTGG	0.587																																					p.H13420N		Atlas-SNP	.											.	MUC16	4315	.	0			c.C40258A						.						187.0	170.0	175.0					19																	9002558		2150	4250	6400	SO:0001583	missense	94025	exon51			TGCCGTGGGTCAG	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40258C>A	chr19.hg19:g.9002558G>T	ENSP00000381008:p.His13420Asn	91.0	0.0		210.0	26.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	6.688	0.495604	0.12762	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.35605	1.3;1.3	2.75	1.69	0.24217	SEA (1);	.	.	.	.	T	0.43964	0.1271	L	0.46157	1.445	.	.	.	B;P	0.46859	0.003;0.885	B;P	0.60236	0.005;0.871	T	0.51568	-0.8689	8	0.37606	T	0.19	-0.5084	7.0787	0.25219	0.0:0.0:0.7305:0.2695	.	21065;13420	Q8WXI7;B5ME49	MUC16_HUMAN;.	N	13420;61	ENSP00000381008:H13420N;ENSP00000370338:H61N	ENSP00000370338:H61N	H	-	1	0	MUC16	8863558	0.001000	0.12720	0.250000	0.24296	0.003000	0.03518	0.235000	0.17948	0.737000	0.32582	-0.656000	0.03901	CAC	.	.		0.587	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9086899	9086899	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:9086899C>G	ENST00000397910.4	-	1	5119	c.4916G>C	c.(4915-4917)aGt>aCt	p.S1639T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1639	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCCACTACTACTGCTCCCTGT	0.493																																					p.S1639T		Atlas-SNP	.											.	MUC16	4315	.	0			c.G4916C						.						203.0	195.0	198.0					19																	9086899		2034	4189	6223	SO:0001583	missense	94025	exon1			CTACTACTGCTCC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4916G>C	chr19.hg19:g.9086899C>G	ENSP00000381008:p.Ser1639Thr	144.0	0.0		317.0	16.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	2.345	-0.350148	0.05173	.	.	ENSG00000181143	ENST00000397910	T	0.02552	4.25	1.33	0.156	0.14910	.	.	.	.	.	T	0.01730	0.0055	N	0.08118	0	.	.	.	D	0.55172	0.97	B	0.42386	0.386	T	0.48281	-0.9049	8	0.87932	D	0	.	5.2179	0.15352	0.0:0.6276:0.3724:0.0	.	1639	B5ME49	.	T	1639	ENSP00000381008:S1639T	ENSP00000381008:S1639T	S	-	2	0	MUC16	8947899	0.000000	0.05858	0.000000	0.03702	0.128000	0.20619	-0.229000	0.09098	0.088000	0.17205	0.313000	0.20887	AGT	.	.		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
OR7D4	125958	hgsc.bcm.edu	37	19	9324856	9324856	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:9324856G>T	ENST00000308682.2	-	1	686	c.658C>A	c.(658-660)Cag>Aag	p.Q220K		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	220						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAGACAATCTGAGAGTAGGAG	0.512																																					p.Q220K		Atlas-SNP	.											.	OR7D4	66	.	0			c.C658A						.						79.0	74.0	76.0					19																	9324856		2203	4300	6503	SO:0001583	missense	125958	exon1			CAATCTGAGAGTA		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.658C>A	chr19.hg19:g.9324856G>T	ENSP00000310488:p.Gln220Lys	65.0	0.0		88.0	7.0	NM_001005191	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.291492	0.01375	.	.	ENSG00000174667	ENST00000308682	T	0.00183	8.6	3.75	-1.99	0.07457	GPCR, rhodopsin-like superfamily (1);	0.778678	0.11432	N	0.564673	T	0.00109	0.0003	N	0.25825	0.765	0.09310	N	1	B	0.14805	0.011	B	0.20577	0.03	T	0.26430	-1.0103	10	0.02654	T	1	.	7.1788	0.25760	0.0893:0.0:0.2881:0.6225	.	220	Q8NG98	OR7D4_HUMAN	K	220	ENSP00000310488:Q220K	ENSP00000310488:Q220K	Q	-	1	0	OR7D4	9185856	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-2.398000	0.01051	-0.336000	0.08438	0.205000	0.17691	CAG	.	.		0.512	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		
OR7D4	125958	hgsc.bcm.edu	37	19	9324879	9324879	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:9324879G>T	ENST00000308682.2	-	1	663	c.635C>A	c.(634-636)gCt>gAt	p.A212D		NM_001005191.2	NP_001005191.1	Q8NG98	OR7D4_HUMAN	olfactory receptor, family 7, subfamily D, member 4	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1)	26						GAGGATCCCAGCTACAGGAAA	0.522																																					p.A212D		Atlas-SNP	.											OR7D4,right_upper_lobe,carcinoma,0,1	OR7D4	66	.	0			c.C635A						.						88.0	83.0	85.0					19																	9324879		2203	4300	6503	SO:0001583	missense	125958	exon1			ATCCCAGCTACAG		CCDS32901.1	19p13.2	2013-12-17		2004-03-10	ENSG00000174667	ENSG00000174667		"""GPCR / Class A : Olfactory receptors"""	8380	protein-coding gene	gene with protein product		611538		OR7D4P			Standard	NM_001005191		Approved	hg105, OR19-B	uc002mla.2	Q8NG98	OTTHUMG00000179936	ENST00000308682.2:c.635C>A	chr19.hg19:g.9324879G>T	ENSP00000310488:p.Ala212Asp	59.0	0.0		85.0	10.0	NM_001005191	A8CAH8|A8CAH9|A8CAI0|A8CAI1|B9EH79	Missense_Mutation	SNP	ENST00000308682.2	hg19	CCDS32901.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.997375	0.35226	.	.	ENSG00000174667	ENST00000308682	T	0.39229	1.09	3.84	-3.0	0.05480	GPCR, rhodopsin-like superfamily (1);	0.686881	0.13725	N	0.367118	T	0.34135	0.0887	M	0.64170	1.965	0.09310	N	1	P	0.34909	0.475	B	0.36335	0.222	T	0.30149	-0.9988	10	0.66056	D	0.02	.	5.0162	0.14337	0.2679:0.2841:0.448:0.0	.	212	Q8NG98	OR7D4_HUMAN	D	212	ENSP00000310488:A212D	ENSP00000310488:A212D	A	-	2	0	OR7D4	9185879	0.004000	0.15560	0.000000	0.03702	0.161000	0.22273	1.376000	0.34306	-0.511000	0.06514	0.205000	0.17691	GCT	.	.		0.522	OR7D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449004.1		
PIN1	5300	hgsc.bcm.edu	37	19	9949168	9949168	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:9949168G>T	ENST00000247970.4	+	2	137	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	PIN1_ENST00000588695.1_Missense_Mutation_p.G39C|PIN1_ENST00000380889.6_3'UTR|PIN1_ENST00000587625.1_Missense_Mutation_p.G39C	NM_006221.3	NP_006212.1	Q13526	PIN1_HUMAN	peptidylprolyl cis/trans isomerase, NIMA-interacting 1	39	WW. {ECO:0000255|PROSITE- ProRule:PRU00224}.				cell cycle (GO:0007049)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|negative regulation of cell motility (GO:2000146)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of cytokinesis (GO:0032465)|regulation of mitosis (GO:0007088)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTPase activating protein binding (GO:0032794)|mitogen-activated protein kinase kinase binding (GO:0031434)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|phosphoserine binding (GO:0050815)|phosphothreonine binding (GO:0050816)	p.G39C(1)		skin(3)	3						GCGGCCCAGCGGCAACAGCAG	0.652																																					p.G39C		Atlas-SNP	.											PIN1_ENST00000247970,NS,carcinoma,0,1	PIN1	7	.	1	Substitution - Missense(1)	lung(1)	c.G115T						.						17.0	19.0	18.0					19																	9949168		2201	4298	6499	SO:0001583	missense	5300	exon2			CCCAGCGGCAACA		CCDS12220.1	19p13	2014-09-17	2008-03-25		ENSG00000127445	ENSG00000127445			8988	protein-coding gene	gene with protein product		601052	"""protein (peptidyl-prolyl cis/trans isomerase) NIMA-interacting 1"""			8606777	Standard	NM_006221		Approved	dod	uc002mml.2	Q13526		ENST00000247970.4:c.115G>T	chr19.hg19:g.9949168G>T	ENSP00000247970:p.Gly39Cys	30.0	0.0		96.0	9.0	NM_006221	A8K4V9|Q53X75	Missense_Mutation	SNP	ENST00000247970.4	hg19	CCDS12220.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.755544	0.69648	.	.	ENSG00000127445	ENST00000247970;ENST00000424497	T	0.76839	-1.05	3.63	2.59	0.31030	WW/Rsp5/WWP (3);	0.327520	0.27851	N	0.017596	T	0.80969	0.4726	M	0.69185	2.1	0.42263	D	0.992026	D;P;D	0.65815	0.995;0.894;0.983	P;P;P	0.58721	0.769;0.649;0.844	T	0.79351	-0.1839	9	.	.	.	-36.7392	6.9465	0.24522	0.1238:0.0:0.8762:0.0	.	39;39;39	B3KUM4;Q13526;E7EQR5	.;PIN1_HUMAN;.	C	39	ENSP00000247970:G39C	.	G	+	1	0	PIN1	9810168	1.000000	0.71417	0.996000	0.52242	0.968000	0.65278	5.971000	0.70440	1.125000	0.41998	0.555000	0.69702	GGC	.	.		0.652	PIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451107.1		
ZNF440	126070	hgsc.bcm.edu	37	19	11942428	11942428	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:11942428G>A	ENST00000304060.5	+	4	601	c.437G>A	c.(436-438)tGt>tAt	p.C146Y		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	146					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(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCATGTAAGTGTCAACAACCT	0.413																																					p.C146Y		Atlas-SNP	.											.	ZNF440	56	.	0			c.G437A						.						158.0	157.0	157.0					19																	11942428		2203	4300	6503	SO:0001583	missense	126070	exon4			GTAAGTGTCAACA	AK095252	CCDS42503.1	19p13.13	2013-01-08	2006-08-14	2006-08-14	ENSG00000171295	ENSG00000171295		"""Zinc fingers, C2H2-type"", ""-"""	20874	protein-coding gene	gene with protein product							Standard	NM_152357		Approved	FLJ37933	uc002msp.1	Q8IYI8	OTTHUMG00000156403	ENST00000304060.5:c.437G>A	chr19.hg19:g.11942428G>A	ENSP00000305373:p.Cys146Tyr	96.0	0.0		203.0	76.0	NM_152357	Q8N1R9	Missense_Mutation	SNP	ENST00000304060.5	hg19	CCDS42503.1	.	.	.	.	.	.	.	.	.	.	g	8.537	0.872302	0.17322	.	.	ENSG00000171295	ENST00000304060;ENST00000457526;ENST00000427505;ENST00000414255	T;T;T;T	0.58358	0.34;1.3;2.99;5.16	0.91	0.91	0.19337	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.66197	0.2765	M	0.89968	3.075	0.22996	N	0.998452	P	0.48640	0.913	P	0.53450	0.726	T	0.56661	-0.7942	9	0.72032	D	0.01	.	5.1414	0.14961	0.0:0.0:1.0:0.0	.	146	Q8IYI8	ZN440_HUMAN	Y	146;24;149;148	ENSP00000305373:C146Y;ENSP00000404425:C24Y;ENSP00000393489:C149Y;ENSP00000411974:C148Y	ENSP00000305373:C146Y	C	+	2	0	ZNF440	11803428	.	.	0.041000	0.18516	0.009000	0.06853	.	.	0.806000	0.34183	0.205000	0.17691	TGT	.	.		0.413	ZNF440-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344508.1	NM_152357	
ZNF91	7644	hgsc.bcm.edu	37	19	23545393	23545393	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:23545393C>A	ENST00000300619.7	-	4	593	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	ZNF91_ENST00000397082.2_Missense_Mutation_p.D98Y|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	130					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTACACTCATCCACACTTTTA	0.338																																					p.D130Y		Atlas-SNP	.											.	ZNF91	349	.	0			c.G388T						.						76.0	81.0	80.0					19																	23545393		2157	4280	6437	SO:0001583	missense	7644	exon4			ACTCATCCACACT	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.388G>T	chr19.hg19:g.23545393C>A	ENSP00000300619:p.Asp130Tyr	95.0	0.0		207.0	22.0	NM_003430	A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	hg19	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	2.880	-0.232000	0.05983	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.36;3.36	0.987	-0.984	0.10259	.	.	.	.	.	T	0.15522	0.0374	L	0.61387	1.9	0.09310	N	1	B;D	0.89917	0.291;1.0	B;D	0.74674	0.093;0.984	T	0.12451	-1.0547	9	0.66056	D	0.02	.	3.7254	0.08473	0.0:0.661:0.0:0.339	.	98;130	Q05481-2;Q05481	.;ZNF91_HUMAN	Y	130;98	ENSP00000300619:D130Y;ENSP00000380272:D98Y	ENSP00000300619:D130Y	D	-	1	0	ZNF91	23337233	0.000000	0.05858	0.007000	0.13788	0.322000	0.28314	-0.648000	0.05391	-0.453000	0.07076	0.174000	0.16983	GAT	.	.		0.338	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430	
ANKRD27	84079	hgsc.bcm.edu	37	19	33134347	33134347	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:33134347T>A	ENST00000306065.4	-	7	787	c.629A>T	c.(628-630)cAg>cTg	p.Q210L	ANKRD27_ENST00000587352.1_Missense_Mutation_p.Q210L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	210					early endosome to late endosome transport (GO:0045022)|positive regulation of GTPase activity (GO:0043547)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|lysosome (GO:0005764)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTCCACTGCCTGCTTCATCAG	0.567																																					p.Q210L		Atlas-SNP	.											.	ANKRD27	86	.	0			c.A629T						.						165.0	173.0	171.0					19																	33134347		2203	4300	6503	SO:0001583	missense	84079	exon7			ACTGCCTGCTTCA	AK054561	CCDS32986.1	19q13.12	2013-01-10				ENSG00000105186		"""Ankyrin repeat domain containing"""	25310	protein-coding gene	gene with protein product	"""Vps9 domain and ankyrin-repeat-containing protein"""					11230166, 16525121	Standard	NM_032139		Approved	FLJ00040, DKFZp434L0718, VARP	uc002ntn.1	Q96NW4		ENST00000306065.4:c.629A>T	chr19.hg19:g.33134347T>A	ENSP00000304292:p.Gln210Leu	52.0	0.0		118.0	63.0	NM_032139	Q71MF5|Q86UC3|Q8ND80|Q9H0I4	Missense_Mutation	SNP	ENST00000306065.4	hg19	CCDS32986.1	.	.	.	.	.	.	.	.	.	.	T	13.77	2.337772	0.41398	.	.	ENSG00000105186	ENST00000306065	T	0.29397	1.57	5.59	5.59	0.84812	.	0.000000	0.56097	D	0.000034	T	0.28499	0.0705	N	0.08118	0	0.41503	D	0.988297	D	0.71674	0.998	P	0.60117	0.869	T	0.09378	-1.0677	10	0.07990	T	0.79	-24.0274	15.8187	0.78624	0.0:0.0:0.0:1.0	.	210	Q96NW4	ANR27_HUMAN	L	210	ENSP00000304292:Q210L	ENSP00000304292:Q210L	Q	-	2	0	ANKRD27	37826187	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.923000	0.75817	2.135000	0.66039	0.363000	0.22086	CAG	.	.		0.567	ANKRD27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450329.1	NM_032139	
RGS9BP	388531	hgsc.bcm.edu	37	19	33167297	33167297	+	Missense_Mutation	SNP	C	C	T	rs371159333		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:33167297C>T	ENST00000334176.3	+	1	985	c.128C>T	c.(127-129)aCg>aTg	p.T43M	ANKRD27_ENST00000306065.4_5'Flank|ANKRD27_ENST00000587352.1_5'Flank	NM_207391.2	NP_997274.2	Q6ZS82	R9BP_HUMAN	regulator of G protein signaling 9 binding protein	43					detection of light stimulus involved in visual perception (GO:0050908)|negative regulation of signal transduction (GO:0009968)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	integral component of membrane (GO:0016021)				central_nervous_system(1)|lung(2)	3	Esophageal squamous(110;0.137)					CTGCAAAAGACGCGCCAGAAG	0.701																																					p.T43M		Atlas-SNP	.											.	RGS9BP	9	.	0			c.C128T						.	C	MET/THR	0,4332		0,0,2166	18.0	16.0	17.0		128	3.6	1.0	19		17	1,8527		0,1,4263	no	missense	RGS9BP	NM_207391.2	81	0,1,6429	TT,TC,CC		0.0117,0.0,0.0078	probably-damaging	43/236	33167297	1,12859	2166	4264	6430	SO:0001583	missense	388531	exon1			AAAAGACGCGCCA	AW302149	CCDS12424.1	19q13.11	2008-02-05	2007-08-14			ENSG00000186326			30304	protein-coding gene	gene with protein product		607814	"""regulator of G protein signalling 9 binding protein"""			12119397, 8889548	Standard	NM_207391		Approved	FLJ45744, PERRS, R9AP, RGS9	uc002ntp.1	Q6ZS82		ENST00000334176.3:c.128C>T	chr19.hg19:g.33167297C>T	ENSP00000334134:p.Thr43Met	8.0	0.0		18.0	6.0	NM_207391	Q6ZVJ6	Missense_Mutation	SNP	ENST00000334176.3	hg19	CCDS12424.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191750	0.78902	0.0	1.17E-4	ENSG00000186326	ENST00000334176	T	0.31510	1.49	4.63	3.6	0.41247	.	0.000000	0.85682	U	0.000000	T	0.48314	0.1493	M	0.80847	2.515	0.80722	D	1	D	0.67145	0.996	P	0.54460	0.753	T	0.57254	-0.7843	10	0.87932	D	0	-33.2445	12.5274	0.56093	0.0:0.9194:0.0:0.0806	.	43	Q6ZS82	R9BP_HUMAN	M	43	ENSP00000334134:T43M	ENSP00000334134:T43M	T	+	2	0	RGS9BP	37859137	1.000000	0.71417	1.000000	0.80357	0.635000	0.38103	5.836000	0.69375	1.165000	0.42670	0.305000	0.20034	ACG	.	.		0.701	RGS9BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450337.1	NM_207391	
KIAA0355	9710	hgsc.bcm.edu	37	19	34791740	34791740	+	Missense_Mutation	SNP	A	A	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:34791740A>C	ENST00000299505.6	+	2	1235	c.362A>C	c.(361-363)cAg>cCg	p.Q121P		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	121										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					AAAGATGTGCAGGAGCATGTC	0.512																																					p.Q121P		Atlas-SNP	.											.	KIAA0355	105	.	0			c.A362C						.						55.0	46.0	49.0					19																	34791740		2203	4300	6503	SO:0001583	missense	9710	exon2			ATGTGCAGGAGCA		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.362A>C	chr19.hg19:g.34791740A>C	ENSP00000299505:p.Gln121Pro	48.0	0.0		128.0	15.0	NM_014686	Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	hg19	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	A	15.94	2.980051	0.53827	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.65333	0.2681	L	0.27053	0.805	0.80722	D	1	D	0.64830	0.994	D	0.75484	0.986	T	0.69964	-0.5002	9	0.87932	D	0	-11.3164	15.4502	0.75268	1.0:0.0:0.0:0.0	.	121	O15063	K0355_HUMAN	P	121	.	ENSP00000299505:Q121P	Q	+	2	0	KIAA0355	39483580	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	8.910000	0.92685	2.107000	0.64212	0.459000	0.35465	CAG	.	.		0.512	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686	
SBSN	374897	hgsc.bcm.edu	37	19	36019030	36019030	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:36019030C>A	ENST00000452271.2	-	1	182	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	SBSN_ENST00000518157.1_Missense_Mutation_p.D52Y	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	52	Ala/Gly/His-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTGATGCCATCCAGGGCCTTG	0.567																																					p.D52Y		Atlas-SNP	.											.	SBSN	58	.	0			c.G154T						.						197.0	169.0	179.0					19																	36019030		2203	4300	6503	SO:0001583	missense	374897	exon1			TGCCATCCAGGGC	AY358701	CCDS12464.1, CCDS54253.1	19q13.13	2008-02-05							24950	protein-coding gene	gene with protein product		609969				12228223	Standard	NM_198538		Approved	UNQ698, HLAR698	uc002oad.2	Q6UWP8		ENST00000452271.2:c.154G>T	chr19.hg19:g.36019030C>A	ENSP00000430242:p.Asp52Tyr	81.0	0.0		205.0	44.0	NM_001166034	A8K5J0|E9PBV3	Missense_Mutation	SNP	ENST00000452271.2	hg19	CCDS54253.1	.	.	.	.	.	.	.	.	.	.	C	17.06	3.291395	0.59976	.	.	ENSG00000189001	ENST00000452271;ENST00000518157	T;T	0.53206	0.76;0.63	4.71	4.71	0.59529	.	0.402247	0.20878	N	0.084053	T	0.55242	0.1908	L	0.34521	1.04	0.27539	N	0.950856	D;D	0.65815	0.995;0.984	P;D	0.64506	0.807;0.926	T	0.51490	-0.8699	10	0.72032	D	0.01	.	13.1495	0.59482	0.0:1.0:0.0:0.0	.	52;52	Q6UWP8;E9PBV3	SBSN_HUMAN;.	Y	52	ENSP00000430242:D52Y;ENSP00000428771:D52Y	ENSP00000430242:D52Y	D	-	1	0	SBSN	40710870	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	3.545000	0.53648	2.131000	0.65755	0.555000	0.69702	GAT	.	.		0.567	SBSN-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109463.3	NM_198538	
ZNF527	84503	hgsc.bcm.edu	37	19	37879212	37879212	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:37879212G>T	ENST00000436120.2	+	5	368	c.261G>T	c.(259-261)tgG>tgT	p.W87C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	87	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)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCAGACTGGGAGTCTTGGT	0.383																																					p.W87C		Atlas-SNP	.											.	ZNF527	78	.	0			c.G261T						.						44.0	42.0	42.0					19																	37879212		1822	4086	5908	SO:0001583	missense	84503	exon5			AGACTGGGAGTCT	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.261G>T	chr19.hg19:g.37879212G>T	ENSP00000390179:p.Trp87Cys	70.0	0.0		284.0	23.0	NM_032453	B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	hg19	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413878	0.42817	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	4.72	3.62	0.41486	.	0.000000	0.30501	N	0.009483	T	0.39306	0.1073	N	0.16862	0.45	0.80722	D	1	B;B	0.20988	0.03;0.05	B;B	0.21151	0.015;0.033	T	0.35226	-0.9797	9	0.51188	T	0.08	.	10.1897	0.43019	0.0:0.0:0.8027:0.1973	.	87;55	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	C	87;55;35	.	ENSP00000325231:W55C	W	+	3	0	ZNF527	42571052	0.786000	0.28738	1.000000	0.80357	0.991000	0.79684	0.462000	0.21956	2.455000	0.83008	0.655000	0.94253	TGG	.	.		0.383	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453	
WDR87	83889	hgsc.bcm.edu	37	19	38378502	38378503	+	Nonsense_Mutation	DNP	CC	CC	AG	rs564531656		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:38378502_38378503CC>AG	ENST00000303868.5	-	6	5915_5916	c.5691_5692GG>CT	c.(5689-5694)caGGaa>caCTaa	p.1897_1898QE>H*	WDR87_ENST00000447313.2_Nonsense_Mutation_p.1936_1937QE>H*	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1897	Glu-rich.									NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GTCTCCTTTTCCTGTGTCAGCT	0.411																																					p.E1898X|p.Q1897H		Atlas-SNP	.											.	WDR87	191	.	0			c.G5692T|c.G5691C						.																																			SO:0001587	stop_gained	83889	exon6			CCTTTTCCTGTGT|CTTTTCCTGTGTC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.5691_5692delinsAG	chr19.hg19:g.38378502_38378503delinsAG	ENSP00000368025:p.Q1897_E1898delinsH*	110.0|111.0	0.0		274.0|276.0	18.0	NM_031951	Q9BWV9	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000303868.5	hg19	CCDS46063.1																																																																																			.	.		0.411	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2	XM_940478	
FCGBP	8857	hgsc.bcm.edu	37	19	40366097	40366097	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:40366097C>T	ENST00000221347.6	-	30	14144	c.14137G>A	c.(14137-14139)Gct>Act	p.A4713T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4713						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACGTAGGTAGCCACTGCAGGA	0.667																																					p.A4713T		Atlas-SNP	.											.	FCGBP	416	.	0			c.G14137A						.						35.0	44.0	41.0					19																	40366097		2201	4298	6499	SO:0001583	missense	8857	exon30			AGGTAGCCACTGC	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.14137G>A	chr19.hg19:g.40366097C>T	ENSP00000221347:p.Ala4713Thr	19.0	0.0		77.0	8.0	NM_003890	O95784	Missense_Mutation	SNP	ENST00000221347.6	hg19	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437238	0.25900	.	.	ENSG00000090920	ENST00000221347	D	0.86030	-2.06	4.47	4.47	0.54385	Uncharacterised domain, cysteine-rich (2);	0.512331	0.17949	U	0.156598	T	0.80919	0.4716	L	0.57130	1.785	0.09310	N	1	B	0.25850	0.136	B	0.25614	0.062	T	0.67776	-0.5583	10	0.26408	T	0.33	.	10.6625	0.45710	0.0:0.9057:0.0:0.0943	.	4713	Q9Y6R7	FCGBP_HUMAN	T	4713	ENSP00000221347:A4713T	ENSP00000221347:A4713T	A	-	1	0	FCGBP	45057937	0.000000	0.05858	0.975000	0.42487	0.581000	0.36288	-0.477000	0.06583	2.467000	0.83353	0.305000	0.20034	GCT	.	.		0.667	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
MAP3K10	4294	hgsc.bcm.edu	37	19	40715117	40715117	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:40715117G>A	ENST00000253055.3	+	6	1831	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	515					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCGGCTGAGGGCCATTCGCCG	0.552																																					p.A515T		Atlas-SNP	.											.	MAP3K10	70	.	0			c.G1543A						.						50.0	57.0	54.0					19																	40715117		2203	4300	6503	SO:0001583	missense	4294	exon6			CTGAGGGCCATTC	X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.1543G>A	chr19.hg19:g.40715117G>A	ENSP00000253055:p.Ala515Thr	18.0	0.0		85.0	41.0	NM_002446	Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	hg19	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	35	5.461008	0.96240	.	.	ENSG00000130758	ENST00000253055	T	0.12984	2.63	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.32734	0.0839	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	T	0.01591	-1.1317	10	0.59425	D	0.04	.	16.2537	0.82501	0.0:0.0:1.0:0.0	.	515	Q02779	M3K10_HUMAN	T	515	ENSP00000253055:A515T	ENSP00000253055:A515T	A	+	1	0	MAP3K10	45406957	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.712000	0.98738	2.518000	0.84900	0.555000	0.69702	GCC	.	.		0.552	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1	NM_002446	
CEACAM3	1084	hgsc.bcm.edu	37	19	42300660	42300660	+	Silent	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:42300660G>A	ENST00000357396.3	+	1	292	c.51G>A	c.(49-51)ggG>ggA	p.G17G	CEACAM3_ENST00000595255.1_3'UTR|CEACAM3_ENST00000221999.4_Silent_p.G17G|CEACAM3_ENST00000344550.4_Silent_p.G17G	NM_001815.2	NP_001806.2	P40198	CEAM3_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 3	17						integral component of membrane (GO:0016021)				endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						CCTGGCAGGGGCTTCTGCTCA	0.622																																					p.G17G		Atlas-SNP	.											.	CEACAM3	37	.	0			c.G51A						.						41.0	41.0	41.0					19																	42300660		2203	4300	6503	SO:0001819	synonymous_variant	1084	exon1			GCAGGGGCTTCTG	E03349	CCDS12586.2, CCDS62685.1	19q13.2	2013-01-11			ENSG00000170956	ENSG00000170956		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1815	protein-coding gene	gene with protein product		609142		CGM1			Standard	NM_001815		Approved	CD66d	uc002orn.2	P40198	OTTHUMG00000150142	ENST00000357396.3:c.51G>A	chr19.hg19:g.42300660G>A		50.0	0.0		65.0	29.0	NM_001815	G5E978|Q3KPH9	Silent	SNP	ENST00000357396.3	hg19	CCDS12586.2																																																																																			.	.		0.622	CEACAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316509.2	NM_001815	
PHLDB3	653583	hgsc.bcm.edu	37	19	43983597	43983597	+	Missense_Mutation	SNP	C	C	A	rs200179651		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:43983597C>A	ENST00000292140.5	-	14	1994	c.1634G>T	c.(1633-1635)cGc>cTc	p.R545L		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	545	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				GGTCTTGATGCGGCCGCCCAT	0.652																																					p.R545L		Atlas-SNP	.											.	PHLDB3	30	.	0			c.G1634T						.						15.0	18.0	17.0					19																	43983597		2039	4169	6208	SO:0001583	missense	653583	exon14			TTGATGCGGCCGC		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.1634G>T	chr19.hg19:g.43983597C>A	ENSP00000292140:p.Arg545Leu	37.0	0.0		221.0	19.0	NM_198850	Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	hg19	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	C	15.59	2.877146	0.51801	.	.	ENSG00000176531	ENST00000292140	T	0.74002	-0.8	4.59	3.56	0.40772	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000002	T	0.80330	0.4603	L	0.46157	1.445	0.50313	D	0.999866	D;D	0.76494	0.997;0.999	D;D	0.75484	0.949;0.986	T	0.81239	-0.1023	10	0.72032	D	0.01	.	11.179	0.48616	0.0:0.9062:0.0:0.0938	.	215;545	B2RXH3;Q6NSJ2	.;PHLB3_HUMAN	L	545	ENSP00000292140:R545L	ENSP00000292140:R545L	R	-	2	0	PHLDB3	48675437	0.996000	0.38824	0.899000	0.35326	0.222000	0.24845	2.367000	0.44213	1.260000	0.44134	-0.236000	0.12185	CGC	.	.		0.652	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2		
