#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
MFN2	9927	hgsc.bcm.edu	37	1	12069707	12069707	+	Missense_Mutation	SNP	C	C	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:12069707C>G	ENST00000235329.5	+	18	2450	c.2128C>G	c.(2128-2130)Ctg>Gtg	p.L710V	MFN2_ENST00000444836.1_Missense_Mutation_p.L710V	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	710					apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CCGGGAGAACCTGGAGCAGGA	0.552																																					p.L710V		Atlas-SNP	.											.	MFN2	83	.	0			c.C2128G						.						87.0	87.0	87.0					1																	12069707		2203	4300	6503	SO:0001583	missense	9927	exon18			GAGAACCTGGAGC	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.2128C>G	chr1.hg19:g.12069707C>G	ENSP00000235329:p.Leu710Val	182.0	0.0		95.0	13.0	NM_014874	A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Missense_Mutation	SNP	ENST00000235329.5	hg19	CCDS30587.1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.720056	0.68844	.	.	ENSG00000116688	ENST00000444836;ENST00000235329	D;D	0.98028	-4.67;-4.67	5.28	3.29	0.37713	Fzo/mitofusin HR2 domain (1);	0.000000	0.64402	D	0.000002	D	0.98532	0.9510	M	0.86805	2.84	0.54753	D	0.999983	D	0.76494	0.999	D	0.75484	0.986	D	0.98698	1.0699	10	0.56958	D	0.05	-18.7584	11.4724	0.50278	0.0:0.8368:0.0:0.1632	.	710	O95140	MFN2_HUMAN	V	710	ENSP00000416338:L710V;ENSP00000235329:L710V	ENSP00000235329:L710V	L	+	1	2	MFN2	11992294	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.655000	0.54460	1.466000	0.48025	0.655000	0.94253	CTG	.	.		0.552	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874	
PLA2G2F	64600	hgsc.bcm.edu	37	1	20474797	20474797	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:20474797A>G	ENST00000375102.3	+	5	641	c.539A>G	c.(538-540)tAc>tGc	p.Y180C		NM_022819.3	NP_073730.3	Q9BZM2	PA2GF_HUMAN	phospholipase A2, group IIF	137					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTCAATGTCTACTGCCAGGGC	0.592																																					p.Y180C		Atlas-SNP	.											.	PLA2G2F	28	.	0			c.A539G						.						159.0	133.0	142.0					1																	20474797		2203	4300	6503	SO:0001583	missense	64600	exon5			ATGTCTACTGCCA	AL158172	CCDS204.2	1p35	2008-09-19			ENSG00000158786	ENSG00000158786	3.1.1.4		30040	protein-coding gene	gene with protein product						11112443	Standard	NM_022819		Approved		uc009vpp.1	Q9BZM2	OTTHUMG00000002704	ENST00000375102.3:c.539A>G	chr1.hg19:g.20474797A>G	ENSP00000364243:p.Tyr180Cys	318.0	0.0		119.0	40.0	NM_022819	Q5R385|Q8N217|Q9H506	Missense_Mutation	SNP	ENST00000375102.3	hg19	CCDS204.2	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640221	0.29157	.	.	ENSG00000158786	ENST00000375102	D	0.82619	-1.63	5.19	2.71	0.32032	.	0.139574	0.33075	N	0.005320	D	0.85570	0.5727	M	0.64260	1.97	0.32874	D	0.509673	D	0.76494	0.999	P	0.60236	0.871	D	0.86411	0.1748	10	0.51188	T	0.08	-43.461	7.8437	0.29414	0.6695:0.0:0.0:0.3305	.	180	Q9BZM2-2	.	C	180	ENSP00000364243:Y180C	ENSP00000364243:Y180C	Y	+	2	0	PLA2G2F	20347384	1.000000	0.71417	0.997000	0.53966	0.024000	0.10985	1.478000	0.35442	0.802000	0.34089	-0.490000	0.04691	TAC	.	.		0.592	PLA2G2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007687.1	NM_022819	
ZMYM4	9202	hgsc.bcm.edu	37	1	35857909	35857909	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:35857909C>A	ENST00000314607.6	+	16	2764	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D	ZMYM4_ENST00000373297.2_Missense_Mutation_p.A806D	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	895					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTGGCAAGTGCCCCTGCTGCT	0.443																																					p.A895D		Atlas-SNP	.											.	ZMYM4	143	.	0			c.C2684A						.						80.0	73.0	75.0					1																	35857909		2203	4300	6503	SO:0001583	missense	9202	exon16			CAAGTGCCCCTGC	AB007885	CCDS389.1	1p34-p32	2013-01-08	2005-12-19	2005-12-19	ENSG00000146463	ENSG00000146463		"""Zinc fingers, MYM type"""	13055	protein-coding gene	gene with protein product		613568	"""zinc finger protein 262"""	ZNF262		10449923	Standard	NM_005095		Approved	KIAA0425, ZNF198L3, MYM	uc001byt.3	Q5VZL5	OTTHUMG00000004241	ENST00000314607.6:c.2684C>A	chr1.hg19:g.35857909C>A	ENSP00000322915:p.Ala895Asp	225.0	0.0		226.0	95.0	NM_005095	A0JP19|A0JP20|O43308|Q5T5E1|Q5T5E2|Q7L3Q4	Missense_Mutation	SNP	ENST00000314607.6	hg19	CCDS389.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.97|16.97	3.268431|3.268431	0.59540|0.59540	.|.	.|.	ENSG00000146463|ENSG00000146463	ENST00000314607;ENST00000373297|ENST00000457946	T;T|.	0.24151|.	1.87;1.88|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.278200|.	0.36409|.	N|.	0.002615|.	T|.	0.59059|.	0.2166|.	L|L	0.34521|0.34521	1.04|1.04	0.47374|0.47374	D|D	0.9994|0.9994	B|.	0.27380|.	0.177|.	B|.	0.31016|.	0.123|.	T|.	0.55451|.	-0.8139|.	10|.	0.52906|.	T|.	0.07|.	-1.1659|-1.1659	18.194|18.194	0.89815|0.89815	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	895|.	Q5VZL5|.	ZMYM4_HUMAN|.	D|X	895;806|554	ENSP00000322915:A895D;ENSP00000362394:A806D|.	ENSP00000322915:A895D|.	A|C	+|+	2|3	0|2	ZMYM4|ZMYM4	35630496|35630496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	4.740000|4.740000	0.62087|0.62087	2.362000|2.362000	0.80069|0.80069	0.591000|0.591000	0.81541|0.81541	GCC|TGC	.	.		0.443	ZMYM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012207.3	NM_005095	
GJA9	81025	hgsc.bcm.edu	37	1	39340262	39340262	+	Silent	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:39340262A>G	ENST00000360786.3	-	1	1761	c.1509T>C	c.(1507-1509)aaT>aaC	p.N503N	MYCBP_ENST00000489803.1_5'UTR|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000454994.2_Intron|MYCBP_ENST00000397572.2_5'Flank|GJA9_ENST00000357771.3_Silent_p.N503N|RP5-864K19.4_ENST00000456813.1_RNA|RP5-864K19.4_ENST00000433671.2_RNA			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	503					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TACCAATGAGATTGTTCGTTA	0.463																																					p.N503N		Atlas-SNP	.											.	GJA9	55	.	0			c.T1509C						.						83.0	83.0	83.0					1																	39340262		2203	4300	6503	SO:0001819	synonymous_variant	81025	exon2			AATGAGATTGTTC	AF179597	CCDS432.1	1p34	2008-02-05	2007-11-06	2007-11-06	ENSG00000131233	ENSG00000131233		"""Ion channels / Gap junction proteins (connexins)"""	19155	protein-coding gene	gene with protein product	"""connexin 59"""	611923	"""gap junction protein, alpha 10, 59kDa"""	GJA10			Standard	NM_030772		Approved	CX59, CX58	uc021olr.1	P57773	OTTHUMG00000000482	ENST00000360786.3:c.1509T>C	chr1.hg19:g.39340262A>G		133.0	0.0		142.0	62.0	NM_030772	B2R722|B3KVQ2|Q5TA63|Q96KG0	Silent	SNP	ENST00000360786.3	hg19	CCDS432.1																																																																																			.	.		0.463	GJA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001205.1	NM_030772	
