#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
CHD5	26038	hgsc.bcm.edu	37	1	6196807	6196807	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:6196807A>T	ENST00000262450.3	-	16	2654	c.2555T>A	c.(2554-2556)cTc>cAc	p.L852H	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GTTGTTCTTGAGGCGGTGGGC	0.657																																					p.L852H		Atlas-SNP	.											.	CHD5	267	.	0			c.T2555A						.						38.0	41.0	40.0					1																	6196807		2203	4300	6503	SO:0001583	missense	26038	exon16			TTCTTGAGGCGGT	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2555T>A	chr1.hg19:g.6196807A>T	ENSP00000262450:p.Leu852His	80.0	0.0		53.0	17.0	NM_015557	A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	hg19	CCDS57.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055912	0.76074	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.95482	-3.72	4.57	4.57	0.56435	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.56097	D	0.000024	D	0.98321	0.9443	H	0.95043	3.615	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99548	1.0965	10	0.87932	D	0	-28.3778	14.2217	0.65830	1.0:0.0:0.0:0.0	.	852	Q8TDI0	CHD5_HUMAN	H	852;368;260;260	ENSP00000262450:L852H	ENSP00000262450:L852H	L	-	2	0	CHD5	6119394	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.223000	0.95203	1.828000	0.53243	0.260000	0.18958	CTC	.	.		0.657	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
UBAP2L	9898	hgsc.bcm.edu	37	1	154221748	154221748	+	Missense_Mutation	SNP	G	G	T	rs200980910		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:154221748G>T	ENST00000361546.2	+	11	1090	c.1048G>T	c.(1048-1050)Ggt>Tgt	p.G350C	UBAP2L_ENST00000343815.6_Missense_Mutation_p.G350C|UBAP2L_ENST00000428931.1_Missense_Mutation_p.G350C|UBAP2L_ENST00000271877.7_Missense_Mutation_p.G361C			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	350					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGTGATGTCGGTGAAGCTAA	0.488																																					p.G350C		Atlas-SNP	.											.	UBAP2L	197	.	0			c.G1048T						.						151.0	144.0	146.0					1																	154221748		2203	4300	6503	SO:0001583	missense	9898	exon12			GATGTCGGTGAAG	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.1048G>T	chr1.hg19:g.154221748G>T	ENSP00000355343:p.Gly350Cys	170.0	0.0		231.0	13.0	NM_001127320	B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	hg19	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743326	0.49151	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000271877;ENST00000361546	T;T;T;T	0.14391	2.51;2.51;2.53;2.51	5.36	3.5	0.40072	.	0.167732	0.53938	D	0.000055	T	0.20047	0.0482	M	0.62723	1.935	0.58432	D	0.999994	P;D;D;D;D	0.89917	0.945;1.0;1.0;1.0;0.984	P;D;D;D;P	0.79784	0.599;0.993;0.954;0.954;0.79	T	0.01127	-1.1443	10	0.72032	D	0.01	0.1059	9.6731	0.40023	0.1592:0.0:0.8408:0.0	.	264;361;343;350;350	B4DZJ6;F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;.;UBP2L_HUMAN	C	350;350;361;350	ENSP00000345308:G350C;ENSP00000389445:G350C;ENSP00000271877:G361C;ENSP00000355343:G350C	ENSP00000271877:G361C	G	+	1	0	UBAP2L	152488372	1.000000	0.71417	0.559000	0.28332	0.867000	0.49689	3.240000	0.51368	0.828000	0.34709	-0.140000	0.14226	GGT	.	G|1.000;A|0.000		0.488	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847	
TNN	63923	hgsc.bcm.edu	37	1	175048705	175048705	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:175048705G>A	ENST00000239462.4	+	3	759	c.646G>A	c.(646-648)Gtg>Atg	p.V216M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	216	EGF-like 2.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGTGCGCGGCGTGTGCCAGTG	0.687																																					p.V216M		Atlas-SNP	.											TNN,caecum,carcinoma,0,1	TNN	297	.	0			c.G646A						.						17.0	14.0	15.0					1																	175048705		2191	4281	6472	SO:0001583	missense	63923	exon3			CGCGGCGTGTGCC	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.646G>A	chr1.hg19:g.175048705G>A	ENSP00000239462:p.Val216Met	55.0	0.0		54.0	26.0	NM_022093	B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	hg19	CCDS30943.1	.	.	.	.	.	.	.	.	.	.	G	8.785	0.929247	0.18131	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.11277	2.79	4.7	2.79	0.32731	EGF, extracellular (1);	0.547782	0.19947	N	0.102520	T	0.18087	0.0434	M	0.70275	2.135	0.09310	N	1	D;P	0.54964	0.969;0.677	P;B	0.48840	0.592;0.266	T	0.05835	-1.0861	10	0.49607	T	0.09	.	9.8927	0.41300	0.0782:0.1397:0.782:0.0	.	216;216	B3KXB6;Q9UQP3	.;TENN_HUMAN	M	216	ENSP00000239462:V216M	ENSP00000239462:V216M	V	+	1	0	TNN	173315328	0.000000	0.05858	0.030000	0.17652	0.271000	0.26615	0.219000	0.17641	0.497000	0.27926	0.491000	0.48974	GTG	.	.		0.687	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527	
CEP350	9857	hgsc.bcm.edu	37	1	180064893	180064893	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:180064893T>C	ENST00000367607.3	+	35	9165	c.8747T>C	c.(8746-8748)gTc>gCc	p.V2916A	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2916					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTATTGGCAGTCCCCCATACT	0.388																																					p.V2916A		Atlas-SNP	.											.	CEP350	418	.	0			c.T8747C						.						100.0	95.0	97.0					1																	180064893		2203	4300	6503	SO:0001583	missense	9857	exon35			TGGCAGTCCCCCA	AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.8747T>C	chr1.hg19:g.180064893T>C	ENSP00000356579:p.Val2916Ala	73.0	0.0		140.0	32.0	NM_014810	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	ENST00000367607.3	hg19	CCDS1336.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.471563	0.84533	.	.	ENSG00000135837	ENST00000367607;ENST00000417046	T	0.72615	-0.67	5.98	5.98	0.97165	.	0.167110	0.27802	N	0.017792	D	0.84229	0.5426	M	0.77103	2.36	0.58432	D	0.999995	D;D	0.76494	0.994;0.999	D;D	0.75484	0.97;0.986	D	0.84706	0.0731	9	.	.	.	.	16.4566	0.84019	0.0:0.0:0.0:1.0	.	2916;2916	E7EU22;Q5VT06	.;CE350_HUMAN	A	2916;380	ENSP00000356579:V2916A	.	V	+	2	0	CEP350	178331516	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.519000	0.73768	2.293000	0.77203	0.477000	0.44152	GTC	.	.		0.388	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085315.2	NM_014810	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204438107	204438107	+	Missense_Mutation	SNP	G	G	A	rs375951229		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:204438107G>A	ENST00000367187.3	-	3	1380	c.824C>T	c.(823-825)gCc>gTc	p.A275V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A275V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	275	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTGCTCCTGGCCACGGGTTT	0.622																																					p.A275V		Atlas-SNP	.											.	PIK3C2B	142	.	0			c.C824T						.	G	VAL/ALA	0,4406		0,0,2203	78.0	87.0	84.0		824	5.3	1.0	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense	PIK3C2B	NM_002646.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	275/1635	204438107	1,13005	2203	4300	6503	SO:0001583	missense	5287	exon3			CTCCTGGCCACGG	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.824C>T	chr1.hg19:g.204438107G>A	ENSP00000356155:p.Ala275Val	50.0	0.0		67.0	22.0	NM_002646	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	hg19	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	G	17.91	3.503912	0.64410	0.0	1.16E-4	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.69040	-0.27;-0.37	5.31	5.31	0.75309	.	0.000000	0.56097	D	0.000038	T	0.61739	0.2371	L	0.47716	1.5	0.38246	D	0.941472	B;B	0.23316	0.043;0.083	B;B	0.24541	0.054;0.039	T	0.60480	-0.7255	10	0.31617	T	0.26	.	16.8301	0.85942	0.0:0.0:1.0:0.0	.	275;275	F5GWN5;O00750	.;P3C2B_HUMAN	V	275	ENSP00000356155:A275V;ENSP00000400561:A275V	ENSP00000356155:A275V	A	-	2	0	PIK3C2B	202704730	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	8.776000	0.91776	2.491000	0.84063	0.456000	0.33151	GCC	.	.		0.622	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
IKBKE	9641	hgsc.bcm.edu	37	1	206649567	206649567	+	Silent	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:206649567C>T	ENST00000367120.3	+	6	775	c.402C>T	c.(400-402)cgC>cgT	p.R134R	IKBKE_ENST00000537984.1_Silent_p.R49R	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				immune response (GO:0006955)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of type I interferon production (GO:0032480)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein phosphorylation (GO:0006468)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|NF-kappaB-inducing kinase activity (GO:0004704)	p.R134R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					TTGTGCATCGCGACATCAAGC	0.627																																					p.R134R		Atlas-SNP	.											IKBKE,NS,carcinoma,0,2	IKBKE	77	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C402T						.						97.0	82.0	87.0					1																	206649567		2203	4300	6503	SO:0001819	synonymous_variant	9641	exon6			GCATCGCGACATC	AB016590	CCDS30996.1, CCDS53464.1, CCDS73019.1	1q31	2014-05-06			ENSG00000143466				14552	protein-coding gene	gene with protein product		605048				10421793, 10882136	Standard	NM_001193321		Approved	IKKE, IKK-i, KIAA0151	uc001hdz.2	Q14164	OTTHUMG00000184613	ENST00000367120.3:c.402C>T	chr1.hg19:g.206649567C>T		59.0	1.0		64.0	38.0	NM_001193322	D3DT78|Q3B754|Q3KR43|Q5JTS6	Silent	SNP	ENST00000367120.3	hg19	CCDS30996.1																																																																																			.	.		0.627	IKBKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088484.1		