SYMPK	8189	hgsc.bcm.edu	37	19	46321291	46321291	+	Missense_Mutation	SNP	T	T	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:46321291T>G	ENST00000245934.7	-	23	3251	c.3007A>C	c.(3007-3009)Atc>Ctc	p.I1003L	RSPH6A_ENST00000221538.3_5'Flank|RSPH6A_ENST00000597055.1_5'Flank|SYMPK_ENST00000598155.1_5'UTR	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	1003					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		AGGGACTGGATGACGGTCCTC	0.632																																					p.I1003L		Atlas-SNP	.											.	SYMPK	104	.	0			c.A3007C						.						54.0	43.0	46.0					19																	46321291		2198	4294	6492	SO:0001583	missense	8189	exon23			ACTGGATGACGGT	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.3007A>C	chr19.hg19:g.46321291T>G	ENSP00000245934:p.Ile1003Leu	41.0	0.0		98.0	49.0	NM_004819	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	hg19	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	T	26.8	4.775170	0.90108	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.59810	0.2221	L	0.42008	1.315	0.80722	D	1	P	0.39022	0.655	P	0.47786	0.557	T	0.61922	-0.6963	9	0.52906	T	0.07	.	13.295	0.60292	0.0:0.0:0.0:1.0	.	1003	Q92797	SYMPK_HUMAN	L	1003	.	ENSP00000245934:I1003L	I	-	1	0	SYMPK	51013131	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.489000	0.81451	2.039000	0.60335	0.454000	0.30748	ATC	.	.		0.632	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819	
CCDC8	83987	hgsc.bcm.edu	37	19	46914889	46914889	+	Silent	SNP	C	C	T	rs538950740		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:46914889C>T	ENST00000307522.3	-	1	1952	c.1179G>A	c.(1177-1179)gcG>gcA	p.A393A		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	393					microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTGGGGCCTCCGCCCTCTGAT	0.582																																					p.A393A		Atlas-SNP	.											.	CCDC8	56	.	0			c.G1179A						.						121.0	114.0	116.0					19																	46914889		2203	4300	6503	SO:0001819	synonymous_variant	83987	exon1			GGCCTCCGCCCTC	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1179G>A	chr19.hg19:g.46914889C>T		105.0	0.0		131.0	9.0	NM_032040	Q8TB26	Silent	SNP	ENST00000307522.3	hg19	CCDS12685.1	.	.	.	.	.	.	.	.	.	.	C	4.719	0.133637	0.09032	.	.	ENSG00000169515	ENST00000540252	.	.	.	3.03	-0.331	0.12679	.	.	.	.	.	T	0.19485	0.0468	.	.	.	0.18873	N	0.999984	.	.	.	.	.	.	T	0.30736	-0.9968	5	0.16896	T	0.51	.	5.7112	0.17935	0.0:0.4164:0.0:0.5836	.	.	.	.	Q	240	.	ENSP00000441180:R240Q	R	-	2	0	CCDC8	51606729	0.000000	0.05858	0.009000	0.14445	0.012000	0.07955	-0.684000	0.05173	-0.134000	0.11516	-0.811000	0.03165	CGG	.	.		0.582	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040	
KCNA7	3743	hgsc.bcm.edu	37	19	49573841	49573841	+	Missense_Mutation	SNP	G	G	A	rs546430763		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:49573841G>A	ENST00000221444.1	-	2	1205	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	284					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	CGGAAGACACGCACCAATCGG	0.627																																					p.R284C	Colon(74;686 1235 3793 23366 48562)	Atlas-SNP	.											.	KCNA7	30	.	0			c.C850T						.						84.0	78.0	80.0					19																	49573841		2203	4300	6503	SO:0001583	missense	3743	exon2			AGACACGCACCAA	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.850C>T	chr19.hg19:g.49573841G>A	ENSP00000221444:p.Arg284Cys	28.0	0.0		72.0	9.0	NM_031886	A1KYX7|Q9BYS4	Missense_Mutation	SNP	ENST00000221444.1	hg19	CCDS12755.1	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243894	0.58995	.	.	ENSG00000104848	ENST00000221444	D	0.99652	-6.3	4.54	3.47	0.39725	Ion transport (1);	0.102964	0.64402	D	0.000008	D	0.99785	0.9910	H	0.99273	4.495	0.54753	D	0.999986	D	0.89917	1.0	D	0.87578	0.998	D	0.97373	0.9977	10	0.87932	D	0	.	10.7412	0.46154	0.0:0.0:0.5281:0.4719	.	284	Q96RP8	KCNA7_HUMAN	C	284	ENSP00000221444:R284C	ENSP00000221444:R284C	R	-	1	0	KCNA7	54265653	0.133000	0.22466	1.000000	0.80357	0.986000	0.74619	0.466000	0.22019	1.003000	0.39130	0.491000	0.48974	CGT	.	.		0.627	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	NM_031886	
VRK3	51231	hgsc.bcm.edu	37	19	50482384	50482384	+	Silent	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:50482384T>C	ENST00000599538.1	-	14	2056	c.1392A>G	c.(1390-1392)ccA>ccG	p.P464P	VRK3_ENST00000377011.2_Silent_p.P414P|VRK3_ENST00000594948.1_Silent_p.P464P|VRK3_ENST00000316763.3_Silent_p.P464P|VRK3_ENST00000601341.1_Silent_p.P414P|VRK3_ENST00000443401.2_Silent_p.P233P			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	464					negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TGGGGTCATATGGAGACACAC	0.587																																					p.P464P	Pancreas(6;90 181 4352 12603 17050 34726 35237 44094)	Atlas-SNP	.											.	VRK3	49	.	0			c.A1392G						.						151.0	122.0	132.0					19																	50482384		2203	4300	6503	SO:0001819	synonymous_variant	51231	exon14			GTCATATGGAGAC	AB031052	CCDS12791.1, CCDS33076.1	19q13.33	2011-01-14			ENSG00000105053	ENSG00000105053			18996	protein-coding gene	gene with protein product							Standard	XM_005258971		Approved		uc002prh.1	Q8IV63		ENST00000599538.1:c.1392A>G	chr19.hg19:g.50482384T>C		46.0	0.0		103.0	33.0	NM_016440	A6NEG5|A8KA53|Q502Y2|Q9P2V8	Silent	SNP	ENST00000599538.1	hg19	CCDS12791.1																																																																																			.	.		0.587	VRK3-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464815.1	NM_016440	
KLK11	11012	hgsc.bcm.edu	37	19	51530742	51530742	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:51530742T>C	ENST00000594768.1	-	1	217	c.32A>G	c.(31-33)aAg>aGg	p.K11R	KLK11_ENST00000594458.1_5'Flank|KLK11_ENST00000319720.7_Intron|KLK11_ENST00000453757.3_5'Flank|KLK11_ENST00000600362.1_5'Flank|KLK11_ENST00000391804.3_Intron|CTC-518B2.9_ENST00000594910.1_RNA	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	11						extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		GCCCGATGACTTCCAGTCCCG	0.607																																					p.K11R		Atlas-SNP	.											.	KLK11	28	.	0			c.A32G						.						91.0	92.0	92.0					19																	51530742		2203	4300	6503	SO:0001583	missense	11012	exon1			GATGACTTCCAGT	AB012917	CCDS12818.1, CCDS12819.1, CCDS54297.1	19q13.33	2011-09-07	2006-10-27			ENSG00000167757		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6359	protein-coding gene	gene with protein product		604434	"""kallikrein 11"""	PRSS20		9765601, 10662548, 16800724, 16800723	Standard	NM_006853		Approved	TLSP	uc002pvb.2	Q9UBX7		ENST00000594768.1:c.32A>G	chr19.hg19:g.51530742T>C	ENSP00000473047:p.Lys11Arg	32.0	0.0		83.0	11.0	NM_144947	O75837|Q0WXX5|Q8IXD7|Q9NS65	Missense_Mutation	SNP	ENST00000594768.1	hg19	CCDS12818.1	.	.	.	.	.	.	.	.	.	.	t	11.46	1.646536	0.29246	.	.	ENSG00000167757	ENST00000319756	D	0.87887	-2.31	2.76	2.76	0.32466	.	.	.	.	.	T	0.74313	0.3700	N	0.22421	0.69	0.22842	N	0.998667	P	0.37061	0.58	B	0.29176	0.099	T	0.64901	-0.6298	9	0.42905	T	0.14	.	7.392	0.26915	0.0:0.0:0.0:1.0	.	11	Q9UBX7	KLK11_HUMAN	R	11	ENSP00000324414:K11R	ENSP00000324414:K11R	K	-	2	0	KLK11	56222554	0.013000	0.17824	0.057000	0.19452	0.139000	0.21198	1.126000	0.31344	1.510000	0.48803	0.383000	0.25322	AAG	.	.		0.607	KLK11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464314.2	NM_006853	
SIGLEC12	89858	hgsc.bcm.edu	37	19	52001391	52001391	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:52001391C>A	ENST00000291707.3	-	5	1341	c.1286G>T	c.(1285-1287)gGg>gTg	p.G429V	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G311V	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	429	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCAGCACCCCAAGGTTCGA	0.617																																					p.G429V		Atlas-SNP	.											.	SIGLEC12	243	.	0			c.G1286T						.						50.0	49.0	49.0					19																	52001391		2203	4300	6503	SO:0001583	missense	89858	exon5			AGCACCCCAAGGT	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1286G>T	chr19.hg19:g.52001391C>A	ENSP00000291707:p.Gly429Val	41.0	0.0		104.0	9.0	NM_053003	Q8IYH7	Missense_Mutation	SNP	ENST00000291707.3	hg19	CCDS12833.1	.	.	.	.	.	.	.	.	.	.	.	9.204	1.029301	0.19512	.	.	ENSG00000254521	ENST00000291707	T	0.15718	2.4	1.39	-2.77	0.05877	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.198493	0.24779	U	0.035667	T	0.41673	0.1169	H	0.95402	3.665	0.09310	N	0.999998	D;D	0.69078	0.997;0.99	D;D	0.76071	0.987;0.929	T	0.33394	-0.9870	10	0.72032	D	0.01	.	2.2019	0.03926	0.2445:0.4208:0.0:0.3347	.	429;311	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	V	429	ENSP00000291707:G429V	ENSP00000291707:G429V	G	-	2	0	SIGLEC12	56693203	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.240000	0.18042	-0.859000	0.04105	-0.784000	0.03344	GGG	.	.		0.617	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384641.2	NM_053003	
ZNF613	79898	hgsc.bcm.edu	37	19	52443518	52443518	+	Silent	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:52443518C>G	ENST00000293471.6	+	4	751	c.72C>G	c.(70-72)ctC>ctG	p.L24L	ZNF613_ENST00000391794.4_5'UTR	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	24	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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AGTGGCAGCTCCTCGGCCCTG	0.517																																					p.L24L		Atlas-SNP	.											.	ZNF613	62	.	0			c.C72G						.						124.0	119.0	121.0					19																	52443518		2203	4300	6503	SO:0001819	synonymous_variant	79898	exon4			GCAGCTCCTCGGC	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.72C>G	chr19.hg19:g.52443518C>G		35.0	0.0		171.0	62.0	NM_001031721	Q96SS9	Silent	SNP	ENST00000293471.6	hg19	CCDS33089.1																																																																																			.	.		0.517	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840	
VN1R2	317701	hgsc.bcm.edu	37	19	53761997	53761997	+	Silent	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:53761997C>A	ENST00000341702.3	+	1	453	c.369C>A	c.(367-369)tcC>tcA	p.S123S		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	123					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		AGCCAAGATCCACAGATTTGA	0.403																																					p.S123S		Atlas-SNP	.											VN1R2,NS,carcinoma,0,1	VN1R2	71	.	0			c.C369A						.						85.0	90.0	88.0					19																	53761997		2203	4300	6503	SO:0001819	synonymous_variant	317701	exon1			AAGATCCACAGAT	AF370359	CCDS12862.1	19q13.42	2012-08-22			ENSG00000196131	ENSG00000196131		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19872	protein-coding gene	gene with protein product						12123587	Standard	NM_173856		Approved	V1RL2	uc002qbi.2	Q8NFZ6		ENST00000341702.3:c.369C>A	chr19.hg19:g.53761997C>A		72.0	0.0		130.0	61.0	NM_173856	A1L411|Q8TDU4	Silent	SNP	ENST00000341702.3	hg19	CCDS12862.1																																																																																			.	.		0.403	VN1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464285.1	NM_173856	
OSCAR	126014	hgsc.bcm.edu	37	19	54602893	54602893	+	Intron	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:54602893C>A	ENST00000284648.6	-	3	268				OSCAR_ENST00000356532.3_Splice_Site|OSCAR_ENST00000358375.4_Intron|OSCAR_ENST00000391760.1_Intron|OSCAR_ENST00000359649.4_Splice_Site|OSCAR_ENST00000351806.4_Intron|OSCAR_ENST00000391761.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					ataatgGCCACTAAGgggaat	0.428																																					.		Atlas-SNP	.											.	OSCAR	22	.	0			c.71-1G>T						.						86.0	81.0	83.0					19																	54602893		2203	4300	6503	SO:0001627	intron_variant	126014	exon4			TGGCCACTAAGGG	AK130199	CCDS12873.1, CCDS12874.1, CCDS12875.1, CCDS12876.1, CCDS62789.1, CCDS74444.1	19q13.42	2013-01-29			ENSG00000170909	ENSG00000170909		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29960	protein-coding gene	gene with protein product		606862				11805147	Standard	NM_206818		Approved		uc002qda.3	Q8IYS5	OTTHUMG00000064966	ENST00000284648.6:c.70+145G>T	chr19.hg19:g.54602893C>A		42.0	0.0		88.0	9.0	NM_130771	B7WNS2|Q5GRG5|Q8N763|Q8NHL4|Q8WXQ0|Q8WXQ1|Q8WXQ2	Splice_Site	SNP	ENST00000284648.6	hg19		.	.	.	.	.	.	.	.	.	.	C	5.864	0.343657	0.11126	.	.	ENSG00000170909	ENST00000356532;ENST00000359649	.	.	.	2.17	2.17	0.27698	.	.	.	.	.	.	.	.	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.9473	0.29993	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSCAR	59294705	0.015000	0.18098	0.013000	0.15412	0.087000	0.18053	0.337000	0.19841	1.558000	0.49541	0.456000	0.33151	.	.	.		0.428	OSCAR-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000139493.4	NM_133169	
LILRA1	11024	hgsc.bcm.edu	37	19	55111991	55111991	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:55111991C>A	ENST00000251372.3	+	9	1509	c.1327C>A	c.(1327-1329)Ctc>Atc	p.L443I	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000453777.1_Missense_Mutation_p.L243I	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	443					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		AGCTAACACCCTCAGCCCATC	0.537																																					p.L443I		Atlas-SNP	.											.	LILRA1	105	.	0			c.C1327A						.						96.0	96.0	96.0					19																	55111991		2203	4300	6503	SO:0001583	missense	11024	exon9			AACACCCTCAGCC	AF025530	CCDS12901.1, CCDS62802.1	19q13.4	2013-01-11			ENSG00000104974	ENSG00000104974		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6602	protein-coding gene	gene with protein product		604810				9548455	Standard	NM_006863		Approved	LIR-6, CD85i, LIR6	uc002qgh.2	O75019	OTTHUMG00000065701	ENST00000251372.3:c.1327C>A	chr19.hg19:g.55111991C>A	ENSP00000251372:p.Leu443Ile	63.0	0.0		167.0	20.0	NM_006863	O75018|Q3MJA6	Missense_Mutation	SNP	ENST00000251372.3	hg19	CCDS12901.1	.	.	.	.	.	.	.	.	.	.	C	2.191	-0.385190	0.04966	.	.	ENSG00000104974	ENST00000251372;ENST00000453777	T;T	0.00531	6.76;6.89	1.75	-3.5	0.04710	.	.	.	.	.	T	0.00356	0.0011	L	0.43152	1.355	0.09310	N	1	B	0.31519	0.327	B	0.19148	0.024	T	0.34254	-0.9836	9	0.20046	T	0.44	.	7.8519	0.29459	0.2912:0.7088:0.0:0.0	.	443	O75019	LIRA1_HUMAN	I	443;243	ENSP00000251372:L443I;ENSP00000413715:L243I	ENSP00000251372:L443I	L	+	1	0	LILRA1	59803803	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.580000	0.02121	-0.674000	0.05253	0.195000	0.17529	CTC	.	.		0.537	LILRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140807.2	NM_006863	
GP6	51206	hgsc.bcm.edu	37	19	55543507	55543507	+	Splice_Site	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:55543507C>T	ENST00000417454.1	-	3	352	c.325G>A	c.(325-327)Gga>Aga	p.G109R	GP6_ENST00000333884.2_Splice_Site_p.G109R|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.6_ENST00000585492.1_RNA|GP6_ENST00000310373.3_Splice_Site_p.G109R	NM_016363.4	NP_057447	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	109					blood coagulation (GO:0007596)|enzyme linked receptor protein signaling pathway (GO:0007167)|leukocyte migration (GO:0050900)|platelet activation (GO:0030168)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|tetraspanin-enriched microdomain (GO:0097197)	collagen binding (GO:0005518)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.G109*(1)		NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CTTCCTTTACCCGTGGCAACG	0.622																																					p.G109R		Atlas-SNP	.											GP6,NS,carcinoma,0,1	GP6	55	.	1	Substitution - Nonsense(1)	lung(1)	c.G325A						.						37.0	40.0	39.0					19																	55543507		2035	4175	6210	SO:0001630	splice_region_variant	51206	exon3			CTTTACCCGTGGC	AB035073	CCDS42626.1, CCDS46184.1, CCDS58678.1	19q13.4	2013-01-29			ENSG00000088053	ENSG00000088053		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14388	protein-coding gene	gene with protein product		605546				11027634	Standard	NM_001083899		Approved	GPVI	uc002qil.3	Q9HCN6	OTTHUMG00000159709	ENST00000417454.1:c.325+1G>A	chr19.hg19:g.55543507C>T		10.0	0.0		43.0	2.0	NM_016363	Q9HCN7|Q9UIF2	Missense_Mutation	SNP	ENST00000417454.1	hg19	CCDS46184.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352143	0.61183	.	.	ENSG00000088053	ENST00000417454;ENST00000310373;ENST00000333884	T;T;T	0.13901	2.55;2.55;2.55	3.83	3.83	0.44106	Immunoglobulin-like fold (1);	.	.	.	.	T	0.39963	0.1098	M	0.85099	2.735	0.30808	N	0.739123	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.992;0.995;0.997	T	0.42498	-0.9448	8	.	.	.	.	11.4045	0.49889	0.0:1.0:0.0:0.0	.	109;109;109	Q9HCN6-2;Q9HCN6-3;Q9HCN6	.;.;GPVI_HUMAN	R	109	ENSP00000394922:G109R;ENSP00000308782:G109R;ENSP00000334552:G109R	.	G	-	1	0	GP6	60235319	0.772000	0.28567	0.367000	0.25926	0.008000	0.06430	1.575000	0.36493	2.142000	0.66516	0.549000	0.68633	GGA	.	.		0.622	GP6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357006.1		Missense_Mutation
PTPRH	5794	hgsc.bcm.edu	37	19	55713470	55713470	+	Silent	SNP	C	C	T	rs536291307	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:55713470C>T	ENST00000376350.3	-	6	1129	c.1107G>A	c.(1105-1107)ggG>ggA	p.G369G	PTPRH_ENST00000263434.5_Silent_p.G191G|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	369	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TTCCATTCTTCCCCACCCACA	0.512													C|||	23	0.00459265	0.0	0.0	5008	,	,		20155	0.0		0.0	False		,,,				2504	0.0235				p.G369G		Atlas-SNP	.											PTPRH,colon,carcinoma,0,1	PTPRH	139	.	0			c.G1107A						.						148.0	142.0	144.0					19																	55713470		2203	4300	6503	SO:0001819	synonymous_variant	5794	exon6			ATTCTTCCCCACC		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.1107G>A	chr19.hg19:g.55713470C>T		96.0	1.0		204.0	22.0	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Silent	SNP	ENST00000376350.3	hg19	CCDS33110.1																																																																																			.	.		0.512	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
PTPRH	5794	hgsc.bcm.edu	37	19	55716907	55716907	+	Missense_Mutation	SNP	C	C	A	rs144055741	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:55716907C>A	ENST00000376350.3	-	4	428	c.406G>T	c.(406-408)Gcc>Tcc	p.A136S	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	136	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic process (GO:0006915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CAGGTCAGGGCGATGGAGCTG	0.592																																					p.A136S		Atlas-SNP	.											.	PTPRH	139	.	0			c.G406T						.						106.0	86.0	93.0					19																	55716907		2203	4300	6503	SO:0001583	missense	5794	exon4			TCAGGGCGATGGA		CCDS33110.1, CCDS54321.1	19q13.4	2013-02-11				ENSG00000080031		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9672	protein-coding gene	gene with protein product		602510				8294459	Standard	XM_006723312		Approved	SAP-1	uc002qjq.3	Q9HD43		ENST00000376350.3:c.406G>T	chr19.hg19:g.55716907C>A	ENSP00000365528:p.Ala136Ser	101.0	0.0		233.0	10.0	NM_002842	C9JCH2|Q15426|Q2NKN9|Q2NKP0	Missense_Mutation	SNP	ENST00000376350.3	hg19	CCDS33110.1	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.509536	0.00984	.	.	ENSG00000080031	ENST00000376350	T	0.55413	0.52	4.23	2.09	0.27110	Fibronectin, type III (4);Immunoglobulin-like fold (1);	1.265460	0.06178	N	0.678911	T	0.28764	0.0713	N	0.04162	-0.26	0.29679	N	0.841854	B	0.14438	0.01	B	0.10450	0.005	T	0.26780	-1.0093	10	0.08599	T	0.76	.	9.1546	0.36985	0.0:0.1011:0.0:0.8989	.	136	Q9HD43	PTPRH_HUMAN	S	136	ENSP00000365528:A136S	ENSP00000365528:A136S	A	-	1	0	PTPRH	60408719	0.733000	0.28132	0.086000	0.20670	0.000000	0.00434	0.023000	0.13533	0.177000	0.19895	-2.885000	0.00097	GCC	.	C|1.000;T|0.000		0.592	PTPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452649.1		
ZNF264	9422	hgsc.bcm.edu	37	19	57723567	57723567	+	Nonsense_Mutation	SNP	G	G	T	rs373693955		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:57723567G>T	ENST00000263095.6	+	4	1516	c.1102G>T	c.(1102-1104)Gag>Tag	p.E368*	ZNF264_ENST00000536056.1_Nonsense_Mutation_p.E368*	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	368					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(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TCATACCGGGGAGAAGCCCTA	0.512																																					p.E368X		Atlas-SNP	.											.	ZNF264	65	.	0			c.G1102T						.						78.0	85.0	83.0					19																	57723567		2203	4300	6503	SO:0001587	stop_gained	9422	exon4			ACCGGGGAGAAGC	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1102G>T	chr19.hg19:g.57723567G>T	ENSP00000263095:p.Glu368*	73.0	0.0		181.0	24.0	NM_003417	A8K8Y9|Q9P1V0	Nonsense_Mutation	SNP	ENST00000263095.6	hg19	CCDS33127.1	.	.	.	.	.	.	.	.	.	.	G	37	6.267388	0.97426	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	.	.	.	2.35	0.159	0.14968	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	7.162	0.25669	0.2431:0.0:0.7569:0.0	.	.	.	.	X	368	.	ENSP00000263095:E368X	E	+	1	0	ZNF264	62415379	1.000000	0.71417	0.962000	0.40283	0.648000	0.38561	3.351000	0.52232	0.096000	0.17463	0.491000	0.48974	GAG	.	.		0.512	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
ZNF543	125919	hgsc.bcm.edu	37	19	57840472	57840472	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:57840472T>C	ENST00000321545.4	+	4	1987	c.1642T>C	c.(1642-1644)Tca>Cca	p.S548P		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	548					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(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAATCGCGGCTCATCCCTCAC	0.463																																					p.S548P		Atlas-SNP	.											.	ZNF543	61	.	0			c.T1642C						.						96.0	88.0	91.0					19																	57840472		2203	4300	6503	SO:0001583	missense	125919	exon4			CGCGGCTCATCCC	AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.1642T>C	chr19.hg19:g.57840472T>C	ENSP00000322545:p.Ser548Pro	71.0	0.0		144.0	6.0	NM_213598	Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	ENST00000321545.4	hg19	CCDS33130.1	.	.	.	.	.	.	.	.	.	.	T	8.098	0.775921	0.16051	.	.	ENSG00000178229	ENST00000321545	T	0.32988	1.43	2.87	0.481	0.16809	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50137	0.1598	M	0.79123	2.44	0.09310	N	1	D	0.76494	0.999	D	0.66602	0.945	T	0.36792	-0.9733	9	0.66056	D	0.02	.	8.6472	0.34013	0.0:0.0:0.3628:0.6372	.	548	Q08ER8	ZN543_HUMAN	P	548	ENSP00000322545:S548P	ENSP00000322545:S548P	S	+	1	0	ZNF543	62532284	0.000000	0.05858	0.003000	0.11579	0.016000	0.09150	0.427000	0.21379	-0.088000	0.12506	0.379000	0.24179	TCA	.	.		0.463	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465780.1	XM_064865	
SIRPD	128646	hgsc.bcm.edu	37	20	1532400	1532400	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:1532400A>G	ENST00000381623.3	-	2	1547	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	SIRPD_ENST00000381621.1_Missense_Mutation_p.F120L			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	120	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CCTTTTATGAACTTCACGCAG	0.488																																					p.F120L		Atlas-SNP	.											.	SIRPD	34	.	0			c.T358C						.						149.0	143.0	145.0					20																	1532400		2203	4300	6503	SO:0001583	missense	128646	exon2			TTATGAACTTCAC	AL049634	CCDS13018.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000125900	ENSG00000125900		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16248	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type substrate 1-like 2"""	PTPNS1L2		16339511	Standard	NM_178460		Approved	dJ576H24.4	uc002wfi.3	Q9H106	OTTHUMG00000031674	ENST00000381623.3:c.358T>C	chr20.hg19:g.1532400A>G	ENSP00000371036:p.Phe120Leu	59.0	0.0		161.0	20.0	NM_178460	B3KS88|Q5TFQ6	Missense_Mutation	SNP	ENST00000381623.3	hg19	CCDS13018.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.272461	0.40194	.	.	ENSG00000125900	ENST00000381623;ENST00000381621	T;T	0.64991	-0.13;-0.13	4.02	1.74	0.24563	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.680568	0.12147	N	0.495245	T	0.44973	0.1319	L	0.33753	1.03	0.24203	N	0.995501	P	0.34587	0.458	B	0.29077	0.098	T	0.32188	-0.9916	10	0.59425	D	0.04	.	5.698	0.17867	0.7725:0.0:0.2275:0.0	.	120	Q9H106	SIRPD_HUMAN	L	120	ENSP00000371036:F120L;ENSP00000371034:F120L	ENSP00000371034:F120L	F	-	1	0	SIRPD	1480400	1.000000	0.71417	0.776000	0.31678	0.180000	0.23129	2.564000	0.45931	0.235000	0.21160	-0.394000	0.06481	TTC	.	.		0.488	SIRPD-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077552.1	NM_178460	
ADRA1D	146	hgsc.bcm.edu	37	20	4202228	4202229	+	Missense_Mutation	DNP	GC	GC	TT	rs371559421		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G|C	G|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:4202228_4202229GC>TT	ENST00000379453.4	-	2	1776_1777	c.1660_1661GC>AA	c.(1660-1662)GCc>AAc	p.A554N		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	554				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	CTGGCAGGTGGCGCCCTCGGCC	0.688																																					p.A554D|p.A554T		Atlas-SNP	.											.	ADRA1D	36	.	0			c.C1661A|c.G1660A						.																																			SO:0001583	missense	146	exon2			CAGGTGGCGCCCT|AGGTGGCGCCCTC	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1660_1661delinsTT	chr20.hg19:g.4202228_4202229delinsTT	ENSP00000368766:p.Ala554Asn	43.0	0.0		121.0|119.0	18.0|19.0	NM_000678	Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	hg19	CCDS13079.1																																																																																			.	.		0.688	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	NM_000678	