C1orf87	127795	hgsc.bcm.edu	37	1	60505838	60505838	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:60505838G>T	ENST00000371201.3	-	5	605	c.498C>A	c.(496-498)agC>agA	p.S166R	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	166							calcium ion binding (GO:0005509)			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCCCACTTGGGCTCTGGCCAA	0.453																																					p.S166R	NSCLC(75;811 1386 4923 13371 51772)	Atlas-SNP	.											.	C1orf87	55	.	0			c.C498A						.						70.0	76.0	74.0					1																	60505838		2203	4300	6503	SO:0001583	missense	127795	exon5			ACTTGGGCTCTGG	AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.498C>A	chr1.hg19:g.60505838G>T	ENSP00000360244:p.Ser166Arg	56.0	0.0		87.0	44.0	NM_152377	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	hg19	CCDS614.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.606602	0.00121	.	.	ENSG00000162598	ENST00000371201	T	0.15372	2.43	5.18	-3.85	0.04243	.	0.431851	0.22152	N	0.063912	T	0.01976	0.0062	N	0.00268	-1.735	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	10	0.02654	T	1	0.2181	1.9018	0.03269	0.1132:0.1984:0.3088:0.3796	.	166	Q8N0U7	CA087_HUMAN	R	166	ENSP00000360244:S166R	ENSP00000360244:S166R	S	-	3	2	C1orf87	60278426	0.030000	0.19436	0.003000	0.11579	0.006000	0.05464	-0.985000	0.03751	-0.514000	0.06488	-0.139000	0.14373	AGC	.	.		0.453	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
INADL	10207	hgsc.bcm.edu	37	1	62267337	62267337	+	Missense_Mutation	SNP	C	C	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:62267337C>G	ENST00000371158.2	+	12	1559	c.1445C>G	c.(1444-1446)aCt>aGt	p.T482S	INADL_ENST00000316485.6_Missense_Mutation_p.T482S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	482					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTCTTTCTAACTGGAGCAGTG	0.294																																					p.T482S		Atlas-SNP	.											.	INADL	179	.	0			c.C1445G						.						51.0	53.0	52.0					1																	62267337		2203	4300	6503	SO:0001583	missense	10207	exon12			TTCTAACTGGAGC	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1445C>G	chr1.hg19:g.62267337C>G	ENSP00000360200:p.Thr482Ser	194.0	0.0		261.0	47.0	NM_176877	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	hg19	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	2.718	-0.267140	0.05754	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.86;2.71	5.11	2.08	0.27032	.	0.655234	0.14864	N	0.293914	T	0.13884	0.0336	M	0.63428	1.95	0.35073	D	0.762682	B;B;B	0.13594	0.007;0.008;0.002	B;B;B	0.17722	0.019;0.006;0.008	T	0.21075	-1.0256	10	0.10111	T	0.7	.	11.0245	0.47736	0.0:0.5712:0.361:0.0677	.	482;482;482	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	S	482	ENSP00000360200:T482S;ENSP00000326199:T482S	ENSP00000255202:T482S	T	+	2	0	INADL	62039925	0.041000	0.20044	0.067000	0.19924	0.694000	0.40290	0.768000	0.26590	0.275000	0.22094	0.650000	0.86243	ACT	.	.		0.294	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605	
CACHD1	57685	hgsc.bcm.edu	37	1	65139104	65139104	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:65139104A>G	ENST00000371073.2	+	19	2684	c.2684A>G	c.(2683-2685)gAc>gGc	p.D895G	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.D844G			Q5VU97	CAHD1_HUMAN	cache domain containing 1	895					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGCTTCAGTGACAGAACGGTC	0.433																																					p.D844G		Atlas-SNP	.											.	CACHD1	125	.	0			c.A2531G						.						136.0	135.0	135.0					1																	65139104		2203	4300	6503	SO:0001583	missense	57685	exon19			TCAGTGACAGAAC	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.2684A>G	chr1.hg19:g.65139104A>G	ENSP00000360113:p.Asp895Gly	166.0	0.0		169.0	18.0	NM_020925	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	ENST00000371073.2	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.257173	0.80246	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.25749	1.78;1.79	5.14	5.14	0.70334	.	0.042716	0.85682	D	0.000000	T	0.35248	0.0925	L	0.55481	1.735	0.80722	D	1	D	0.63880	0.993	D	0.68192	0.956	T	0.12192	-1.0557	10	0.52906	T	0.07	-32.509	14.955	0.71107	1.0:0.0:0.0:0.0	.	895	Q5VU97	CAHD1_HUMAN	G	895;844	ENSP00000360113:D895G;ENSP00000290039:D844G	ENSP00000290039:D844G	D	+	2	0	CACHD1	64911692	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.710000	0.91388	1.924000	0.55735	0.482000	0.46254	GAC	.	.		0.433	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925	
SETDB1	9869	hgsc.bcm.edu	37	1	150900277	150900277	+	Silent	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:150900277G>A	ENST00000271640.5	+	2	277	c.87G>A	c.(85-87)gtG>gtA	p.V29V	SETDB1_ENST00000368963.1_Silent_p.V29V|SETDB1_ENST00000368962.2_Silent_p.V29V|SETDB1_ENST00000459773.1_3'UTR|SETDB1_ENST00000368969.4_Silent_p.V29V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	29					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			AACAGGCAGTGGTTGAGGAAC	0.498																																					p.V29V		Atlas-SNP	.											.	SETDB1	204	.	0			c.G87A						.						163.0	155.0	158.0					1																	150900277		2203	4300	6503	SO:0001819	synonymous_variant	9869	exon2			GGCAGTGGTTGAG	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.87G>A	chr1.hg19:g.150900277G>A		322.0	0.0		378.0	32.0	NM_012432	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	hg19	CCDS44217.1																																																																																			.	.		0.498	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2		
COLGALT2	23127	hgsc.bcm.edu	37	1	183942845	183942845	+	Missense_Mutation	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:183942845G>A	ENST00000361927.4	-	4	903	c.532C>T	c.(532-534)Ctc>Ttc	p.L178F	COLGALT2_ENST00000546159.1_Missense_Mutation_p.L178F	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	178					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										AGTAGATTGAGGGTCTGTGGA	0.413																																					p.L178F		Atlas-SNP	.											.	.	.	.	0			c.C532T						.						111.0	121.0	117.0					1																	183942845		2203	4300	6503	SO:0001583	missense	23127	exon4			GATTGAGGGTCTG	AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.532C>T	chr1.hg19:g.183942845G>A	ENSP00000354960:p.Leu178Phe	69.0	0.0		79.0	7.0	NM_015101	O60327|Q9BZR0	Missense_Mutation	SNP	ENST00000361927.4	hg19	CCDS1360.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143433	0.77888	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	T;T	0.70399	-0.48;-0.48	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	D	0.83275	0.5219	M	0.88979	2.995	0.80722	D	1	P;P	0.51449	0.9;0.945	P;P	0.57502	0.73;0.822	D	0.86081	0.1544	10	0.72032	D	0.01	.	12.5454	0.56197	0.076:0.0:0.924:0.0	.	178;178	F5H3T5;Q8IYK4	.;GT252_HUMAN	F	178	ENSP00000439112:L178F;ENSP00000354960:L178F	ENSP00000354960:L178F	L	-	1	0	GLT25D2	182209468	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.705000	0.84606	2.535000	0.85469	0.585000	0.79938	CTC	.	.		0.413	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086128.1	NM_015101	