RTN4	57142	hgsc.bcm.edu	37	2	55254616	55254616	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr2:55254616T>C	ENST00000337526.6	-	3	862	c.619A>G	c.(619-621)Atg>Gtg	p.M207V	RTN4_ENST00000394611.2_Start_Codon_SNP_p.M1V|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Start_Codon_SNP_p.M1V|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Start_Codon_SNP_p.M1V|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_Start_Codon_SNP_p.M1V|RTN4_ENST00000354474.6_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	207					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TTCAAGTCCATATTTTCTGTG	0.428																																					p.M207V		Atlas-SNP	.											.	RTN4	189	.	0			c.A619G						.						72.0	64.0	67.0					2																	55254616		2203	4300	6503	SO:0001583	missense	57142	exon3			AGTCCATATTTTC	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.619A>G	chr2.hg19:g.55254616T>C	ENSP00000337838:p.Met207Val	22.0	0.0		50.0	16.0	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	hg19	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	9.944	1.218355	0.22373	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000427710	T;T;T;T;T	0.22743	1.94;1.94;2.35;1.94;1.94	5.8	3.46	0.39613	.	2.597800	0.00924	N	0.002621	T	0.21550	0.0519	L	0.55834	1.745	0.80722	D	1	B	0.23128	0.08	B	0.16289	0.015	T	0.35525	-0.9785	10	0.20519	T	0.43	-18.1312	4.5817	0.12262	0.0:0.4456:0.0:0.5544	.	207	Q9NQC3	RTN4_HUMAN	V	1;1;207;1;1;1	ENSP00000384471:M1V;ENSP00000349944:M1V;ENSP00000337838:M207V;ENSP00000378109:M1V;ENSP00000385650:M1V	ENSP00000337838:M207V	M	-	1	0	RTN4	55108120	0.998000	0.40836	1.000000	0.80357	0.991000	0.79684	1.077000	0.30741	1.022000	0.39626	0.455000	0.32223	ATG	.	.		0.428	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
RTN4	57142	hgsc.bcm.edu	37	2	55254618	55254618	+	Missense_Mutation	SNP	T	T	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr2:55254618T>G	ENST00000337526.6	-	3	860	c.617A>C	c.(616-618)aAt>aCt	p.N206T	RTN4_ENST00000394611.2_5'UTR|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_5'UTR|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_5'UTR|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000405240.1_5'UTR|RTN4_ENST00000354474.6_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	206					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CAAGTCCATATTTTCTGTGAC	0.418																																					p.N206T		Atlas-SNP	.											.	RTN4	189	.	0			c.A617C						.						72.0	64.0	66.0					2																	55254618		2203	4300	6503	SO:0001583	missense	57142	exon3			TCCATATTTTCTG	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.617A>C	chr2.hg19:g.55254618T>G	ENSP00000337838:p.Asn206Thr	21.0	0.0		49.0	17.0	NM_020532	O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	hg19	CCDS42684.1	.	.	.	.	.	.	.	.	.	.	T	13.70	2.316775	0.40996	.	.	ENSG00000115310	ENST00000337526	T	0.16457	2.34	5.8	5.8	0.92144	.	1.351150	0.04498	N	0.380799	T	0.14874	0.0359	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.09997	-1.0649	10	0.87932	D	0	0.4404	16.1372	0.81494	0.0:0.0:0.0:1.0	.	206	Q9NQC3	RTN4_HUMAN	T	206	ENSP00000337838:N206T	ENSP00000337838:N206T	N	-	2	0	RTN4	55108122	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.925000	0.48884	2.207000	0.71202	0.455000	0.32223	AAT	.	.		0.418	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1		
DHRS9	10170	hgsc.bcm.edu	37	2	169938117	169938117	+	Missense_Mutation	SNP	T	T	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr2:169938117T>A	ENST00000327239.4	+	5	1530	c.26T>A	c.(25-27)cTa>cAa	p.L9Q	DHRS9_ENST00000428522.1_Missense_Mutation_p.L9Q|DHRS9_ENST00000412271.1_Missense_Mutation_p.L9Q|DHRS9_ENST00000602501.1_Missense_Mutation_p.L9Q|DHRS9_ENST00000436483.2_Missense_Mutation_p.L9Q|DHRS9_ENST00000432060.2_Missense_Mutation_p.L69Q|DHRS9_ENST00000421653.1_Intron|DHRS9_ENST00000357546.2_Missense_Mutation_p.L9Q	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	9					9-cis-retinoic acid biosynthetic process (GO:0042904)|androgen metabolic process (GO:0008209)|epithelial cell differentiation (GO:0030855)|progesterone metabolic process (GO:0042448)|retinol metabolic process (GO:0042572)	integral component of endoplasmic reticulum membrane (GO:0030176)	alcohol dehydrogenase (NAD) activity (GO:0004022)|racemase and epimerase activity (GO:0016854)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						CTAGGCCTCCTAATCCTCTGT	0.418																																					p.L9Q		Atlas-SNP	.											.	DHRS9	29	.	0			c.T26A						.						105.0	103.0	103.0					2																	169938117		2203	4300	6503	SO:0001583	missense	10170	exon5			GCCTCCTAATCCT	AF067174	CCDS2231.1, CCDS74600.1	2q31.1	2011-09-14			ENSG00000073737	ENSG00000073737		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	16888	protein-coding gene	gene with protein product	"""NADP-dependent retinol dehydrogenase/reductase"", ""3-alpha hydroxysteroid dehydrogenase"", ""retinol dehydrogenase homolog"", ""short chain dehydrogenase/reductase family 9C, member 4"""	612131				11304534, 11294878, 19027726	Standard	NM_001142270		Approved	RDHL, 3alpha-HSD, RETSDR8, RDH15, SDR9C4	uc010zde.2	Q9BPW9	OTTHUMG00000132180	ENST00000327239.4:c.26T>A	chr2.hg19:g.169938117T>A	ENSP00000316670:p.Leu9Gln	31.0	0.0		50.0	11.0	NM_005771	B7Z416|D3DPC1|Q5RKX1|Q9NRA9|Q9NRB0	Missense_Mutation	SNP	ENST00000327239.4	hg19	CCDS2231.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.941804	0.73557	.	.	ENSG00000073737	ENST00000327239;ENST00000357546;ENST00000432060;ENST00000428522;ENST00000450153;ENST00000436483;ENST00000412271	D;D;D;D;D;D;D	0.86627	-2.03;-2.03;-2.15;-2.03;-1.61;-2.03;-2.03	5.88	5.88	0.94601	.	0.220080	0.39475	N	0.001341	D	0.83640	0.5298	L	0.41492	1.28	0.37890	D	0.930686	P;P	0.39022	0.613;0.655	B;B	0.38264	0.269;0.15	D	0.86609	0.1871	10	0.59425	D	0.04	.	15.9494	0.79820	0.0:0.0:0.0:1.0	.	69;9	B7Z416;Q9BPW9	.;DHRS9_HUMAN	Q	9;9;69;9;9;9;9	ENSP00000316670:L9Q;ENSP00000350154:L9Q;ENSP00000389241:L69Q;ENSP00000388564:L9Q;ENSP00000391214:L9Q;ENSP00000407167:L9Q;ENSP00000407747:L9Q	ENSP00000316670:L9Q	L	+	2	0	DHRS9	169646363	0.952000	0.32445	0.594000	0.28785	0.872000	0.50106	3.204000	0.51082	2.242000	0.73789	0.533000	0.62120	CTA	.	.		0.418	DHRS9-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333612.3	NM_005771	
TTN	7273	hgsc.bcm.edu	37	2	179648462	179648462	+	Silent	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr2:179648462T>C	ENST00000591111.1	-	17	3050	c.2826A>G	c.(2824-2826)ccA>ccG	p.P942P	TTN_ENST00000342175.6_Silent_p.P896P|TTN_ENST00000342992.6_Silent_p.P942P|TTN_ENST00000359218.5_Silent_p.P896P|TTN_ENST00000460472.2_Silent_p.P896P|TTN_ENST00000589042.1_Silent_p.P942P|TTN_ENST00000360870.5_Silent_p.P942P			Q8WZ42	TITIN_HUMAN	titin	33644					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAAGTTGGTGGAGTAACAG	0.348																																					p.P942P		Atlas-SNP	.											.	TTN	18412	.	0			c.A2826G						.						88.0	90.0	89.0					2																	179648462		2203	4300	6503	SO:0001819	synonymous_variant	7273	exon17			AGTTGGTGGAGTA	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.2826A>G	chr2.hg19:g.179648462T>C		96.0	0.0		161.0	76.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	hg19																																																																																				.	.		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SLC39A10	57181	hgsc.bcm.edu	37	2	196593015	196593015	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	162.0	0.0		315.0	151.0	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	
ABCA12	26154	hgsc.bcm.edu	37	2	215843664	215843664	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	75.0	0.0		128.0	22.0	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	
SLC19A3	80704	hgsc.bcm.edu	37	2	228563990	228563990	+	Silent	SNP	C	C	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr2:228563990C>A	ENST00000258403.3	-	3	512	c.441G>T	c.(439-441)acG>acT	p.T147T	SLC19A3_ENST00000541617.1_Silent_p.T143T|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	147					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)	AGGCGGCCAGCGTGACGCTCC	0.592																																					p.T147T		Atlas-SNP	.											.	SLC19A3	62	.	0			c.G441T						.						85.0	87.0	86.0					2																	228563990		2203	4300	6503	SO:0001819	synonymous_variant	80704	exon3			GGCCAGCGTGACG	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.441G>T	chr2.hg19:g.228563990C>A		31.0	0.0		43.0	9.0	NM_025243		Silent	SNP	ENST00000258403.3	hg19	CCDS2468.1																																																																																			.	.		0.592	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1		
TATDN2	9797	hgsc.bcm.edu	37	3	10290922	10290922	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr3:10290922G>T	ENST00000287652.4	+	2	1089	c.38G>T	c.(37-39)aGc>aTc	p.S13I	TATDN2_ENST00000448281.2_Missense_Mutation_p.S13I|RP11-438J1.1_ENST00000450534.1_5'Flank	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	13					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CACAACTGGAGCAGCACGTCG	0.672																																					p.S13I		Atlas-SNP	.											.	TATDN2	59	.	0			c.G38T						.						48.0	49.0	49.0					3																	10290922		2202	4298	6500	SO:0001583	missense	9797	exon2			ACTGGAGCAGCAC	D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.38G>T	chr3.hg19:g.10290922G>T	ENSP00000287652:p.Ser13Ile	52.0	0.0		63.0	13.0	NM_014760	Q3MIL9|Q5BKU0	Missense_Mutation	SNP	ENST00000287652.4	hg19	CCDS33698.1	.	.	.	.	.	.	.	.	.	.	G	19.16	3.773612	0.69992	.	.	ENSG00000157014	ENST00000287652;ENST00000448281	T;T	0.26518	1.73;1.73	3.77	0.848	0.18966	.	.	.	.	.	T	0.18593	0.0446	L	0.51422	1.61	0.24734	N	0.993078	B	0.30068	0.267	B	0.21151	0.033	T	0.24799	-1.0150	9	0.87932	D	0	-3.0134	3.1275	0.06412	0.2332:0.0:0.5569:0.2099	.	13	Q93075	TATD2_HUMAN	I	13	ENSP00000287652:S13I;ENSP00000408736:S13I	ENSP00000287652:S13I	S	+	2	0	TATDN2	10265922	1.000000	0.71417	0.994000	0.49952	0.996000	0.88848	0.970000	0.29383	0.048000	0.15891	0.563000	0.77884	AGC	.	.		0.672	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339641.1	XM_376203	