PLCB4	5332	hgsc.bcm.edu	37	20	9401994	9401994	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:9401994G>T	ENST00000378493.1	+	23	2184	c.2169G>T	c.(2167-2169)gaG>gaT	p.E723D	PLCB4_ENST00000378473.3_Missense_Mutation_p.E735D|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Missense_Mutation_p.E723D|PLCB4_ENST00000278655.4_Missense_Mutation_p.E723D|PLCB4_ENST00000334005.3_Missense_Mutation_p.E723D|PLCB4_ENST00000414679.2_Missense_Mutation_p.E735D			Q15147	PLCB4_HUMAN	phospholipase C, beta 4	723	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)|smooth endoplasmic reticulum (GO:0005790)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTACGTAGAGGTGGATATGT	0.418																																					p.E735D		Atlas-SNP	.											.	PLCB4	204	.	0			c.G2205T						.						116.0	106.0	109.0					20																	9401994		2203	4300	6503	SO:0001583	missense	5332	exon26			CGTAGAGGTGGAT		CCDS13104.1, CCDS13105.1, CCDS54447.1	20p12	2008-03-18			ENSG00000101333	ENSG00000101333	3.1.4.11		9059	protein-coding gene	gene with protein product		600810				8530101	Standard	NM_000933		Approved		uc021wam.1	Q15147	OTTHUMG00000031853	ENST00000378493.1:c.2169G>T	chr20.hg19:g.9401994G>T	ENSP00000367754:p.Glu723Asp	60.0	0.0		153.0	14.0	NM_001172646	B7ZLK6|E2QRH8|Q17R56|Q5JYS8|Q5JYS9|Q5JYT0|Q5JYT3|Q5JYT4|Q9BQW5|Q9BQW6|Q9BQW8|Q9UJQ2	Missense_Mutation	SNP	ENST00000378493.1	hg19	CCDS13105.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605140	0.66445	.	.	ENSG00000101333	ENST00000334005;ENST00000378473;ENST00000278655;ENST00000378493;ENST00000378501;ENST00000414679	T;T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48;-0.48	5.68	2.21	0.28008	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86301	0.5900	H	0.94658	3.565	0.80722	D	1	D;P;D;D	0.89917	1.0;0.913;0.962;0.983	D;P;D;P	0.91635	0.999;0.549;0.957;0.826	D	0.85773	0.1356	10	0.87932	D	0	.	9.7585	0.40517	0.7336:0.0:0.2664:0.0	.	735;570;723;723	E2QRH8;Q15147-2;Q15147;Q15147-4	.;.;PLCB4_HUMAN;.	D	723;735;723;723;723;571	ENSP00000334105:E723D;ENSP00000367734:E735D;ENSP00000278655:E723D;ENSP00000367754:E723D;ENSP00000367762:E723D;ENSP00000390616:E571D	ENSP00000278655:E723D	E	+	3	2	PLCB4	9349994	1.000000	0.71417	0.998000	0.56505	0.926000	0.56050	1.150000	0.31639	0.119000	0.18210	-0.483000	0.04790	GAG	.	.		0.418	PLCB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077948.2		
KIF16B	55614	hgsc.bcm.edu	37	20	16316592	16316592	+	Silent	SNP	T	T	C	rs370943548		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:16316592T>C	ENST00000354981.2	-	24	3847	c.3690A>G	c.(3688-3690)acA>acG	p.T1230T	KIF16B_ENST00000378003.2_Silent_p.T415T|KIF16B_ENST00000355755.3_Intron	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1230	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTAACTTCAATGTTTTATGCA	0.323																																					p.T1230T		Atlas-SNP	.											.	KIF16B	305	.	0			c.A3690G						.	T	,	1,4405	2.1+/-5.4	0,1,2202	124.0	113.0	116.0		3537,3690	-0.3	1.0	20		116	0,8594		0,0,4297	no	coding-synonymous,coding-synonymous	KIF16B	NM_001199865.1,NM_024704.4	,	0,1,6499	CC,CT,TT		0.0,0.0227,0.0077	,	1179/1267,1230/1318	16316592	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	55614	exon24			CTTCAATGTTTTA	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3690A>G	chr20.hg19:g.16316592T>C		64.0	0.0		68.0	34.0	NM_024704	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Silent	SNP	ENST00000354981.2	hg19	CCDS13122.1																																																																																			.	.		0.323	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
CFAP61	26074	hgsc.bcm.edu	37	20	20056165	20056165	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:20056165G>T	ENST00000245957.5	+	6	548	c.472G>T	c.(472-474)Ggg>Tgg	p.G158W	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.G158W|C20orf26_ENST00000377306.1_Missense_Mutation_p.G158W	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		158										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGACCAAGTGGGGAACATCCC	0.423																																					p.G158W		Atlas-SNP	.											.	C20orf26	188	.	0			c.G472T						.						145.0	139.0	141.0					20																	20056165		2203	4300	6503	SO:0001583	missense	26074	exon6			CAAGTGGGGAACA																												ENST00000245957.5:c.472G>T	chr20.hg19:g.20056165G>T	ENSP00000245957:p.Gly158Trp	77.0	0.0		127.0	9.0	NM_015585	A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	ENST00000245957.5	hg19	CCDS33447.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789748	0.70337	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000451767;ENST00000472660	T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44	5.9	5.9	0.94986	.	0.393691	0.26719	N	0.022852	T	0.51991	0.1707	L	0.53249	1.67	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.97;0.992;1.0	T	0.48433	-0.9036	10	0.72032	D	0.01	.	15.7823	0.78269	0.0:0.0:1.0:0.0	.	158;158;112;158	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	W	112;158;158;158;158;158;158;54	ENSP00000345553:G112W;ENSP00000245957:G158W;ENSP00000366521:G158W;ENSP00000366518:G158W;ENSP00000414537:G158W;ENSP00000420498:G54W	ENSP00000245957:G158W	G	+	1	0	C20orf26	20004165	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	2.650000	0.46665	2.806000	0.96561	0.655000	0.94253	GGG	.	.		0.423	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078228.3		
GZF1	64412	hgsc.bcm.edu	37	20	23345190	23345190	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:23345190G>A	ENST00000338121.5	+	2	247	c.170G>A	c.(169-171)aGc>aAc	p.S57N	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.S57N			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	57	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GCTGCCACCAGCAAGTTTTTT	0.488																																					p.S57N		Atlas-SNP	.											.	GZF1	61	.	0			c.G170A						.						74.0	72.0	73.0					20																	23345190		2203	4300	6503	SO:0001583	missense	64412	exon1			CCACCAGCAAGTT	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.170G>A	chr20.hg19:g.23345190G>A	ENSP00000338290:p.Ser57Asn	57.0	0.0		112.0	15.0	NM_022482	A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Missense_Mutation	SNP	ENST00000338121.5	hg19	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	G	29.9	5.042489	0.93685	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	D;D	0.85861	-2.04;-2.04	5.33	5.33	0.75918	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.94324	0.8176	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95447	0.8531	10	0.87932	D	0	.	18.0175	0.89246	0.0:0.0:1.0:0.0	.	57	Q9H116	GZF1_HUMAN	N	57	ENSP00000338290:S57N;ENSP00000366250:S57N	ENSP00000338290:S57N	S	+	2	0	GZF1	23293190	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.790000	0.99075	2.517000	0.84864	0.650000	0.86243	AGC	.	.		0.488	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482	
BPIFA1	51297	hgsc.bcm.edu	37	20	31825552	31825552	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:31825552G>A	ENST00000354297.4	+	2	106	c.35G>A	c.(34-36)gGg>gAg	p.G12E	BPIFA1_ENST00000375422.2_Missense_Mutation_p.G12E|BPIFA1_ENST00000375413.4_Missense_Mutation_p.G12E	NM_130852.2	NP_570913.1	Q9NP55	BPIA1_HUMAN	BPI fold containing family A, member 1	12					antibacterial humoral response (GO:0019731)|innate immune response (GO:0045087)|multicellular organismal water homeostasis (GO:0050891)|negative regulation of single-species biofilm formation in or on host organism (GO:1900229)|regulation of liquid surface tension (GO:0050828)|regulation of sodium ion transmembrane transport (GO:1902305)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	lipid binding (GO:0008289)										GTCTTCTACGGGCTGTTAGCC	0.542																																					p.G12E		Atlas-SNP	.											.	.	.	.	0			c.G35A						.						78.0	77.0	78.0					20																	31825552		2203	4300	6503	SO:0001583	missense	51297	exon2			TCTACGGGCTGTT	AB024937	CCDS13217.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000198183	ENSG00000198183		"""BPI fold containing"""	15749	protein-coding gene	gene with protein product		607412	"""palate, lung and nasal epithelium carcinoma associated"", ""palate, lung and nasal epithelium associated"""	PLUNC		11018263, 11251963, 21787333	Standard	NM_130852		Approved	LUNX, bA49G10.5, SPLUNC1	uc002wyv.3	Q9NP55	OTTHUMG00000032243	ENST00000354297.4:c.35G>A	chr20.hg19:g.31825552G>A	ENSP00000346251:p.Gly12Glu	63.0	0.0		88.0	34.0	NM_016583	A8K9R3|E1P5M9|Q9NZT0	Missense_Mutation	SNP	ENST00000354297.4	hg19	CCDS13217.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.484662	0.44147	.	.	ENSG00000198183	ENST00000375422;ENST00000354297;ENST00000375413;ENST00000544328	T;T;T	0.52057	0.68;0.68;0.68	5.26	4.31	0.51392	.	0.200224	0.35739	N	0.003020	T	0.47783	0.1464	M	0.78801	2.425	0.31295	N	0.689001	P	0.37663	0.604	B	0.35899	0.213	T	0.62882	-0.6760	10	0.87932	D	0	-8.0239	10.1231	0.42632	0.0905:0.0:0.9095:0.0	.	12	Q9NP55	BPIA1_HUMAN	E	12	ENSP00000364571:G12E;ENSP00000346251:G12E;ENSP00000364562:G12E	ENSP00000346251:G12E	G	+	2	0	BPIFA1	31289213	1.000000	0.71417	0.998000	0.56505	0.055000	0.15305	2.710000	0.47169	1.598000	0.50083	-0.150000	0.13652	GGG	.	.		0.542	BPIFA1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078667.2	NM_130852	
TRPC4AP	26133	hgsc.bcm.edu	37	20	33598060	33598060	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:33598060G>C	ENST00000252015.2	-	12	1530	c.1441C>G	c.(1441-1443)Ctg>Gtg	p.L481V	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.L442V|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.L83V|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.L473V			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	481					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AGTTCATTCAGCTCCTGGTTG	0.532																																					p.L481V		Atlas-SNP	.											.	TRPC4AP	64	.	0			c.C1441G						.						234.0	162.0	186.0					20																	33598060		2203	4300	6503	SO:0001583	missense	26133	exon12			CATTCAGCTCCTG	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1441C>G	chr20.hg19:g.33598060G>C	ENSP00000252015:p.Leu481Val	102.0	0.0		241.0	22.0	NM_015638	E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	hg19	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.155652	0.57259	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.67	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.62539	0.2436	M	0.62723	1.935	0.53688	D	0.999975	B;B;B	0.29481	0.245;0.201;0.201	B;B;B	0.35182	0.197;0.138;0.138	T	0.63497	-0.6624	9	0.52906	T	0.07	.	12.8124	0.57647	0.0758:0.0:0.9242:0.0	.	442;473;481	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	V	481;473;83;442;466	.	ENSP00000252015:L481V	L	-	1	2	TRPC4AP	33061721	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.846000	0.62860	1.399000	0.46721	0.555000	0.69702	CTG	.	.		0.532	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638	
RALGAPB	57148	hgsc.bcm.edu	37	20	37154091	37154091	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:37154091G>C	ENST00000262879.6	+	12	2116	c.1832G>C	c.(1831-1833)cGa>cCa	p.R611P	RALGAPB_ENST00000397040.1_Missense_Mutation_p.R611P|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R389P|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R611P			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	611					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R611P(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGAATTGCGAAGATCCTCC	0.328																																					p.R611P		Atlas-SNP	.											RALGAPB,NS,carcinoma,0,1	RALGAPB	134	.	1	Substitution - Missense(1)	lung(1)	c.G1832C						.						133.0	136.0	135.0					20																	37154091		2203	4300	6503	SO:0001583	missense	57148	exon12			AATTGCGAAGATC	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.1832G>C	chr20.hg19:g.37154091G>C	ENSP00000262879:p.Arg611Pro	140.0	0.0		380.0	16.0	NM_020336	A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Missense_Mutation	SNP	ENST00000262879.6	hg19	CCDS13305.1	.	.	.	.	.	.	.	.	.	.	G	32	5.164602	0.94727	.	.	ENSG00000170471	ENST00000262879;ENST00000397042;ENST00000304939;ENST00000397038;ENST00000397040;ENST00000438490	T;T	0.73363	-0.74;-0.74	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	D	0.86138	0.5861	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;0.998	D;D;D;D	0.87578	0.998;0.991;0.997;0.991	D	0.86502	0.1804	10	0.87932	D	0	.	20.0308	0.97536	0.0:0.0:1.0:0.0	.	439;611;611;611	A2A2F0;Q86X10-4;A2A2E9;Q86X10	.;.;.;RLGPB_HUMAN	P	611;611;611;389;611;439	ENSP00000262879:R611P;ENSP00000380233:R611P	ENSP00000262879:R611P	R	+	2	0	RALGAPB	36587505	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.476000	0.97823	2.732000	0.93576	0.585000	0.79938	CGA	.	.		0.328	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336	
ELMO2	63916	hgsc.bcm.edu	37	20	45004003	45004003	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:45004003T>C	ENST00000290246.6	-	13	1131	c.937A>G	c.(937-939)Agg>Ggg	p.R313G	ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000396391.1_Missense_Mutation_p.R313G|ELMO2_ENST00000352077.2_Missense_Mutation_p.R311G|ELMO2_ENST00000454865.2_Missense_Mutation_p.R45G|ELMO2_ENST00000445496.2_Missense_Mutation_p.R130G|ELMO2_ENST00000372176.1_Missense_Mutation_p.R225G|ELMO2_ENST00000439931.2_Missense_Mutation_p.R325G	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	313	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				ATGATGTCCCTTTGAGCCTGC	0.502																																					p.R313G		Atlas-SNP	.											.	ELMO2	51	.	0			c.A937G						.						112.0	78.0	90.0					20																	45004003		2203	4300	6503	SO:0001583	missense	63916	exon12			TGTCCCTTTGAGC	AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.937A>G	chr20.hg19:g.45004003T>C	ENSP00000290246:p.Arg313Gly	71.0	0.0		172.0	15.0	NM_182764	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	ENST00000290246.6	hg19	CCDS13398.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756808	0.69648	.	.	ENSG00000062598	ENST00000290246;ENST00000372176;ENST00000396391;ENST00000439931;ENST00000445496;ENST00000454865;ENST00000352077;ENST00000425546;ENST00000450812	T;T;T;T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.4;1.73	4.81	3.67	0.42095	Terpene synthase-like (1);Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.53642	0.1809	M	0.62723	1.935	0.80722	D	1	P;D;D;D;P	0.67145	0.785;0.996;0.985;0.974;0.943	P;D;P;P;P	0.72625	0.636;0.978;0.83;0.908;0.867	T	0.54214	-0.8327	10	0.66056	D	0.02	-14.8006	10.8249	0.46627	0.0:0.0:0.1588:0.8412	.	325;45;313;130;313	B4DRL5;B4DZ20;E9PBG2;B7Z1S8;Q96JJ3	.;.;.;.;ELMO2_HUMAN	G	313;225;313;325;130;45;311;101;313	ENSP00000290246:R313G;ENSP00000361249:R225G;ENSP00000379673:R313G;ENSP00000396519:R325G;ENSP00000409920:R130G;ENSP00000415641:R45G;ENSP00000326172:R311G;ENSP00000388962:R101G;ENSP00000416181:R313G	ENSP00000290246:R313G	R	-	1	2	ELMO2	44437410	1.000000	0.71417	0.995000	0.50966	0.776000	0.43924	4.964000	0.63701	0.828000	0.34709	0.454000	0.30748	AGG	.	.		0.502	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080466.1	NM_022086	
ATP9A	10079	hgsc.bcm.edu	37	20	50346419	50346419	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:50346419T>A	ENST00000338821.5	-	2	431	c.167A>T	c.(166-168)aAt>aTt	p.N56I	ATP9A_ENST00000402822.1_Missense_Mutation_p.N56I|ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Missense_Mutation_p.N41I	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	56					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTGATGACATTCCGAGGATA	0.547																																					p.N56I		Atlas-SNP	.											.	ATP9A	135	.	0			c.A167T						.						155.0	133.0	140.0					20																	50346419		2203	4300	6503	SO:0001583	missense	10079	exon2			ATGACATTCCGAG	AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.167A>T	chr20.hg19:g.50346419T>A	ENSP00000342481:p.Asn56Ile	55.0	0.0		134.0	12.0	NM_006045	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	ENST00000338821.5	hg19	CCDS33489.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.980823	0.92982	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	D;D;D	0.98762	-5.12;-5.12;-5.12	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98855	0.9613	M	0.85041	2.73	0.33794	D	0.625851	B;P	0.49862	0.054;0.929	B;P	0.54815	0.055;0.761	D	0.99978	1.2344	10	0.87932	D	0	-20.706	15.4675	0.75412	0.0:0.0:0.0:1.0	.	56;56	O75110-2;O75110	.;ATP9A_HUMAN	I	41;56;56	ENSP00000309086:N41I;ENSP00000342481:N56I;ENSP00000385875:N56I	ENSP00000309086:N41I	N	-	2	0	ATP9A	49779826	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.461000	0.80834	2.107000	0.64212	0.460000	0.39030	AAT	.	.		0.547	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106494.1	NM_006045	
BMP7	655	hgsc.bcm.edu	37	20	55840845	55840845	+	Missense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:55840845T>A	ENST00000395863.3	-	1	839	c.334A>T	c.(334-336)Agt>Tgt	p.S112C	RP4-813D12.3_ENST00000412321.1_lincRNA|BMP7_ENST00000395864.3_Missense_Mutation_p.S112C|BMP7_ENST00000450594.2_Missense_Mutation_p.S112C	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	112					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCTGGGTACTGAAGACGGCC	0.647																																					p.S112C		Atlas-SNP	.											.	BMP7	60	.	0			c.A334T						.						24.0	24.0	24.0					20																	55840845		2202	4299	6501	SO:0001583	missense	655	exon1			GGGTACTGAAGAC		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.334A>T	chr20.hg19:g.55840845T>A	ENSP00000379204:p.Ser112Cys	52.0	0.0		112.0	16.0	NM_001719	Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	hg19	CCDS13455.1	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595492	0.46318	.	.	ENSG00000101144	ENST00000395863;ENST00000395864;ENST00000450594	T;T;T	0.68479	-0.33;-0.33;-0.33	5.04	5.04	0.67666	Transforming growth factor-beta, N-terminal (1);	0.090404	0.85682	D	0.000000	T	0.69958	0.3169	L	0.49126	1.545	0.38758	D	0.954257	D;B;B	0.54601	0.967;0.21;0.049	P;B;B	0.51055	0.657;0.057;0.051	T	0.76321	-0.3002	10	0.72032	D	0.01	.	14.7775	0.69740	0.0:0.0:0.0:1.0	.	112;112;112	B1AKZ9;P18075;B1AL00	.;BMP7_HUMAN;.	C	112	ENSP00000379204:S112C;ENSP00000379205:S112C;ENSP00000398687:S112C	ENSP00000379204:S112C	S	-	1	0	BMP7	55274252	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	2.865000	0.48412	1.873000	0.54277	0.402000	0.26972	AGT	.	.		0.647	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2		
STX16	8675	hgsc.bcm.edu	37	20	57246217	57246217	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:57246217C>A	ENST00000371141.4	+	7	1380	c.656C>A	c.(655-657)aCa>aAa	p.T219K	STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.T219K|STX16_ENST00000355957.5_Missense_Mutation_p.T202K|STX16_ENST00000358029.4_Missense_Mutation_p.T215K|STX16_ENST00000371132.4_Missense_Mutation_p.T198K|STX16_ENST00000361830.3_Missense_Mutation_p.T219K|STX16_ENST00000361770.5_Missense_Mutation_p.T202K|STX16_ENST00000359617.4_Missense_Mutation_p.T166K|STX16_ENST00000496003.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	219					intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TAGGGTTTTACAGAGGACCAG	0.418																																					p.T219K		Atlas-SNP	.											.	STX16	36	.	0			c.C656A						.						100.0	96.0	98.0					20																	57246217		2203	4300	6503	SO:0001583	missense	8675	exon7			GTTTTACAGAGGA	AF038897	CCDS13468.1, CCDS13469.1, CCDS46619.1, CCDS46620.1, CCDS56199.1	20q13.32	2008-07-02			ENSG00000124222	ENSG00000124222			11431	protein-coding gene	gene with protein product		603666				9464276, 9587053, 15800843	Standard	NM_003763		Approved	hsyn16, SYN16	uc002xzi.3	O14662	OTTHUMG00000033084	ENST00000371141.4:c.656C>A	chr20.hg19:g.57246217C>A	ENSP00000360183:p.Thr219Lys	55.0	0.0		125.0	6.0	NM_001001433	A6NK32|A6NN69|A8MPP0|B7ZBN1|B7ZBN2|B7ZBN3|E1P5M0|E1P607|O14661|O14663|O60517|Q5W084|Q5W086|Q5W087|Q5XKI6|Q6GMS8|Q9H0Z0|Q9H1T7|Q9H1T8|Q9UIX5	Missense_Mutation	SNP	ENST00000371141.4	hg19	CCDS13468.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254460	0.80135	.	.	ENSG00000124222	ENST00000355957;ENST00000361770;ENST00000312283;ENST00000359617;ENST00000371141;ENST00000371138;ENST00000371132;ENST00000358029;ENST00000361830;ENST00000435446	T;T;T;T;T;T;T;T	0.42900	1.96;1.96;0.96;1.96;1.96;1.96;1.96;1.96	5.69	5.69	0.88448	t-SNARE (1);	0.000000	0.85682	U	0.000000	T	0.61986	0.2391	M	0.74881	2.28	0.80722	D	1	D;P;P;P	0.58970	0.984;0.929;0.894;0.76	P;P;P;B	0.59221	0.854;0.614;0.517;0.443	T	0.58662	-0.7597	10	0.34782	T	0.22	.	18.8116	0.92059	0.0:1.0:0.0:0.0	.	215;202;198;219	Q6GMS8;O14662-4;O14662-2;O14662	.;.;.;STX16_HUMAN	K	202;202;166;166;219;166;198;215;219;33	ENSP00000348229:T202K;ENSP00000355408:T202K;ENSP00000312086:T166K;ENSP00000352634:T166K;ENSP00000360183:T219K;ENSP00000360173:T198K;ENSP00000350723:T215K;ENSP00000354445:T219K	ENSP00000360180:T166K	T	+	2	0	STX16	56679623	1.000000	0.71417	0.248000	0.24265	0.477000	0.33069	7.487000	0.81328	2.674000	0.91012	0.650000	0.86243	ACA	.	.		0.418	STX16-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080517.2	NM_001001433	
CDH26	60437	hgsc.bcm.edu	37	20	58560154	58560154	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:58560154C>A	ENST00000244047.5	+	7	1118	c.807C>A	c.(805-807)aaC>aaA	p.N269K	CDH26_ENST00000348616.4_Missense_Mutation_p.N269K			Q8IXH8	CAD26_HUMAN	cadherin 26	269	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			AAGAAGGCAACAACCACAGGC	0.557																																					p.N269K		Atlas-SNP	.											.	CDH26	229	.	0			c.C807A						.						60.0	53.0	55.0					20																	58560154		2203	4300	6503	SO:0001583	missense	60437	exon7			AGGCAACAACCAC	AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.807C>A	chr20.hg19:g.58560154C>A	ENSP00000244047:p.Asn269Lys	16.0	0.0		68.0	9.0	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	hg19		.	.	.	.	.	.	.	.	.	.	C	11.55	1.672713	0.29693	.	.	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.75477	-0.94;-0.94	4.44	2.46	0.29980	.	0.103168	0.64402	D	0.000005	D	0.89269	0.6667	H	0.98005	4.125	0.23572	N	0.997382	D	0.89917	1.0	D	0.97110	1.0	T	0.80365	-0.1413	10	0.87932	D	0	.	7.0596	0.25119	0.0:0.7294:0.1739:0.0967	.	269	Q8IXH8-4	.	K	269	ENSP00000244047:N269K;ENSP00000339390:N269K	ENSP00000244047:N269K	N	+	3	2	CDH26	57993549	1.000000	0.71417	0.004000	0.12327	0.035000	0.12851	1.796000	0.38794	0.316000	0.23135	0.591000	0.81541	AAC	.	.		0.557	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
YTHDF1	54915	hgsc.bcm.edu	37	20	61835099	61835099	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:61835099C>G	ENST00000370339.3	-	4	534	c.193G>C	c.(193-195)Gga>Cga	p.G65R	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.G15R	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	65							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TAAGGAAATCCAATGGACGGC	0.522																																					p.G65R		Atlas-SNP	.											.	YTHDF1	66	.	0			c.G193C						.						80.0	88.0	85.0					20																	61835099		2203	4300	6503	SO:0001583	missense	54915	exon4			GAAATCCAATGGA	AK000398	CCDS13511.1	20q13.33	2010-03-15	2004-11-16	2004-06-04	ENSG00000149658	ENSG00000149658			15867	protein-coding gene	gene with protein product			"""YTH domain family 1"""	C20orf21			Standard	NM_017798		Approved	FLJ20391	uc002yeh.3	Q9BYJ9	OTTHUMG00000032955	ENST00000370339.3:c.193G>C	chr20.hg19:g.61835099C>G	ENSP00000359364:p.Gly65Arg	32.0	0.0		84.0	26.0	NM_017798	Q8N3G5|Q8TBT1|Q96AN4|Q96S57|Q9BTI7|Q9NX79	Missense_Mutation	SNP	ENST00000370339.3	hg19	CCDS13511.1	.	.	.	.	.	.	.	.	.	.	C	18.50	3.637695	0.67130	.	.	ENSG00000149658	ENST00000370339;ENST00000370333	T;T	0.58940	0.3;0.3	5.24	5.24	0.73138	.	0.049657	0.85682	D	0.000000	T	0.68833	0.3044	M	0.68317	2.08	0.80722	D	1	D	0.55385	0.971	P	0.57468	0.821	T	0.71234	-0.4653	10	0.56958	D	0.05	-8.2765	13.1667	0.59575	0.0:0.9237:0.0:0.0763	.	65	Q9BYJ9	YTHD1_HUMAN	R	65;15	ENSP00000359364:G65R;ENSP00000359358:G15R	ENSP00000359358:G15R	G	-	1	0	YTHDF1	61305544	1.000000	0.71417	0.991000	0.47740	0.945000	0.59286	4.873000	0.63057	2.448000	0.82819	0.561000	0.74099	GGA	.	.		0.522	YTHDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080110.2	NM_017798	
NPBWR2	2832	hgsc.bcm.edu	37	20	62737266	62737266	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:62737266C>T	ENST00000369768.1	-	1	1258	c.919G>A	c.(919-921)Gcc>Acc	p.A307T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	307					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACGAGTTGGCGTAGCTGAGG	0.597																																					p.A307T		Atlas-SNP	.											.	NPBWR2	36	.	0			c.G919A						.						197.0	132.0	154.0					20																	62737266		2202	4298	6500	SO:0001583	missense	2832	exon1			AGTTGGCGTAGCT	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.919G>A	chr20.hg19:g.62737266C>T	ENSP00000358783:p.Ala307Thr	31.0	0.0		89.0	11.0	NM_005286	Q6NWQ6|Q9H4K3	Missense_Mutation	SNP	ENST00000369768.1	hg19	CCDS13557.1	.	.	.	.	.	.	.	.	.	.	C	6.535	0.467050	0.12402	.	.	ENSG00000125522	ENST00000369768	T	0.37915	1.17	3.43	0.189	0.15119	GPCR, rhodopsin-like superfamily (1);	0.224693	0.35262	N	0.003338	T	0.19525	0.0469	L	0.33137	0.985	0.39667	D	0.970707	B	0.29766	0.256	B	0.26310	0.068	T	0.18366	-1.0339	10	0.06236	T	0.91	.	9.5523	0.39317	0.0:0.7615:0.0:0.2385	.	307	P48146	NPBW2_HUMAN	T	307	ENSP00000358783:A307T	ENSP00000358783:A307T	A	-	1	0	NPBWR2	62207710	0.975000	0.34042	0.272000	0.24630	0.688000	0.40055	1.370000	0.34238	0.104000	0.17725	0.491000	0.48974	GCC	.	.		0.597	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286	
KRTAP13-2	337959	hgsc.bcm.edu	37	21	31744410	31744410	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:31744410C>A	ENST00000399889.2	-	1	147	c.122G>T	c.(121-123)tGc>tTc	p.C41F		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	41						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						GCTGGGAGAGCAGAGGTCAGT	0.597																																					p.C41F		Atlas-SNP	.											.	KRTAP13-2	29	.	0			c.G122T						.						86.0	82.0	83.0					21																	31744410		2203	4300	6503	SO:0001583	missense	337959	exon1			GGAGAGCAGAGGT	AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.122G>T	chr21.hg19:g.31744410C>A	ENSP00000382777:p.Cys41Phe	73.0	0.0		158.0	10.0	NM_181621		Missense_Mutation	SNP	ENST00000399889.2	hg19	CCDS13589.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.181048	0.38511	.	.	ENSG00000182816	ENST00000399889	T	0.04454	3.62	4.51	2.16	0.27623	.	1.394900	0.05165	N	0.498547	T	0.16428	0.0395	M	0.72118	2.19	0.09310	N	1	P	0.48911	0.917	P	0.56700	0.804	T	0.14117	-1.0484	10	0.72032	D	0.01	.	7.6607	0.28402	0.0:0.816:0.0:0.184	.	41	Q52LG2	KR132_HUMAN	F	41	ENSP00000382777:C41F	ENSP00000382777:C41F	C	-	2	0	KRTAP13-2	30666281	0.000000	0.05858	0.001000	0.08648	0.979000	0.70002	-0.339000	0.07832	0.305000	0.22832	0.655000	0.94253	TGC	.	.		0.597	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128245.1		