CR1	1378	hgsc.bcm.edu	37	1	207791472	207791472	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:207791472C>A	ENST00000367049.4	+	42	6946	c.6946C>A	c.(6946-6948)Cta>Ata	p.L2316I	CR1_ENST00000400960.2_Missense_Mutation_p.L1866I|CR1_ENST00000367053.1_Missense_Mutation_p.L1866I|CR1_ENST00000367052.1_Missense_Mutation_p.L1866I|CR1_ENST00000367051.1_Missense_Mutation_p.L1866I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1866					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ACACGTATCTCTATATCTTCC	0.473																																					p.L2316I		Atlas-SNP	.											.	CR1	354	.	0			c.C6946A						.						163.0	156.0	158.0					1																	207791472		1978	4163	6141	SO:0001583	missense	1378	exon42			GTATCTCTATATC	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6946C>A	chr1.hg19:g.207791472C>A	ENSP00000356016:p.Leu2316Ile	293.0	0.0		212.0	87.0	NM_000651	Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	hg19	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	10.53	1.376066	0.24857	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	4.19	0.355	0.16069	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.51991	0.1707	N	0.17838	0.53	0.09310	N	1	P;P	0.52842	0.555;0.956	B;P	0.53401	0.353;0.725	T	0.41998	-0.9477	9	0.30854	T	0.27	.	6.4999	0.22164	0.0:0.5995:0.0:0.4005	.	1866;2316	P17927;E9PDY4	CR1_HUMAN;.	I	1866;1866;1866;1866;2316	ENSP00000356019:L1866I;ENSP00000356018:L1866I;ENSP00000356020:L1866I;ENSP00000383744:L1866I;ENSP00000356016:L2316I	ENSP00000356016:L2316I	L	+	1	2	CR1	205858095	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	0.366000	0.20365	0.076000	0.16826	0.563000	0.77884	CTA	.	.		0.473	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573	
PRADC1	84279	hgsc.bcm.edu	37	2	73456048	73456048	+	Silent	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:73456048G>A	ENST00000258083.2	-	4	388	c.321C>T	c.(319-321)caC>caT	p.H107H	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	107	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						CCCGCCCGCCGTGCTCCTGGA	0.592																																					p.H107H		Atlas-SNP	.											.	PRADC1	15	.	0			c.C321T						.						30.0	29.0	29.0					2																	73456048		2203	4300	6503	SO:0001819	synonymous_variant	84279	exon4			CCCGCCGTGCTCC	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.321C>T	chr2.hg19:g.73456048G>A		120.0	0.0		28.0	10.0	NM_032319	Q2Z1P2	Silent	SNP	ENST00000258083.2	hg19	CCDS1924.1																																																																																			.	.		0.592	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251989.1	NM_032319	
LRP1B	53353	hgsc.bcm.edu	37	2	141055500	141055500	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:141055500G>T	ENST00000389484.3	-	84	13815	c.12844C>A	c.(12844-12846)Cca>Aca	p.P4282T		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4282	EGF-like 18. {ECO:0000255|PROSITE- ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAGTTTGGCCCAGTGAAA	0.433										TSP Lung(27;0.18)																											p.P4282T	Colon(99;50 2074 2507 20106)	Atlas-SNP	.											.	LRP1B	1315	.	0			c.C12844A						.						115.0	120.0	118.0					2																	141055500		2203	4300	6503	SO:0001583	missense	53353	exon84			AGTTTGGCCCAGT	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12844C>A	chr2.hg19:g.141055500G>T	ENSP00000374135:p.Pro4282Thr	361.0	0.0		257.0	24.0	NM_018557	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	hg19	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.172511	0.78452	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92647	-3.08	6.08	6.08	0.98989	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.071752	0.64402	D	0.000018	D	0.91928	0.7444	N	0.17764	0.52	0.47698	D	0.999494	D	0.62365	0.991	P	0.62089	0.898	D	0.88418	0.3026	10	0.15499	T	0.54	.	20.6634	0.99662	0.0:0.0:1.0:0.0	.	4282	Q9NZR2	LRP1B_HUMAN	T	4282;4220	ENSP00000374135:P4282T	ENSP00000374135:P4282T	P	-	1	0	LRP1B	140771970	1.000000	0.71417	0.988000	0.46212	0.741000	0.42261	6.548000	0.73896	2.894000	0.99253	0.655000	0.94253	CCA	.	.		0.433	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
TBR1	10716	hgsc.bcm.edu	37	2	162276744	162276744	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:162276744A>T	ENST00000389554.3	+	5	1483	c.1166A>T	c.(1165-1167)aAa>aTa	p.K389I	TBR1_ENST00000410035.1_Missense_Mutation_p.K102I|AC009487.4_ENST00000444164.1_RNA|TBR1_ENST00000489530.1_3'UTR|AC009487.4_ENST00000437683.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	389					axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCTTTTGCAAAAGGATTTCGG	0.338																																					p.K389I		Atlas-SNP	.											.	TBR1	59	.	0			c.A1166T						.						120.0	119.0	120.0					2																	162276744		2203	4300	6503	SO:0001583	missense	10716	exon5			TTGCAAAAGGATT	U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888	ENST00000389554.3:c.1166A>T	chr2.hg19:g.162276744A>T	ENSP00000374205:p.Lys389Ile	130.0	0.0		127.0	70.0	NM_006593	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	ENST00000389554.3	hg19	CCDS33310.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.386862	0.82902	.	.	ENSG00000136535	ENST00000389554;ENST00000539334;ENST00000411412;ENST00000410035	D;D;D	0.83837	-1.77;-1.77;-1.77	5.25	5.25	0.73442	p53-like transcription factor, DNA-binding (1);	0.106321	0.64402	D	0.000005	D	0.94522	0.8236	H	0.98256	4.185	0.80722	D	1	D	0.57571	0.98	D	0.78314	0.991	D	0.96502	0.9372	10	0.87932	D	0	.	15.4594	0.75342	1.0:0.0:0.0:0.0	.	389	Q16650	TBR1_HUMAN	I	389;102;124;102	ENSP00000374205:K389I;ENSP00000393934:K124I;ENSP00000387023:K102I	ENSP00000374205:K389I	K	+	2	0	TBR1	161984990	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.243000	0.95416	2.119000	0.64992	0.533000	0.62120	AAA	.	.		0.338	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332845.1	NM_006593	
SLC4A10	57282	hgsc.bcm.edu	37	2	162807235	162807235	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:162807235A>T	ENST00000446997.1	+	19	2511	c.2418A>T	c.(2416-2418)ttA>ttT	p.L806F	SLC4A10_ENST00000272716.5_Missense_Mutation_p.L776F|SLC4A10_ENST00000375514.5_Missense_Mutation_p.L787F|SLC4A10_ENST00000421911.1_Missense_Mutation_p.L806F|SLC4A10_ENST00000415876.2_Missense_Mutation_p.L776F	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	806					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	TTACGCCTTTAGGTCCAAACC	0.378																																					p.L806F		Atlas-SNP	.											.	SLC4A10	309	.	0			c.A2418T						.						98.0	90.0	93.0					2																	162807235		1851	4088	5939	SO:0001583	missense	57282	exon19			GCCTTTAGGTCCA		CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.2418A>T	chr2.hg19:g.162807235A>T	ENSP00000393066:p.Leu806Phe	160.0	0.0		167.0	32.0	NM_001178015	B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	ENST00000446997.1	hg19	CCDS54411.1	.	.	.	.	.	.	.	.	.	.	A	4.771	0.143285	0.09083	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	D;D;D;D;D	0.81579	-1.51;-1.51;-1.51;-1.51;-1.51	5.83	0.663	0.17885	Bicarbonate transporter, C-terminal (1);	0.146510	0.47852	N	0.000206	T	0.74884	0.3775	L	0.31664	0.95	0.48288	D	0.99962	P;P;B	0.42973	0.796;0.796;0.01	P;P;B	0.57720	0.826;0.826;0.028	T	0.69577	-0.5108	10	0.02654	T	1	.	8.4372	0.32795	0.5221:0.0:0.4779:0.0	.	787;776;806	F8W675;Q6U841-2;Q6U841	.;.;S4A10_HUMAN	F	787;776;776;775;806;806;805	ENSP00000364664:L787F;ENSP00000395797:L776F;ENSP00000272716:L776F;ENSP00000393066:L806F;ENSP00000404486:L806F	ENSP00000272716:L776F	L	+	3	2	SLC4A10	162515481	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.257000	0.43240	0.115000	0.18071	0.477000	0.44152	TTA	.	.		0.378	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333090.1	NM_022058	