CTNNB1	1499	hgsc.bcm.edu	37	3	41275047	41275047	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr3:41275047C>T	ENST00000349496.5	+	9	1493	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	CTNNB1_ENST00000405570.1_Missense_Mutation_p.L405F|CTNNB1_ENST00000453024.1_Missense_Mutation_p.L398F|CTNNB1_ENST00000396183.3_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	56.0	0.0		63.0	18.0	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	
STAB1	23166	hgsc.bcm.edu	37	3	52549455	52549455	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	50.0	0.0		35.0	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	
C3orf67	200844	hgsc.bcm.edu	37	3	58855185	58855185	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr3:58855185C>T	ENST00000482387.1	-	5	605	c.509G>A	c.(508-510)cGa>cAa	p.R170Q	RP11-147N17.1_ENST00000463703.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000472469.1_Missense_Mutation_p.R90Q|C3orf67_ENST00000295966.7_Missense_Mutation_p.R170Q			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	170										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTGGCATGATCGGTTATTTTT	0.368																																					p.R170Q		Atlas-SNP	.											.	C3orf67	45	.	0			c.G509A						.						119.0	111.0	114.0					3																	58855185		2203	4300	6503	SO:0001583	missense	200844	exon9			CATGATCGGTTAT	AK124920	CCDS33776.1	3p14.2	2011-01-25			ENSG00000163689	ENSG00000163689			24763	protein-coding gene	gene with protein product							Standard	NM_198463		Approved	FLJ42117, FLJ42930	uc003dkt.1	Q6ZVT6	OTTHUMG00000159151	ENST00000482387.1:c.509G>A	chr3.hg19:g.58855185C>T	ENSP00000417122:p.Arg170Gln	100.0	0.0		154.0	46.0	NM_198463	B9EKV6|Q6ZV69	Missense_Mutation	SNP	ENST00000482387.1	hg19		.	.	.	.	.	.	.	.	.	.	C	9.809	1.182661	0.21870	.	.	ENSG00000163689	ENST00000295966;ENST00000482387;ENST00000472469	T;T;T	0.51817	0.69;0.69;0.69	5.85	0.366	0.16136	.	0.925114	0.09158	N	0.840614	T	0.19485	0.0468	N	0.03016	-0.435	0.09310	N	1	B;B	0.26876	0.162;0.028	B;B	0.17979	0.02;0.007	T	0.17107	-1.0380	10	0.27785	T	0.31	-0.0162	5.3638	0.16103	0.0:0.5302:0.14:0.3298	.	90;170	C9J3M8;Q6ZVT6-2	.;.	Q	170;170;90	ENSP00000295966:R170Q;ENSP00000417122:R170Q;ENSP00000417271:R90Q	ENSP00000295966:R170Q	R	-	2	0	C3orf67	58830225	0.347000	0.24853	0.000000	0.03702	0.384000	0.30261	-0.026000	0.12392	-0.225000	0.09913	0.655000	0.94253	CGA	.	.		0.368	C3orf67-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000353803.1	NM_198463	
EPHA6	285220	hgsc.bcm.edu	37	3	97202883	97202883	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr3:97202883T>C	ENST00000514100.1	+	7	598	c.356T>C	c.(355-357)aTt>aCt	p.I119T	EPHA6_ENST00000389672.5_Missense_Mutation_p.I727T|EPHA6_ENST00000442602.2_Missense_Mutation_p.I93T|EPHA6_ENST00000502694.1_Missense_Mutation_p.I119T	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	85.0	0.0		93.0	39.0	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	
FAM193A	8603	hgsc.bcm.edu	37	4	2698242	2698242	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr4:2698242G>T	ENST00000324666.5	+	16	2907	c.2556G>T	c.(2554-2556)ttG>ttT	p.L852F	FAM193A_ENST00000545951.1_Missense_Mutation_p.L852F|FAM193A_ENST00000505311.1_Missense_Mutation_p.L852F|FAM193A_ENST00000382839.3_Missense_Mutation_p.L852F|FAM193A_ENST00000502458.1_Missense_Mutation_p.L874F	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	852										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						AGGATTTGTTGCAGTTTATAA	0.502																																					p.L874F		Atlas-SNP	.											.	FAM193A	103	.	0			c.G2622T						.						113.0	107.0	109.0					4																	2698242		2203	4300	6503	SO:0001583	missense	8603	exon17			TTTGTTGCAGTTT	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.2556G>T	chr4.hg19:g.2698242G>T	ENSP00000324587:p.Leu852Phe	163.0	0.0		190.0	54.0	NM_001256667	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	ENST00000324666.5	hg19	CCDS58875.1	.	.	.	.	.	.	.	.	.	.	G	19.20	3.781587	0.70222	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.56275	0.58;0.99;0.56;0.58;0.47	5.26	-5.2	0.02823	.	0.077181	0.53938	D	0.000059	T	0.59878	0.2226	M	0.64404	1.975	0.49687	D	0.999815	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.996	D;D;D;P;P	0.68192	0.956;0.94;0.956;0.9;0.9	T	0.63576	-0.6606	10	0.87932	D	0	-14.2123	9.918	0.41446	0.1826:0.244:0.5734:0.0	.	852;874;852;874;852	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	F	852;852;852;874;706	ENSP00000372290:L852F;ENSP00000324587:L852F;ENSP00000443617:L852F;ENSP00000427505:L874F;ENSP00000427260:L706F	ENSP00000324587:L852F	L	+	3	2	FAM193A	2668040	0.916000	0.31088	0.444000	0.26895	0.934000	0.57294	0.095000	0.15127	-0.970000	0.03569	-0.331000	0.08364	TTG	.	.		0.502	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000360903.1	NM_003704	
SLC30A9	10463	hgsc.bcm.edu	37	4	42065035	42065035	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr4:42065035C>T	ENST00000264451.7	+	11	1109	c.929C>T	c.(928-930)tCg>tTg	p.S310L		NM_006345.3	NP_006336.3	Q6PML9	ZNT9_HUMAN	solute carrier family 30 (zinc transporter), member 9	310					nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|zinc ion transport (GO:0006829)	cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	cation transmembrane transporter activity (GO:0008324)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TATATTTCTTCGCTAATTAGT	0.348																																					p.S310L		Atlas-SNP	.											SLC30A9,colon,carcinoma,-1,2	SLC30A9	58	.	0			c.C929T						.						206.0	198.0	201.0					4																	42065035		2203	4300	6503	SO:0001583	missense	10463	exon11			TTTCTTCGCTAAT	AF006621	CCDS3465.1	4p13	2013-05-22	2003-09-09	2003-09-10	ENSG00000014824	ENSG00000014824		"""Solute carriers"""	1329	protein-coding gene	gene with protein product	"""GRIP1-dependent nuclear receptor coactivator"""	604604	"""chromosome 4 open reading frame 1"""	C4orf1		10409434, 11906820	Standard	NM_006345		Approved	HUEL, ZNT9, GAC63	uc003gwl.3	Q6PML9	OTTHUMG00000099387	ENST00000264451.7:c.929C>T	chr4.hg19:g.42065035C>T	ENSP00000264451:p.Ser310Leu	246.0	0.0		411.0	17.0	NM_006345	Q4W5B6|Q7Z5I7|Q8TBB2|Q9Y6R2	Missense_Mutation	SNP	ENST00000264451.7	hg19	CCDS3465.1	.	.	.	.	.	.	.	.	.	.	C	33	5.250466	0.95305	.	.	ENSG00000014824	ENST00000264451;ENST00000536881	T	0.64618	-0.11	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.86381	0.5919	H	0.95745	3.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89697	0.3902	10	0.87932	D	0	-11.8218	19.9859	0.97351	0.0:1.0:0.0:0.0	.	310	Q6PML9	ZNT9_HUMAN	L	310;138	ENSP00000264451:S310L	ENSP00000264451:S310L	S	+	2	0	SLC30A9	41759792	1.000000	0.71417	0.992000	0.48379	0.805000	0.45488	7.818000	0.86416	2.729000	0.93468	0.655000	0.94253	TCG	.	.		0.348	SLC30A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216842.3		
POLR2B	5431	hgsc.bcm.edu	37	4	57860856	57860856	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr4:57860856A>G	ENST00000381227.1	+	6	813	c.400A>G	c.(400-402)Aaa>Gaa	p.K134E	POLR2B_ENST00000431623.2_Missense_Mutation_p.K59E|POLR2B_ENST00000314595.5_Missense_Mutation_p.K134E|snoU13_ENST00000459266.1_RNA|POLR2B_ENST00000441246.2_Missense_Mutation_p.K127E			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	134					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|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-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					AACAGTCATTAAAGAAGGTGA	0.338																																					p.K134E		Atlas-SNP	.											.	POLR2B	108	.	0			c.A400G						.						56.0	58.0	57.0					4																	57860856		2201	4299	6500	SO:0001583	missense	5431	exon5			GTCATTAAAGAAG		CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.400A>G	chr4.hg19:g.57860856A>G	ENSP00000370625:p.Lys134Glu	54.0	0.0		46.0	29.0	NM_000938	A8K1A8|Q8IZ61	Missense_Mutation	SNP	ENST00000381227.1	hg19	CCDS3511.1	.	.	.	.	.	.	.	.	.	.	A	13.43	2.233700	0.39498	.	.	ENSG00000047315	ENST00000381227;ENST00000431623;ENST00000441246;ENST00000314595	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.77	5.77	0.91146	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	N	0.20483	0.58	0.58432	D	0.999995	B;B	0.12630	0.001;0.006	B;B	0.15870	0.014;0.014	T	0.41360	-0.9513	10	0.12103	T	0.63	.	16.0891	0.81080	1.0:0.0:0.0:0.0	.	59;134	C9J4M6;P30876	.;RPB2_HUMAN	E	134;59;127;134	ENSP00000370625:K134E;ENSP00000391096:K59E;ENSP00000391452:K127E;ENSP00000312735:K134E	ENSP00000312735:K134E	K	+	1	0	POLR2B	57555613	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.268000	0.72552	2.208000	0.71279	0.455000	0.32223	AAA	.	.		0.338	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250692.1	NM_000938	
CAPSL	133690	hgsc.bcm.edu	37	5	35910562	35910562	+	Missense_Mutation	SNP	A	A	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr5:35910562A>T	ENST00000397367.2	-	3	347	c.221T>A	c.(220-222)gTc>gAc	p.V74D	CAPSL_ENST00000397366.1_Missense_Mutation_p.V74D|CAPSL_ENST00000514524.1_Missense_Mutation_p.V74D	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	74	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TTTTTCCATGACCACAGCATA	0.328																																					p.V74D		Atlas-SNP	.											.	CAPSL	68	.	0			c.T221A						.						98.0	99.0	99.0					5																	35910562		2202	4300	6502	SO:0001583	missense	133690	exon3			TCCATGACCACAG	BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.221T>A	chr5.hg19:g.35910562A>T	ENSP00000380524:p.Val74Asp	94.0	0.0		115.0	36.0	NM_144647		Missense_Mutation	SNP	ENST00000397367.2	hg19	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	A	7.610	0.674700	0.14841	.	.	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.70164	-0.46;-0.46;-0.46;-0.46	5.18	5.18	0.71444	EF-hand-like domain (1);	0.296699	0.36167	N	0.002749	T	0.28764	0.0713	N	0.00268	-1.735	0.54753	D	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.44772	-0.9306	10	0.07030	T	0.85	-18.4972	15.0286	0.71687	1.0:0.0:0.0:0.0	.	74	Q8WWF8	CAPSL_HUMAN	D	74	ENSP00000380524:V74D;ENSP00000380523:V74D;ENSP00000424806:V74D;ENSP00000421018:V74D	ENSP00000380523:V74D	V	-	2	0	CAPSL	35946319	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.836000	0.55813	1.959000	0.56917	0.379000	0.24179	GTC	.	.		0.328	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647	