KRTAP22-1	337979	hgsc.bcm.edu	37	21	31973499	31973499	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:31973499C>A	ENST00000334680.2	+	1	86	c.60C>A	c.(58-60)tgC>tgA	p.C20*	KRTAP6-2_ENST00000334897.3_5'Flank	NM_181620.1	NP_853651.1	Q3MIV0	KR221_HUMAN	keratin associated protein 22-1	20						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						GCCTGGGCTGCAGCTATGGCT	0.483																																					p.C20X		Atlas-SNP	.											.	KRTAP22-1	16	.	0			c.C60A						.						183.0	168.0	173.0					21																	31973499		2203	4300	6503	SO:0001587	stop_gained	337979	exon1			GGGCTGCAGCTAT	AP001708	CCDS13601.1	21q22.1	2011-02-10			ENSG00000186924	ENSG00000186924		"""Keratin associated proteins"""	18947	protein-coding gene	gene with protein product						12359730	Standard	NM_181620		Approved	KAP22.1	uc011add.2	Q3MIV0	OTTHUMG00000057778	ENST00000334680.2:c.60C>A	chr21.hg19:g.31973499C>A	ENSP00000333887:p.Cys20*	97.0	0.0		184.0	60.0	NM_181620		Nonsense_Mutation	SNP	ENST00000334680.2	hg19	CCDS13601.1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.498753	0.44455	.	.	ENSG00000186924	ENST00000334680	.	.	.	4.8	3.65	0.41850	.	0.867451	0.09695	N	0.767763	.	.	.	.	.	.	0.30745	N	0.745793	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	6.7665	0.23571	0.0:0.1091:0.0:0.8909	.	.	.	.	X	20	.	ENSP00000333887:C20X	C	+	3	2	KRTAP22-1	30895370	0.041000	0.20044	0.019000	0.16419	0.035000	0.12851	0.244000	0.18124	0.973000	0.38340	-0.373000	0.07131	TGC	.	.		0.483	KRTAP22-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128230.2		
HUNK	30811	hgsc.bcm.edu	37	21	33296847	33296847	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:33296847G>A	ENST00000270112.2	+	2	689	c.329G>A	c.(328-330)cGa>cAa	p.R110Q		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	110	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AACCTGCGGCGAGAGGGTCAG	0.463																																					p.R110Q		Atlas-SNP	.											.	HUNK	74	.	0			c.G329A						.						58.0	54.0	55.0					21																	33296847		2203	4300	6503	SO:0001583	missense	30811	exon2			TGCGGCGAGAGGG	AJ271722	CCDS13610.1	21q22.1	2008-06-05	2008-06-05		ENSG00000142149	ENSG00000142149			13326	protein-coding gene	gene with protein product		606532	"""hormonally upregulated Neu-associated kinase"""			10662544, 10830953	Standard	NM_014586		Approved		uc002yph.3	P57058	OTTHUMG00000085019	ENST00000270112.2:c.329G>A	chr21.hg19:g.33296847G>A	ENSP00000270112:p.Arg110Gln	52.0	0.0		134.0	19.0	NM_014586		Missense_Mutation	SNP	ENST00000270112.2	hg19	CCDS13610.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.573179	0.86542	.	.	ENSG00000142149	ENST00000270112	T	0.27890	1.64	4.86	4.86	0.63082	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.067411	0.64402	D	0.000017	T	0.52773	0.1755	L	0.55017	1.72	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.55496	-0.8132	10	0.87932	D	0	-5.5714	18.1961	0.89822	0.0:0.0:1.0:0.0	.	110	P57058	HUNK_HUMAN	Q	110	ENSP00000270112:R110Q	ENSP00000270112:R110Q	R	+	2	0	HUNK	32218718	1.000000	0.71417	0.996000	0.52242	0.534000	0.34807	9.205000	0.95048	2.513000	0.84729	0.650000	0.86243	CGA	.	.		0.463	HUNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192782.1	NM_014586	
SON	6651	hgsc.bcm.edu	37	21	34925206	34925206	+	Silent	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:34925206T>A	ENST00000356577.4	+	3	4144	c.3669T>A	c.(3667-3669)ccT>ccA	p.P1223P	SON_ENST00000290239.6_Silent_p.P1223P|SON_ENST00000300278.4_Silent_p.P1223P|SON_ENST00000381679.4_Silent_p.P1223P|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1223					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TTTCGGAGCCTTCAGCAGTGC	0.493																																					p.P1223P		Atlas-SNP	.											.	SON	343	.	0			c.T3669A						.						153.0	156.0	155.0					21																	34925206		2203	4300	6503	SO:0001819	synonymous_variant	6651	exon3			GGAGCCTTCAGCA	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3669T>A	chr21.hg19:g.34925206T>A		88.0	0.0		164.0	69.0	NM_032195	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Silent	SNP	ENST00000356577.4	hg19	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	T	5.392	0.257602	0.10239	.	.	ENSG00000159140	ENST00000436227	.	.	.	5.42	4.25	0.50352	.	.	.	.	.	T	0.55016	0.1894	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	.	5.6107	0.17404	0.0:0.0869:0.1746:0.7385	.	.	.	.	H	218	.	.	L	+	2	0	SON	33847076	0.879000	0.30193	0.882000	0.34594	0.509000	0.34042	1.139000	0.31504	0.875000	0.35847	0.460000	0.39030	CTT	.	.		0.493	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
TTC3	7267	hgsc.bcm.edu	37	21	38538901	38538901	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:38538901A>G	ENST00000399017.2	+	33	7132	c.4385A>G	c.(4384-4386)cAg>cGg	p.Q1462R	TTC3_ENST00000355666.1_Missense_Mutation_p.Q1462R|TTC3_ENST00000354749.2_Missense_Mutation_p.Q1462R|TTC3_ENST00000479930.1_3'UTR	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1462					negative regulation of cell morphogenesis involved in differentiation (GO:0010771)|negative regulation of neuron differentiation (GO:0045665)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|vacuole (GO:0005773)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CCACACGTGCAGATGGTTGCC	0.348																																					p.Q1462R	Ovarian(38;194 1649 35661)	Atlas-SNP	.											.	TTC3	182	.	0			c.A4385G						.						40.0	38.0	38.0					21																	38538901		2203	4300	6503	SO:0001583	missense	7267	exon33			ACGTGCAGATGGT	D84296	CCDS13651.1	21q22.2	2013-01-11			ENSG00000182670	ENSG00000182670		"""RING-type (C3HC4) zinc fingers"", ""Tetratricopeptide (TTC) repeat domain containing"""	12393	protein-coding gene	gene with protein product		602259				8947847	Standard	NM_003316		Approved	TPRD, TPRDI, DCRR1, TPRDII, TPRDIII, RNF105	uc002yvz.3	P53804	OTTHUMG00000086654	ENST00000399017.2:c.4385A>G	chr21.hg19:g.38538901A>G	ENSP00000381981:p.Gln1462Arg	85.0	0.0		228.0	22.0	NM_001001894	A8K7H7|B2RPA7|D3DSG9|D3DSH2|D3DSH3|O60767|P78476|P78477|Q569I2|Q6P578|Q9UEK4	Missense_Mutation	SNP	ENST00000399017.2	hg19	CCDS13651.1	.	.	.	.	.	.	.	.	.	.	A	3.781	-0.045728	0.07452	.	.	ENSG00000182670	ENST00000355666;ENST00000399017;ENST00000354749	T;T;T	0.07800	3.16;3.16;3.16	4.96	2.15	0.27550	.	0.452951	0.20187	N	0.097386	T	0.04092	0.0114	L	0.31065	0.9	0.09310	N	0.999997	B;P	0.35433	0.201;0.501	B;B	0.25140	0.032;0.058	T	0.36915	-0.9728	9	.	.	.	-3.6352	2.6852	0.05105	0.5413:0.2717:0.187:0.0	.	520;1462	Q5GIT6;P53804	.;TTC3_HUMAN	R	1462	ENSP00000347889:Q1462R;ENSP00000381981:Q1462R;ENSP00000346791:Q1462R	.	Q	+	2	0	TTC3	37460771	0.002000	0.14202	0.010000	0.14722	0.142000	0.21351	1.121000	0.31283	0.796000	0.33947	0.460000	0.39030	CAG	.	.		0.348	TTC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194776.1		
RRP1B	23076	hgsc.bcm.edu	37	21	45094517	45094517	+	Splice_Site	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:45094517C>A	ENST00000340648.4	+	5	475	c.358C>A	c.(358-360)Ctg>Atg	p.L120M		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	120					negative regulation of phosphatase activity (GO:0010923)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleolus (GO:0005730)|nucleus (GO:0005634)|preribosome, small subunit precursor (GO:0030688)	poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CTTTCTTTAGCTGATTCGTCT	0.353																																					p.L120M		Atlas-SNP	.											.	RRP1B	51	.	0			c.C358A						.						78.0	71.0	73.0					21																	45094517		2203	4300	6503	SO:0001630	splice_region_variant	23076	exon5			CTTTAGCTGATTC	AK124620	CCDS33577.1	21q22.3	2014-06-13	2013-07-02	2007-03-26	ENSG00000160208	ENSG00000160208			23818	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 136"""	610654	"""KIAA0179"", ""ribosomal RNA processing 1 homolog B (S. cerevisiae)"""	KIAA0179			Standard	NM_015056		Approved	Nnp1, RRP1, PPP1R136	uc002zdk.3	Q14684	OTTHUMG00000086872	ENST00000340648.4:c.358-1C>A	chr21.hg19:g.45094517C>A		54.0	0.0		144.0	9.0	NM_015056	Q8TBZ4	Missense_Mutation	SNP	ENST00000340648.4	hg19	CCDS33577.1	.	.	.	.	.	.	.	.	.	.	C	12.92	2.083221	0.36758	.	.	ENSG00000160208	ENST00000340648	T	0.64991	-0.13	5.53	3.33	0.38152	.	0.069267	0.56097	D	0.000021	D	0.82426	0.5034	H	0.96604	3.85	0.53005	D	0.999964	D	0.89917	1.0	D	0.97110	1.0	T	0.82973	-0.0191	9	.	.	.	-9.1608	5.382	0.16196	0.0:0.6875:0.0:0.3124	.	120	Q14684	RRP1B_HUMAN	M	120	ENSP00000339145:L120M	.	L	+	1	2	RRP1B	43918945	1.000000	0.71417	0.993000	0.49108	0.114000	0.19823	1.046000	0.30354	1.466000	0.48025	0.650000	0.86243	CTG	.	.		0.353	RRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195651.1	NM_015056	Missense_Mutation
KRTAP10-1	386677	hgsc.bcm.edu	37	21	45959615	45959615	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:45959615G>T	ENST00000400375.1	-	1	463	c.419C>A	c.(418-420)tCc>tAc	p.S140Y	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	140	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S140Y(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CACACAGCAGGACTGCTGGCT	0.582																																					p.S140Y		Atlas-SNP	.											KRTAP10-1,NS,carcinoma,0,1	KRTAP10-1	34	.	1	Substitution - Missense(1)	endometrium(1)	c.C419A						.						120.0	124.0	122.0					21																	45959615		2203	4300	6503	SO:0001583	missense	386677	exon1			CAGCAGGACTGCT	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.419C>A	chr21.hg19:g.45959615G>T	ENSP00000383226:p.Ser140Tyr	114.0	0.0		171.0	11.0	NM_198691	Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	hg19	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	0.020	-1.447605	0.01089	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.01838	4.61	2.39	1.44	0.22558	.	.	.	.	.	T	0.04137	0.0115	M	0.79805	2.47	0.21290	N	0.999737	B	0.25667	0.131	B	0.29862	0.108	T	0.36986	-0.9725	9	0.54805	T	0.06	.	2.9769	0.05941	0.1584:0.0:0.5692:0.2723	.	140	P60331	KR101_HUMAN	Y	140	ENSP00000383226:S140Y	ENSP00000383226:S140Y	S	-	2	0	KRTAP10-1	44784043	0.027000	0.19231	0.537000	0.28052	0.117000	0.20001	0.093000	0.15086	0.308000	0.22923	0.194000	0.17425	TCC	.	.		0.582	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1		
KRTAP10-1	386677	hgsc.bcm.edu	37	21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711																																					p.T72I		Atlas-SNP	.											KRTAP10-1,NS,carcinoma,0,1	KRTAP10-1	34	.	0			c.C215T						.						44.0	51.0	49.0					21																	45959819		2197	4290	6487	SO:0001583	missense	386677	exon1			GAGCTGGTGCAGC	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.215C>T	chr21.hg19:g.45959819G>A	ENSP00000383226:p.Thr72Ile	48.0	0.0		40.0	3.0	NM_198691	Q0VAR0|Q0VAR1	Missense_Mutation	SNP	ENST00000400375.1	hg19	CCDS42954.1	.	.	.	.	.	.	.	.	.	.	g	2.677	-0.276175	0.05679	.	.	ENSG00000215455	ENST00000400375;ENST00000545982	T	0.00856	5.61	2.87	0.849	0.18972	.	.	.	.	.	T	0.02571	0.0078	M	0.73962	2.25	0.09310	N	1	P	0.50369	0.934	P	0.50314	0.637	T	0.35748	-0.9776	9	0.66056	D	0.02	.	9.5849	0.39510	0.0:0.4182:0.5818:0.0	.	72	P60331	KR101_HUMAN	I	72	ENSP00000383226:T72I	ENSP00000383226:T72I	T	-	2	0	KRTAP10-1	44784247	0.000000	0.05858	0.165000	0.22776	0.527000	0.34593	-0.068000	0.11561	0.064000	0.16427	0.491000	0.48974	ACC	.	.		0.711	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1		
SCARF2	91179	hgsc.bcm.edu	37	22	20784723	20784723	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:20784723C>T	ENST00000266214.5	-	6	1299	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	SCARF2_ENST00000405555.3_Missense_Mutation_p.G399R	NM_153334.4	NP_699165.2	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	399	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CACTGGGGCCCGTGGACGCCA	0.716																																					p.G399R		Atlas-SNP	.											.	SCARF2	23	.	0			c.G1195A						.						6.0	7.0	7.0					22																	20784723		2139	4207	6346	SO:0001583	missense	91179	exon6			GGGGCCCGTGGAC	AF522196	CCDS13779.1, CCDS46666.1	22q11.21	2011-10-10			ENSG00000244486	ENSG00000244486			19869	protein-coding gene	gene with protein product		613619				12154095	Standard	XM_006724364		Approved	SREC-II, SREC2, HUMZD58C02	uc002zsk.2	Q96GP6	OTTHUMG00000150779	ENST00000266214.5:c.1195G>A	chr22.hg19:g.20784723C>T	ENSP00000266214:p.Gly399Arg	13.0	0.0		24.0	8.0	NM_182895	E5RFB8|Q58A83|Q8IXF3|Q9BW74	Missense_Mutation	SNP	ENST00000266214.5	hg19	CCDS13779.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.556727	0.86231	.	.	ENSG00000244486	ENST00000405555;ENST00000341328;ENST00000266214	T;T	0.72394	-0.65;-0.65	4.45	4.45	0.53987	EGF-like region, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85718	0.1323	10	0.87932	D	0	-21.5452	14.9433	0.71012	0.0:1.0:0.0:0.0	.	399;399	E5RFB8;Q96GP6	.;SREC2_HUMAN	R	399	ENSP00000385589:G399R;ENSP00000266214:G399R	ENSP00000266214:G399R	G	-	1	0	SCARF2	19114723	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.737000	0.74816	2.188000	0.69820	0.561000	0.74099	GGG	.	.		0.716	SCARF2-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320047.1		
SEZ6L	23544	hgsc.bcm.edu	37	22	26688528	26688528	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:26688528T>C	ENST00000248933.6	+	2	346	c.251T>C	c.(250-252)gTg>gCg	p.V84A	SEZ6L_ENST00000343706.4_Missense_Mutation_p.V84A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.V84A|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000529632.2_Missense_Mutation_p.V84A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.V84A			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	84					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCGAGCTGGTGCTGGATGGG	0.657																																					p.V84A		Atlas-SNP	.											.	SEZ6L	174	.	0			c.T251C						.						62.0	52.0	56.0					22																	26688528		2203	4300	6503	SO:0001583	missense	23544	exon2			AGCTGGTGCTGGA	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.251T>C	chr22.hg19:g.26688528T>C	ENSP00000248933:p.Val84Ala	31.0	0.0		67.0	10.0	NM_001184777	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	hg19	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	A	10.21	1.288511	0.23478	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	4.15	-3.41	0.04839	.	1.150010	0.06840	N	0.795474	T	0.12774	0.0310	N	0.08118	0	0.09310	N	0.999999	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0;0.0	T	0.31223	-0.9951	10	0.16420	T	0.52	.	6.1891	0.20513	0.1777:0.615:0.0948:0.1125	.	84;84;84;84;84;84	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	A	84	ENSP00000384772:V84A;ENSP00000437037:V84A;ENSP00000354185:V84A;ENSP00000248933:V84A;ENSP00000342661:V84A	ENSP00000248933:V84A	V	+	2	0	SEZ6L	25018528	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.020000	0.12525	-0.792000	0.04480	-0.455000	0.05494	GTG	.	.		0.657	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3		
NF2	4771	hgsc.bcm.edu	37	22	30069414	30069414	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:30069414G>T	ENST00000338641.4	+	12	1720	c.1279G>T	c.(1279-1281)Gag>Tag	p.E427*	NF2_ENST00000353887.4_Nonsense_Mutation_p.E344*|NF2_ENST00000361452.4_Nonsense_Mutation_p.E386*|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Nonsense_Mutation_p.E427*|NF2_ENST00000361166.4_Nonsense_Mutation_p.E427*|NF2_ENST00000403999.3_Nonsense_Mutation_p.E427*|NF2_ENST00000361676.4_Nonsense_Mutation_p.E385*|NF2_ENST00000403435.1_Nonsense_Mutation_p.E398*|NF2_ENST00000334961.7_Nonsense_Mutation_p.E344*	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	427	Glu-rich.				actin cytoskeleton organization (GO:0030036)|cell-cell junction organization (GO:0045216)|ectoderm development (GO:0007398)|hippocampus development (GO:0021766)|lens fiber cell differentiation (GO:0070306)|mesoderm formation (GO:0001707)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of DNA replication (GO:0008156)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of cell differentiation (GO:0045597)|positive regulation of stress fiber assembly (GO:0051496)|regulation of hippo signaling (GO:0035330)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of protein localization to nucleus (GO:1900180)|regulation of protein stability (GO:0031647)|Schwann cell proliferation (GO:0014010)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|cleavage furrow (GO:0032154)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|early endosome (GO:0005769)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)		p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						GCGCCTGATGGAGCAGAAGGT	0.632			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2																												p.E427X		Atlas-SNP	.	yes	Rec	yes	Neurofibromatosis type 2	22	22q12.2	4771	neurofibromatosis type 2 gene		O	.	NF2	1312	.	3	Unknown(3)	large_intestine(1)|stomach(1)|central_nervous_system(1)	c.G1279T	GRCh37	CM002818	NF2	M		.						53.0	46.0	48.0					22																	30069414		2203	4300	6503	SO:0001587	stop_gained	4771	exon12	Familial Cancer Database	NF2, Central Neurofibromatosis, Bilateral Acoustic Neurofibromatosis	CTGATGGAGCAGA	L11353	CCDS13861.1, CCDS13862.1, CCDS13863.1, CCDS13864.1, CCDS13865.1, CCDS54516.1	22q12.2	2014-09-17	2007-12-17		ENSG00000186575	ENSG00000186575		"""A-kinase anchor proteins"""	7773	protein-coding gene	gene with protein product	"""moesin-ezrin-radixin like"", ""schwannomin"""	607379	"""neurofibromin 2 (bilateral acoustic neuroma)"""			10591208	Standard	NM_000268		Approved	merlin	uc003age.4	P35240	OTTHUMG00000030727	ENST00000338641.4:c.1279G>T	chr22.hg19:g.30069414G>T	ENSP00000344666:p.Glu427*	45.0	0.0		123.0	7.0	NM_000268	O95683|Q8WUJ2|Q969N0|Q969Q3|Q96T30|Q96T31|Q96T32|Q96T33|Q9BTW3|Q9UNG9|Q9UNH3|Q9UNH4	Nonsense_Mutation	SNP	ENST00000338641.4	hg19	CCDS13861.1	.	.	.	.	.	.	.	.	.	.	G	42	9.416160	0.99164	.	.	ENSG00000186575	ENST00000338641;ENST00000403435;ENST00000361452;ENST00000397822;ENST00000403999;ENST00000334961;ENST00000353887;ENST00000397789;ENST00000361676;ENST00000361166	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2159	0.98296	0.0:0.0:1.0:0.0	.	.	.	.	X	427;398;386;402;427;344;344;427;385;427	.	.	E	+	1	0	NF2	28399414	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.848000	0.99507	2.882000	0.98803	0.655000	0.94253	GAG	.	.		0.632	NF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075615.3	NM_000268	
PLA2G3	50487	hgsc.bcm.edu	37	22	31533849	31533849	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:31533849T>A	ENST00000215885.3	-	4	1165	c.913A>T	c.(913-915)Aag>Tag	p.K305*		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	305					acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						AGGTGCTGCTTCTGTCGAGGC	0.652																																					p.K305X		Atlas-SNP	.											.	PLA2G3	85	.	0			c.A913T						.						82.0	94.0	90.0					22																	31533849		2203	4300	6503	SO:0001587	stop_gained	50487	exon4			GCTGCTTCTGTCG	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.913A>T	chr22.hg19:g.31533849T>A	ENSP00000215885:p.Lys305*	83.0	0.0		209.0	23.0	NM_015715	O95768	Nonsense_Mutation	SNP	ENST00000215885.3	hg19	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	T	25.2	4.612473	0.87258	.	.	ENSG00000100078	ENST00000215885	.	.	.	3.68	1.48	0.22813	.	0.904173	0.09678	N	0.770218	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.9249	4.5179	0.11945	0.0:0.1107:0.3999:0.4894	.	.	.	.	X	305	.	ENSP00000215885:K305X	K	-	1	0	PLA2G3	29863849	0.001000	0.12720	0.006000	0.13384	0.023000	0.10783	0.169000	0.16641	0.257000	0.21650	0.533000	0.62120	AAG	.	.		0.652	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	
PLA2G3	50487	hgsc.bcm.edu	37	22	31534717	31534717	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:31534717G>T	ENST00000215885.3	-	2	835	c.583C>A	c.(583-585)Cag>Aag	p.Q195K		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	195	Phospholipase A2-like.				acrosome assembly (GO:0001675)|cilium morphogenesis (GO:0060271)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lipoxygenase pathway (GO:0019372)|mast cell degranulation (GO:0043303)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|sperm axoneme assembly (GO:0007288)	centriole (GO:0005814)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TAGTTGTACTGCAAGGGTGAG	0.597																																					p.Q195K		Atlas-SNP	.											.	PLA2G3	85	.	0			c.C583A						.						309.0	240.0	263.0					22																	31534717		2203	4300	6503	SO:0001583	missense	50487	exon2			TGTACTGCAAGGG	AF220490	CCDS13889.1	22q12.2	2008-09-19			ENSG00000100078	ENSG00000100078	3.1.1.4		17934	protein-coding gene	gene with protein product		611651				10713052	Standard	NM_015715		Approved	GIII-SPLA2	uc003aka.3	Q9NZ20	OTTHUMG00000151255	ENST00000215885.3:c.583C>A	chr22.hg19:g.31534717G>T	ENSP00000215885:p.Gln195Lys	133.0	0.0		311.0	16.0	NM_015715	O95768	Missense_Mutation	SNP	ENST00000215885.3	hg19	CCDS13889.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491740	0.64074	.	.	ENSG00000100078	ENST00000215885	T	0.29142	1.58	5.41	4.35	0.52113	Phospholipase A2 (3);	0.370207	0.28871	N	0.013866	T	0.34366	0.0895	L	0.55990	1.75	0.32021	N	0.60077	P	0.47677	0.899	P	0.45610	0.487	T	0.49000	-0.8984	10	0.56958	D	0.05	-17.6393	12.855	0.57880	0.0:0.2879:0.7121:0.0	.	195	Q9NZ20	PA2G3_HUMAN	K	195	ENSP00000215885:Q195K	ENSP00000215885:Q195K	Q	-	1	0	PLA2G3	29864717	1.000000	0.71417	0.998000	0.56505	0.870000	0.49936	1.665000	0.37449	2.546000	0.85860	0.561000	0.74099	CAG	.	.		0.597	PLA2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321938.1	NM_015715	
MCM5	4174	hgsc.bcm.edu	37	22	35796490	35796490	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:35796490A>G	ENST00000216122.4	+	2	213	c.59A>G	c.(58-60)cAg>cGg	p.Q20R	MCM5_ENST00000382011.5_Missense_Mutation_p.Q20R	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	20					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCGACGCCCAGGCCGACGAG	0.652																																					p.Q20R		Atlas-SNP	.											.	MCM5	54	.	0			c.A59G						.						45.0	50.0	48.0					22																	35796490		2203	4300	6503	SO:0001583	missense	4174	exon2			ACGCCCAGGCCGA		CCDS13915.1	22q13.1-q13.2	2007-04-04	2007-04-04		ENSG00000100297	ENSG00000100297			6948	protein-coding gene	gene with protein product		602696	"""minichromosome maintenance deficient (S. cerevisiae) 5 (cell division cycle 46)"", ""MCM5 minichromosome maintenance deficient 5, cell division cycle 46 (S. cerevisiae)"""	CDC46		8751386, 10591208	Standard	NM_006739		Approved		uc003anu.4	P33992	OTTHUMG00000150961	ENST00000216122.4:c.59A>G	chr22.hg19:g.35796490A>G	ENSP00000216122:p.Gln20Arg	61.0	0.0		140.0	8.0	NM_006739	O60785|Q14578|Q9BTJ4|Q9BWL8	Missense_Mutation	SNP	ENST00000216122.4	hg19	CCDS13915.1	.	.	.	.	.	.	.	.	.	.	A	7.342	0.621126	0.14193	.	.	ENSG00000100297	ENST00000216122;ENST00000382011;ENST00000416905	T;T;T	0.31247	4.23;3.89;1.5	5.08	-4.01	0.04045	.	0.784752	0.11702	N	0.537828	T	0.18923	0.0454	L	0.39020	1.185	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34900	-0.9810	10	0.16420	T	0.52	-6.6021	10.3507	0.43934	0.0687:0.5662:0.283:0.0821	.	20;20	B1AHB1;P33992	.;MCM5_HUMAN	R	20	ENSP00000216122:Q20R;ENSP00000371441:Q20R;ENSP00000393977:Q20R	ENSP00000216122:Q20R	Q	+	2	0	MCM5	34126490	0.000000	0.05858	0.067000	0.19924	0.455000	0.32408	0.009000	0.13219	-0.418000	0.07450	-1.701000	0.00721	CAG	.	.		0.652	MCM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320661.3		
TRIOBP	11078	hgsc.bcm.edu	37	22	38120914	38120914	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:38120914A>G	ENST00000406386.3	+	7	2606	c.2351A>G	c.(2350-2352)aAt>aGt	p.N784S		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	784					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TCCTCTCCCAATAGAGCCACA	0.562																																					p.N784S		Atlas-SNP	.											.	TRIOBP	262	.	0			c.A2351G						.						136.0	147.0	143.0					22																	38120914		1980	4156	6136	SO:0001583	missense	11078	exon7			CTCCCAATAGAGC	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2351A>G	chr22.hg19:g.38120914A>G	ENSP00000384312:p.Asn784Ser	90.0	0.0		161.0	15.0	NM_001039141	B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	hg19	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	A	7.619	0.676520	0.14841	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.19394	2.15	3.65	-1.7	0.08159	.	.	.	.	.	T	0.11750	0.0286	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32587	-0.9901	9	0.33940	T	0.23	.	1.5067	0.02488	0.3434:0.3775:0.1108:0.1683	.	784	Q9H2D6	TARA_HUMAN	S	784	ENSP00000384312:N784S	ENSP00000384312:N784S	N	+	2	0	TRIOBP	36450860	0.075000	0.21258	0.003000	0.11579	0.028000	0.11728	-0.418000	0.07080	-0.145000	0.11294	-0.560000	0.04181	AAT	.	.		0.562	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2		