SCN2A	6326	hgsc.bcm.edu	37	2	166223741	166223741	+	Missense_Mutation	SNP	T	T	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:166223741T>C	ENST00000375437.2	+	19	3825	c.3535T>C	c.(3535-3537)Ttc>Ctc	p.F1179L	SCN2A_ENST00000283256.6_Missense_Mutation_p.F1179L|SCN2A_ENST00000357398.3_Missense_Mutation_p.F1179L|SCN2A_ENST00000375427.2_Missense_Mutation_p.F1179L	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1179					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGTACGGAAGTTCAAGTGTTG	0.348																																					p.F1179L		Atlas-SNP	.											.	SCN2A	589	.	0			c.T3535C						.						123.0	119.0	120.0					2																	166223741		2203	4300	6503	SO:0001583	missense	6326	exon18			CGGAAGTTCAAGT	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.3535T>C	chr2.hg19:g.166223741T>C	ENSP00000364586:p.Phe1179Leu	119.0	0.0		84.0	4.0	NM_001040143	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	hg19	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.709472	0.89018	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.86297	-2.1;-2.1;-2.1;-2.1	6.07	6.07	0.98685	Sodium ion transport-associated (1);	0.075804	0.56097	D	0.000023	D	0.93785	0.8013	M	0.92923	3.36	0.53688	D	0.999975	P;P	0.52463	0.953;0.886	P;P	0.54759	0.76;0.758	D	0.94882	0.8040	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1179;1179	Q99250-2;Q99250	.;SCN2A_HUMAN	L	1179	ENSP00000364586:F1179L;ENSP00000349973:F1179L;ENSP00000283256:F1179L;ENSP00000364576:F1179L	ENSP00000283256:F1179L	F	+	1	0	SCN2A	165931987	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.217000	0.72218	2.326000	0.78906	0.533000	0.62120	TTC	.	.		0.348	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007	
XIRP2	129446	hgsc.bcm.edu	37	2	168105466	168105466	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:168105466C>A	ENST00000409195.1	+	9	7653	c.7564C>A	c.(7564-7566)Cat>Aat	p.H2522N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2300N|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2522N|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2347				H -> P (in Ref. 8; CAD91146). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.H2522Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAAAATCTCATTCATTTCC	0.343																																					p.H2522N		Atlas-SNP	.											XIRP2,NS,carcinoma,0,1	XIRP2	914	.	1	Substitution - Missense(1)	cervix(1)	c.C7564A						.						95.0	91.0	92.0					2																	168105466		1816	4067	5883	SO:0001583	missense	129446	exon9			AAATCTCATTCAT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7564C>A	chr2.hg19:g.168105466C>A	ENSP00000386840:p.His2522Asn	95.0	0.0		93.0	49.0	NM_152381	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	hg19	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	18.68	3.676351	0.67928	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02631	4.22;4.22;4.22	5.97	5.09	0.68999	.	0.111234	0.64402	N	0.000012	T	0.05090	0.0136	M	0.67953	2.075	0.32606	N	0.525195	B;P;P	0.36412	0.417;0.552;0.552	B;B;B	0.33042	0.075;0.157;0.157	T	0.10941	-1.0608	10	0.27785	T	0.31	-11.6991	15.5358	0.76001	0.1394:0.8606:0.0:0.0	.	2347;2347;2300	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	N	2522;2522;2300	ENSP00000386840:H2522N;ENSP00000295237:H2522N;ENSP00000387255:H2300N	ENSP00000295237:H2522N	H	+	1	0	XIRP2	167813712	0.975000	0.34042	0.988000	0.46212	0.971000	0.66376	2.557000	0.45871	1.512000	0.48834	0.655000	0.94253	CAT	.	.		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381	
TTN	7273	hgsc.bcm.edu	37	2	179404631	179404631	+	Missense_Mutation	SNP	C	C	T	rs533651182		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:179404631C>T	ENST00000591111.1	-	302	93462	c.93238G>A	c.(93238-93240)Gtc>Atc	p.V31080I	TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23848I|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V32721I|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V30153I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V23781I|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V23656I|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585358.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31080	Ig-like 139.				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)	p.V23656I(2)|p.V30153I(1)|p.V30151I(1)|p.V23848I(1)|p.V23781I(1)		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)			AGTCTGATGACGCCACCTTGC	0.398													C|||	1	0.000199681	0.0	0.0	5008	,	,		24212	0.001		0.0	False		,,,				2504	0.0				p.V32721I		Atlas-SNP	.											TTN_ENST00000359218,NS,carcinoma,0,4	TTN	18412	.	6	Substitution - Missense(6)	prostate(6)	c.G98161A						.						133.0	123.0	126.0					2																	179404631		1946	4154	6100	SO:0001583	missense	7273	exon352			TGATGACGCCACC	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.93238G>A	chr2.hg19:g.179404631C>T	ENSP00000465570:p.Val31080Ile	172.0	0.0		127.0	55.0	NM_001267550	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	hg19		.	.	.	.	.	.	.	.	.	.	C	17.74	3.464891	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.41065	1.01;1.01;1.01;1.01	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53238	0.1784	L	0.50333	1.59	0.49130	D	0.999752	D;D;D;D	0.55800	0.973;0.973;0.973;0.973	P;P;P;P	0.51101	0.586;0.586;0.586;0.659	T	0.51593	-0.8686	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	23656;23781;23848;31080	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	30153;23656;23848;23781;23653	ENSP00000343764:V30153I;ENSP00000434586:V23656I;ENSP00000340554:V23848I;ENSP00000352154:V23781I	ENSP00000340554:V23848I	V	-	1	0	TTN	179112877	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.026000	0.70873	2.941000	0.99782	0.655000	0.94253	GTC	.	.		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179596523	179596523	+	Silent	SNP	G	G	A	rs372588069		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:179596523G>A	ENST00000591111.1	-	56	16352	c.16128C>T	c.(16126-16128)agC>agT	p.S5376S	TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.S5693S|TTN_ENST00000342992.6_Silent_p.S4449S|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	12195	Ig-like 34.				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)			GGATCTGCAGGCTAACCAGAT	0.488																																					p.S5693S		Atlas-SNP	.											.	TTN	18412	.	0			c.C17079T						.						125.0	125.0	125.0					2																	179596523		1966	4160	6126	SO:0001819	synonymous_variant	7273	exon58			CTGCAGGCTAACC	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.16128C>T	chr2.hg19:g.179596523G>A		134.0	0.0		111.0	24.0	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																																																																																				.	.		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