SLC35A4	113829	hgsc.bcm.edu	37	5	139947621	139947621	+	Silent	SNP	C	C	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr5:139947621C>A	ENST00000514199.1	+	2	2553	c.867C>A	c.(865-867)gtC>gtA	p.V289V	SLC35A4_ENST00000323146.3_Silent_p.V289V|APBB3_ENST00000507279.1_Intron			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	289	Leu-rich.					Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGGTGGTCAACGCCGTGC	0.587																																					p.V289V		Atlas-SNP	.											.	SLC35A4	25	.	0			c.C867A						.						72.0	53.0	59.0					5																	139947621		2203	4300	6503	SO:0001819	synonymous_variant	113829	exon3			GGTGGTCAACGCC	AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.867C>A	chr5.hg19:g.139947621C>A		52.0	0.0		61.0	23.0	NM_080670	A8K013	Silent	SNP	ENST00000514199.1	hg19	CCDS4231.1	.	.	.	.	.	.	.	.	.	.	C	6.521	0.464336	0.12402	.	.	ENSG00000176087	ENST00000432254	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	T	0.58148	0.2102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55560	-0.8122	4	.	.	.	-7.7688	7.9223	0.29854	0.1616:0.757:0.0:0.0813	.	.	.	.	K	110	.	.	Q	+	1	0	SLC35A4	139927805	0.986000	0.35501	1.000000	0.80357	0.963000	0.63663	0.186000	0.16978	2.674000	0.91012	0.555000	0.69702	CAA	.	.		0.587	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372815.1	NM_080670	
PCDHB16	57717	hgsc.bcm.edu	37	5	140563257	140563257	+	Missense_Mutation	SNP	T	T	A	rs377277959		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr5:140563257T>A	ENST00000361016.2	+	1	2278	c.1123T>A	c.(1123-1125)Tcc>Acc	p.S375T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	375	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGATCCTGACTCCGGAAACAA	0.493																																					p.S375T		Atlas-SNP	.											.	PCDHB16	159	.	0			c.T1123A						.	T	THR/SER	1,4405	2.1+/-5.4	0,1,2202	83.0	86.0	85.0		1123	3.3	0.1	5		85	0,8600		0,0,4300	no	missense	PCDHB16	NM_020957.1	58	0,1,6502	AA,AT,TT		0.0,0.0227,0.0077	possibly-damaging	375/777	140563257	1,13005	2203	4300	6503	SO:0001583	missense	57717	exon1			CCTGACTCCGGAA	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1123T>A	chr5.hg19:g.140563257T>A	ENSP00000354293:p.Ser375Thr	77.0	0.0		59.0	26.0	NM_020957	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	hg19	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	T	17.71	3.455974	0.63401	2.27E-4	0.0	ENSG00000196963	ENST00000361016	T	0.01787	4.64	4.47	3.28	0.37604	Cadherin (4);Cadherin-like (1);	0.000000	0.33834	N	0.004517	T	0.06735	0.0172	M	0.89904	3.07	0.27337	N	0.956618	P;P	0.39424	0.532;0.673	B;P	0.44696	0.158;0.458	T	0.02144	-1.1206	10	0.72032	D	0.01	.	11.0225	0.47726	0.0:0.0:0.1566:0.8434	.	65;375	O15199;Q9NRJ7	.;PCDBG_HUMAN	T	375	ENSP00000354293:S375T	ENSP00000354293:S375T	S	+	1	0	PCDHB16	140543441	0.256000	0.24012	0.086000	0.20670	0.949000	0.60115	1.614000	0.36911	0.549000	0.28973	0.482000	0.46254	TCC	.	.		0.493	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957	
PGBD1	84547	hgsc.bcm.edu	37	6	28269056	28269056	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	94.0	0.0		129.0	54.0	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		
TOR2A	27433	hgsc.bcm.edu	37	9	130494466	130494466	+	Silent	SNP	G	G	A	rs370306195		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr9:130494466G>A	ENST00000373284.5	-	5	859	c.813C>T	c.(811-813)tgC>tgT	p.C271C	TOR2A_ENST00000373281.5_3'UTR|TOR2A_ENST00000458505.3_3'UTR|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000336067.6_Missense_Mutation_p.R229C	NM_001085347.2	NP_001078816	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	271					chaperone mediated protein folding requiring cofactor (GO:0051085)|protein homooligomerization (GO:0051260)	endoplasmic reticulum lumen (GO:0005788)	ATP binding (GO:0005524)			NS(1)|endometrium(2)	3						CGTTGAGCACGCAGTGCCGGA	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		19478	0.0		0.0	False		,,,				2504	0.0				p.R229C		Atlas-SNP	.											.	TOR2A	26	.	0			c.C685T						.						59.0	64.0	62.0					9																	130494466		2049	4185	6234	SO:0001819	synonymous_variant	27433	exon4			GAGCACGCAGTGC	AA873275	CCDS6876.1, CCDS43879.1, CCDS48024.1	9q34.11	2010-08-20			ENSG00000160404	ENSG00000160404			11996	protein-coding gene	gene with protein product		608052				10644435	Standard	NM_001085347		Approved	FLJ14771, TORP1	uc004brs.4	Q5JU69	OTTHUMG00000020706	ENST00000373284.5:c.813C>T	chr9.hg19:g.130494466G>A		78.0	0.0		47.0	19.0	NM_001134430	A4FU12|A4FU13|Q3ZCN9|Q3ZCP0|Q5JU68|Q66K87|Q6UXW6|Q8NAN5|Q96SL7	Missense_Mutation	SNP	ENST00000373284.5	hg19	CCDS43879.1	.	.	.	.	.	.	.	.	.	.	G	7.531	0.658710	0.14645	.	.	ENSG00000160404	ENST00000336067	T	0.65732	-0.17	5.63	-11.3	0.00108	.	.	.	.	.	T	0.52158	0.1717	.	.	.	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.47761	-0.9092	8	0.46703	T	0.11	-20.6337	22.6592	0.99974	0.7529:0.0:0.2471:0.0	.	229	Q8N2E6	TOR2X_HUMAN	C	229	ENSP00000338317:R229C	ENSP00000338317:R229C	R	-	1	0	TOR2A	129534287	0.396000	0.25262	0.101000	0.21167	0.359000	0.29487	-0.256000	0.08757	-2.876000	0.00321	-2.075000	0.00382	CGT	.	.		0.627	TOR2A-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054205.1	NM_130459	
ZNF248	57209	hgsc.bcm.edu	37	10	38121994	38121994	+	Missense_Mutation	SNP	C	C	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr10:38121994C>G	ENST00000395867.3	-	6	839	c.289G>C	c.(289-291)Gat>Cat	p.D97H	AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000374648.3_Missense_Mutation_p.D97H|ZNF248_ENST00000494133.1_5'UTR|ZNF248_ENST00000357328.4_Missense_Mutation_p.D97H	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	97					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)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						AAATGGTCATCTTCATTTTCC	0.368																																					p.D97H		Atlas-SNP	.											.	ZNF248	61	.	0			c.G289C						.						81.0	76.0	78.0					10																	38121994		2203	4299	6502	SO:0001583	missense	57209	exon6			GGTCATCTTCATT	AJ491695	CCDS7194.1, CCDS58077.1, CCDS73087.1	10p11.21	2013-01-08			ENSG00000198105	ENSG00000198105		"""Zinc fingers, C2H2-type"", ""-"""	13041	protein-coding gene	gene with protein product						12566394	Standard	NM_021045		Approved	bA162G10.3	uc010qeu.2	Q8NDW4	OTTHUMG00000017980	ENST00000395867.3:c.289G>C	chr10.hg19:g.38121994C>G	ENSP00000379208:p.Asp97His	40.0	0.0		76.0	26.0	NM_001267597	Q8NDV8|Q9UMP3	Missense_Mutation	SNP	ENST00000395867.3	hg19	CCDS7194.1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527193	0.27299	.	.	ENSG00000198105	ENST00000395867;ENST00000374648;ENST00000357328;ENST00000395873	T;T;T;T	0.05649	3.41;5.71;3.41;5.64	4.86	3.95	0.45737	.	0.279280	0.25875	N	0.027726	T	0.13970	0.0338	L	0.55834	1.745	0.35022	D	0.757947	P;D	0.65815	0.855;0.995	B;P	0.57371	0.365;0.819	T	0.11494	-1.0585	10	0.54805	T	0.06	.	9.1437	0.36919	0.0:0.9007:0.0:0.0993	.	97;97	Q8NDW4;Q8NDV8	ZN248_HUMAN;.	H	97	ENSP00000379208:D97H;ENSP00000363778:D97H;ENSP00000349882:D97H;ENSP00000379214:D97H	ENSP00000349882:D97H	D	-	1	0	ZNF248	38162000	0.002000	0.14202	1.000000	0.80357	0.105000	0.19272	1.045000	0.30341	1.413000	0.46997	0.563000	0.77884	GAT	.	.		0.368	ZNF248-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047609.1	NM_021045	
DPYSL4	10570	hgsc.bcm.edu	37	10	134018356	134018356	+	Silent	SNP	T	T	C	rs368616410		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr10:134018356T>C	ENST00000338492.4	+	14	1805	c.1641T>C	c.(1639-1641)gaT>gaC	p.D547D	DPYSL4_ENST00000368629.1_Silent_p.D387D|DPYSL4_ENST00000368627.1_Silent_p.D387D	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	547					axon guidance (GO:0007411)|nervous system development (GO:0007399)|pyrimidine nucleobase catabolic process (GO:0006208)	cytosol (GO:0005829)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CTCAGGCTGATGACCACATCG	0.622																																					p.D547D		Atlas-SNP	.											.	DPYSL4	91	.	0			c.T1641C						.	T		1,4405	2.1+/-5.4	0,1,2202	162.0	153.0	156.0		1641	-3.2	0.8	10		156	0,8600		0,0,4300	no	coding-synonymous	DPYSL4	NM_006426.2		0,1,6502	CC,CT,TT		0.0,0.0227,0.0077		547/573	134018356	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10570	exon14			GGCTGATGACCAC	AB006713	CCDS7665.1	10q25.2-q26	2008-05-14			ENSG00000151640	ENSG00000151640			3016	protein-coding gene	gene with protein product		608407				8973361, 9652388	Standard	NM_006426		Approved	ULIP4, DRP-4	uc009ybb.3	O14531	OTTHUMG00000019283	ENST00000338492.4:c.1641T>C	chr10.hg19:g.134018356T>C		86.0	0.0		68.0	29.0	NM_006426	B2RMQ1|D3DRG5|O00240|Q5T0Q7	Silent	SNP	ENST00000338492.4	hg19	CCDS7665.1																																																																																			.	.		0.622	DPYSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051050.2		
USH1C	10083	hgsc.bcm.edu	37	11	17530990	17530990	+	Intron	SNP	A	A	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:17530990A>G	ENST00000318024.4	-	16	1393				USH1C_ENST00000005226.7_Silent_p.N642N|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_005709.3	NP_005700.2	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)						auditory receptor cell differentiation (GO:0042491)|equilibrioception (GO:0050957)|G2/M transition of mitotic cell cycle (GO:0000086)|inner ear morphogenesis (GO:0042472)|parallel actin filament bundle assembly (GO:0030046)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	spectrin binding (GO:0030507)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						CCTCCACTGGATTGCCTGTGT	0.607																																					p.N642N		Atlas-SNP	.											.	USH1C	157	.	0			c.T1926C						.						86.0	76.0	79.0					11																	17530990		2200	4293	6493	SO:0001627	intron_variant	10083	exon18			CACTGGATTGCCT	AB006955	CCDS7825.1, CCDS31438.1, CCDS73265.1	11p14.3	2013-06-19	2004-05-19		ENSG00000006611	ENSG00000006611			12597	protein-coding gene	gene with protein product	"""harmonin"""	605242	"""deafness, autosomal recessive 18"""	DFNB18		10973247, 12107438	Standard	NM_005709		Approved	PDZ73, harmonin, NY-CO-37, NY-CO-38, PDZ-73, AIE-75, PDZD7C	uc001mne.3	Q9Y6N9	OTTHUMG00000166323	ENST00000318024.4:c.1285-7463T>C	chr11.hg19:g.17530990A>G		96.0	0.0		91.0	21.0	NM_153676	A8K423|Q7RTU8|Q96B29|Q9UM04|Q9UM17|Q9UPC3	Silent	SNP	ENST00000318024.4	hg19	CCDS31438.1																																																																																			.	.		0.607	USH1C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000389146.1	NM_005709	