EP300	2033	hgsc.bcm.edu	37	22	41560092	41560092	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:41560092A>T	ENST00000263253.7	+	22	4983	c.3764A>T	c.(3763-3765)cAt>cTt	p.H1255L		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1255					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAAAGATGCATCAGATCTGT	0.388			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																												p.H1255L		Atlas-SNP	.		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	.	EP300	367	.	0			c.A3764T						.						229.0	201.0	211.0					22																	41560092		2203	4300	6503	SO:0001583	missense	2033	exon22	Familial Cancer Database	Broad Thumb-Hallux syndrome	AGATGCATCAGAT	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3764A>T	chr22.hg19:g.41560092A>T	ENSP00000263253:p.His1255Leu	127.0	0.0		260.0	24.0	NM_001429	B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	hg19	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.457081	0.84317	.	.	ENSG00000100393	ENST00000263253	D	0.97941	-4.62	5.59	5.59	0.84812	.	0.000000	0.47852	D	0.000207	D	0.99026	0.9667	M	0.93328	3.405	0.54753	D	0.999986	D	0.76494	0.999	D	0.78314	0.991	D	0.99533	1.0961	10	0.87932	D	0	-13.0515	15.7693	0.78152	1.0:0.0:0.0:0.0	.	1255	Q09472	EP300_HUMAN	L	1255	ENSP00000263253:H1255L	ENSP00000263253:H1255L	H	+	2	0	EP300	39890038	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.339000	0.96797	2.125000	0.65367	0.459000	0.35465	CAT	.	.		0.388	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
POLR3H	171568	hgsc.bcm.edu	37	22	41928119	41928119	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:41928119G>T	ENST00000355209.4	-	4	681	c.338C>A	c.(337-339)tCa>tAa	p.S113*	POLR3H_ENST00000396504.2_Nonsense_Mutation_p.S113*|POLR3H_ENST00000407461.1_Nonsense_Mutation_p.S113*|POLR3H_ENST00000420561.1_5'Flank|POLR3H_ENST00000337566.5_Nonsense_Mutation_p.S84*	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	113					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|nucleobase-containing compound metabolic process (GO:0006139)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						CTGCTGCAGTGACTCTGGGGG	0.567																																					p.S113X		Atlas-SNP	.											.	POLR3H	30	.	0			c.C338A						.						98.0	79.0	85.0					22																	41928119		2203	4300	6503	SO:0001587	stop_gained	171568	exon4			TGCAGTGACTCTG	AB051452	CCDS14018.1, CCDS33651.1	22q13	2013-01-21			ENSG00000100413	ENSG00000100413		"""RNA polymerase subunits"""	30349	protein-coding gene	gene with protein product						11258795, 12391170	Standard	XR_244356		Approved	RPC8, KIAA1665	uc003baf.3	Q9Y535	OTTHUMG00000150971	ENST00000355209.4:c.338C>A	chr22.hg19:g.41928119G>T	ENSP00000347345:p.Ser113*	47.0	0.0		70.0	34.0	NM_001018050	B0QYH9|Q5M7Y8|Q96AE3|Q9BY95	Nonsense_Mutation	SNP	ENST00000355209.4	hg19	CCDS14018.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797136	0.70567	.	.	ENSG00000100413	ENST00000396504;ENST00000355209;ENST00000337566;ENST00000407461	.	.	.	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	18.4486	0.90695	0.0:0.0:1.0:0.0	.	.	.	.	X	113;113;84;113	.	ENSP00000337627:S84X	S	-	2	0	POLR3H	40258065	1.000000	0.71417	0.937000	0.37676	0.951000	0.60555	9.623000	0.98386	2.602000	0.87976	0.650000	0.86243	TCA	.	.		0.567	POLR3H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320701.1	NM_138338	
CRELD2	79174	hgsc.bcm.edu	37	22	50316298	50316298	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:50316298A>T	ENST00000328268.4	+	6	705	c.631A>T	c.(631-633)Aac>Tac	p.N211Y	CRELD2_ENST00000444954.1_3'UTR|CRELD2_ENST00000404488.3_Missense_Mutation_p.N260Y|CRELD2_ENST00000407217.3_Missense_Mutation_p.N211Y|CRELD2_ENST00000403427.3_Missense_Mutation_p.N211Y	NM_024324.3	NP_077300.3	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	211						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GGGCCTGACCAACAGAGACTG	0.672																																					p.N260Y		Atlas-SNP	.											.	CRELD2	57	.	0			c.A778T						.						48.0	34.0	39.0					22																	50316298		2187	4287	6474	SO:0001583	missense	79174	exon7			CTGACCAACAGAG	BC050675	CCDS14082.1, CCDS46730.1, CCDS63515.1, CCDS63516.1	22q13.33	2005-12-08			ENSG00000184164	ENSG00000184164			28150	protein-coding gene	gene with protein product		607171				12137942	Standard	XM_005261737		Approved	MGC11256	uc010hal.2	Q6UXH1	OTTHUMG00000150292	ENST00000328268.4:c.631A>T	chr22.hg19:g.50316298A>T	ENSP00000332223:p.Asn211Tyr	51.0	0.0		54.0	27.0	NM_001135101	A5GZA2|A5GZA3|A5GZA4|A5GZA5|A5GZA6|Q4W0V0|Q86UC0|Q9BU47	Missense_Mutation	SNP	ENST00000328268.4	hg19	CCDS14082.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827080	0.50739	.	.	ENSG00000184164	ENST00000450207;ENST00000404488;ENST00000328268;ENST00000407217;ENST00000403427	T;D;D;D;D	0.88124	2.48;-2.34;-2.34;-2.34;-2.34	4.13	1.83	0.25207	Growth factor, receptor (1);	0.354221	0.30311	N	0.009910	D	0.87881	0.6289	L	0.43701	1.375	0.21473	N	0.999678	D;D;D;P;D;D	0.65815	0.982;0.995;0.992;0.949;0.975;0.989	P;D;P;B;P;P	0.65874	0.814;0.939;0.861;0.269;0.59;0.7	T	0.78239	-0.2281	10	0.59425	D	0.04	.	7.5597	0.27845	0.7607:0.1527:0.0866:0.0	.	211;260;211;211;211;211	Q6UXH1-2;Q6UXH1-5;Q6UXH1-4;A5GZA6;Q6UXH1;Q6UXH1-3	.;.;.;.;CREL2_HUMAN;.	Y	211;260;211;211;211	ENSP00000387769:N211Y;ENSP00000383938:N260Y;ENSP00000332223:N211Y;ENSP00000386034:N211Y;ENSP00000384111:N211Y	ENSP00000332223:N211Y	N	+	1	0	CRELD2	48702302	0.015000	0.18098	0.098000	0.21074	0.926000	0.56050	0.711000	0.25764	0.644000	0.30656	0.528000	0.53228	AAC	.	.		0.672	CRELD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317409.1	NM_024324	
IL17REL	400935	hgsc.bcm.edu	37	22	50439551	50439551	+	Missense_Mutation	SNP	G	G	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:50439551G>C	ENST00000389983.2	-	4	333	c.69C>G	c.(67-69)tgC>tgG	p.C23W	IL17REL_ENST00000341280.5_Missense_Mutation_p.C23W	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	23										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GGAGCATCGCGCAGCCGTCAG	0.652																																					p.C23W		Atlas-SNP	.											.	IL17REL	21	.	0			c.C69G						.						41.0	33.0	35.0					22																	50439551		2194	4295	6489	SO:0001583	missense	400935	exon4			CATCGCGCAGCCG	AK123987	CCDS33679.1	22q13.33	2009-01-13			ENSG00000188263	ENSG00000188263			33808	protein-coding gene	gene with protein product		613414					Standard	NM_001001694		Approved	FLJ41993	uc003bje.1	Q6ZVW7	OTTHUMG00000150242	ENST00000389983.2:c.69C>G	chr22.hg19:g.50439551G>C	ENSP00000374633:p.Cys23Trp	46.0	0.0		160.0	17.0	NM_001001694	A6NCN4|A6PVC1	Missense_Mutation	SNP	ENST00000389983.2	hg19	CCDS33679.1	.	.	.	.	.	.	.	.	.	.	g	12.74	2.028950	0.35797	.	.	ENSG00000188263	ENST00000389983;ENST00000341280	T;T	0.34072	1.38;1.38	3.16	-0.348	0.12613	.	0.155416	0.43747	U	0.000535	T	0.47432	0.1445	L	0.59436	1.845	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.27157	-1.0082	10	0.87932	D	0	.	5.7491	0.18136	0.4071:0.0:0.5929:0.0	.	23	Q6ZVW7	I17EL_HUMAN	W	23	ENSP00000374633:C23W;ENSP00000342520:C23W	ENSP00000342520:C23W	C	-	3	2	IL17REL	48781678	0.022000	0.18835	0.020000	0.16555	0.006000	0.05464	-0.109000	0.10840	0.093000	0.17368	-0.144000	0.13903	TGC	.	.		0.652	IL17REL-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317011.1	NM_001001694	
TRABD	80305	hgsc.bcm.edu	37	22	50636557	50636557	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:50636557C>G	ENST00000303434.4	+	9	1017	c.898C>G	c.(898-900)Cac>Gac	p.H300D	RP3-402G11.26_ENST00000608025.1_RNA|TRABD_ENST00000380909.4_Missense_Mutation_p.H300D|TRABD_ENST00000395829.1_Missense_Mutation_p.H300D|TRABD_ENST00000395827.1_Missense_Mutation_p.H300D|SELO_ENST00000380903.2_5'Flank	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	300										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GGGCATGGGCCACGTGCCTGG	0.662																																					p.H300D		Atlas-SNP	.											.	TRABD	21	.	0			c.C898G						.						58.0	54.0	56.0					22																	50636557		2200	4299	6499	SO:0001583	missense	80305	exon9			ATGGGCCACGTGC	AL449244	CCDS14086.1	22q13.33	2006-07-06			ENSG00000170638	ENSG00000170638			28805	protein-coding gene	gene with protein product						12477932	Standard	NM_025204		Approved	PP2447	uc003bjs.1	Q9H4I3	OTTHUMG00000044644	ENST00000303434.4:c.898C>G	chr22.hg19:g.50636557C>G	ENSP00000305664:p.His300Asp	41.0	0.0		83.0	27.0	NM_025204	Q19CC5|Q96ED8|Q9H7N1|Q9UGX6|Q9UGX7	Missense_Mutation	SNP	ENST00000303434.4	hg19	CCDS14086.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041436	0.93685	.	.	ENSG00000170638	ENST00000380909;ENST00000303434;ENST00000395827;ENST00000395829	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.07	5.07	0.68467	.	0.101138	0.64402	D	0.000002	D	0.87265	0.6134	H	0.94620	3.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.91072	0.4893	10	0.87932	D	0	-18.7703	18.492	0.90851	0.0:1.0:0.0:0.0	.	254;300	Q9H4I3-2;Q9H4I3	.;TRABD_HUMAN	D	300	ENSP00000370295:H300D;ENSP00000305664:H300D;ENSP00000379171:H300D;ENSP00000379173:H300D	ENSP00000305664:H300D	H	+	1	0	TRABD	48978684	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.682000	0.74528	2.364000	0.80123	0.555000	0.69702	CAC	.	.		0.662	TRABD-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316987.1	NM_025204	
SBF1	6305	hgsc.bcm.edu	37	22	50898976	50898976	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:50898976C>T	ENST00000390679.3	-	24	3317	c.3133G>A	c.(3133-3135)Ggt>Agt	p.G1045S	SBF1_ENST00000348911.6_Missense_Mutation_p.G1046S|SBF1_ENST00000380817.3_Missense_Mutation_p.G1045S			O95248	MTMR5_HUMAN	SET binding factor 1	1045					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGAAGGACCCTTGTCCTTG	0.647																																					p.G1045S		Atlas-SNP	.											.	SBF1	211	.	0			c.G3133A						.						69.0	79.0	76.0					22																	50898976		2128	4217	6345	SO:0001583	missense	6305	exon24			AAGGACCCTTGTC	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.3133G>A	chr22.hg19:g.50898976C>T	ENSP00000375097:p.Gly1045Ser	32.0	0.0		77.0	4.0	NM_002972	A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	hg19		.	.	.	.	.	.	.	.	.	.	C	11.45	1.643808	0.29246	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000337034;ENST00000390679	T;T;T	0.01767	4.65;4.65;4.65	3.95	2.84	0.33178	.	0.325676	0.30667	N	0.009140	T	0.00845	0.0028	N	0.03608	-0.345	0.33390	D	0.57606	B;B	0.20052	0.009;0.041	B;B	0.22601	0.016;0.04	T	0.41928	-0.9481	10	0.20046	T	0.44	.	3.5534	0.07855	0.0:0.607:0.0:0.393	.	1045;1045	O95248;O95248-4	MTMR5_HUMAN;.	S	1045;1046;1055;1045	ENSP00000370196:G1045S;ENSP00000252027:G1046S;ENSP00000375097:G1045S	ENSP00000336522:G1055S	G	-	1	0	SBF1	49245842	1.000000	0.71417	0.993000	0.49108	0.446000	0.32137	2.662000	0.46766	2.027000	0.59764	0.467000	0.42956	GGT	.	.		0.647	SBF1-201	KNOWN	basic	protein_coding	protein_coding			
WWC3	55841	hgsc.bcm.edu	37	X	10085259	10085259	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:10085259G>A	ENST00000380861.4	+	11	1551	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	WWC3_ENST00000454666.1_Missense_Mutation_p.S387N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	387	Ser-rich.				negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGCTCCCTGAGCTCGGTCAGC	0.662																																					p.S387N		Atlas-SNP	.											.	WWC3	142	.	0			c.G1160A						.						48.0	52.0	51.0					X																	10085259		2203	4299	6502	SO:0001583	missense	55841	exon11			CCCTGAGCTCGGT	AK091936	CCDS14136.1	Xp22.32	2008-02-05			ENSG00000047644	ENSG00000047644		"""WW, C2 and coiled-coil domain containing"""	29237	protein-coding gene	gene with protein product						10574462	Standard	NM_015691		Approved	KIAA1280, BM042	uc004csx.4	Q9ULE0	OTTHUMG00000021123	ENST00000380861.4:c.1160G>A	chrX.hg19:g.10085259G>A	ENSP00000370242:p.Ser387Asn	21.0	0.0		92.0	84.0	NM_015691	A8KA96|Q659C1|Q9BTQ1	Missense_Mutation	SNP	ENST00000380861.4	hg19	CCDS14136.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101531	0.56183	.	.	ENSG00000047644	ENST00000380861;ENST00000454666;ENST00000543293;ENST00000398613	T;T	0.43294	0.95;0.95	5.53	5.53	0.82687	.	0.192666	0.64402	D	0.000005	T	0.53045	0.1772	L	0.41824	1.3	0.49483	D	0.999797	D	0.63880	0.993	P	0.60117	0.869	T	0.43686	-0.9376	10	0.30078	T	0.28	-15.4907	18.6465	0.91411	0.0:0.0:1.0:0.0	.	387	Q9ULE0	WWC3_HUMAN	N	387;387;51;387	ENSP00000370242:S387N;ENSP00000399584:S387N	ENSP00000370242:S387N	S	+	2	0	WWC3	10045259	1.000000	0.71417	0.998000	0.56505	0.662000	0.39071	6.390000	0.73204	2.348000	0.79779	0.464000	0.42555	AGC	.	.		0.662	WWC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055725.1	NM_015691	
MAP3K15	389840	hgsc.bcm.edu	37	X	19379516	19379516	+	Silent	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:19379516A>G	ENST00000338883.4	-	28	3797	c.3798T>C	c.(3796-3798)taT>taC	p.Y1266Y	PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000359173.3_Silent_p.Y701Y|MAP3K15_ENST00000469203.2_Silent_p.Y1098Y|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000422285.2_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1266							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCGAAAGTGTATAACCCTCTT	0.348																																					p.Y1266Y		Atlas-SNP	.											.	MAP3K15	108	.	0			c.T3798C						.						67.0	59.0	61.0					X																	19379516		2203	4300	6503	SO:0001819	synonymous_variant	389840	exon28			AAGTGTATAACCC	AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3798T>C	chrX.hg19:g.19379516A>G		70.0	0.0		179.0	18.0	NM_001001671	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Silent	SNP	ENST00000338883.4	hg19																																																																																				.	.		0.348	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001671	
RPS6KA3	6197	hgsc.bcm.edu	37	X	20252926	20252926	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:20252926G>A	ENST00000379565.3	-	2	283	c.76C>T	c.(76-78)Cag>Tag	p.Q26*	RPS6KA3_ENST00000540702.1_5'UTR|RPS6KA3_ENST00000544447.1_5'UTR	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	26					axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	ATAATTTGCTGTCCATTCTGT	0.338																																					p.Q26X		Atlas-SNP	.											.	RPS6KA3	110	.	0			c.C76T						.						93.0	77.0	83.0					X																	20252926		2203	4300	6503	SO:0001587	stop_gained	6197	exon2			TTTGCTGTCCATT	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.76C>T	chrX.hg19:g.20252926G>A	ENSP00000368884:p.Gln26*	85.0	0.0		337.0	33.0	NM_004586	B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Nonsense_Mutation	SNP	ENST00000379565.3	hg19	CCDS14197.1	.	.	.	.	.	.	.	.	.	.	G	37	6.183972	0.97357	.	.	ENSG00000177189	ENST00000379565	.	.	.	5.31	5.31	0.75309	.	0.484849	0.20103	N	0.099190	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	13.3469	0.60578	0.0:0.0:1.0:0.0	.	.	.	.	X	26	.	ENSP00000368884:Q26X	Q	-	1	0	RPS6KA3	20162847	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.349000	0.66010	2.213000	0.71641	0.594000	0.82650	CAG	.	.		0.338	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586	
CNKSR2	22866	hgsc.bcm.edu	37	X	21545015	21545015	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:21545015G>A	ENST00000379510.3	+	10	1024	c.988G>A	c.(988-990)Gtt>Att	p.V330I	CNKSR2_ENST00000543067.1_Missense_Mutation_p.V281I|CNKSR2_ENST00000279451.4_Missense_Mutation_p.V330I|CNKSR2_ENST00000425654.2_Missense_Mutation_p.V330I	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	330					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CACAAGCAGCGTTGCCACGCC	0.453													G|||	1	0.000264901	0.0	0.0	3775	,	,		7043	0.0		0.0	False		,,,				2504	0.001				p.V330I		Atlas-SNP	.											.	CNKSR2	158	.	0			c.G988A						.						222.0	211.0	215.0					X																	21545015		2203	4300	6503	SO:0001583	missense	22866	exon10			AGCAGCGTTGCCA	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.988G>A	chrX.hg19:g.21545015G>A	ENSP00000368824:p.Val330Ile	54.0	0.0		200.0	39.0	NM_001168647	B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	hg19	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384359	0.42308	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.18502	2.5;2.25;2.21;2.48	5.58	4.66	0.58398	.	0.196899	0.43416	D	0.000563	T	0.06826	0.0174	N	0.02011	-0.69	0.24045	N	0.996062	B;B;B	0.20988	0.029;0.05;0.007	B;B;B	0.12156	0.007;0.003;0.002	T	0.29852	-0.9998	10	0.17832	T	0.49	-9.6134	14.3431	0.66641	0.0:0.0:0.8514:0.1485	.	330;281;330	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	I	330;281;330;330	ENSP00000397906:V330I;ENSP00000444633:V281I;ENSP00000279451:V330I;ENSP00000368824:V330I	ENSP00000279451:V330I	V	+	1	0	CNKSR2	21454936	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.870000	0.63035	2.338000	0.79540	0.544000	0.68410	GTT	.	.		0.453	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927	
ARAF	369	hgsc.bcm.edu	37	X	47428285	47428285	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:47428285G>T	ENST00000377045.4	+	11	1439	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H		NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	415	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	AGACTGCCCAGGGCATGGAGT	0.657											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.Q418H		Atlas-SNP	.											.	ARAF	67	.	0			c.G1254T						.						29.0	24.0	26.0					X																	47428285		2203	4300	6503	SO:0001583	missense	369	exon11			TGCCCAGGGCATG	X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1245G>T	chrX.hg19:g.47428285G>T	ENSP00000366244:p.Gln415His	38.0	0.0	946	203.0	28.0	NM_001256196	P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	ENST00000377045.4	hg19	CCDS35232.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990746	0.74589	.	.	ENSG00000078061	ENST00000377045	D	0.83163	-1.69	5.33	4.47	0.54385	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85366	0.5680	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84916	0.0851	10	0.87932	D	0	.	7.5126	0.27583	0.1992:0.0:0.8008:0.0	.	415;281	P10398;B4DV85	ARAF_HUMAN;.	H	415	ENSP00000366244:Q415H	ENSP00000366244:Q415H	Q	+	3	2	ARAF	47313229	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.143000	0.64826	1.008000	0.39264	0.422000	0.28245	CAG	.	.		0.657	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056418.1		
AMER1	139285	hgsc.bcm.edu	37	X	63410708	63410708	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:63410708C>A	ENST00000330258.3	-	2	2731	c.2459G>T	c.(2458-2460)gGc>gTc	p.G820V	AMER1_ENST00000374869.3_Intron|AMER1_ENST00000403336.1_Intron	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	820					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TTCACACTTGCCTTCCCCATC	0.502																																					p.G820V		Atlas-SNP	.											.	.	.	.	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	c.G2459T						.						45.0	43.0	43.0					X																	63410708		2200	4296	6496	SO:0001583	missense	139285	exon2			CACTTGCCTTCCC	AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2459G>T	chrX.hg19:g.63410708C>A	ENSP00000329117:p.Gly820Val	25.0	0.0		125.0	34.0	NM_152424	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	hg19	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507616	0.64410	.	.	ENSG00000184675	ENST00000330258	T	0.75367	-0.93	5.0	5.0	0.66597	.	.	.	.	.	T	0.76786	0.4036	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.75542	-0.3281	8	.	.	.	0.4471	16.219	0.82244	0.0:1.0:0.0:0.0	.	820	Q5JTC6	F123B_HUMAN	V	820	ENSP00000329117:G820V	.	G	-	2	0	FAM123B	63327433	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.660000	0.74417	2.484000	0.83849	0.529000	0.55759	GGC	.	.		0.502	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
ASB12	142689	hgsc.bcm.edu	37	X	63444957	63444957	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:63444957C>A	ENST00000396130.2	-	1	546	c.547G>T	c.(547-549)Ggg>Tgg	p.G183W	MTMR8_ENST00000453546.1_Missense_Mutation_p.G567W|ASB12_ENST00000362002.2_Missense_Mutation_p.G192W			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	183					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TCCAGGTGCCCGTAGACTGCG	0.572																																					p.G192W		Atlas-SNP	.											.	ASB12	102	.	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.G574T						.						66.0	60.0	62.0					X																	63444957		2203	4300	6503	SO:0001583	missense	142689	exon2			GGTGCCCGTAGAC	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.547G>T	chrX.hg19:g.63444957C>A	ENSP00000379435:p.Gly183Trp	24.0	0.0		102.0	5.0	NM_130388	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	hg19		.	.	.	.	.	.	.	.	.	.	C	16.17	3.047096	0.55110	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.75154	-0.91;-0.91;-0.91	4.0	3.14	0.36123	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.85822	0.5786	M	0.87971	2.92	0.28421	N	0.917728	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.79531	-0.1765	10	0.87932	D	0	-14.651	9.8685	0.41160	0.0:0.8937:0.0:0.1063	.	567;183	B4DQL0;Q8WXK4	.;ASB12_HUMAN	W	192;183;192;567	ENSP00000355195:G192W;ENSP00000379435:G183W;ENSP00000394003:G567W	ENSP00000354626:G192W	G	-	1	0	ASB12;MTMR8	63361682	1.000000	0.71417	0.966000	0.40874	0.878000	0.50629	4.288000	0.59007	0.838000	0.34948	0.468000	0.43344	GGG	.	.		0.572	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
ASB12	142689	hgsc.bcm.edu	37	X	63445128	63445128	+	Missense_Mutation	SNP	T	T	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:63445128T>C	ENST00000396130.2	-	1	375	c.376A>G	c.(376-378)Agc>Ggc	p.S126G	MTMR8_ENST00000453546.1_Missense_Mutation_p.S510G|ASB12_ENST00000362002.2_Missense_Mutation_p.S135G			Q8WXK4	ASB12_HUMAN	ankyrin repeat and SOCS box containing 12	126					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.0?(2)		endometrium(2)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						TTGTAGATGCTACCACCAGGA	0.547																																					p.S135G		Atlas-SNP	.											.	ASB12	102	.	2	Whole gene deletion(2)	ovary(1)|large_intestine(1)	c.A403G						.						104.0	65.0	78.0					X																	63445128		2203	4300	6503	SO:0001583	missense	142689	exon2			AGATGCTACCACC	AF403030	CCDS14378.1, CCDS14378.2	Xq11.1	2013-01-10	2011-01-25		ENSG00000198881	ENSG00000198881		"""Ankyrin repeat domain containing"""	19763	protein-coding gene	gene with protein product		300891	"""ankyrin repeat and SOCS box-containing 12"""			12076535	Standard	NM_130388		Approved	FLJ39577		Q8WXK4	OTTHUMG00000021705	ENST00000396130.2:c.376A>G	chrX.hg19:g.63445128T>C	ENSP00000379435:p.Ser126Gly	45.0	0.0		214.0	16.0	NM_130388	J3KP57|Q2M3D5|Q52LK4|Q6ISF9|Q8N8F5	Missense_Mutation	SNP	ENST00000396130.2	hg19		.	.	.	.	.	.	.	.	.	.	T	19.39	3.817934	0.71028	.	.	ENSG00000198881;ENSG00000198881;ENSG00000198881;ENSG00000102043	ENST00000362002;ENST00000396130;ENST00000361287;ENST00000453546	T;T;T	0.64618	-0.11;-0.11;-0.11	4.0	4.0	0.46444	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63070	0.2480	L	0.28192	0.835	0.27853	N	0.940689	D;D	0.69078	0.997;0.997	D;D	0.80764	0.994;0.992	T	0.54390	-0.8301	10	0.14656	T	0.56	-24.6711	11.2485	0.49010	0.0:0.0:0.0:1.0	.	510;126	B4DQL0;Q8WXK4	.;ASB12_HUMAN	G	135;126;135;510	ENSP00000355195:S135G;ENSP00000379435:S126G;ENSP00000394003:S510G	ENSP00000354626:S135G	S	-	1	0	ASB12;MTMR8	63361853	1.000000	0.71417	0.998000	0.56505	0.910000	0.53928	7.194000	0.77789	1.595000	0.50050	0.381000	0.24937	AGC	.	.		0.547	ASB12-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			
TAF1	6872	hgsc.bcm.edu	37	X	70680629	70680629	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:70680629A>G	ENST00000373790.4	+	37	5423	c.5372A>G	c.(5371-5373)cAt>cGt	p.H1791R	TAF1_ENST00000276072.3_Missense_Mutation_p.H1812R|TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000423759.1_Missense_Mutation_p.H1814R|TAF1_ENST00000449580.1_Missense_Mutation_p.H1825R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1791	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GAGGCTTCCCATGGTTTGGAG	0.507																																					p.H1812R		Atlas-SNP	.											.	TAF1	439	.	0			c.A5435G						.						117.0	81.0	93.0					X																	70680629		2201	4299	6500	SO:0001583	missense	6872	exon37			CTTCCCATGGTTT		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5372A>G	chrX.hg19:g.70680629A>G	ENSP00000362895:p.His1791Arg	68.0	0.0		177.0	36.0	NM_004606	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	hg19	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.11|10.11	1.259763|1.259763	0.23051|0.23051	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000276072|ENST00000437147	T;T;T;T|.	0.08370|.	3.1;3.14;3.16;3.1|.	4.76|4.76	-0.271|-0.271	0.12922|0.12922	.|.	0.662303|.	0.16392|.	N|.	0.216437|.	T|T	0.22704|0.22704	0.0548|0.0548	N|N	0.19112|0.19112	0.55|0.55	0.20873|0.20873	N|N	0.999833|0.999833	B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0|.	B;B;B;B|.	0.04013|.	0.001;0.001;0.0;0.001|.	T|T	0.29701|0.29701	-1.0003|-1.0003	10|5	0.11485|.	T|.	0.65|.	.|.	8.3625|8.3625	0.32367|0.32367	0.6661:0.0:0.3339:0.0|0.6661:0.0:0.3339:0.0	.|.	481;1825;1791;1812|.	A5CVC9;P21675-4;P21675;P21675-2|.	.;.;TAF1_HUMAN;.|.	R|V	1791;1825;1814;533;1812|480	ENSP00000362895:H1791R;ENSP00000389000:H1825R;ENSP00000406549:H1814R;ENSP00000276072:H1812R|.	ENSP00000276072:H1812R|.	H|M	+|+	2|1	0|0	TAF1|TAF1	70597354|70597354	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.997000|0.997000	0.91878|0.91878	1.978000|1.978000	0.40598|0.40598	-0.324000|-0.324000	0.08589|0.08589	0.430000|0.430000	0.28490|0.28490	CAT|ATG	.	.		0.507	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
CYLC1	1538	hgsc.bcm.edu	37	X	83128877	83128877	+	Missense_Mutation	SNP	G	G	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:83128877G>T	ENST00000329312.4	+	4	1198	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	387					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAAGAAATTTGAAGAAAGCTT	0.353																																					p.L387F		Atlas-SNP	.											.	CYLC1	272	.	0			c.G1161T						.						29.0	25.0	27.0					X																	83128877		2194	4287	6481	SO:0001583	missense	1538	exon4			AAATTTGAAGAAA	Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1161G>T	chrX.hg19:g.83128877G>T	ENSP00000331556:p.Leu387Phe	51.0	0.0		157.0	9.0	NM_021118	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	hg19	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	0.989	-0.694703	0.03303	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.23348	1.91	3.43	-6.87	0.01671	.	.	.	.	.	T	0.09730	0.0239	N	0.08118	0	0.09310	N	1	B;B	0.18166	0.026;0.026	B;B	0.22753	0.041;0.041	T	0.31888	-0.9927	9	0.56958	D	0.05	.	2.736	0.05240	0.5957:0.1112:0.1291:0.164	.	387;387	P35663;F5H4V5	CYLC1_HUMAN;.	F	387	ENSP00000331556:L387F	ENSP00000331556:L387F	L	+	3	2	CYLC1	83015533	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.359000	0.02602	-1.457000	0.01919	-1.346000	0.01242	TTG	.	.		0.353	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