CCDC141	285025	hgsc.bcm.edu	37	2	179718305	179718305	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:179718305C>T	ENST00000420890.2	-	20	3224	c.3107G>A	c.(3106-3108)gGa>gAa	p.G1036E	CCDC141_ENST00000295723.5_Missense_Mutation_p.G461E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	1036										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GGAATATTTTCCAACTCTTAC	0.388																																					p.G1036E		Atlas-SNP	.											CCDC141_ENST00000420890,mucosal,malignant_melanoma,0,4	CCDC141	362	.	0			c.G3107A						.						111.0	111.0	111.0					2																	179718305		2203	4300	6503	SO:0001583	missense	285025	exon20			TATTTTCCAACTC	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.3107G>A	chr2.hg19:g.179718305C>T	ENSP00000395995:p.Gly1036Glu	50.0	0.0		57.0	12.0	NM_173648	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	hg19		.	.	.	.	.	.	.	.	.	.	C	17.39	3.377901	0.61735	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723	T;T;T	0.31247	1.5;1.5;1.5	5.85	5.85	0.93711	.	0.000000	0.51477	D	0.000090	T	0.29976	0.0750	L	0.34521	1.04	0.37079	D	0.898886	P	0.49358	0.923	P	0.47470	0.548	T	0.06972	-1.0797	10	0.22109	T	0.4	-12.8104	14.34	0.66619	0.0:0.9295:0.0:0.0704	.	461	Q6ZP82	CC141_HUMAN	E	1036;480;461	ENSP00000395995:G1036E;ENSP00000344627:G480E;ENSP00000295723:G461E	ENSP00000295723:G461E	G	-	2	0	CCDC141	179426550	0.998000	0.40836	0.998000	0.56505	0.960000	0.62799	3.951000	0.56684	2.768000	0.95171	0.655000	0.94253	GGA	.	.		0.388	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648	
SGOL2	151246	hgsc.bcm.edu	37	2	201437093	201437093	+	Missense_Mutation	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:201437093G>A	ENST00000357799.4	+	7	2122	c.2024G>A	c.(2023-2025)aGa>aAa	p.R675K		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	675					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)		p.R675T(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CTTTCTACTAGAGATAATGAA	0.348																																					p.R675K		Atlas-SNP	.											SGOL2,NS,carcinoma,0,1	SGOL2	126	.	1	Substitution - Missense(1)	breast(1)	c.G2024A						.						59.0	55.0	56.0					2																	201437093		1818	4071	5889	SO:0001583	missense	151246	exon7			CTACTAGAGATAA	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2024G>A	chr2.hg19:g.201437093G>A	ENSP00000350447:p.Arg675Lys	181.0	1.0		162.0	16.0	NM_001160046	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	hg19	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.353050	0.00217	.	.	ENSG00000163535	ENST00000357799	T	0.12672	2.66	5.25	0.149	0.14863	.	1.035800	0.07584	N	0.920789	T	0.04452	0.0122	N	0.04090	-0.28	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.40251	-0.9573	10	0.02654	T	1	3.6971	3.3255	0.07066	0.2599:0.0:0.3698:0.3703	.	675;675;675	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	K	675	ENSP00000350447:R675K	ENSP00000350447:R675K	R	+	2	0	SGOL2	201145338	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.340000	0.02650	0.099000	0.17552	0.585000	0.79938	AGA	.	.		0.348	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	NM_152524	
DYTN	391475	hgsc.bcm.edu	37	2	207527925	207527925	+	Silent	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:207527925A>G	ENST00000452335.2	-	11	1451	c.1335T>C	c.(1333-1335)aaT>aaC	p.N445N		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	445						plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CATGCTCTGCATTTGTGTGAC	0.463																																					p.N445N		Atlas-SNP	.											.	DYTN	168	.	0			c.T1335C						.						171.0	162.0	165.0					2																	207527925		2017	4191	6208	SO:0001819	synonymous_variant	391475	exon11			CTCTGCATTTGTG	ABF55377	CCDS46502.1	2q33.3	2007-01-22			ENSG00000232125	ENSG00000232125			23279	protein-coding gene	gene with protein product						17233888	Standard	NM_001093730		Approved		uc002vbr.1	A2CJ06	OTTHUMG00000154729	ENST00000452335.2:c.1335T>C	chr2.hg19:g.207527925A>G		229.0	0.0		165.0	44.0	NM_001093730		Silent	SNP	ENST00000452335.2	hg19	CCDS46502.1																																																																																			.	.		0.463	DYTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336799.1		
SPAG16	79582	hgsc.bcm.edu	37	2	214727353	214727353	+	Splice_Site	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:214727353G>T	ENST00000331683.5	+	11	1309		c.e11+1		SPAG16_ENST00000374309.3_Splice_Site	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16						cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCCATCCCAGGTCAGTGCACA	0.493																																					.		Atlas-SNP	.											.	SPAG16	134	.	0			c.1214+1G>T						.						91.0	76.0	81.0					2																	214727353		2203	4300	6503	SO:0001630	splice_region_variant	79582	exon11			TCCCAGGTCAGTG	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1214+1G>T	chr2.hg19:g.214727353G>T		160.0	0.0		85.0	11.0	NM_024532	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Splice_Site	SNP	ENST00000331683.5	hg19	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986830	0.74589	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7858	0.88538	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPAG16	214435598	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	6.713000	0.74686	2.707000	0.92482	0.643000	0.83706	.	.	.		0.493	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	Intron
CYP27A1	1593	hgsc.bcm.edu	37	2	219679131	219679131	+	Missense_Mutation	SNP	C	C	T	rs573951598		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr2:219679131C>T	ENST00000258415.4	+	7	1640	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	405			R -> Q (in CTX). {ECO:0000269|PubMed:9186905}.		bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CACAAACTCCCGGATCATAGA	0.547													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19544	0.0		0.0	False		,,,				2504	0.0				p.R405W		Atlas-SNP	.											.	CYP27A1	52	.	0			c.C1213T	GRCh37	CM004249	CYP27A1	M		.						112.0	116.0	115.0					2																	219679131		2203	4300	6503	SO:0001583	missense	1593	exon7			AACTCCCGGATCA	BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.1213C>T	chr2.hg19:g.219679131C>T	ENSP00000258415:p.Arg405Trp	137.0	0.0		84.0	11.0	NM_000784	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	hg19	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.877821	0.72294	.	.	ENSG00000135929	ENST00000258415	T	0.81078	-1.45	5.75	3.72	0.42706	.	0.000000	0.85682	D	0.000000	D	0.91955	0.7452	H	0.95611	3.695	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.93639	0.6963	10	0.87932	D	0	-32.2986	12.5615	0.56283	0.3668:0.6332:0.0:0.0	.	405	Q02318	CP27A_HUMAN	W	405	ENSP00000258415:R405W	ENSP00000258415:R405W	R	+	1	2	CYP27A1	219387375	0.440000	0.25618	0.948000	0.38648	0.810000	0.45777	1.129000	0.31381	1.372000	0.46190	0.561000	0.74099	CGG	.	.		0.547	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