TRAF6	7189	hgsc.bcm.edu	37	11	36516546	36516546	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:36516546T>C	ENST00000526995.1	-	5	904	c.658A>G	c.(658-660)Act>Gct	p.T220A	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Missense_Mutation_p.T220A	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	220	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				ATGAGTATAGTATTGCAGTAT	0.259																																					p.T220A		Atlas-SNP	.											.	TRAF6	56	.	0			c.A658G						.						59.0	65.0	63.0					11																	36516546		2201	4283	6484	SO:0001583	missense	7189	exon5			GTATAGTATTGCA		CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.658A>G	chr11.hg19:g.36516546T>C	ENSP00000433623:p.Thr220Ala	197.0	0.0		354.0	123.0	NM_004620	A6NKI7|A8KAB3|D3DR16|Q8NEH5	Missense_Mutation	SNP	ENST00000526995.1	hg19	CCDS7901.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956005	0.34471	.	.	ENSG00000175104	ENST00000526995;ENST00000348124	T;T	0.25414	1.8;1.8	5.6	5.6	0.85130	Zinc finger, TRAF-type (1);TRAF-like (1);	0.086607	0.85682	D	0.000000	T	0.22126	0.0533	L	0.46947	1.48	0.40062	D	0.97591	B	0.32128	0.357	B	0.30316	0.114	T	0.04635	-1.0937	10	0.08179	T	0.78	-13.8274	15.7861	0.78304	0.0:0.0:0.0:1.0	.	220	Q9Y4K3	TRAF6_HUMAN	A	220	ENSP00000433623:T220A;ENSP00000337853:T220A	ENSP00000337853:T220A	T	-	1	0	TRAF6	36473122	1.000000	0.71417	0.974000	0.42286	0.983000	0.72400	3.311000	0.51919	2.129000	0.65627	0.528000	0.53228	ACT	.	.		0.259	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389530.1	NM_145803	
GYLTL1B	120071	hgsc.bcm.edu	37	11	45948313	45948313	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:45948313C>T	ENST00000531526.1	+	10	1327	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.R406W|GYLTL1B_ENST00000389968.3_Missense_Mutation_p.R133W|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.R375W|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.R406W|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.R375W	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	406					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CTTTGAGTTCCGGCAGCAGCA	0.627																																					p.R406W		Atlas-SNP	.											.	GYLTL1B	45	.	0			c.C1216T						.						76.0	75.0	75.0					11																	45948313		2203	4299	6502	SO:0001583	missense	120071	exon10			GAGTTCCGGCAGC		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.1216C>T	chr11.hg19:g.45948313C>T	ENSP00000432869:p.Arg406Trp	32.0	0.0		34.0	16.0	NM_152312	A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	hg19	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	C	32	5.145324	0.94603	.	.	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139;ENST00000534410	T;T;T;D;T;T	0.84070	0.82;0.81;0.81;-1.8;0.81;0.82	5.37	5.37	0.77165	.	0.054698	0.85682	D	0.000000	D	0.90817	0.7116	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.998	P;P;P	0.61275	0.88;0.776;0.886	D	0.91802	0.5452	10	0.72032	D	0.01	-21.1699	19.1135	0.93328	0.0:1.0:0.0:0.0	.	375;375;406	B3KP69;E9PIZ2;Q8N3Y3	.;.;LARG2_HUMAN	W	375;406;406;133;406;375;67	ENSP00000431932:R375W;ENSP00000432869:R406W;ENSP00000385235:R406W;ENSP00000374618:R133W;ENSP00000324570:R406W;ENSP00000445044:R375W	ENSP00000324570:R406W	R	+	1	2	GYLTL1B	45904889	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	7.438000	0.80431	2.528000	0.85240	0.561000	0.74099	CGG	.	.		0.627	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312	
OR4C3	256144	hgsc.bcm.edu	37	11	48347263	48347263	+	Silent	SNP	G	G	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:48347263G>A	ENST00000319856.4	+	1	792	c.771G>A	c.(769-771)ggG>ggA	p.G257G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	230						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(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGCAGATGGGAGATGCAAAG	0.473																																					p.G257G		Atlas-SNP	.											.	OR4C3	75	.	0			c.G771A						.						261.0	208.0	226.0					11																	48347263		2201	4298	6499	SO:0001819	synonymous_variant	256144	exon1			AGATGGGAGATGC	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.771G>A	chr11.hg19:g.48347263G>A		183.0	0.0		206.0	21.0	NM_001004702	B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	hg19	CCDS31489.1																																																																																			.	.		0.473	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702	
BTBD18	643376	hgsc.bcm.edu	37	11	57512438	57512438	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:57512438G>T	ENST00000436147.3	-	2	1494	c.1307C>A	c.(1306-1308)tCc>tAc	p.S436Y	BTBD18_ENST00000422652.1_Missense_Mutation_p.S436Y|RP11-691N7.6_ENST00000531074.1_Intron|TMX2-CTNND1_ENST00000528395.1_Intron			B2RXH4	BTBDI_HUMAN	BTB (POZ) domain containing 18	436										endometrium(3)|kidney(1)	4						GTGGTCTGGGGAGTGGCTAGC	0.488																																					p.S436Y		Atlas-SNP	.											.	BTBD18	26	.	0			c.C1307A						.						107.0	85.0	92.0					11																	57512438		692	1591	2283	SO:0001583	missense	643376	exon3			TCTGGGGAGTGGC		CCDS44603.1	11q12.1	2013-01-08			ENSG00000233436	ENSG00000233436		"""BTB/POZ domain containing"""	37214	protein-coding gene	gene with protein product							Standard	NM_001145101		Approved		uc010rjy.2	B2RXH4	OTTHUMG00000167203	ENST00000436147.3:c.1307C>A	chr11.hg19:g.57512438G>T	ENSP00000397020:p.Ser436Tyr	71.0	0.0		52.0	26.0	NM_001145101		Missense_Mutation	SNP	ENST00000436147.3	hg19	CCDS44603.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509478	0.27036	.	.	ENSG00000233436	ENST00000422652;ENST00000436147	T;T	0.80033	-1.33;-1.33	5.31	4.32	0.51571	.	.	.	.	.	T	0.71108	0.3301	L	0.27053	0.805	0.23882	N	0.996575	P	0.46912	0.886	B	0.44133	0.442	T	0.63506	-0.6622	9	0.59425	D	0.04	.	8.0183	0.30393	0.1106:0.0:0.8894:0.0	.	436	B2RXH4	BTBDI_HUMAN	Y	436	ENSP00000394472:S436Y;ENSP00000397020:S436Y	ENSP00000394472:S436Y	S	-	2	0	BTBD18	57269014	0.993000	0.37304	0.994000	0.49952	0.204000	0.24138	1.672000	0.37523	2.764000	0.94973	0.557000	0.71058	TCC	.	.		0.488	BTBD18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393718.2	NM_001145101	
KRTAP5-7	440050	hgsc.bcm.edu	37	11	71238415	71238415	+	Silent	SNP	C	C	A	rs536333110	byFrequency	TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:71238415C>A	ENST00000398536.4	+	1	103	c.69C>A	c.(67-69)ggC>ggA	p.G23G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	23						keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GCTGTGGGGGCTGTGGCTCTG	0.657													c|||	7	0.00139776	0.0	0.0014	5008	,	,		10887	0.006		0.0	False		,,,				2504	0.0				p.G23G		Atlas-SNP	.											.	KRTAP5-7	23	.	0			c.C69A						.						58.0	76.0	70.0					11																	71238415		2193	4285	6478	SO:0001819	synonymous_variant	440050	exon1			TGGGGGCTGTGGC	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.69C>A	chr11.hg19:g.71238415C>A		107.0	0.0		131.0	12.0	NM_001012503	B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	hg19	CCDS41682.1																																																																																			.	.		0.657	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1		
BRAP	8315	hgsc.bcm.edu	37	12	112093435	112093435	+	Missense_Mutation	SNP	G	G	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	78.0	0.0		105.0	38.0	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		
ZNF10	7556	hgsc.bcm.edu	37	12	133733009	133733009	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr12:133733009A>G	ENST00000248211.6	+	5	1399	c.1177A>G	c.(1177-1179)Att>Gtt	p.I393V	ZNF10_ENST00000426665.2_Missense_Mutation_p.I393V|ZNF10_ENST00000402932.2_Missense_Mutation_p.I259V|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	64.0	0.0		66.0	25.0	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	
POMP	51371	hgsc.bcm.edu	37	13	29242666	29242666	+	Silent	SNP	A	A	G	rs560145213		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr13:29242666A>G	ENST00000380842.4	+	4	300	c.219A>G	c.(217-219)ctA>ctG	p.L73L	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	73					proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TTCAGGGTCTATTTGCTCCGC	0.373													A|||	1	0.000199681	0.0008	0.0	5008	,	,		17728	0.0		0.0	False		,,,				2504	0.0				p.L73L		Atlas-SNP	.											.	POMP	15	.	0			c.A219G						.						116.0	110.0	112.0					13																	29242666		2203	4300	6503	SO:0001819	synonymous_variant	51371	exon4			GGGTCTATTTGCT	AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.219A>G	chr13.hg19:g.29242666A>G		68.0	0.0		75.0	19.0	NM_015932	A5HKJ2|D6MXU3|Q9HB69	Silent	SNP	ENST00000380842.4	hg19	CCDS9331.1																																																																																			.	.		0.373	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044327.1	NM_015932	
NBEA	26960	hgsc.bcm.edu	37	13	35756573	35756573	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr13:35756573G>A	ENST00000400445.3	+	29	5273	c.4739G>A	c.(4738-4740)cGt>cAt	p.R1580H	NBEA_ENST00000540320.1_Missense_Mutation_p.R1580H|NBEA_ENST00000310336.4_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	76.0	0.0		184.0	62.0	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	