CHM	1121	hgsc.bcm.edu	37	X	85218969	85218969	+	Missense_Mutation	SNP	C	C	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:85218969C>G	ENST00000357749.2	-	5	432	c.403G>C	c.(403-405)Gat>Cat	p.D135H	CHM_ENST00000467744.2_Intron|CHM_ENST00000537751.1_5'UTR	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	135					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				AAGGCAGAATCTGCAGCTTCT	0.453																																					p.D135H		Atlas-SNP	.											.	CHM	57	.	0			c.G403C						.						80.0	69.0	73.0					X																	85218969		2203	4300	6503	SO:0001583	missense	1121	exon5			CAGAATCTGCAGC	X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.403G>C	chrX.hg19:g.85218969C>G	ENSP00000350386:p.Asp135His	75.0	0.0		247.0	13.0	NM_000390	A1L4D2|O43732	Missense_Mutation	SNP	ENST00000357749.2	hg19	CCDS14454.1	.	.	.	.	.	.	.	.	.	.	C	2.434	-0.330191	0.05314	.	.	ENSG00000188419	ENST00000357749	T	0.59502	0.26	4.64	0.677	0.17964	.	0.600547	0.17895	N	0.158391	T	0.35508	0.0934	N	0.21448	0.665	0.09310	N	0.999998	B	0.12630	0.006	B	0.14023	0.01	T	0.19484	-1.0304	10	0.54805	T	0.06	-0.0743	2.2676	0.04083	0.1209:0.4594:0.1255:0.2941	.	135	P24386	RAE1_HUMAN	H	135	ENSP00000350386:D135H	ENSP00000350386:D135H	D	-	1	0	CHM	85105625	0.020000	0.18652	0.020000	0.16555	0.108000	0.19459	1.596000	0.36718	-0.245000	0.09625	0.284000	0.19432	GAT	.	.		0.453	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057396.3	NM_000390	
TGIF2LX	90316	hgsc.bcm.edu	37	X	89177619	89177620	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:89177619_89177620CC>AG	ENST00000561129.2	+	1	665_666	c.535_536CC>AG	c.(535-537)CCt>AGt	p.P179S	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.P179S			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GGAGTCGGCCCCTAGCCAGAAG	0.574																																					p.P179T|p.P179R		Atlas-SNP	.											.	TGIF2LX	84	.	0			c.C535A|c.C536G						.																																			SO:0001583	missense	90316	exon2			TCGGCCCCTAGCC|CGGCCCCTAGCCA	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	Exception_encountered	chrX.hg19:g.89177619_89177620delinsAG	ENSP00000453704:p.Pro179Ser	53.0|52.0	0.0		339.0|345.0	57.0|59.0	NM_138960	Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	hg19	CCDS14459.1																																																																																			.	.		0.574	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
TGIF2LX	90316	hgsc.bcm.edu	37	X	89177754	89177754	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:89177754G>A	ENST00000561129.2	+	1	800	c.670G>A	c.(670-672)Gca>Aca	p.A224T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A224T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						AGTCGATGCAGCAGTACAAAG	0.498																																					p.A224T		Atlas-SNP	.											.	TGIF2LX	84	.	0			c.G670A						.						44.0	47.0	46.0					X																	89177754		2198	4293	6491	SO:0001583	missense	90316	exon2			GATGCAGCAGTAC	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.670G>A	chrX.hg19:g.89177754G>A	ENSP00000453704:p.Ala224Thr	94.0	0.0		551.0	76.0	NM_138960	Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	hg19	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.553979	0.27739	.	.	ENSG00000153779	ENST00000283891	T	0.76060	-0.99	3.11	2.24	0.28232	.	0.671285	0.12355	N	0.476210	D	0.84051	0.5387	M	0.83483	2.645	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.70029	-0.4984	9	.	.	.	-20.3271	5.5631	0.17154	0.1575:0.0:0.8425:0.0	.	224	Q8IUE1	TF2LX_HUMAN	T	224	ENSP00000355119:A224T	.	A	+	1	0	TGIF2LX	89064410	0.990000	0.36364	0.011000	0.14972	0.004000	0.04260	4.421000	0.59848	0.723000	0.32274	0.415000	0.27848	GCA	.	.		0.498	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
MORF4L2	9643	hgsc.bcm.edu	37	X	102931737	102931737	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:102931737C>A	ENST00000441076.2	-	4	523	c.219G>T	c.(217-219)agG>agT	p.R73S	MORF4L2_ENST00000433176.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000360458.1_Missense_Mutation_p.R73S|MORF4L2_ENST00000451301.1_Missense_Mutation_p.R73S|MORF4L2_ENST00000423833.2_Missense_Mutation_p.R73S|MORF4L2_ENST00000422154.2_Missense_Mutation_p.R73S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	73					chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						TTCTGGTCTTCCTCACGGATC	0.567																																					p.R73S		Atlas-SNP	.											.	MORF4L2	35	.	0			c.G219T						.						66.0	57.0	60.0					X																	102931737		2203	4300	6503	SO:0001583	missense	9643	exon5			GGTCTTCCTCACG	AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.219G>T	chrX.hg19:g.102931737C>A	ENSP00000391969:p.Arg73Ser	33.0	0.0		133.0	31.0	NM_001142422	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	ENST00000441076.2	hg19	CCDS14512.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173156	0.21704	.	.	ENSG00000123562	ENST00000360458;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833;ENST00000434230;ENST00000418819;ENST00000442614	T;T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55;1.55	4.52	3.66	0.41972	.	0.109692	0.38837	N	0.001545	T	0.15089	0.0364	N	0.24115	0.695	0.34938	D	0.749982	B	0.26081	0.141	B	0.18263	0.021	T	0.15607	-1.0431	10	0.07482	T	0.82	-16.8622	7.308	0.26459	0.0:0.8813:0.0:0.1187	.	73	Q15014	MO4L2_HUMAN	S	73;73;73;73;55;73;73;73;73;73	ENSP00000353643:R73S;ENSP00000415476:R73S;ENSP00000394417:R73S;ENSP00000410532:R73S;ENSP00000391969:R73S;ENSP00000416120:R73S	ENSP00000353643:R73S	R	-	3	2	MORF4L2	102818393	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.687000	0.46976	1.244000	0.43870	0.600000	0.82982	AGG	.	.		0.567	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057732.1	NM_012286	
PLP1	5354	hgsc.bcm.edu	37	X	103041518	103041518	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:103041518A>G	ENST00000303958.2	+	3	462	c.316A>G	c.(316-318)Acc>Gcc	p.T106A	PLP1_ENST00000418604.1_Missense_Mutation_p.T106A|PLP1_ENST00000361621.2_Missense_Mutation_p.T106A	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	106					astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						CGACTACAAGACCACCATCTG	0.587																																					p.T106A		Atlas-SNP	.											.	PLP1	37	.	0			c.A316G						.						119.0	106.0	110.0					X																	103041518		2203	4300	6503	SO:0001583	missense	5354	exon4			TACAAGACCACCA	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.316A>G	chrX.hg19:g.103041518A>G	ENSP00000305152:p.Thr106Ala	71.0	0.0		387.0	90.0	NM_001128834	P04400|P06905|Q502Y1|Q6FHZ6	Missense_Mutation	SNP	ENST00000303958.2	hg19	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.564697	0.45694	.	.	ENSG00000123560	ENST00000434483;ENST00000429977;ENST00000455268;ENST00000422393;ENST00000418604;ENST00000443502;ENST00000303958;ENST00000361621	D;D;D;D;D;D;D;D	0.99259	-5.64;-5.64;-5.64;-5.64;-5.64;-5.64;-5.64;-5.64	5.78	5.78	0.91487	.	0.183995	0.64402	D	0.000018	D	0.97284	0.9112	N	0.19112	0.55	0.41067	D	0.985429	B;B;B;B;P	0.35192	0.022;0.003;0.003;0.003;0.489	B;B;B;B;B	0.39465	0.012;0.006;0.008;0.006;0.3	D	0.97617	1.0133	10	0.42905	T	0.14	-4.5431	12.8049	0.57607	1.0:0.0:0.0:0.0	.	51;106;106;106;106	B4DI30;A8K9L3;B1B1G6;P60201;P60201-2	.;.;.;MYPR_HUMAN;.	A	106	ENSP00000403335:T106A;ENSP00000399913:T106A;ENSP00000409802:T106A;ENSP00000413931:T106A;ENSP00000405750:T106A;ENSP00000391853:T106A;ENSP00000305152:T106A;ENSP00000354860:T106A	ENSP00000305152:T106A	T	+	1	0	PLP1	102928174	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.159000	0.77483	1.931000	0.55961	0.486000	0.48141	ACC	.	.		0.587	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2		
PLP1	5354	hgsc.bcm.edu	37	X	103041636	103041636	+	Nonsense_Mutation	SNP	G	G	A	rs132630292		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:103041636G>A	ENST00000303958.2	+	3	580	c.434G>A	c.(433-435)tGg>tAg	p.W145*	PLP1_ENST00000418604.1_Nonsense_Mutation_p.W145*|PLP1_ENST00000361621.2_Intron	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1	145			Missing (in HLD1).		astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TTGGGAAAATGGCTAGGACAT	0.562																																					p.W145X		Atlas-SNP	.											.	PLP1	37	.	0			c.G434A	GRCh37	CM950965	PLP1	M	rs132630292	.						136.0	118.0	124.0					X																	103041636		2203	4300	6503	SO:0001587	stop_gained	5354	exon4			GAAAATGGCTAGG	M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.434G>A	chrX.hg19:g.103041636G>A	ENSP00000305152:p.Trp145*	84.0	0.0		382.0	47.0	NM_001128834	P04400|P06905|Q502Y1|Q6FHZ6	Nonsense_Mutation	SNP	ENST00000303958.2	hg19	CCDS14513.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783343	0.90282	.	.	ENSG00000123560	ENST00000418604;ENST00000303958;ENST00000428755	.	.	.	5.78	4.9	0.64082	.	0.211332	0.36703	N	0.002450	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-15.4207	12.6272	0.56636	0.0:0.0:0.8334:0.1666	.	.	.	.	X	145;145;123	.	ENSP00000305152:W145X	W	+	2	0	PLP1	102928292	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.473000	0.73572	1.141000	0.42275	0.600000	0.82982	TGG	.	.		0.562	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057743.2		
RBMXL3	139804	hgsc.bcm.edu	37	X	114424168	114424168	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:114424168C>A	ENST00000424776.3	+	1	206	c.164C>A	c.(163-165)aCc>aAc	p.T55N	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	55	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GCGTTCGTCACCTTCGAAAGC	0.542																																					p.T55N		Atlas-SNP	.											.	RBMXL3	83	.	0			c.C164A						.						74.0	70.0	71.0					X																	114424168		692	1591	2283	SO:0001583	missense	139804	exon1			TCGTCACCTTCGA	AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.164C>A	chrX.hg19:g.114424168C>A	ENSP00000417451:p.Thr55Asn	34.0	0.0		231.0	62.0	NM_001145346	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	hg19	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	C	12.89	2.072650	0.36566	.	.	ENSG00000175718	ENST00000424776	T	0.17370	2.28	0.69	0.69	0.18039	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.15696	0.0378	L	0.54965	1.715	0.34374	D	0.692419	B	0.21905	0.062	B	0.29353	0.101	T	0.18555	-1.0333	9	0.87932	D	0	.	3.6018	0.08027	0.4387:0.5612:1.0E-4:0.0	.	55	Q8N7X1	RMXL3_HUMAN	N	55	ENSP00000417451:T55N	ENSP00000417451:T55N	T	+	2	0	RBMXL3	114330424	0.969000	0.33509	0.019000	0.16419	0.007000	0.05969	2.482000	0.45224	0.587000	0.29643	0.422000	0.28245	ACC	.	.		0.542	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
OCRL	4952	hgsc.bcm.edu	37	X	128722192	128722192	+	Missense_Mutation	SNP	C	C	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:128722192C>T	ENST00000371113.4	+	21	2458	c.2293C>T	c.(2293-2295)Ctc>Ttc	p.L765F	OCRL_ENST00000357121.5_Missense_Mutation_p.L757F	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	765	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCAGGAAGAGCTCCAGCAGAT	0.463																																					p.L765F		Atlas-SNP	.											.	OCRL	117	.	0			c.C2293T						.						96.0	85.0	89.0					X																	128722192		2203	4300	6503	SO:0001583	missense	4952	exon21			GAAGAGCTCCAGC	U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2293C>T	chrX.hg19:g.128722192C>T	ENSP00000360154:p.Leu765Phe	57.0	0.0		173.0	32.0	NM_000276	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	hg19	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	6.013	0.370877	0.11409	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	T;T	0.20200	2.09;2.09	5.52	3.16	0.36331	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.070421	0.56097	D	0.000035	T	0.24005	0.0581	L	0.28504	0.86	0.53688	D	0.999978	D;B	0.63046	0.992;0.044	P;B	0.62813	0.907;0.04	T	0.09862	-1.0655	10	0.12430	T	0.62	.	7.4919	0.27466	0.0:0.2692:0.0:0.7308	.	757;765	Q01968-2;Q01968	.;OCRL_HUMAN	F	765;757	ENSP00000360154:L765F;ENSP00000349635:L757F	ENSP00000349635:L757F	L	+	1	0	OCRL	128549873	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	0.664000	0.25068	0.252000	0.21531	-0.340000	0.08031	CTC	.	.		0.463	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
FRMD7	90167	hgsc.bcm.edu	37	X	131212315	131212315	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:131212315G>A	ENST00000298542.4	-	12	1905	c.1730C>T	c.(1729-1731)gCa>gTa	p.A577V	FRMD7_ENST00000370879.1_Missense_Mutation_p.A457V|FRMD7_ENST00000464296.1_Missense_Mutation_p.A562V	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	577					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACATACAAATGCATCTTCCAA	0.423																																					p.A577V		Atlas-SNP	.											.	FRMD7	69	.	0			c.C1730T						.						126.0	113.0	117.0					X																	131212315		2203	4300	6503	SO:0001583	missense	90167	exon12			ACAAATGCATCTT	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1730C>T	chrX.hg19:g.131212315G>A	ENSP00000298542:p.Ala577Val	60.0	0.0		242.0	26.0	NM_194277	C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	hg19	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	3.190	-0.166006	0.06461	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.87809	-2.3;-1.96;-2.06	5.26	2.15	0.27550	.	0.822948	0.10736	N	0.640041	T	0.78329	0.4266	L	0.31752	0.955	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.001	T	0.60255	-0.7299	10	0.21540	T	0.41	.	9.0464	0.36349	0.3562:0.0:0.6438:0.0	.	562;577	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	V	457;577;562	ENSP00000359916:A457V;ENSP00000298542:A577V;ENSP00000417996:A562V	ENSP00000298542:A577V	A	-	2	0	FRMD7	131039996	0.643000	0.27269	0.926000	0.36857	0.064000	0.16182	1.180000	0.32005	0.275000	0.22094	-0.197000	0.12766	GCA	.	.		0.423	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
GPR112	139378	hgsc.bcm.edu	37	X	135453612	135453612	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:135453612A>G	ENST00000394143.1	+	14	7813	c.7522A>G	c.(7522-7524)Atg>Gtg	p.M2508V	GPR112_ENST00000394141.1_Missense_Mutation_p.M2303V|GPR112_ENST00000370652.1_Missense_Mutation_p.M2508V|GPR112_ENST00000412101.1_Missense_Mutation_p.M2303V|GPR112_ENST00000287534.4_Missense_Mutation_p.M2306V	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2508					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGAGATAAGTATGAACCTAAC	0.313																																					p.M2508V		Atlas-SNP	.											.	GPR112	459	.	0			c.A7522G						.						65.0	59.0	61.0					X																	135453612		2203	4296	6499	SO:0001583	missense	139378	exon14			ATAAGTATGAACC	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7522A>G	chrX.hg19:g.135453612A>G	ENSP00000377699:p.Met2508Val	83.0	0.0		302.0	26.0	NM_153834	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	hg19	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	a	8.194	0.796709	0.16327	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.27557	1.7;1.7;1.66;1.92;1.66	5.14	2.52	0.30459	.	.	.	.	.	T	0.14787	0.0357	N	0.14661	0.345	0.09310	N	0.999996	B;B	0.17667	0.023;0.002	B;B	0.14023	0.01;0.008	T	0.32375	-0.9909	9	0.14252	T	0.57	.	5.4056	0.16320	0.7028:0.1896:0.1076:0.0	.	2303;2508	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	V	2508;2508;2303;2306;2303	ENSP00000377699:M2508V;ENSP00000359686:M2508V;ENSP00000416526:M2303V;ENSP00000287534:M2306V;ENSP00000377697:M2303V	ENSP00000287534:M2306V	M	+	1	0	GPR112	135281278	0.986000	0.35501	1.000000	0.80357	0.981000	0.71138	0.168000	0.16622	0.612000	0.30071	0.483000	0.47432	ATG	.	.		0.313	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
MAGEC3	139081	hgsc.bcm.edu	37	X	140985121	140985121	+	Missense_Mutation	SNP	A	A	G			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:140985121A>G	ENST00000298296.1	+	7	1577	c.1577A>G	c.(1576-1578)gAa>gGa	p.E526G	MAGEC3_ENST00000536088.1_Missense_Mutation_p.E228G|MAGEC3_ENST00000544766.1_Missense_Mutation_p.E228G|MAGEC3_ENST00000409007.1_Missense_Mutation_p.E228G|MAGEC3_ENST00000443323.2_Missense_Mutation_p.E148G	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	526	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					TATTTCTTTGAAGACACATTA	0.438																																					p.E526G		Atlas-SNP	.											.	MAGEC3	228	.	0			c.A1577G						.						152.0	144.0	147.0					X																	140985121		2203	4300	6503	SO:0001583	missense	139081	exon7			TCTTTGAAGACAC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1577A>G	chrX.hg19:g.140985121A>G	ENSP00000298296:p.Glu526Gly	29.0	0.0		106.0	8.0	NM_138702	Q3SYA7|Q5JZ43|Q9BZ80	Missense_Mutation	SNP	ENST00000298296.1	hg19	CCDS14676.1	.	.	.	.	.	.	.	.	.	.	a	5.460	0.269946	0.10349	.	.	ENSG00000165509	ENST00000298296;ENST00000536088;ENST00000443323;ENST00000544766;ENST00000409007	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	1.25	-2.5	0.06384	.	.	.	.	.	T	0.02418	0.0074	N	0.08118	0	0.09310	N	1	P;P	0.49253	0.921;0.49	B;B	0.42188	0.218;0.379	T	0.37865	-0.9687	9	0.59425	D	0.04	.	4.071	0.09882	0.5973:0.0:0.0:0.4027	.	526;228	Q8TD91;Q3SYA7	MAGC3_HUMAN;.	G	526;228;148;228;228	ENSP00000298296:E526G;ENSP00000441107:E228G;ENSP00000438254:E148G;ENSP00000440444:E228G;ENSP00000386566:E228G	ENSP00000298296:E526G	E	+	2	0	MAGEC3	140812787	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.807000	0.04520	-1.029000	0.03317	-1.111000	0.02071	GAA	.	.		0.438	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702	
HMGB3	3149	hgsc.bcm.edu	37	X	150155724	150155724	+	Missense_Mutation	SNP	A	A	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:150155724A>T	ENST00000325307.7	+	4	510	c.414A>T	c.(412-414)gaA>gaT	p.E138D	HMGB3_ENST00000448905.2_Missense_Mutation_p.E138D	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	138					DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACAGTGAAAAGCAGCCTT	0.488																																					p.E138D		Atlas-SNP	.											.	HMGB3	27	.	0			c.A414T						.						47.0	45.0	46.0					X																	150155724		2203	4297	6500	SO:0001583	missense	3149	exon4			CAGTGAAAAGCAG	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.414A>T	chrX.hg19:g.150155724A>T	ENSP00000359393:p.Glu138Asp	43.0	0.0		109.0	101.0	NM_005342	O95556|Q6NS40	Missense_Mutation	SNP	ENST00000325307.7	hg19	CCDS35428.1	.	.	.	.	.	.	.	.	.	.	a	5.724	0.318006	0.10845	.	.	ENSG00000029993	ENST00000419110;ENST00000325307;ENST00000455596;ENST00000448905;ENST00000430118	D;D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68;-3.68	5.05	-3.08	0.05347	High mobility group, HMG1/HMG2, subgroup (1);High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.127237	0.52532	D	0.000079	T	0.81341	0.4802	N	0.02192	-0.645	0.41426	D	0.987836	B	0.19200	0.034	B	0.24848	0.056	T	0.66763	-0.5841	10	0.02654	T	1	.	15.3324	0.74223	0.2667:0.0:0.7333:0.0	.	138	O15347	HMGB3_HUMAN	D	138	ENSP00000410354:E138D;ENSP00000359393:E138D;ENSP00000405601:E138D;ENSP00000442758:E138D;ENSP00000417027:E138D	ENSP00000359393:E138D	E	+	3	2	HMGB3	149906382	0.619000	0.27059	0.765000	0.31456	0.990000	0.78478	-0.130000	0.10498	-0.793000	0.04475	0.430000	0.28490	GAA	.	.		0.488	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342	
GABRQ	55879	hgsc.bcm.edu	37	X	151821044	151821044	+	Missense_Mutation	SNP	C	C	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:151821044C>A	ENST00000370306.2	+	9	1219	c.1199C>A	c.(1198-1200)cCc>cAc	p.P400H		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	400					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|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)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|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)	AGCTCTCTCCCCATCACCCCA	0.582																																					p.P400H		Atlas-SNP	.											.	GABRQ	131	.	0			c.C1199A						.						74.0	68.0	70.0					X																	151821044		2203	4300	6503	SO:0001583	missense	55879	exon9			CTCTCCCCATCAC	U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1199C>A	chrX.hg19:g.151821044C>A	ENSP00000359329:p.Pro400His	63.0	0.0		293.0	19.0	NM_018558	A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	hg19	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.279283	0.59758	.	.	ENSG00000147402	ENST00000370306	D	0.85629	-2.01	4.59	-0.767	0.11016	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.485053	0.15556	N	0.256196	T	0.74558	0.3732	L	0.46157	1.445	0.09310	N	1	B	0.12013	0.005	B	0.20767	0.031	T	0.62576	-0.6825	10	0.56958	D	0.05	.	0.591	0.00728	0.1747:0.3097:0.1684:0.3472	.	400	Q9UN88	GBRT_HUMAN	H	400	ENSP00000359329:P400H	ENSP00000359329:P400H	P	+	2	0	GABRQ	151571700	0.000000	0.05858	0.000000	0.03702	0.480000	0.33159	0.034000	0.13776	-0.294000	0.08973	0.600000	0.82982	CCC	.	.		0.582	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2	NM_018558	
PLXNB3	5365	hgsc.bcm.edu	37	X	153035604	153035604	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:153035604G>A	ENST00000361971.5	+	8	1801	c.1687G>A	c.(1687-1689)Gcg>Acg	p.A563T	PLXNB3_ENST00000538543.1_Missense_Mutation_p.A113T|PLXNB3_ENST00000538282.1_Missense_Mutation_p.A173T|PLXNB3_ENST00000538966.1_Missense_Mutation_p.A586T|PLXNB3_ENST00000538776.1_Missense_Mutation_p.A216T	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	563					axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCATTGTGCGTTCGGGGA	0.597																																					p.A586T		Atlas-SNP	.											.	PLXNB3	208	.	0			c.G1756A						.						99.0	89.0	93.0					X																	153035604		2203	4300	6503	SO:0001583	missense	5365	exon9			CATTGTGCGTTCG	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1687G>A	chrX.hg19:g.153035604G>A	ENSP00000355378:p.Ala563Thr	28.0	0.0		86.0	82.0	NM_001163257	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	hg19	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	8.755	0.922281	0.17982	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538543;ENST00000538282	T;T;T;T;T	0.68479	5.22;5.19;4.6;1.89;-0.33	5.06	4.19	0.49359	.	0.513595	0.21302	N	0.076798	T	0.50803	0.1637	L	0.31207	0.915	0.27042	N	0.963982	B;P;B;B;B	0.49696	0.058;0.927;0.216;0.081;0.209	B;P;B;B;B	0.45881	0.038;0.496;0.134;0.034;0.055	T	0.41124	-0.9526	10	0.11485	T	0.65	.	5.5958	0.17327	0.1085:0.1988:0.6926:0.0	.	216;245;113;586;563	B7Z3H9;B7Z9A5;F5GZZ4;F5H773;Q9ULL4	.;.;.;.;PLXB3_HUMAN	T	586;563;216;113;173	ENSP00000442736:A586T;ENSP00000355378:A563T;ENSP00000445569:A216T;ENSP00000444086:A113T;ENSP00000441919:A173T	ENSP00000355378:A563T	A	+	1	0	PLXNB3	152688798	0.818000	0.29161	1.000000	0.80357	0.300000	0.27592	0.267000	0.18552	2.090000	0.63153	0.529000	0.55759	GCG	.	.		0.597	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
IDH3G	3421	hgsc.bcm.edu	37	X	153055245	153055245	+	Missense_Mutation	SNP	G	G	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrX:153055245G>A	ENST00000217901.5	-	5	464	c.268C>T	c.(268-270)Cac>Tac	p.H90Y	IDH3G_ENST00000370093.1_Missense_Mutation_p.H90Y|IDH3G_ENST00000427365.2_Missense_Mutation_p.H32Y|IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000370092.3_Missense_Mutation_p.H90Y	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	90					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACTCACGTGCACCTCTTCA	0.647																																					p.H90Y		Atlas-SNP	.											.	IDH3G	36	.	0			c.C268T						.						86.0	59.0	68.0					X																	153055245		2202	4298	6500	SO:0001583	missense	3421	exon5			TCACGTGCACCTC		CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.268C>T	chrX.hg19:g.153055245G>A	ENSP00000217901:p.His90Tyr	9.0	0.0		69.0	16.0	NM_004135	E9PDD5|Q9BUU5	Missense_Mutation	SNP	ENST00000217901.5	hg19	CCDS14730.1	.	.	.	.	.	.	.	.	.	.	G	17.42	3.384208	0.61845	.	.	ENSG00000067829	ENST00000370092;ENST00000217901;ENST00000370093;ENST00000427365;ENST00000444450;ENST00000444338	T;T;T;T;T;T	0.66280	0.64;0.64;0.64;0.64;0.64;-0.2	5.34	5.34	0.76211	Isopropylmalate dehydrogenase-like domain (2);	0.281987	0.39020	N	0.001489	T	0.38825	0.1055	N	0.12569	0.235	0.26986	N	0.965255	P;B	0.34800	0.469;0.137	B;B	0.27380	0.079;0.035	T	0.25882	-1.0119	10	0.21014	T	0.42	.	12.0109	0.53286	0.0:0.0:0.8271:0.1729	.	90;90	E9PDD5;P51553	.;IDH3G_HUMAN	Y	90;90;90;32;67;1	ENSP00000359110:H90Y;ENSP00000217901:H90Y;ENSP00000359111:H90Y;ENSP00000408529:H32Y;ENSP00000401862:H67Y;ENSP00000402747:H1Y	ENSP00000217901:H90Y	H	-	1	0	IDH3G	152708439	0.965000	0.33210	1.000000	0.80357	0.955000	0.61496	3.048000	0.49862	2.238000	0.73509	0.529000	0.55759	CAC	.	.		0.647	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061084.27		
TGIF2LY	90655	hgsc.bcm.edu	37	Y	3447819	3447820	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chrY:3447819_3447820CC>AG	ENST00000559055.2	+	1	664_665	c.534_535CC>AG	c.(532-537)ccCCta>ccAGta	p.L179V	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.L179V			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	179					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			kidney(1)|upper_aerodigestive_tract(1)	2						GGAGTCGGCCCCTAGCCAGAAG	0.55																																					p.P178P|p.L179V		Atlas-SNP	.											.	TGIF2LY	6	.	0			c.C534A|c.C535G						.																																			SO:0001583	missense	90655	exon2			TCGGCCCCTAGCC|CGGCCCCTAGCCA	AF332223	CCDS14775.1	Yp11.2	2011-06-20	2007-02-07		ENSG00000176679	ENSG00000176679		"""Homeoboxes / TALE class"""	18569	protein-coding gene	gene with protein product		400025	"""TGFB-induced factor 2-like, Y-linked"""				Standard	NM_139214		Approved		uc004fqk.3	Q8IUE0	OTTHUMG00000036153	Exception_encountered	chrY.hg19:g.3447819_3447820delinsAG	ENSP00000453750:p.Leu179Val	50.0|51.0	0.0		143.0|146.0	18.0|19.0	NM_139214	A2VCU1	Silent|Missense_Mutation	SNP	ENST00000559055.2	hg19	CCDS14775.1																																																																																			.	.		0.550	TGIF2LY-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417915.2	NM_139214	