ERC2	26059	hgsc.bcm.edu	37	3	56183107	56183107	+	Silent	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:56183107G>A	ENST00000288221.6	-	5	1458	c.1203C>T	c.(1201-1203)atC>atT	p.I401I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	401						cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TTAACATCTGGATCTCATCCT	0.358																																					p.I401I		Atlas-SNP	.											.	ERC2	221	.	0			c.C1203T						.						130.0	124.0	126.0					3																	56183107		1872	4113	5985	SO:0001819	synonymous_variant	26059	exon5			CATCTGGATCTCA	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.1203C>T	chr3.hg19:g.56183107G>A		179.0	0.0		173.0	60.0	NM_015576	Q2T9F6|Q86TK4	Silent	SNP	ENST00000288221.6	hg19	CCDS46851.1	.	.	.	.	.	.	.	.	.	.	G	10.28	1.306145	0.23736	.	.	ENSG00000187672	ENST00000492584	.	.	.	5.82	4.95	0.65309	.	.	.	.	.	T	0.60728	0.2291	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59123	-0.7513	4	.	.	.	-9.2696	9.8606	0.41112	0.0735:0.0:0.7567:0.1699	.	.	.	.	F	40	.	.	S	-	2	0	ERC2	56158147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.893000	0.39758	1.462000	0.47948	0.650000	0.86243	TCC	.	.		0.358	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576	
LSAMP	4045	hgsc.bcm.edu	37	3	115805264	115805264	+	Missense_Mutation	SNP	G	G	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:115805264G>C	ENST00000490035.2	-	2	794	c.295C>G	c.(295-297)Cag>Gag	p.Q99E	LSAMP_ENST00000539563.1_Missense_Mutation_p.Q96E	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	99	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCCACCTTCTGGATTCGGAGG	0.498																																					p.Q99E		Atlas-SNP	.											.	LSAMP	62	.	0			c.C295G						.						109.0	100.0	103.0					3																	115805264		2203	4300	6503	SO:0001583	missense	4045	exon2			CCTTCTGGATTCG	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.295C>G	chr3.hg19:g.115805264G>C	ENSP00000419000:p.Gln99Glu	321.0	0.0		270.0	105.0	NM_002338	Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	hg19	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.663615	0.67700	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73156	0.3551	N	0.25286	0.73	0.54753	D	0.999986	D;B	0.53885	0.963;0.21	D;B	0.71414	0.973;0.173	T	0.71652	-0.4528	10	0.38643	T	0.18	-10.8766	20.0925	0.97824	0.0:0.0:1.0:0.0	.	99;99	B2RCU8;Q13449	.;LSAMP_HUMAN	E	83;99;96;133	ENSP00000328455:Q83E;ENSP00000419000:Q99E;ENSP00000443429:Q96E;ENSP00000418506:Q133E	ENSP00000328455:Q83E	Q	-	1	0	LSAMP	117287954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.839000	0.86812	2.751000	0.94390	0.555000	0.69702	CAG	.	.		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	
ADPRH	141	hgsc.bcm.edu	37	3	119306692	119306692	+	Silent	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:119306692C>A	ENST00000478399.1	+	4	2446	c.1041C>A	c.(1039-1041)ctC>ctA	p.L347L	ADPRH_ENST00000478927.1_Silent_p.L347L|ADPRH_ENST00000465513.1_Silent_p.L347L|ADPRH_ENST00000357003.3_Silent_p.L347L|ADPRH_ENST00000471850.1_3'UTR			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	347					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		TATATTCTCTCGGGTCAAAAG	0.403																																					p.L347L	GBM(133;579 1804 5989 9967 40052)	Atlas-SNP	.											.	ADPRH	33	.	0			c.C1041A						.						81.0	86.0	84.0					3																	119306692		2203	4300	6503	SO:0001819	synonymous_variant	141	exon5			TTCTCTCGGGTCA	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.1041C>A	chr3.hg19:g.119306692C>A		53.0	0.0		62.0	32.0	NM_001125	B2R8H1|D3DN83	Silent	SNP	ENST00000478399.1	hg19	CCDS2990.1																																																																																			.	.		0.403	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125	
AADACL2	344752	hgsc.bcm.edu	37	3	151475327	151475327	+	Missense_Mutation	SNP	G	G	A	rs373909154		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:151475327G>A	ENST00000356517.3	+	5	1260	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	384						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTTATTTACGTCTAGGTCTT	0.333													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19959	0.0		0.0	False		,,,				2504	0.0				p.R384H		Atlas-SNP	.											.	AADACL2	102	.	0			c.G1151A						.	G	HIS/ARG	0,4406		0,0,2203	81.0	84.0	83.0		1151	-3.5	0.0	3		83	1,8595	1.2+/-3.3	0,1,4297	no	missense	AADACL2	NM_207365.3	29	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	benign	384/402	151475327	1,13001	2203	4298	6501	SO:0001583	missense	344752	exon5			ATTTACGTCTAGG	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.1151G>A	chr3.hg19:g.151475327G>A	ENSP00000348911:p.Arg384His	144.0	0.0		148.0	16.0	NM_207365	Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	hg19	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	G	10.50	1.366462	0.24771	0.0	1.16E-4	ENSG00000197953	ENST00000356517	T	0.59638	0.25	5.15	-3.55	0.04639	.	1.518380	0.03127	N	0.164612	T	0.35595	0.0937	N	0.04018	-0.295	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30208	-0.9986	10	0.39692	T	0.17	-15.833	11.3473	0.49567	0.5341:0.0:0.4659:0.0	.	384	Q6P093	ADCL2_HUMAN	H	384	ENSP00000348911:R384H	ENSP00000348911:R384H	R	+	2	0	AADACL2	152958017	0.000000	0.05858	0.000000	0.03702	0.119000	0.20118	0.295000	0.19065	-0.385000	0.07833	-0.964000	0.02622	CGT	.	.		0.333	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365	