NOVA1	4857	hgsc.bcm.edu	37	14	26917336	26917336	+	Silent	SNP	A	A	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr14:26917336A>T	ENST00000539517.2	-	5	1670	c.1353T>A	c.(1351-1353)acT>acA	p.T451T	NOVA1_ENST00000465357.2_Silent_p.T427T|NOVA1_ENST00000267422.7_Silent_p.T329T	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	454	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				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)		TCCTTGCACCAGTCAACTCCT	0.453																																					p.T451T		Atlas-SNP	.											.	NOVA1	146	.	0			c.T1353A						.						166.0	134.0	145.0					14																	26917336		2203	4300	6503	SO:0001819	synonymous_variant	4857	exon5			TGCACCAGTCAAC	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.1353T>A	chr14.hg19:g.26917336A>T		232.0	0.0		263.0	96.0	NM_002515	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Silent	SNP	ENST00000539517.2	hg19	CCDS32061.1																																																																																			.	.		0.453	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
SLC10A1	6554	hgsc.bcm.edu	37	14	70252897	70252897	+	Missense_Mutation	SNP	A	A	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	70.0	0.0		76.0	36.0	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		
HERC2	8924	hgsc.bcm.edu	37	15	28465614	28465614	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr15:28465614G>T	ENST00000261609.7	-	37	5937	c.5829C>A	c.(5827-5829)gaC>gaA	p.D1943E		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)		CATCCTCTGTGTCCGAATCCT	0.572																																					p.D1943E		Atlas-SNP	.											.	HERC2	501	.	0			c.C5829A						.						140.0	137.0	138.0					15																	28465614		2203	4300	6503	SO:0001583	missense	8924	exon37			CTCTGTGTCCGAA	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.5829C>A	chr15.hg19:g.28465614G>T	ENSP00000261609:p.Asp1943Glu	18.0	0.0		23.0	9.0	NM_004667		Missense_Mutation	SNP	ENST00000261609.7	hg19	CCDS10021.1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892424	0.33442	.	.	ENSG00000128731	ENST00000261609	T	0.37235	1.21	4.64	3.69	0.42338	.	0.105688	0.64402	D	0.000008	T	0.40498	0.1119	L	0.28274	0.84	0.58432	D	0.999999	D	0.58970	0.984	D	0.68192	0.956	T	0.05209	-1.0899	10	0.11182	T	0.66	.	13.2565	0.60081	0.0788:0.0:0.9212:0.0	.	1943	O95714	HERC2_HUMAN	E	1943	ENSP00000261609:D1943E	ENSP00000261609:D1943E	D	-	3	2	HERC2	26139209	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.399000	0.59703	2.411000	0.81874	0.650000	0.86243	GAC	.	.		0.572	HERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251358.2	NM_004667	
SLC12A1	6557	hgsc.bcm.edu	37	15	48595052	48595052	+	Silent	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr15:48595052T>C	ENST00000558405.1	+	26	3284	c.3270T>C	c.(3268-3270)aaT>aaC	p.N1090N	SLC12A1_ENST00000380993.3_Silent_p.N1090N|SLC12A1_ENST00000396577.3_Silent_p.N1090N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	1090					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTAGAGGAAATCACAAAAATG	0.343																																					p.N1090N		Atlas-SNP	.											.	SLC12A1	243	.	0			c.T3270C						.						86.0	88.0	87.0					15																	48595052		2198	4297	6495	SO:0001819	synonymous_variant	6557	exon27			AGGAAATCACAAA		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.3270T>C	chr15.hg19:g.48595052T>C		66.0	0.0		89.0	31.0	NM_001184832	A8JYA2|E9PDW4	Silent	SNP	ENST00000558405.1	hg19	CCDS10129.2																																																																																			.	.		0.343	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1		
TNFAIP8L3	388121	hgsc.bcm.edu	37	15	51397266	51397266	+	Silent	SNP	C	C	T	rs267604247		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr15:51397266C>T	ENST00000327536.5	-	1	207	c.108G>A	c.(106-108)agG>agA	p.R36R	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	36										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACGTGGCATCCCTTGTGCCTT	0.522																																					p.R36R		Atlas-SNP	.											.	TNFAIP8L3	30	.	0			c.G108A						.						277.0	218.0	238.0					15																	51397266		2196	4293	6489	SO:0001819	synonymous_variant	388121	exon1			GGCATCCCTTGTG	AK123281	CCDS32241.1	15q21.2	2005-08-09				ENSG00000183578			20620	protein-coding gene	gene with protein product							Standard	XM_005254367		Approved	FLJ41287	uc001zyy.3	Q5GJ75		ENST00000327536.5:c.108G>A	chr15.hg19:g.51397266C>T		111.0	0.0		126.0	37.0	NM_207381	Q6ZWD1	Silent	SNP	ENST00000327536.5	hg19	CCDS32241.1																																																																																			.	.		0.522	TNFAIP8L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418661.1	NM_207381	
MEGF11	84465	hgsc.bcm.edu	37	15	66209210	66209210	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr15:66209210G>A	ENST00000409699.2	-	17	2343	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V	MEGF11_ENST00000395625.2_Missense_Mutation_p.A649V|MEGF11_ENST00000288745.3_Missense_Mutation_p.A649V|MEGF11_ENST00000360698.4_Missense_Mutation_p.A724V|MEGF11_ENST00000422354.1_Missense_Mutation_p.A724V|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000478721.1_5'Flank			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	724	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GCAGTGGCAGGCCCCGTCCTC	0.667											OREG0023198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									p.A724V		Atlas-SNP	.											.	MEGF11	70	.	0			c.C2171T						.						20.0	19.0	19.0					15																	66209210		2200	4296	6496	SO:0001583	missense	84465	exon17			TGGCAGGCCCCGT	AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.2171C>T	chr15.hg19:g.66209210G>A	ENSP00000386908:p.Ala724Val	44.0	0.0	1090	81.0	29.0	NM_032445	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	ENST00000409699.2	hg19	CCDS10213.2	.	.	.	.	.	.	.	.	.	.	G	19.31	3.803260	0.70682	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698	T;T;T;T;T	0.34072	1.38;1.38;1.38;1.38;1.38	4.66	2.64	0.31445	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.471570	0.15637	U	0.252065	T	0.33498	0.0865	L	0.43598	1.365	0.28218	N	0.92667	P;P	0.48640	0.858;0.913	B;P	0.49528	0.434;0.614	T	0.09250	-1.0683	10	0.25106	T	0.35	.	6.0547	0.19804	0.0983:0.0:0.5198:0.3819	.	724;649	A6BM72;A6BM72-2	MEG11_HUMAN;.	V	724;649;724;649;724	ENSP00000386908:A724V;ENSP00000288745:A649V;ENSP00000414475:A724V;ENSP00000378987:A649V;ENSP00000353919:A724V	ENSP00000288745:A649V	A	-	2	0	MEGF11	63996264	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.543000	0.73874	0.971000	0.38288	0.485000	0.47835	GCC	.	.		0.667	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329307.2	NM_032445	
TP53	7157	hgsc.bcm.edu	37	17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr17:7578271T>C	ENST00000269305.4	-	6	767	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000420246.2_Missense_Mutation_p.H193R|TP53_ENST00000455263.2_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	79.0	0.0		61.0	35.0	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	
DDX42	11325	hgsc.bcm.edu	37	17	61890756	61890756	+	Missense_Mutation	SNP	G	G	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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_ENST00000359353.5_Missense_Mutation_p.R496L|DDX42_ENST00000583590.1_Missense_Mutation_p.R615L	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	87.0	0.0		85.0	23.0	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	
YES1	7525	hgsc.bcm.edu	37	18	745776	745776	+	Missense_Mutation	SNP	T	T	C	rs557201481		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr18:745776T>C	ENST00000584307.1	-	6	826	c.656A>G	c.(655-657)aAt>aGt	p.N219S	YES1_ENST00000577961.1_Missense_Mutation_p.N224S|YES1_ENST00000314574.4_Missense_Mutation_p.N219S			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	219	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GTATCCACCATTGTCAAGTTT	0.348													T|||	1	0.000199681	0.0	0.0	5008	,	,		17674	0.0		0.0	False		,,,				2504	0.001				p.N219S		Atlas-SNP	.											.	YES1	50	.	0			c.A656G						.						163.0	147.0	152.0					18																	745776		2203	4299	6502	SO:0001583	missense	7525	exon6			CCACCATTGTCAA	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.656A>G	chr18.hg19:g.745776T>C	ENSP00000462468:p.Asn219Ser	103.0	0.0		152.0	62.0	NM_005433	A6NLB3|D3DUH1	Missense_Mutation	SNP	ENST00000584307.1	hg19	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	T	10.42	1.344976	0.24426	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	T	0.26373	1.74	5.7	5.7	0.88788	SH2 motif (4);	0.082383	0.85682	D	0.000000	T	0.20659	0.0497	L	0.31120	0.905	0.49299	D	0.999772	B	0.02656	0.0	B	0.01281	0.0	T	0.04440	-1.0951	10	0.22109	T	0.4	.	15.9666	0.79979	0.0:0.0:0.0:1.0	.	219	P07947	YES_HUMAN	S	219	ENSP00000324740:N219S	ENSP00000324740:N219S	N	-	2	0	YES1	735776	0.969000	0.33509	1.000000	0.80357	0.995000	0.86356	0.517000	0.22832	2.174000	0.68829	0.482000	0.46254	AAT	.	.		0.348	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	
ZNF91	7644	hgsc.bcm.edu	37	19	23545393	23545393	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr19:23545393C>A	ENST00000300619.7	-	4	593	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.D98Y	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	104.0	0.0		130.0	37.0	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	
PCSK2	5126	hgsc.bcm.edu	37	20	17208109	17208109	+	Silent	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr20:17208109C>T	ENST00000262545.2	+	1	474	c.159C>T	c.(157-159)caC>caT	p.H53H	PCSK2_ENST00000377899.1_Silent_p.H34H|PCSK2_ENST00000536609.1_Silent_p.H53H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	53					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.H53H(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	CAGCAGAACACGGCTTTGGAG	0.522																																					p.H53H		Atlas-SNP	.											PCSK2,colon,carcinoma,0,2	PCSK2	112	.	1	Substitution - coding silent(1)	lung(1)	c.C159T						.						69.0	59.0	63.0					20																	17208109		2203	4300	6503	SO:0001819	synonymous_variant	5126	exon1			AGAACACGGCTTT	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.159C>T	chr20.hg19:g.17208109C>T		80.0	0.0		86.0	33.0	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	hg19	CCDS13125.1																																																																																			.	.		0.522	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