SLC30A10	55532	hgsc.bcm.edu	37	1	220091827	220091827	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:220091827delA	ENST00000366926.3	-	3	889	c.728delT	c.(727-729)ttgfs	p.L243fs	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	243					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		CATCACATGCAAAAGTACACC	0.517																																					p.L243fs	Colon(76;360 1614 43677 51136)	Atlas-Indel,Pindel	.											.	SLC30A10	58	.	0			c.729delG						.						116.0	108.0	111.0					1																	220091827		2203	4300	6503	SO:0001589	frameshift_variant	55532	exon3			.	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.728delT	chr1.hg19:g.220091827delA	ENSP00000355893:p.Leu243fs	24.0	0.0		116.0	72.0	NM_018713	Q49AL9|Q9NPW0	Frame_Shift_Del	DEL	ENST00000366926.3	hg19	CCDS31026.1																																																																																			.	.		0.517	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713	
SLC39A5	283375	hgsc.bcm.edu	37	12	56628734	56628739	+	In_Frame_Del	DEL	GCTCCG	GCTCCG	-	rs61731625|rs371921611	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	GCTCCG	GCTCCG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:56628734_56628739delGCTCCG	ENST00000266980.4	+	4	891_896	c.598_603delGCTCCG	c.(598-603)gctccgdel	p.AP204del	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_In_Frame_Del_p.AP204del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	204					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGCATCGGCGCTCCGGCCCCTGCAC	0.612																																					p.199_201del		Atlas-Indel,Pindel	.											.	SLC39A5	52	.	0			c.597_602del						.		,	3,4261		0,3,2129					,	-0.4	0.2			91	8,8246		0,8,4119	no	coding,coding	SLC39A5	NM_173596.2,NM_001135195.1	,	0,11,6248	A1A1,A1R,RR		0.0969,0.0704,0.0879	,	,		11,12507				SO:0001651	inframe_deletion	283375	exon6			.		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.598_603delGCTCCG	chr12.hg19:g.56628734_56628739delGCTCCG	ENSP00000266980:p.Ala204_Pro205del	16.0	0.0		55.0	23.0	NM_173596	B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	hg19	CCDS8912.2																																																																																			.	.		0.612	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596	
ELL2	22936	hgsc.bcm.edu	37	5	95226963	95226963	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:95226963delG	ENST00000237853.4	-	10	1954	c.1605delC	c.(1603-1605)atcfs	p.I535fs	ELL2_ENST00000431061.2_Frame_Shift_Del_p.I285fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	535					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CATAGGAGACGATAGCGATAT	0.363																																					p.V536fs		Atlas-INDEL	.											.	ELL2	63	.	0			c.1606delG						.						107.0	102.0	104.0					5																	95226963		2203	4300	6503	SO:0001589	frameshift_variant	22936	exon10			.	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.1605delC	chr5.hg19:g.95226963delG	ENSP00000237853:p.Ile535fs	49.0	0.0		82.0	11.0	NM_012081	B4DNK7	Frame_Shift_Del	DEL	ENST00000237853.4	hg19	CCDS4080.1																																																																																			.	.		0.363	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081	
ALB	213	hgsc.bcm.edu	37	4	74283297	74283298	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:74283297_74283298insT	ENST00000503124.1	+	9	1096_1097	c.889_890insT	c.(889-891)cttfs	p.L297fs	ALB_ENST00000295897.4_Frame_Shift_Ins_p.L447fs|ALB_ENST00000509063.1_Frame_Shift_Ins_p.L447fs|ALB_ENST00000505649.1_Intron|ALB_ENST00000401494.3_Frame_Shift_Ins_p.L332fs|ALB_ENST00000415165.2_Frame_Shift_Ins_p.L255fs			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACTCCAACTCTTGTAGAGGTC	0.401																																					p.L447fs		Atlas-Indel,Pindel	.											.	ALB	132	.	0			c.1339_1340insT						.																																			SO:0001589	frameshift_variant	213	exon11			.	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.891dupT	chr4.hg19:g.74283299_74283299dupT	ENSP00000421027:p.Leu297fs	77.0	0.0		217.0	33.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Frame_Shift_Ins	INS	ENST00000503124.1	hg19																																																																																				.	.		0.401	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000365419.1	NM_000477	
COL20A1	57642	hgsc.bcm.edu	37	20	61938948	61938948	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:61938948delC	ENST00000358894.6	+	6	703	c.603delC	c.(601-603)ttcfs	p.F201fs	COL20A1_ENST00000422202.1_Frame_Shift_Del_p.F208fs|COL20A1_ENST00000326996.6_Frame_Shift_Del_p.F201fs|COL20A1_ENST00000435874.1_Frame_Shift_Del_p.F208fs	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	201	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TCAAGGACTTCCTGGCCAGTG	0.657																																					p.F201fs		Atlas-Indel,Pindel	.											.	COL20A1	137	.	0			c.602delT						.			1,3941		0,1,1970	43.0	49.0	47.0			3.9	1.0	20		47	3,8037		1,1,4018	no	frameshift	COL20A1	NM_020882.2		1,2,5988	A1A1,A1R,RR		0.0373,0.0254,0.0334			61938948	4,11978	2055	4193	6248	SO:0001589	frameshift_variant	57642	exon6			.	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.603delC	chr20.hg19:g.61938948delC	ENSP00000351767:p.Phe201fs	31.0	0.0		62.0	24.0	NM_020882	Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Frame_Shift_Del	DEL	ENST00000358894.6	hg19	CCDS46628.1																																																																																			.	.		0.657	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882	
PLCG1	5335	hgsc.bcm.edu	37	20	39792450	39792451	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr20:39792450_39792451insT	ENST00000373271.1	+	10	1392_1393	c.987_988insT	c.(988-990)tggfs	p.W330fs	PLCG1_ENST00000373272.2_Frame_Shift_Ins_p.W330fs|PLCG1_ENST00000244007.3_Frame_Shift_Ins_p.W330fs	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	330	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TTTCCCACTACTGGATCTCCTC	0.559																																					p.Y329fs		Atlas-Indel,Pindel	.											.	PLCG1	111	.	0			c.987_988insT						.																																			SO:0001589	frameshift_variant	5335	exon10			.	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.988dupT	chr20.hg19:g.39792451_39792451dupT	ENSP00000362368:p.Trp330fs	63.0	0.0		187.0	22.0	NM_182811	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Frame_Shift_Ins	INS	ENST00000373271.1	hg19	CCDS13314.1																																																																																			.	.		0.559	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811	
MGA	23269	hgsc.bcm.edu	37	15	42028515	42028522	+	Frame_Shift_Del	DEL	TTTGAGCA	TTTGAGCA	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	TTTGAGCA	TTTGAGCA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr15:42028515_42028522delTTTGAGCA	ENST00000570161.1	+	12	4053_4060	c.4053_4060delTTTGAGCA	c.(4051-4062)attttgagcatcfs	p.ILSI1351fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.ILSI1351fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.ILSI1351fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.ILSI1351fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.ILSI1351fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.S1353N(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGAACAAGATTTTGAGCATCTTATCCCA	0.471																																					p.1351_1353del		Atlas-Indel,Pindel	.											.	MGA	264	.	1	Substitution - Missense(1)	endometrium(1)	c.4052_4059del						.																																			SO:0001589	frameshift_variant	23269	exon13			.	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.4053_4060delTTTGAGCA	chr15.hg19:g.42028515_42028522delTTTGAGCA	ENSP00000457035:p.Ile1351fs	87.0	0.0		129.0	39.0	NM_001080541	Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	hg19	CCDS55959.1																																																																																			.	.		0.471	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	
SUV39H2	79723	hgsc.bcm.edu	37	10	14939003	14939003	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:14939003delA	ENST00000354919.6	+	3	336	c.336delA	c.(334-336)ccafs	p.P112fs	SUV39H2_ENST00000313519.5_Frame_Shift_Del_p.P52fs|SUV39H2_ENST00000378325.3_Intron	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	112					cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						CAATAACTCCAAAAGACAATA	0.378																																					p.P112fs		Atlas-Indel,Pindel	.											.	SUV39H2	72	.	0			c.335delC						.						66.0	65.0	65.0					10																	14939003		2203	4300	6503	SO:0001589	frameshift_variant	79723	exon3			.	AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.336delA	chr10.hg19:g.14939003delA	ENSP00000346997:p.Pro112fs	33.0	0.0		64.0	15.0	NM_001193424	D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Frame_Shift_Del	DEL	ENST00000354919.6	hg19	CCDS53494.1																																																																																			.	.		0.378	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046947.2	NM_024670	
CCDC43	124808	hgsc.bcm.edu	37	17	42756390	42756391	+	Frame_Shift_Ins	INS	-	-	GT			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:42756390_42756391insGT	ENST00000315286.8	-	5	516_517	c.508_509insAC	c.(508-510)gtgfs	p.V170fs	CCDC43_ENST00000457422.2_Frame_Shift_Ins_p.C150fs|C17orf104_ENST00000588805.1_3'UTR|RP11-1072C15.4_ENST00000591628.1_RNA|CCDC43_ENST00000588210.1_Frame_Shift_Ins_p.V173fs	NM_144609.2	NP_653210.2	Q96MW1	CCD43_HUMAN	coiled-coil domain containing 43	170										lung(2)	2		Prostate(33;0.0322)				GACATCTTCCACATTGGTGTTT	0.475																																					p.V170fs		Atlas-INDEL	.											.	CCDC43	34	.	0			c.509_510insAC						.																																			SO:0001589	frameshift_variant	124808	exon5			.	AK056357	CCDS45704.1, CCDS45705.1	17q21.31	2005-12-16							26472	protein-coding gene	gene with protein product						12477932	Standard	NM_001099225		Approved	FLJ31795	uc002ihc.2	Q96MW1		ENST00000315286.8:c.508_509insAC	chr17.hg19:g.42756390_42756391insGT	ENSP00000323782:p.Val170fs	97.0	0.0		196.0	30.0	NM_144609	C9JVK9	Frame_Shift_Ins	INS	ENST00000315286.8	hg19	CCDS45704.1																																																																																			.	.		0.475	CCDC43-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457812.1	NM_144609	
RB1	5925	hgsc.bcm.edu	37	13	48947605	48947606	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:48947605_48947606insA	ENST00000267163.4	+	12	1330_1331	c.1192_1193insA	c.(1192-1194)gaafs	p.E398fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	398	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.E398L(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TCAACCTTCAGAAAATCTGATT	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																											p.E398fs		Atlas-Indel,Pindel	.	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	.,1	RB1	1068	.	25	Whole gene deletion(15)|Unknown(8)|Substitution - Missense(2)	bone(11)|breast(5)|central_nervous_system(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	c.1192_1193insA						.																																			SO:0001589	frameshift_variant	5925	exon12	Familial Cancer Database		.	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1196dupA	chr13.hg19:g.48947609_48947609dupA	ENSP00000267163:p.Glu398fs	146.0	0.0		609.0	110.0	NM_000321	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Ins	INS	ENST00000267163.4	hg19	CCDS31973.1																																																																																			.	.		0.287	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
ALB	213	hgsc.bcm.edu	37	4	74274521	74274524	+	Splice_Site	DEL	AAGT	AAGT	-	rs17853494		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	AAGT	AAGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:74274521_74274524delAAGT	ENST00000295897.4	+	4	570_571	c.481_482delAAGT	c.(481-483)aag>g	p.K161fs	ALB_ENST00000509063.1_Splice_Site_p.K161fs|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Intron|ALB_ENST00000415165.2_Intron|ALB_ENST00000503124.1_Intron	NM_000477.5	NP_000468.1	Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTTTGAAAAAGTAAGTAATCAG	0.348																																					p.160_161del		Atlas-Indel,Pindel	.											.	ALB	132	.	0			c.480_482del						.																																			SO:0001630	splice_region_variant	213	exon4			.	V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000295897.4:c.482+1AAGT>-	chr4.hg19:g.74274525_74274528delAAGT		55.0	0.0		86.0	32.0	NM_000477	B5MEM5|Q96IF6|Q96JG4|Q96MA8	In_Frame_Del	DEL	ENST00000295897.4	hg19	CCDS3555.1																																																																																			.	.		0.348	ALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252173.3	NM_000477	Frame_Shift_Del
NBEA	26960	hgsc.bcm.edu	37	13	36229035	36229036	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr13:36229035_36229036insC	ENST00000400445.3	+	53	8550_8551	c.8016_8017insC	c.(8017-8019)gacfs	p.D2673fs	NBEA_ENST00000310336.4_Frame_Shift_Ins_p.D2673fs|NBEA_ENST00000379922.3_Frame_Shift_Ins_p.D251fs|NBEA_ENST00000537702.1_Frame_Shift_Ins_p.D466fs|NBEA_ENST00000540320.1_Frame_Shift_Ins_p.D2673fs|NBEA_ENST00000379939.2_Frame_Shift_Ins_p.D2670fs	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2673					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CAGACCTCGTTGACCAGAGTAT	0.366																																					p.V2672fs		Atlas-Indel,Pindel	.											.	NBEA	340	.	0			c.8016_8017insC						.																																			SO:0001589	frameshift_variant	26960	exon53			.	AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	Exception_encountered	chr13.hg19:g.36229035_36229036insC	ENSP00000383295:p.Asp2673fs	59.0	0.0		112.0	22.0	NM_015678	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Frame_Shift_Ins	INS	ENST00000400445.3	hg19	CCDS45026.1																																																																																			.	.		0.366	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_015678	
GALNT4	8693	hgsc.bcm.edu	37	12	89916661	89916662	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:89916661_89916662insA	ENST00000529983.2	-	1	1921_1922	c.1665_1666insT	c.(1663-1668)gagggcfs	p.G556fs	POC1B_ENST00000549504.1_Intron|POC1B_ENST00000549035.1_Intron|RP11-734K2.4_ENST00000605233.1_RNA|POC1B_ENST00000541909.1_Intron|GALNT4_ENST00000413530.1_Frame_Shift_Ins_p.G384fs|POC1B_ENST00000393179.4_Intron|POC1B_ENST00000313546.3_Intron|POC1B-GALNT4_ENST00000547474.1_3'UTR|POC1B-GALNT4_ENST00000548729.1_Frame_Shift_Ins_p.G553fs	NM_003774.4	NP_003765.2	Q8N4A0	GALT4_HUMAN	polypeptide N-acetylgalactosaminyltransferase 4	556	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						TCAGGTCGGCCCTCCGGTGTCC	0.416																																					p.G556fs		Atlas-INDEL	.											.	GALNT4	38	.	0			c.1666_1667insT						.																																			SO:0001589	frameshift_variant	8693	exon1			.	Y08564	CCDS53817.1	12q21.33	2014-03-13	2014-03-13		ENSG00000257594	ENSG00000257594	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4126	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 4"""	603565	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4)"""			9804815	Standard	NM_003774		Approved	GalNAc-T4	uc001tbd.3	Q8N4A0	OTTHUMG00000166292	ENST00000529983.2:c.1665_1666insT	chr12.hg19:g.89916661_89916662insA	ENSP00000436604:p.Gly556fs	113.0	0.0		196.0	26.0	NM_003774	B2R775|B4DMX6|O00208	Frame_Shift_Ins	INS	ENST00000529983.2	hg19	CCDS53817.1																																																																																			.	.		0.416	GALNT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388973.2	NM_003774	
MED24	9862	hgsc.bcm.edu	37	17	38179422	38179422	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:38179422delT	ENST00000394128.2	-	20	2293	c.2212delA	c.(2212-2214)atgfs	p.M738fs	MED24_ENST00000501516.3_Frame_Shift_Del_p.M757fs|MED24_ENST00000394126.1_Frame_Shift_Del_p.M763fs|MED24_ENST00000394127.2_Frame_Shift_Del_p.M725fs|MED24_ENST00000356271.3_Frame_Shift_Del_p.M725fs	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	738					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					ACGCCGCCCATGTGCAGCAGG	0.602																																					p.M738fs		Atlas-INDEL	.											.	MED24	89	.	0			c.2213delT						.						69.0	64.0	65.0					17																	38179422		2203	4300	6503	SO:0001589	frameshift_variant	9862	exon20			.	AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.2212delA	chr17.hg19:g.38179422delT	ENSP00000377686:p.Met738fs	26.0	0.0		97.0	22.0	NM_014815	A8K4S5|B3KMR9|Q14143|Q9NNY5	Frame_Shift_Del	DEL	ENST00000394128.2	hg19	CCDS11359.1																																																																																			.	.		0.602	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257147.2	NM_014815	
ARID1A	8289	hgsc.bcm.edu	37	1	27087894	27087898	+	Frame_Shift_Del	DEL	GCCAC	GCCAC	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	GCCAC	GCCAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:27087894_27087898delGCCAC	ENST00000324856.7	+	6	2552_2556	c.2181_2185delGCCAC	c.(2179-2187)cggccacccfs	p.PP728fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PP728fs|RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PP345fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	728					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.R727fs*12(1)|p.P728fs(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)		TGCCACCTCGGCCACCCAGTGGCCA	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																p.727_728del		Atlas-Indel,Pindel	.		Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	.,1	ARID1A	842	.	2	Deletion - Frameshift(1)|Complex(1)	ovary(1)|liver(1)	c.2180_2184del						.																																			SO:0001589	frameshift_variant	8289	exon6			.	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.2181_2185delGCCAC	chr1.hg19:g.27087894_27087898delGCCAC	ENSP00000320485:p.Pro728fs	119.0	0.0		280.0	26.0	NM_139135	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	hg19	CCDS285.1																																																																																			.	.		0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135	
SLC5A1	6523	hgsc.bcm.edu	37	22	32480424	32480440	+	Splice_Site	DEL	TCCAGCTTTTCACGAAG	TCCAGCTTTTCACGAAG	-	rs200105615|rs145490212		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	TCCAGCTTTTCACGAAG	TCCAGCTTTTCACGAAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:32480424_32480440delTCCAGCTTTTCACGAAG	ENST00000266088.4	+	8	914_929	c.664_679delTCCAGCTTTTCACGAAG	c.(664-681)tccagcttttcacgaagg>gg	p.SSFSRR222fs	SLC5A1_ENST00000543737.1_Splice_Site_p.SSFSRR95fs	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	222					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intestinal absorption (GO:0050892)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glucose:sodium symporter activity (GO:0005412)			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37					Canagliflozin(DB08907)	GATGTTTTCCAGCTTTTCACGAAGTGGGAGGCTATGA	0.461																																					p.222_225del		Atlas-Indel,Pindel	.											.	SLC5A1	80	.	0			c.665_675del						.																																			SO:0001630	splice_region_variant	6523	exon8			.		CCDS13902.1, CCDS58805.1	22q12.3	2013-05-22			ENSG00000100170	ENSG00000100170		"""Solute carriers"""	11036	protein-coding gene	gene with protein product	"""sodium/glucose cotransporter 1"""	182380		SGLT1		8195156	Standard	NM_000343		Approved	D22S675, NAGT	uc003amc.3	P13866	OTTHUMG00000030768	ENST00000266088.4:c.665-1TCCAGCTTTTCACGAAG>-	chr22.hg19:g.32480424_32480440delTCCAGCTTTTCACGAAG		41.0	0.0		95.0	22.0	NM_000343	B2R7E2|B7Z4Q9|B7ZA69	Frame_Shift_Del	DEL	ENST00000266088.4	hg19	CCDS13902.1																																																																																			.	.		0.461	SLC5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075656.3	NM_000343	Frame_Shift_Del
NOTCH2	4853	hgsc.bcm.edu	37	1	120461966	120461966	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:120461966delG	ENST00000256646.2	-	31	5969	c.5750delC	c.(5749-5751)gcafs	p.A1917fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1917					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCTGCCACTGCAGCATGGAG	0.502			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.A1917fs		Atlas-INDEL	.		Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	NOTCH2	348	.	0			c.5751delA						.						63.0	60.0	61.0					1																	120461966		2203	4300	6503	SO:0001589	frameshift_variant	4853	exon31	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	.	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.5750delC	chr1.hg19:g.120461966delG	ENSP00000256646:p.Ala1917fs	29.0	0.0		65.0	17.0	NM_024408	Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	hg19	CCDS908.1																																																																																			.	.		0.502	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
DNAH7	56171	hgsc.bcm.edu	37	2	196825220	196825220	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:196825220delT	ENST00000312428.6	-	18	2755	c.2655delA	c.(2653-2655)atafs	p.I885fs		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	885	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAAATCGGTCTATATATGGTT	0.438																																					p.D886fs		Atlas-INDEL	.											.	DNAH7	512	.	0			c.2656delG						.						109.0	106.0	107.0					2																	196825220		1864	4110	5974	SO:0001589	frameshift_variant	56171	exon18			.	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2655delA	chr2.hg19:g.196825220delT	ENSP00000311273:p.Ile885fs	75.0	0.0		216.0	17.0	NM_018897	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Frame_Shift_Del	DEL	ENST00000312428.6	hg19	CCDS42794.1																																																																																			.	.		0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	
ALDH1L2	160428	hgsc.bcm.edu	37	12	105431912	105431919	+	Frame_Shift_Del	DEL	TTAAATAT	TTAAATAT	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	TTAAATAT	TTAAATAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:105431912_105431919delTTAAATAT	ENST00000258494.9	-	18	2247_2254	c.2107_2114delATATTTAA	c.(2107-2115)atatttaatfs	p.IFN703fs	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	703	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						TTCACAGTCATTAAATATTATAAGTGGA	0.423																																					p.703_705del		Atlas-Indel,Pindel	.											.	ALDH1L2	71	.	0			c.2108_2115del						.																																			SO:0001589	frameshift_variant	160428	exon18			.	AK095827	CCDS31891.1	12q23.3	2014-09-11			ENSG00000136010	ENSG00000136010	1.5.1.6	"""Aldehyde dehydrogenases"""	26777	protein-coding gene	gene with protein product	"""mitochondrial 10-formyltetrahydrofolate dehydrogenase"""	613584				20498374	Standard	NM_001034173		Approved	FLJ38508, mtFDH	uc001tlc.3	Q3SY69	OTTHUMG00000169823	ENST00000258494.9:c.2107_2114delATATTTAA	chr12.hg19:g.105431912_105431919delTTAAATAT	ENSP00000258494:p.Ile703fs	56.0	0.0		105.0	34.0	NM_001034173	Q3SY68|Q68D62|Q6AI55|Q8N922	Frame_Shift_Del	DEL	ENST00000258494.9	hg19	CCDS31891.1																																																																																			.	.		0.423	ALDH1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406098.1	XM_090294	
TCHHL1	126637	hgsc.bcm.edu	37	1	152057483	152057486	+	Frame_Shift_Del	DEL	CTCT	CTCT	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	CTCT	CTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:152057483_152057486delCTCT	ENST00000368806.1	-	3	2736_2739	c.2672_2675delAGAG	c.(2671-2676)gagaggfs	p.ER891fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	891							calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TAGTACCAGCCTCTCTCTCTGAGG	0.505																																					p.891_892del		Atlas-Indel,Pindel	.											.	TCHHL1	132	.	0			c.2673_2676del						.																																			SO:0001589	frameshift_variant	126637	exon3			.		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2672_2675delAGAG	chr1.hg19:g.152057487_152057490delCTCT	ENSP00000357796:p.Glu891fs	108.0	0.0		402.0	76.0	NM_001008536	B2RPK8|Q5VTJ9	Frame_Shift_Del	DEL	ENST00000368806.1	hg19	CCDS30857.1																																																																																			.	.		0.505	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104	
CEP170	9859	hgsc.bcm.edu	37	1	243327863	243327876	+	Frame_Shift_Del	DEL	AGAACTTGTTGTGG	AGAACTTGTTGTGG	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	AGAACTTGTTGTGG	AGAACTTGTTGTGG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:243327863_243327876delAGAACTTGTTGTGG	ENST00000366542.1	-	13	3437_3450	c.3386_3399delCCACAACAAGTTCT	c.(3385-3399)tccacaacaagttctfs	p.STTSS1129fs	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Frame_Shift_Del_p.STTSS1031fs|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366544.1_Frame_Shift_Del_p.STTSS1031fs|RP11-261C10.4_ENST00000437499.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1129	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTTTGATGTAGAACTTGTTGTGGATACTTCAGA	0.491																																					p.1129_1134del		Atlas-Indel,Pindel	.											.	CEP170	153	.	0			c.3387_3400del						.																																			SO:0001589	frameshift_variant	9859	exon13			.	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3386_3399delCCACAACAAGTTCT	chr1.hg19:g.243327863_243327876delAGAACTTGTTGTGG	ENSP00000355500:p.Ser1129fs	151.0	0.0		655.0	44.0	NM_014812	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Frame_Shift_Del	DEL	ENST00000366542.1	hg19	CCDS44339.1																																																																																			.	.		0.491	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