GHSR	2693	hgsc.bcm.edu	37	3	172162985	172162985	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:172162985G>T	ENST00000241256.2	-	2	1109	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y		NM_198407.2	NP_940799.1	Q92847	GHSR_HUMAN	growth hormone secretagogue receptor	356					actin polymerization or depolymerization (GO:0008154)|adult feeding behavior (GO:0008343)|cellular response to insulin stimulus (GO:0032869)|decidualization (GO:0046697)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone secretion (GO:0030252)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin secretion (GO:0046676)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of appetite (GO:0032100)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of hindgut contraction (GO:0043134)|regulation of synapse assembly (GO:0051963)|response to food (GO:0032094)|response to hormone (GO:0009725)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|growth hormone secretagogue receptor activity (GO:0001616)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCAGGCCCGAGAACTTTCATC	0.463																																					p.S356Y	Esophageal Squamous(93;641 1401 20883 29581 34638)	Atlas-SNP	.											.	GHSR	104	.	0			c.C1067A						.						91.0	103.0	98.0					3																	172162985		2203	4300	6503	SO:0001583	missense	2693	exon2			GCCCGAGAACTTT	AY429112	CCDS3218.1, CCDS46959.1	3q26.31	2012-08-08			ENSG00000121853	ENSG00000121853		"""GPCR / Class A : Ghrelin receptors"""	4267	protein-coding gene	gene with protein product		601898				8688086	Standard	NM_198407		Approved		uc003fib.2	Q92847	OTTHUMG00000156946	ENST00000241256.2:c.1067C>A	chr3.hg19:g.172162985G>T	ENSP00000241256:p.Ser356Tyr	93.0	0.0		193.0	31.0	NM_198407	Q14D12|Q6ISR8|Q92848|Q96RJ7	Missense_Mutation	SNP	ENST00000241256.2	hg19	CCDS3218.1	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777648	0.70107	.	.	ENSG00000121853	ENST00000241256	T	0.69175	-0.38	5.78	5.78	0.91487	.	0.113831	0.64402	D	0.000009	T	0.64583	0.2611	L	0.55481	1.735	0.80722	D	1	P	0.39920	0.695	B	0.36719	0.231	T	0.64080	-0.6491	10	0.36615	T	0.2	-11.1438	20.0039	0.97428	0.0:0.0:1.0:0.0	.	356	Q92847	GHSR_HUMAN	Y	356	ENSP00000241256:S356Y	ENSP00000241256:S356Y	S	-	2	0	GHSR	173645679	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.932000	0.63476	2.722000	0.93159	0.557000	0.71058	TCT	.	.		0.463	GHSR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346728.1	NM_004122	
DNAJC19	131118	hgsc.bcm.edu	37	3	180706002	180706002	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:180706002C>A	ENST00000382564.2	-	2	189	c.19G>T	c.(19-21)Gca>Tca	p.A7S	DNAJC19_ENST00000491873.1_Intron|DNAJC19_ENST00000479269.1_5'UTR|DNAJC19_ENST00000486355.1_Missense_Mutation_p.A7S	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	7					cellular protein metabolic process (GO:0044267)|genitalia development (GO:0048806)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AGTCCAACTGCTACCACTGTA	0.438																																					p.A7S		Atlas-SNP	.											.	DNAJC19	4	.	0			c.G19T						.						82.0	77.0	78.0					3																	180706002		2203	4300	6503	SO:0001583	missense	131118	exon2			CAACTGCTACCAC		CCDS33895.1, CCDS54684.1	3q26.33	2014-09-17			ENSG00000205981	ENSG00000205981		"""Heat shock proteins / DNAJ (HSP40)"""	30528	protein-coding gene	gene with protein product		608977				19564938	Standard	NM_145261		Approved	TIMM14, Tim14, Pam18	uc003fkt.3	Q96DA6	OTTHUMG00000158180	ENST00000382564.2:c.19G>T	chr3.hg19:g.180706002C>A	ENSP00000372005:p.Ala7Ser	250.0	0.0		217.0	24.0	NM_145261	B2R4B1|C9JBV1	Missense_Mutation	SNP	ENST00000382564.2	hg19	CCDS33895.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.816459	0.90790	.	.	ENSG00000205981	ENST00000382564	.	.	.	5.37	5.37	0.77165	.	0.095488	0.64402	D	0.000001	T	0.72914	0.3520	M	0.86953	2.85	0.80722	D	1	P	0.48694	0.914	P	0.46419	0.516	T	0.78687	-0.2107	9	0.59425	D	0.04	-23.9316	16.3905	0.83533	0.0:1.0:0.0:0.0	.	7	Q96DA6	TIM14_HUMAN	S	7	.	ENSP00000372005:A7S	A	-	1	0	DNAJC19	182188696	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.879000	0.69690	2.677000	0.91161	0.655000	0.94253	GCA	.	.		0.438	DNAJC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350336.1	NM_145261	
KLB	152831	hgsc.bcm.edu	37	4	39439384	39439384	+	Silent	SNP	T	T	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:39439384T>C	ENST00000257408.4	+	3	1471	c.1374T>C	c.(1372-1374)acT>acC	p.T458T		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	458	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TTGGTTATACTGCCTGGTCTC	0.408																																					p.T458T		Atlas-SNP	.											.	KLB	95	.	0			c.T1374C						.						212.0	199.0	203.0					4																	39439384		2203	4300	6503	SO:0001819	synonymous_variant	152831	exon3			TTATACTGCCTGG	AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.1374T>C	chr4.hg19:g.39439384T>C		155.0	0.0		123.0	11.0	NM_175737	Q2M3K8	Silent	SNP	ENST00000257408.4	hg19	CCDS3451.1																																																																																			.	.		0.408	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250429.1	NM_175737	
FIP1L1	81608	hgsc.bcm.edu	37	4	54256750	54256750	+	Missense_Mutation	SNP	G	G	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:54256750G>C	ENST00000337488.6	+	7	654	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	FIP1L1_ENST00000306932.6_Missense_Mutation_p.E139Q|FIP1L1_ENST00000507922.1_Missense_Mutation_p.E139Q|FIP1L1_ENST00000507166.1_Missense_Mutation_p.E154Q|FIP1L1_ENST00000358575.5_Missense_Mutation_p.E139Q	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	154	Necessary for stimulating PAPOLA activity.|Sufficient for interaction with CPSF4.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TCCACTCTTAGAGGTAGATTT	0.343			T	PDGFRA	idiopathic hypereosinophilic syndrome																																p.E154Q		Atlas-SNP	.		Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	.	FIP1L1	60	.	0			c.G460C						.						113.0	113.0	113.0					4																	54256750		2203	4300	6503	SO:0001583	missense	81608	exon7			CTCTTAGAGGTAG	AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.460G>C	chr4.hg19:g.54256750G>C	ENSP00000336752:p.Glu154Gln	57.0	0.0		61.0	11.0	NM_030917	B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Missense_Mutation	SNP	ENST00000337488.6	hg19	CCDS3491.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081579	0.76528	.	.	ENSG00000145216	ENST00000337488;ENST00000358575;ENST00000507922;ENST00000306932;ENST00000507166	T	0.78816	-1.21	5.43	5.43	0.79202	Pre-mRNA polyadenylation factor Fip1 (1);	0.000000	0.64402	D	0.000001	D	0.84915	0.5578	L	0.48174	1.505	0.80722	D	1	D;D;P;D	0.89917	1.0;0.989;0.879;1.0	D;D;P;D	0.79108	0.992;0.979;0.855;0.992	T	0.83208	-0.0075	10	0.36615	T	0.2	-15.4454	19.2217	0.93799	0.0:0.0:1.0:0.0	.	139;139;154;139	G3XAD6;Q6UN15-3;Q6UN15;Q6UN15-4	.;.;FIP1_HUMAN;.	Q	154;139;139;139;154	ENSP00000423325:E154Q	ENSP00000302993:E139Q	E	+	1	0	FIP1L1	53951507	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	9.429000	0.97481	2.534000	0.85438	0.591000	0.81541	GAG	.	.		0.343	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250602.1	NM_030917	
CENPE	1062	hgsc.bcm.edu	37	4	104065713	104065713	+	Silent	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:104065713C>T	ENST00000265148.3	-	33	5009	c.4920G>A	c.(4918-4920)caG>caA	p.Q1640Q	CENPE_ENST00000380026.3_Silent_p.Q1615Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1640					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACATTTTCTCCTGAGTCTCAT	0.343																																					p.Q1640Q		Atlas-SNP	.											.	CENPE	253	.	0			c.G4920A						.						92.0	89.0	90.0					4																	104065713		2203	4299	6502	SO:0001819	synonymous_variant	1062	exon33			TTTCTCCTGAGTC	Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4920G>A	chr4.hg19:g.104065713C>T		40.0	0.0		37.0	21.0	NM_001813	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	hg19	CCDS34042.1																																																																																			.	.		0.343	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