HUNK	30811	hgsc.bcm.edu	37	21	33296847	33296847	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	38.0	0.0		67.0	18.0	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	
KRTAP10-12	386685	hgsc.bcm.edu	37	21	46117591	46117591	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr21:46117591C>T	ENST00000400365.3	+	1	505	c.475C>T	c.(475-477)Ccc>Tcc	p.P159S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	159	19 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				large_intestine(1)|lung(8)	9						CTGCTGCAAGCCCATCTGCTG	0.622																																					p.P159S		Atlas-SNP	.											.	KRTAP10-12	21	.	0			c.C475T						.						182.0	189.0	187.0					21																	46117591		2203	4300	6503	SO:0001583	missense	386685	exon1			TGCAAGCCCATCT	AB076364	CCDS42967.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000189169	ENSG00000189169		"""Keratin associated proteins"""	20533	protein-coding gene	gene with protein product			"""keratin associated protein 18-12"""	KRTAP18-12			Standard	NM_198699		Approved	KRTAP18.12, KAP10.12	uc002zfw.1	P60413	OTTHUMG00000057629	ENST00000400365.3:c.475C>T	chr21.hg19:g.46117591C>T	ENSP00000383216:p.Pro159Ser	163.0	0.0		107.0	37.0	NM_198699	B2RPA3	Missense_Mutation	SNP	ENST00000400365.3	hg19	CCDS42967.1	.	.	.	.	.	.	.	.	.	.	c	5.764	0.325382	0.10900	.	.	ENSG00000189169	ENST00000400365;ENST00000452870	T	0.01139	5.28	3.64	3.64	0.41730	.	.	.	.	.	T	0.03220	0.0094	L	0.46157	1.445	0.22866	N	0.99863	P	0.52316	0.952	P	0.57371	0.819	T	0.45673	-0.9245	9	0.49607	T	0.09	.	11.1263	0.48320	0.0:1.0:0.0:0.0	.	159	P60413	KR10C_HUMAN	S	159;67	ENSP00000383216:P159S	ENSP00000383216:P159S	P	+	1	0	KRTAP10-12	44942019	0.103000	0.21917	0.045000	0.18777	0.036000	0.12997	1.208000	0.32345	1.707000	0.51288	0.195000	0.17529	CCC	.	.		0.622	KRTAP10-12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128032.1	NM_198699	
PLA2G6	8398	hgsc.bcm.edu	37	22	38528998	38528998	+	Missense_Mutation	SNP	C	C	T	rs374007706		TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr22:38528998C>T	ENST00000332509.3	-	7	1100	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	PLA2G6_ENST00000402064.1_Missense_Mutation_p.R306Q|PLA2G6_ENST00000335539.3_Missense_Mutation_p.R306Q	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	306					cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GTTGCAGCCCCGTTTCAGCAG	0.667																																					p.R306Q		Atlas-SNP	.											.	PLA2G6	54	.	0			c.G917A						.	C	GLN/ARG,GLN/ARG,GLN/ARG	1,4387		0,1,2193	47.0	31.0	37.0		917,917,917	4.6	1.0	22		37	1,8579		0,1,4289	no	missense,missense,missense	PLA2G6	NM_001004426.1,NM_001199562.1,NM_003560.2	43,43,43	0,2,6482	TT,TC,CC		0.0117,0.0228,0.0154	probably-damaging,probably-damaging,probably-damaging	306/753,306/753,306/807	38528998	2,12966	2194	4290	6484	SO:0001583	missense	8398	exon7			CAGCCCCGTTTCA	AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.917G>A	chr22.hg19:g.38528998C>T	ENSP00000333142:p.Arg306Gln	57.0	0.0		39.0	17.0	NM_003560	A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Missense_Mutation	SNP	ENST00000332509.3	hg19	CCDS13967.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.985681|3.985681	0.74589|0.74589	2.28E-4|2.28E-4	1.17E-4|1.17E-4	ENSG00000184381|ENSG00000184381	ENST00000427114;ENST00000427453;ENST00000452542|ENST00000332509;ENST00000419848;ENST00000335539;ENST00000402064;ENST00000335538;ENST00000396860;ENST00000451461	.|T;T;T	.|0.65549	.|-0.16;-0.16;-0.16	5.56|5.56	4.55|4.55	0.56014|0.56014	.|Ankyrin repeat-containing domain (3);	.|0.312733	.|0.32204	.|N	.|0.006425	T|T	0.65575|0.65575	0.2704|0.2704	L|L	0.45352|0.45352	1.415|1.415	0.09310|0.09310	N|N	1|1	.|D;P;D	.|0.89917	.|1.0;0.942;0.959	.|D;P;B	.|0.65684	.|0.937;0.455;0.347	T|T	0.54827|0.54827	-0.8235|-0.8235	5|10	.|0.22109	.|T	.|0.4	-24.7838|-24.7838	8.5236|8.5236	0.33291|0.33291	0.0:0.8263:0.0:0.1737|0.0:0.8263:0.0:0.1737	.|.	.|271;306;306	.|B7Z6K3;O60733-2;O60733	.|.;.;PA2G6_HUMAN	R|Q	111;58;137|306;167;306;306;234;306;271	.|ENSP00000333142:R306Q;ENSP00000335149:R306Q;ENSP00000386100:R306Q	.|ENSP00000333142:R306Q	G|R	-|-	1|2	0|0	PLA2G6|PLA2G6	36858944|36858944	0.051000|0.051000	0.20477|0.20477	0.998000|0.998000	0.56505|0.56505	0.987000|0.987000	0.75469|0.75469	1.277000|1.277000	0.33167|0.33167	2.620000|2.620000	0.88729|0.88729	0.650000|0.650000	0.86243|0.86243	GGG|CGG	.	.		0.667	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321860.1	NM_001004426	
MGAT3	4248	hgsc.bcm.edu	37	22	39883537	39883537	+	Missense_Mutation	SNP	C	C	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr22:39883537C>A	ENST00000341184.6	+	2	400	c.185C>A	c.(184-186)cCc>cAc	p.P62H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	62	Pro-rich.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					CAGGCCAGCCCCGAGCCAGGA	0.677																																					p.P62H		Atlas-SNP	.											.	MGAT3	65	.	0			c.C185A						.						78.0	87.0	84.0					22																	39883537		2203	4300	6503	SO:0001583	missense	4248	exon2			CCAGCCCCGAGCC	D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.185C>A	chr22.hg19:g.39883537C>A	ENSP00000345270:p.Pro62His	60.0	0.0		47.0	18.0	NM_002409	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	ENST00000341184.6	hg19	CCDS13994.2	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069976	0.55539	.	.	ENSG00000128268	ENST00000341184;ENST00000429402;ENST00000418314	.	.	.	5.03	5.03	0.67393	.	0.583594	0.16049	N	0.232060	T	0.57169	0.2035	N	0.24115	0.695	0.42326	D	0.992278	D	0.54047	0.964	P	0.50791	0.65	T	0.63834	-0.6547	9	0.72032	D	0.01	.	18.3612	0.90375	0.0:1.0:0.0:0.0	.	62	Q09327	MGAT3_HUMAN	H	62;62;90	.	ENSP00000345270:P62H	P	+	2	0	MGAT3	38213483	0.991000	0.36638	0.976000	0.42696	0.934000	0.57294	4.146000	0.58072	2.338000	0.79540	0.467000	0.42956	CCC	.	.		0.677	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075039.2	NM_002409	
PPARA	5465	hgsc.bcm.edu	37	22	46615711	46615711	+	Missense_Mutation	SNP	A	A	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr22:46615711A>C	ENST00000396000.2	+	6	776	c.511A>C	c.(511-513)Att>Ctt	p.I171L	PPARA_ENST00000402126.1_Missense_Mutation_p.I171L|PPARA_ENST00000407236.1_Missense_Mutation_p.I171L|PPARA_ENST00000434345.2_Intron|PPARA_ENST00000262735.5_Missense_Mutation_p.I171L			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	171					behavioral response to nicotine (GO:0035095)|cellular lipid metabolic process (GO:0044255)|circadian regulation of gene expression (GO:0032922)|enamel mineralization (GO:0070166)|epidermis development (GO:0008544)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|negative regulation of appetite (GO:0032099)|negative regulation of blood pressure (GO:0045776)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of glycolytic process (GO:0045820)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of sequestering of triglyceride (GO:0010891)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular ketone metabolic process by positive regulation of transcription from RNA polymerase II promoter (GO:0072366)|regulation of circadian rhythm (GO:0042752)|regulation of glycolytic by positive regulation of transcription from RNA polymerase II promoter (GO:0072363)|regulation of lipid transport by positive regulation of transcription from RNA polymerase II promoter (GO:0072369)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|lipid binding (GO:0008289)|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)|RNA polymerase II repressing transcription factor binding (GO:0001103)|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)|steroid hormone receptor activity (GO:0003707)|ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Indomethacin(DB00328)	AACCCTAGCGATTCGTTTTGG	0.488																																					p.I171L		Atlas-SNP	.											.	PPARA	36	.	0			c.A511C						.						69.0	64.0	66.0					22																	46615711		2203	4300	6503	SO:0001583	missense	5465	exon6			CTAGCGATTCGTT	L02932	CCDS33669.1	22q12-q13.1	2013-01-16	2006-10-17		ENSG00000186951	ENSG00000186951		"""Nuclear hormone receptors"""	9232	protein-coding gene	gene with protein product		170998	"""peroxisome proliferative activated receptor, alpha"""	PPAR		7684926, 10591208	Standard	XM_005261655		Approved	hPPAR, NR1C1	uc003bgx.1	Q07869	OTTHUMG00000150443	ENST00000396000.2:c.511A>C	chr22.hg19:g.46615711A>C	ENSP00000379322:p.Ile171Leu	25.0	0.0		43.0	22.0	NM_001001928	B0G0X3|Q16241|Q6I9S0|Q92486|Q92689|Q9Y3N1	Missense_Mutation	SNP	ENST00000396000.2	hg19	CCDS33669.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313025	0.60414	.	.	ENSG00000186951	ENST00000396000;ENST00000262735;ENST00000407236;ENST00000402126	D;D;D;D	0.96200	-3.94;-3.94;-3.94;-3.94	5.51	5.51	0.81932	Nuclear hormone receptor, ligand-binding (1);Zinc finger, nuclear hormone receptor-type (1);	0.000000	0.85682	D	0.000000	D	0.95981	0.8691	M	0.84773	2.715	0.80722	D	1	B;B	0.21905	0.062;0.062	B;B	0.32211	0.142;0.142	D	0.94764	0.7939	10	0.87932	D	0	.	14.8173	0.70045	1.0:0.0:0.0:0.0	.	171;171	F1D8S4;Q07869	.;PPARA_HUMAN	L	171	ENSP00000379322:I171L;ENSP00000262735:I171L;ENSP00000385523:I171L;ENSP00000385246:I171L	ENSP00000262735:I171L	I	+	1	0	PPARA	44994375	1.000000	0.71417	0.928000	0.36995	0.339000	0.28857	9.101000	0.94219	2.082000	0.62665	0.454000	0.30748	ATT	.	.		0.488	PPARA-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318129.3	NM_001001928	