RXRB	6257	hgsc.bcm.edu	37	6	33166198	33166198	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr6:33166198delG	ENST00000374680.3	-	3	738	c.527delC	c.(526-528)cctfs	p.P176fs	RXRB_ENST00000544186.1_Intron|SLC39A7_ENST00000374675.3_5'Flank|RXRB_ENST00000413614.2_Frame_Shift_Del_p.P80fs|RXRB_ENST00000374685.4_Frame_Shift_Del_p.P176fs|SLC39A7_ENST00000374677.3_5'Flank|RNY4P10_ENST00000365571.1_RNA	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	176	Modulating. {ECO:0000250}.|Pro-rich.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACATCTTCAGGGGGGCCAGA	0.592																																					p.P176fs		Atlas-INDEL	.											.	RXRB	34	.	0			c.528delT						.						94.0	114.0	107.0					6																	33166198		1508	2707	4215	SO:0001589	frameshift_variant	6257	exon3			.	M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.527delC	chr6.hg19:g.33166198delG	ENSP00000363812:p.Pro176fs	25.0	0.0		112.0	10.0	NM_001270401	P28703|Q59G65|Q5JP92|Q5STQ1	Frame_Shift_Del	DEL	ENST00000374680.3	hg19	CCDS4768.1																																																																																			.	.		0.592	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076642.2	NM_021976	
PCDH15	65217	hgsc.bcm.edu	37	10	56106175	56106177	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	CAT	CAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:56106175_56106177delCAT	ENST00000320301.6	-	6	936_938	c.542_544delATG	c.(541-546)gatgga>gga	p.D181del	PCDH15_ENST00000395433.1_In_Frame_Del_p.D159del|PCDH15_ENST00000361849.3_In_Frame_Del_p.D181del|PCDH15_ENST00000395446.1_In_Frame_Del_p.D181del|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.D181del|PCDH15_ENST00000395432.2_In_Frame_Del_p.D181del|AC013737.1_ENST00000583830.1_RNA|PCDH15_ENST00000373965.2_In_Frame_Del_p.D181del|PCDH15_ENST00000395440.1_In_Frame_Del_p.D181del|PCDH15_ENST00000414778.1_In_Frame_Del_p.D186del|PCDH15_ENST00000395442.1_In_Frame_Del_p.D181del|PCDH15_ENST00000395438.1_In_Frame_Del_p.D181del|PCDH15_ENST00000373957.3_In_Frame_Del_p.D159del|PCDH15_ENST00000395445.1_In_Frame_Del_p.D181del|PCDH15_ENST00000373955.1_In_Frame_Del_p.D181del|PCDH15_ENST00000395430.1_In_Frame_Del_p.D181del	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	181	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCATTTGGTCCATCATCTATATC	0.315										HNSCC(58;0.16)																											p.186_187del		Atlas-Indel,Pindel	.											.	PCDH15	1715	.	0			c.558_560del						.																																			SO:0001651	inframe_deletion	65217	exon7			.	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.542_544delATG	chr10.hg19:g.56106178_56106180delCAT	ENSP00000322604:p.Asp181del	65.0	0.0		166.0	13.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	hg19	CCDS7248.1																																																																																			.	.		0.315	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
POTEM	641455	hgsc.bcm.edu	37	14	20000537	20000537	+	Splice_Site	DEL	C	C	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:20000537delC	ENST00000551509.1	-	8	1249	c.1198delG	c.(1198-1200)gaa>aa	p.E400fs		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	400										endometrium(4)|kidney(1)|lung(4)	9						TGAGACATTTCCTGCAGATGC	0.289																																					p.E400fs		Atlas-Indel,Pindel	.											.	POTEM	51	.	0			c.1199delA						.						1.0	0.0	1.0					14																	20000537		1	0	1	SO:0001630	splice_region_variant	641455	exon8			.		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.1198-1G>-	chr14.hg19:g.20000537delC		197.0	0.0		1473.0	239.0	NM_001145442		Frame_Shift_Del	DEL	ENST00000551509.1	hg19	CCDS45076.1																																																																																			.	.		0.289	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442	Frame_Shift_Del
IFT81	28981	hgsc.bcm.edu	37	12	110581329	110581331	+	In_Frame_Del	DEL	TCT	TCT	-	rs372365248		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	TCT	TCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr12:110581329_110581331delTCT	ENST00000242591.5	+	9	1430_1432	c.924_926delTCT	c.(922-927)gatctt>gat	p.L310del	IFT81_ENST00000361948.4_In_Frame_Del_p.L310del|IFT81_ENST00000552912.1_In_Frame_Del_p.L310del|IFT81_ENST00000549009.1_3'UTR	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81	310					cilium assembly (GO:0042384)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|spermatogenesis (GO:0007283)	centrosome (GO:0005813)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)	tubulin binding (GO:0015631)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						GCCATTCTGATCTTCTTGAACTT	0.305																																					p.308_309del		Atlas-Indel,Pindel	.											.	IFT81	86	.	0			c.923_925del						.																																			SO:0001651	inframe_deletion	28981	exon9			.	AF139540	CCDS9142.1, CCDS41831.1	12q24.13	2014-07-03	2014-07-03	2005-11-02		ENSG00000122970		"""Intraflagellar transport homologs"""	14313	protein-coding gene	gene with protein product		605489	"""carnitine deficiency-associated, expressed in ventricle 1"", ""intraflagellar transport 81 homolog (Chlamydomonas)"""	CDV1		11130971	Standard	NM_014055		Approved	CDV-1R, MGC4027	uc001tqi.3	Q8WYA0	OTTHUMG00000169326	ENST00000242591.5:c.924_926delTCT	chr12.hg19:g.110581332_110581334delTCT	ENSP00000242591:p.Leu310del	85.0	0.0		142.0	45.0	NM_014055	Q2YDY1|Q8NB51|Q9BSV2|Q9UNY8	In_Frame_Del	DEL	ENST00000242591.5	hg19	CCDS41831.1																																																																																			.	.		0.305	IFT81-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403529.1	NM_014055	
ANKRD1	27063	hgsc.bcm.edu	37	10	92679010	92679011	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr10:92679010_92679011insT	ENST00000371697.3	-	3	470_471	c.222_223insA	c.(220-225)aaactafs	p.L75fs		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	75					cardiac muscle tissue morphogenesis (GO:0055008)|cellular lipid metabolic process (GO:0044255)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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 projection development (GO:0010976)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|skeletal muscle cell differentiation (GO:0035914)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I band (GO:0031674)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|p53 binding (GO:0002039)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|titin binding (GO:0031432)|transcription corepressor activity (GO:0003714)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				CTTTGTTCTAGTTTTTTCTTTT	0.302																																					p.L75fs		Atlas-INDEL	.											ANKRD1,NS,carcinoma,0,1	ANKRD1	50	.	0			c.223_224insA						.			1,4253		0,1,2126						4.9	1.0			47	1,8245		0,1,4122	no	frameshift	ANKRD1	NM_014391.2		0,2,6248	A1A1,A1R,RR		0.0121,0.0235,0.016				2,12498				SO:0001589	frameshift_variant	27063	exon3			.	X83703	CCDS7412.1	10q23.33	2014-09-17			ENSG00000148677	ENSG00000148677		"""Ankyrin repeat domain containing"""	15819	protein-coding gene	gene with protein product		609599				7730328	Standard	NM_014391		Approved	C-193, ALRP, CARP, CVARP, MCARP	uc001khe.1	Q15327	OTTHUMG00000018734	ENST00000371697.3:c.223dupA	chr10.hg19:g.92679016_92679016dupT	ENSP00000360762:p.Leu75fs	71.0	0.0		66.0	11.0	NM_014391	Q96LE7	Frame_Shift_Ins	INS	ENST00000371697.3	hg19	CCDS7412.1																																																																																			.	.		0.302	ANKRD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049357.1	NM_014391	
C8A	731	hgsc.bcm.edu	37	1	57349332	57349339	+	Frame_Shift_Del	DEL	AATTAAAC	AATTAAAC	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	AATTAAAC	AATTAAAC	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr1:57349332_57349339delAATTAAAC	ENST00000361249.3	+	6	929_936	c.833_840delAATTAAAC	c.(832-840)gaattaaacfs	p.ELN278fs		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	278	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TTCTTGAACGAATTAAACAAGTATAATG	0.399																																					p.278_280del		Atlas-Indel,Pindel	.											C8A,NS,malignant_melanoma,0,3	C8A	103	.	0			c.832_839del						.																																			SO:0001589	frameshift_variant	731	exon6			.	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.833_840delAATTAAAC	chr1.hg19:g.57349332_57349339delAATTAAAC	ENSP00000354458:p.Glu278fs	32.0	0.0		63.0	16.0	NM_000562	A2RUI4|A2RUI5|Q13668|Q9H130	Frame_Shift_Del	DEL	ENST00000361249.3	hg19	CCDS606.1																																																																																			.	.		0.399	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
NFE2L2	4780	hgsc.bcm.edu	37	2	178098961	178098963	+	In_Frame_Del	DEL	TAT	TAT	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	TAT	TAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:178098961_178098963delTAT	ENST00000397062.3	-	2	636_638	c.82_84delATA	c.(82-84)atadel	p.I28del	NFE2L2_ENST00000423513.1_In_Frame_Del_p.I12del|NFE2L2_ENST00000397063.4_In_Frame_Del_p.I12del|NFE2L2_ENST00000464747.1_In_Frame_Del_p.I12del|NFE2L2_ENST00000446151.2_In_Frame_Del_p.I12del	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	28					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I28T(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTCCAAGATCTATATCTTGCCTC	0.36			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																											p.28_29del		Atlas-Indel,Pindel	.		Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	NFE2L2,bladder,carcinoma,0,18	NFE2L2	225	.	1	Substitution - Missense(1)	lung(1)	c.83_85del						.																																			SO:0001651	inframe_deletion	4780	exon2			.		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.82_84delATA	chr2.hg19:g.178098961_178098963delTAT	ENSP00000380252:p.Ile28del	78.0	0.0		92.0	30.0	NM_006164	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	In_Frame_Del	DEL	ENST00000397062.3	hg19	CCDS42782.1																																																																																			.	.		0.360	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164	
ZNF264	9422	hgsc.bcm.edu	37	19	57723451	57723453	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	GCT	GCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr19:57723451_57723453delGCT	ENST00000263095.6	+	4	1400_1402	c.986_988delGCT	c.(985-990)ggcttt>gtt	p.329_330GF>V	ZNF264_ENST00000536056.1_In_Frame_Del_p.329_330GF>V	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	329					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(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CATAGGCCAGGCTTTCTCCGGCA	0.488																																					p.329_329del		Atlas-INDEL	.											.	ZNF264	65	.	0			c.985_987del						.																																			SO:0001651	inframe_deletion	9422	exon4			.	AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.986_988delGCT	chr19.hg19:g.57723451_57723453delGCT	ENSP00000263095:p.Gly329_Phe330delinsVal	40.0	0.0		85.0	16.0	NM_003417	A8K8Y9|Q9P1V0	In_Frame_Del	DEL	ENST00000263095.6	hg19	CCDS33127.1																																																																																			.	.		0.488	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465080.1		
GABRA2	2555	hgsc.bcm.edu	37	4	46390679	46390679	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr4:46390679delA	ENST00000510861.1	-	2	218	c.45delT	c.(43-45)tttfs	p.F15fs	RP11-436F23.1_ENST00000502455.1_RNA|GABRA2_ENST00000381620.4_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000507460.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000540012.1_5'UTR|GABRA2_ENST00000507069.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000356504.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000509716.1_5'UTR|GABRA2_ENST00000515082.1_Frame_Shift_Del_p.F15fs|GABRA2_ENST00000514090.1_Frame_Shift_Del_p.F15fs			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	15					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCAAGAAAACAAAAAGCAGGA	0.373																																					p.V16fs		Atlas-Indel,Pindel	.											.	GABRA2	134	.	0			c.46delG						.						157.0	155.0	156.0					4																	46390679		2203	4300	6503	SO:0001589	frameshift_variant	2555	exon1			.		CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.45delT	chr4.hg19:g.46390679delA	ENSP00000421828:p.Phe15fs	143.0	0.0		499.0	38.0	NM_001114175	A8K0U7|B7Z1H8|Q59G14	Frame_Shift_Del	DEL	ENST00000510861.1	hg19	CCDS3471.1																																																																																			.	.		0.373	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360848.2		
ZNF267	10308	hgsc.bcm.edu	37	16	31927200	31927200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr16:31927200delG	ENST00000300870.10	+	4	1839	c.1630delG	c.(1630-1632)ggafs	p.G544fs		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	544					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)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AATTCATACTGGAGAGAAACC	0.338																																					p.T543fs		Atlas-INDEL	.											.	ZNF267	94	.	0			c.1629delT						.						38.0	42.0	40.0					16																	31927200		2196	4299	6495	SO:0001589	frameshift_variant	10308	exon4			.	X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1630delG	chr16.hg19:g.31927200delG	ENSP00000300870:p.Gly544fs	24.0	0.0		65.0	10.0	NM_003414	A0JNZ9|Q8NE41|Q9NRJ0	Frame_Shift_Del	DEL	ENST00000300870.10	hg19	CCDS32440.1																																																																																			.	.		0.338	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432446.2	NM_003414	
SLC52A2	79581	hgsc.bcm.edu	37	8	145584640	145584640	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:145584640delA	ENST00000532887.1	+	5	1886	c.1303delA	c.(1303-1305)agcfs	p.S435fs	SLC52A2_ENST00000530047.1_Frame_Shift_Del_p.S435fs|SLC52A2_ENST00000329994.2_Frame_Shift_Del_p.S435fs|SLC52A2_ENST00000526752.1_Frame_Shift_Del_p.Q104fs|SLC52A2_ENST00000402965.1_Frame_Shift_Del_p.S435fs|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000527078.1_Frame_Shift_Del_p.S435fs|SLC52A2_ENST00000540505.1_Frame_Shift_Del_p.S347fs|FBXL6_ENST00000455319.2_5'Flank			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	435					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)									Gamma Hydroxybutyric Acid(DB01440)	CGTGTTCCACAGCAGAAAGGA	0.642																																					p.H434fs		Atlas-Indel,Pindel	.											.	.	.	.	0			c.1302delC						.						118.0	112.0	114.0					8																	145584640		2203	4300	6503	SO:0001589	frameshift_variant	79581	exon5			.	AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1303delA	chr8.hg19:g.145584640delA	ENSP00000436768:p.Ser435fs	50.0	0.0		131.0	32.0	NM_024531	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Frame_Shift_Del	DEL	ENST00000532887.1	hg19	CCDS6423.1																																																																																			.	.		0.642	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382405.1	NM_024531	
AGBL3	340351	hgsc.bcm.edu	37	7	134717658	134717659	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:134717658_134717659insT	ENST00000436302.2	+	6	735_736	c.482_483insT	c.(481-486)cctgtgfs	p.V162fs	AGBL3_ENST00000458078.1_Frame_Shift_Ins_p.V136fs|AGBL3_ENST00000435976.2_Frame_Shift_Ins_p.V162fs	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	162						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						TTGAAGCAGCCTGTGGATTACC	0.391																																					p.P161fs		Atlas-INDEL	.											.	AGBL3	45	.	0			c.482_483insT						.																																			SO:0001589	frameshift_variant	340351	exon6			.	BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.483dupT	chr7.hg19:g.134717659_134717659dupT	ENSP00000388275:p.Val162fs	68.0	0.0		200.0	17.0	NM_178563	B7Z827|Q9H965	Frame_Shift_Ins	INS	ENST00000436302.2	hg19	CCDS47718.1																																																																																			.	.		0.391	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376655.1	NM_178563	
APOB	338	hgsc.bcm.edu	37	2	21230944	21230945	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr2:21230944_21230945insT	ENST00000233242.1	-	26	8922_8923	c.8795_8796insA	c.(8794-8796)gccfs	p.A2932fs		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2932					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGGGGCAGGCCCATTTCCA	0.47																																					p.A2932fs		Atlas-INDEL	.											.	APOB	761	.	0			c.8796_8797insA						.																																			SO:0001589	frameshift_variant	338	exon26			.	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8795_8796insA	chr2.hg19:g.21230944_21230945insT	ENSP00000233242:p.Ala2932fs	135.0	0.0		298.0	27.0	NM_000384	O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Frame_Shift_Ins	INS	ENST00000233242.1	hg19	CCDS1703.1																																																																																			.	.		0.470	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1		
POTEH	23784	hgsc.bcm.edu	37	22	16268181	16268181	+	Splice_Site	DEL	C	C	-			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr22:16268181delC	ENST00000343518.6	-	8	1360	c.1309delG	c.(1309-1311)gaa>aa	p.E437fs		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	437										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TGAGACATTTCCTGCAGATGC	0.289																																					p.E437fs		Atlas-Indel,Pindel	.											.	POTEH	114	.	0			c.1310delA						.						1.0	1.0	1.0					22																	16268181		3	7	10	SO:0001630	splice_region_variant	23784	exon8			.	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1309-1G>-	chr22.hg19:g.16268181delC		195.0	0.0		1508.0	229.0	NM_001136213	A2CEK4|A6NCI1|A9Z1W0	Frame_Shift_Del	DEL	ENST00000343518.6	hg19	CCDS46658.1																																																																																			.	.		0.289	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213	Frame_Shift_Del
FCHO2	115548	hgsc.bcm.edu	37	5	72348291	72348292	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr5:72348291_72348292insA	ENST00000430046.2	+	13	1246_1247	c.1130_1131insA	c.(1129-1134)ttaaaafs	p.LK377fs	FCHO2_ENST00000512348.1_Frame_Shift_Ins_p.LK344fs|FCHO2_ENST00000341845.6_Frame_Shift_Ins_p.LK377fs	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	377					clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|membrane invagination (GO:0010324)|protein localization to plasma membrane (GO:0072659)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTGGATGAATTAAAAGTATCTA	0.342																																					p.L377fs		Atlas-Indel,Pindel	.											.	FCHO2	96	.	0			c.1130_1131insA						.																																			SO:0001589	frameshift_variant	115548	exon13			.	AL831971	CCDS47230.1, CCDS54868.1	5q13.2	2005-08-15			ENSG00000157107	ENSG00000157107			25180	protein-coding gene	gene with protein product		613438				15254787	Standard	NM_138782		Approved		uc003kcl.3	Q0JRZ9	OTTHUMG00000162413	ENST00000430046.2:c.1134dupA	chr5.hg19:g.72348295_72348295dupA	ENSP00000393776:p.Leu377fs	100.0	0.0		315.0	101.0	NM_138782	A8K6W7|B2RNQ9|B4DHK0|E9PG79|Q0JTJ3|Q96CF5	Frame_Shift_Ins	INS	ENST00000430046.2	hg19	CCDS47230.1																																																																																			.	.		0.342	FCHO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368795.3	XM_291142	
RPS6KL1	83694	hgsc.bcm.edu	37	14	75376302	75376303	+	Frame_Shift_Ins	INS	-	-	C			TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr14:75376302_75376303insC	ENST00000555647.1	-	8	1500_1501	c.1213_1214insG	c.(1213-1215)gagfs	p.E405fs	RPS6KL1_ENST00000554900.1_5'Flank|RPS6KL1_ENST00000557413.1_Frame_Shift_Ins_p.E405fs|RPS6KL1_ENST00000354625.2_Frame_Shift_Ins_p.E374fs|RPS6KL1_ENST00000358328.4_Frame_Shift_Ins_p.E405fs			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	405	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					ribosome (GO:0005840)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CACCCCCTGCTCGTGCAGCGCC	0.703																																					p.E405fs		Atlas-Indel,Pindel	.											.	RPS6KL1	35	.	0			c.1214_1215insG						.																																			SO:0001589	frameshift_variant	83694	exon7			.	BC004540	CCDS9834.1, CCDS9834.2	14q24.2	2011-04-05				ENSG00000198208			20222	protein-coding gene	gene with protein product							Standard	NM_031464		Approved	MGC11287	uc010tux.2	Q9Y6S9		ENST00000555647.1:c.1214dupG	chr14.hg19:g.75376303_75376303dupC	ENSP00000452027:p.Glu405fs	32.0	0.0		158.0	21.0	NM_031464	A6NGM9|Q69YT9|Q6ZMQ6|Q96NR9|Q9BSU9	Frame_Shift_Ins	INS	ENST00000555647.1	hg19	CCDS9834.2																																																																																			.	.		0.703	RPS6KL1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413732.1		
SPHK1	8877	hgsc.bcm.edu	37	17	74383108	74383109	+	Frame_Shift_Del	DEL	GT	GT	-	rs138977514|rs549579958|rs17850292	byFrequency	TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	GT	GT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr17:74383108_74383109delGT	ENST00000545180.1	+	8	1405_1406	c.596_597delGT	c.(595-597)cgtfs	p.R199fs	SPHK1_ENST00000392496.3_Frame_Shift_Del_p.R199fs|SPHK1_ENST00000592299.1_Frame_Shift_Del_p.R199fs|SPHK1_ENST00000590959.1_Frame_Shift_Del_p.R213fs|SPHK1_ENST00000323374.4_Frame_Shift_Del_p.R285fs			Q9NYA1	SPHK1_HUMAN	sphingosine kinase 1	199					'de novo' posttranslational protein folding (GO:0051084)|blood vessel development (GO:0001568)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to starvation (GO:0009267)|cyclooxygenase pathway (GO:0019371)|female pregnancy (GO:0007565)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of smooth muscle contraction (GO:0045987)|protein folding (GO:0006457)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of interleukin-1 beta production (GO:0032651)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|response to amine (GO:0014075)|response to ATP (GO:0033198)|response to interleukin-1 (GO:0070555)|response to magnesium ion (GO:0032026)|response to progesterone (GO:0032570)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingoid catabolic process (GO:0046521)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)|protein phosphatase 2A binding (GO:0051721)|sphinganine kinase activity (GO:0008481)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)	11					Fingolimod(DB08868)	ACCTTCCTGCGTCTGGCAGCCC	0.639																																					p.285_285del	GBM(90;966 1307 27369 33775 44498)	Pindel	.											.	SPHK1	24	.	0			c.853_854del						.																																			SO:0001589	frameshift_variant	8877	exon6			.	BC030553	CCDS11744.1, CCDS45785.1, CCDS59297.1	17q25.2	2004-02-18				ENSG00000176170			11240	protein-coding gene	gene with protein product		603730				9726979	Standard	NM_182965		Approved	SPHK	uc002jrj.2	Q9NYA1		ENST00000545180.1:c.596_597delGT	chr17.hg19:g.74383108_74383109delGT	ENSP00000440970:p.Arg199fs	44.0	0.0		80.0	20.0	NM_182965	Q8N632|Q96GK1|Q9HD92|Q9NY70|Q9NYL3	Frame_Shift_Del	DEL	ENST00000545180.1	hg19	CCDS45785.1																																																																																			.	.		0.639	SPHK1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450113.1	NM_182965, NM_021972	
MROH6	642475	hgsc.bcm.edu	37	8	144657868	144657904	+	5'Flank	DEL	CTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAG	CTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAG	-	rs370919058|rs200834238		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	CTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAG	CTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAG	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr8:144657868_144657904delCTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAG	ENST00000398882.3	-	0	0				RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000426292.3_Splice_Site_p.LG370fs|NAPRT1_ENST00000435154.3_Splice_Site_p.LG370fs|NAPRT1_ENST00000449291.2_Splice_Site_p.LG370fs|NAPRT1_ENST00000276844.7_Splice_Site_p.LG370fs	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		ATTCACCTCACTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAGCTGCCCTGGG	0.679																																					p.370_371del		Pindel	.											NAPRT1_ENST00000449291,caecum,carcinoma,0,2	NAPRT1	47	.	0			c.1108_1113del						.																																			SO:0001631	upstream_gene_variant	93100	exon9			.	AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		chr8.hg19:g.144657868_144657904delCTGCCCTGGGTGGGGAAGGGGGTGGCCGTGAGCCCAG	Exception_encountered	15.0	0.0		128.0	23.0	NM_145201	A8MWB1	In_Frame_Del	DEL	ENST00000398882.3	hg19	CCDS47928.1																																																																																			.	.		0.679	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382330.3	NM_001100878	
AVL9	23080	hgsc.bcm.edu	37	7	32772637	32772639	+	Intron	DEL	TGT	TGT	-	rs113464681		TCGA-DD-A1EE-01A-11D-A12Z-10	TCGA-DD-A1EE-10A-01D-A12Z-10	TGT	TGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	65ed0706-a804-4744-a5fb-b473edf78c63	1d47f982-8d2a-4164-bf7a-ed6962fc2b13	g.chr7:32772637_32772639delTGT	ENST00000404479.1	+	10	1215				MIR550A2_ENST00000384841.1_RNA			Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)						cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTAAGAGCCCTGTTGTTGTCAGA	0.502																																					.		Pindel	.											.	.	.	.	0			.						.																																			SO:0001627	intron_variant	693134	.			.	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000404479.1:c.1215+173561TGT>-	chr7.hg19:g.32772643_32772645delTGT		105.0	0.0		187.0	11.0	.	Q92573	RNA	DEL	ENST00000404479.1	hg19																																																																																				.	TGT|0.500;-|0.500		0.502	AVL9-201	KNOWN	basic	protein_coding	protein_coding		NM_015060	