GPR34	2857	hgsc.bcm.edu	37	X	41555141	41555141	+	Silent	SNP	A	A	G			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chrX:41555141A>G	ENST00000378142.4	+	3	539	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Silent_p.K85K|CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	85					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						TTCACCGTAAAAGAAATTCCA	0.388																																					p.K85K		Atlas-SNP	.											.	GPR34	42	.	0			c.A255G						.						113.0	104.0	107.0					X																	41555141		2203	4300	6503	SO:0001819	synonymous_variant	2857	exon3			CCGTAAAAGAAAT	AF039686	CCDS14258.1	Xp11.4	2012-08-21			ENSG00000171659	ENSG00000171659		"""GPCR / Class A : Orphans"""	4490	protein-coding gene	gene with protein product		300241				10395919, 10036181	Standard	NM_005300		Approved		uc004dfq.4	Q9UPC5	OTTHUMG00000021375	ENST00000378142.4:c.255A>G	chrX.hg19:g.41555141A>G		49.0	0.0		105.0	50.0	NM_001097579	O95853	Silent	SNP	ENST00000378142.4	hg19	CCDS14258.1																																																																																			.	.		0.388	GPR34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056264.1	NM_005300	
OCRL	4952	hgsc.bcm.edu	37	X	128722192	128722192	+	Missense_Mutation	SNP	C	C	T			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	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	27.0	0.0		35.0	28.0	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	
MT-ND1	4535	hgsc.bcm.edu	37	M	4112	4112	+	Missense_Mutation	SNP	T	T	C			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chrM:4112T>C	ENST00000361390.2	+	1	806	c.806T>C	c.(805-807)cTg>cCg	p.L269P	MT-TA_ENST00000387392.1_RNA|MT-CO1_ENST00000361624.2_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-TM_ENST00000387377.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1	269					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TCTAACCTCCCTGTTCTTATG	0.448																																					p.L269P		Atlas-SNP	.											.	.	.	.	0			c.T806C						.																																			SO:0001583	missense	10625	exon1			CCTCCCTGTTCTT			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886		ENST00000361390.2:c.806T>C	chrM.hg19:g.4112T>C	ENSP00000354687:p.Leu269Pro	200.0	0.0		474.0	41.0	ENST00000361390	C0JKH6|Q37523	Missense_Mutation	SNP	ENST00000361390.2	hg19																																																																																				.	.		0.448	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024026	
MT-ND6	4541	hgsc.bcm.edu	37	M	14423	14423	+	Missense_Mutation	SNP	G	G	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chrM:14423G>A	ENST00000361681.2	-	1	250	c.251C>T	c.(250-252)tCa>tTa	p.S84L	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6	84					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						CCTCAACCCCTGACCCCCATG	0.453																																					p.S84L		Atlas-SNP	.											.	.	.	.	0			c.C251T						.																																			SO:0001583	missense	0	exon1			ACCCCTGACCCCC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923		ENST00000361681.2:c.251C>T	chrM.hg19:g.14423G>A	ENSP00000354665:p.Ser84Leu	277.0	0.0		710.0	223.0	ENST00000361681	Q34774|Q8HG30	Missense_Mutation	SNP	ENST00000361681.2	hg19																																																																																				.	.		0.453	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024037	
SPRR3	6707	hgsc.bcm.edu	37	1	152975806	152975829	+	In_Frame_Del	DEL	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	-	rs1970328|rs561001430|rs72704847|rs527966074|rs200495953	byFrequency	TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	CCAGGCTACACCAAGGTCCCTGAA	CCAGGCTACACCAAGGTCCCTGAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr1:152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENST00000295367.4	+	2	352_375	c.310_333delCCAGGCTACACCAAGGTCCCTGAA	c.(310-333)ccaggctacaccaaggtccctgaadel	p.PGYTKVPE104del	SPRR3_ENST00000331860.3_In_Frame_Del_p.PGYTKVPE104del|SPRR3_ENST00000542696.1_In_Frame_Del_p.PGYTKVPE96del	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	104	14 X 8 AA approximate tandem repeats.		Missing.		epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)	p.Y106C(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCCCTGAGCCAGGCTACACCAAGGTCCCTGAACCAGGCAGCA	0.567														567	0.113219	0.1082	0.062	5008	,	,		23905	0.1528		0.1133	False		,,,				2504	0.1155				p.103_111del		Atlas-INDEL	.											.	SPRR3	45	.	1	Substitution - Missense(1)	kidney(1)	c.309_332del						.		,	1170,3096		431,308,1394					,	3.4	0.4		dbSNP_130	84	2304,5950		748,808,2571	no	coding,coding	SPRR3	NM_005416.2,NM_001097589.1	,	1179,1116,3965	A1A1,A1R,RR		27.9137,27.4262,27.7476	,	,		3474,9046				SO:0001651	inframe_deletion	6707	exon2			.	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.310_333delCCAGGCTACACCAAGGTCCCTGAA	chr1.hg19:g.152975806_152975829delCCAGGCTACACCAAGGTCCCTGAA	ENSP00000295367:p.Pro104_Glu111del	44.0	0.0		85.0	17.0	NM_001097589	A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	In_Frame_Del	DEL	ENST00000295367.4	hg19	CCDS1033.1																																																																																			.	.		0.567	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416	
PTPN3	5774	hgsc.bcm.edu	37	9	112145782	112145782	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr9:112145782delC	ENST00000374541.2	-	23	2407	c.2303delG	c.(2302-2304)ggcfs	p.G769fs	PTPN3_ENST00000412145.1_Frame_Shift_Del_p.G638fs|PTPN3_ENST00000394827.3_Frame_Shift_Del_p.G237fs|PTPN3_ENST00000262539.3_Frame_Shift_Del_p.G615fs|PTPN3_ENST00000446349.1_Frame_Shift_Del_p.G593fs	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	769	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GTGAAAGCCGCCGTGGTTCAT	0.587																																					p.G768fs		Atlas-Indel,Pindel	.											.	PTPN3	106	.	0			c.2304delC						.						132.0	123.0	126.0					9																	112145782		2203	4300	6503	SO:0001589	frameshift_variant	5774	exon23			.		CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2303delG	chr9.hg19:g.112145782delC	ENSP00000363667:p.Gly769fs	60.0	0.0		54.0	18.0	NM_002829	A0AUW9|E7EN99|E9PGU7	Frame_Shift_Del	DEL	ENST00000374541.2	hg19	CCDS6776.1																																																																																			.	.		0.587	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053598.4		
MRPL11	65003	hgsc.bcm.edu	37	11	66204833	66204833	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr11:66204833delC	ENST00000310999.7	-	3	394	c.301delG	c.(301-303)gccfs	p.A101fs	MRPL11_ENST00000329819.4_Frame_Shift_Del_p.A101fs|MRPL11_ENST00000430466.2_Frame_Shift_Del_p.A75fs|MRPL11_ENST00000524576.1_5'UTR	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	101					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						GTTTGCCGGGCCCCCTTTTCA	0.507																																					p.A101fs		Atlas-INDEL	.											.	MRPL11	25	.	0			c.302delC						.						59.0	59.0	59.0					11																	66204833		2200	4295	6495	SO:0001589	frameshift_variant	65003	exon3			.	AB051338	CCDS8139.1, CCDS8140.1, CCDS44655.1	11q13.2	2012-11-14			ENSG00000174547	ENSG00000174547		"""Mitochondrial ribosomal proteins / large subunits"""	14042	protein-coding gene	gene with protein product		611826					Standard	XR_247672		Approved		uc001ohz.4	Q9Y3B7	OTTHUMG00000167097	ENST00000310999.7:c.301delG	chr11.hg19:g.66204833delC	ENSP00000308897:p.Ala101fs	75.0	0.0		42.0	12.0	NM_170739	A6NLT0|A8K219|Q32P46|Q96Q73	Frame_Shift_Del	DEL	ENST00000310999.7	hg19	CCDS8139.1																																																																																			.	.		0.507	MRPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393098.2	NM_016050	
INTS10	55174	hgsc.bcm.edu	37	8	19682357	19682358	+	Frame_Shift_Ins	INS	-	-	A			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr8:19682357_19682358insA	ENST00000397977.3	+	8	1278_1279	c.880_881insA	c.(880-882)tacfs	p.Y294fs		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	294					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TCTCTGCAGATACATGAACAAC	0.371																																					p.Y294_M295delinsX		Atlas-INDEL	.											.	INTS10	46	.	0			c.880_881insA						.																																			SO:0001589	frameshift_variant	55174	exon8			.	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.881dupA	chr8.hg19:g.19682358_19682358dupA	ENSP00000381064:p.Tyr294fs	57.0	0.0		64.0	27.0	NM_018142	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Frame_Shift_Ins	INS	ENST00000397977.3	hg19	CCDS6011.2																																																																																			.	.		0.371	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253724.2	NM_018142	
ABCB1	5243	hgsc.bcm.edu	37	7	87214868	87214868	+	Frame_Shift_Del	DEL	T	T	-			TCGA-G3-A25Z-01A-11D-A16V-10	TCGA-G3-A25Z-10A-01D-A16V-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	3fd6af37-1d08-48ee-ab7f-162bb2005b98	543bf78c-8771-4841-84c6-cee5677bb250	g.chr7:87214868delT	ENST00000265724.3	-	5	663	c.246delA	c.(244-246)gcafs	p.A82fs	ABCB1_ENST00000543898.1_Frame_Shift_Del_p.A82fs	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	82	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTAAATTTCCTGCATTTGCAA	0.393																																					p.G83fs		Atlas-INDEL	.											.	ABCB1	263	.	0			c.247delG						.						93.0	91.0	92.0					7																	87214868		2203	4300	6503	SO:0001589	frameshift_variant	5243	exon5			.	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.246delA	chr7.hg19:g.87214868delT	ENSP00000265724:p.Ala82fs	46.0	0.0		40.0	11.0	NM_000927	A8K294|B5AK60|Q12755|Q14812	Frame_Shift_Del	DEL	ENST00000265724.3	hg19	CCDS5608.1																																																																																			.	.		0.393	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