NDST4	64579	hgsc.bcm.edu	37	4	115754838	115754838	+	Missense_Mutation	SNP	C	C	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:115754838C>G	ENST00000264363.2	-	12	2998	c.2320G>C	c.(2320-2322)Gac>Cac	p.D774H		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	774	Heparan sulfate N-sulfotransferase 4.				heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTAGCTGGGTCAGATCTCAGC	0.378																																					p.D774H		Atlas-SNP	.											.	NDST4	193	.	0			c.G2320C						.						73.0	70.0	71.0					4																	115754838		2203	4300	6503	SO:0001583	missense	64579	exon12			CTGGGTCAGATCT	AB036429	CCDS3706.1	4q26	2008-02-05			ENSG00000138653	ENSG00000138653		"""Sulfotransferases, membrane-bound"""	20779	protein-coding gene	gene with protein product		615039				11087757	Standard	NM_022569		Approved		uc003ibu.3	Q9H3R1	OTTHUMG00000132916	ENST00000264363.2:c.2320G>C	chr4.hg19:g.115754838C>G	ENSP00000264363:p.Asp774His	192.0	0.0		104.0	9.0	NM_022569	Q2KHM8	Missense_Mutation	SNP	ENST00000264363.2	hg19	CCDS3706.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.336813	0.81801	.	.	ENSG00000138653	ENST00000264363	D	0.86097	-2.07	5.98	5.13	0.70059	Sulfotransferase domain (1);	0.046170	0.85682	D	0.000000	D	0.89441	0.6716	M	0.74258	2.255	0.49299	D	0.999773	P	0.39003	0.654	P	0.48334	0.574	D	0.90308	0.4335	10	0.87932	D	0	.	16.6677	0.85257	0.1308:0.8692:0.0:0.0	.	774	Q9H3R1	NDST4_HUMAN	H	774	ENSP00000264363:D774H	ENSP00000264363:D774H	D	-	1	0	NDST4	115974287	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.661000	0.68025	1.511000	0.48818	0.650000	0.86243	GAC	.	.		0.378	NDST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256427.1	NM_022569	
HHIP	64399	hgsc.bcm.edu	37	4	145567924	145567924	+	Missense_Mutation	SNP	G	G	A	rs199961348		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:145567924G>A	ENST00000296575.3	+	1	752	c.97G>A	c.(97-99)Gga>Aga	p.G33R	HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.G33R|HHIP-AS1_ENST00000503066.1_RNA|HHIP-AS1_ENST00000508269.1_RNA	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	33					carbohydrate metabolic process (GO:0005975)|dorsal/ventral pattern formation (GO:0009953)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|negative regulation of signal transduction (GO:0009968)|negative regulation of smoothened signaling pathway (GO:0045879)|neuroblast proliferation (GO:0007405)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|skeletal system morphogenesis (GO:0048705)|smoothened signaling pathway (GO:0007224)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	hedgehog family protein binding (GO:0097108)|oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CGAAGGGAGCGGAGCAAGGAG	0.567																																					p.G33R		Atlas-SNP	.											HHIP,caecum,carcinoma,0,1	HHIP	100	.	0			c.G97A						.						89.0	95.0	93.0					4																	145567924		2203	4300	6503	SO:0001583	missense	64399	exon1			GGGAGCGGAGCAA	AK024645	CCDS3762.1	4q31.21-q31.3	2008-08-29	2001-11-29		ENSG00000164161	ENSG00000164161			14866	protein-coding gene	gene with protein product		606178	"""hedgehog-interacting protein"""			11435703, 11731473	Standard	NM_022475		Approved	HIP, FLJ20992	uc003ijs.2	Q96QV1	OTTHUMG00000161428	ENST00000296575.3:c.97G>A	chr4.hg19:g.145567924G>A	ENSP00000296575:p.Gly33Arg	207.0	0.0		43.0	18.0	NM_022475	Q6PK09|Q8NCI7|Q9BXK3|Q9H1J4|Q9H7E7	Missense_Mutation	SNP	ENST00000296575.3	hg19	CCDS3762.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788555	0.70337	.	.	ENSG00000164161	ENST00000296575;ENST00000434550	T;T	0.50813	3.31;0.73	5.11	4.2	0.49525	.	0.263715	0.43747	D	0.000538	T	0.48857	0.1523	N	0.19112	0.55	0.46336	D	0.998992	D;D	0.67145	0.973;0.996	B;P	0.58780	0.282;0.845	T	0.55198	-0.8178	10	0.66056	D	0.02	-13.8416	15.0244	0.71656	0.0:0.1426:0.8574:0.0	.	33;33	Q96QV1;Q96QV1-2	HHIP_HUMAN;.	R	33	ENSP00000296575:G33R;ENSP00000408587:G33R	ENSP00000296575:G33R	G	+	1	0	HHIP	145787374	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.720000	0.54933	2.373000	0.80994	0.650000	0.86243	GGA	.	.		0.567	HHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364887.2		
FAM160A1	729830	hgsc.bcm.edu	37	4	152498952	152498952	+	Silent	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:152498952A>T	ENST00000505231.1	+	3	615	c.456A>T	c.(454-456)ggA>ggT	p.G152G	RN7SKP35_ENST00000517210.1_RNA|FAM160A1_ENST00000435205.1_Silent_p.G152G			Q05DH4	F16A1_HUMAN	family with sequence similarity 160, member A1	152										endometrium(2)|kidney(1)	3						CTTGTTCAGGAACAACCACCC	0.483																																					p.G152G		Atlas-SNP	.											.	FAM160A1	60	.	0			c.A456T						.						136.0	114.0	120.0					4																	152498952		692	1591	2283	SO:0001819	synonymous_variant	729830	exon5			TTCAGGAACAACC		CCDS47146.1	4q31.3	2012-11-30			ENSG00000164142	ENSG00000164142			34237	protein-coding gene	gene with protein product							Standard	NM_001109977		Approved	FLJ43373	uc003imj.2	Q05DH4	OTTHUMG00000161675	ENST00000505231.1:c.456A>T	chr4.hg19:g.152498952A>T		240.0	0.0		135.0	37.0	NM_001109977	Q6ZUS2	Silent	SNP	ENST00000505231.1	hg19	CCDS47146.1																																																																																			.	.		0.483	FAM160A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365691.1	NM_001109977	
RAPGEF2	9693	hgsc.bcm.edu	37	4	160262813	160262813	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:160262813A>T	ENST00000264431.4	+	14	2568	c.2149A>T	c.(2149-2151)Agc>Tgc	p.S717C		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	717	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CCTTCAGCTCAGCACTGTGGA	0.373																																					p.S717C		Atlas-SNP	.											.	RAPGEF2	171	.	0			c.A2149T						.						86.0	80.0	82.0					4																	160262813		1894	4129	6023	SO:0001583	missense	9693	exon14			CAGCTCAGCACTG	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2149A>T	chr4.hg19:g.160262813A>T	ENSP00000264431:p.Ser717Cys	257.0	0.0		172.0	45.0	NM_014247	D3DP27	Missense_Mutation	SNP	ENST00000264431.4	hg19	CCDS43277.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.577649	0.86645	.	.	ENSG00000109756	ENST00000264431	T	0.34667	1.35	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.62221	0.2410	M	0.79614	2.46	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.66654	-0.5869	10	0.87932	D	0	.	16.3668	0.83335	1.0:0.0:0.0:0.0	.	717	Q9Y4G8	RPGF2_HUMAN	C	717	ENSP00000264431:S717C	ENSP00000264431:S717C	S	+	1	0	RAPGEF2	160482263	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.313000	0.96297	2.322000	0.78497	0.528000	0.53228	AGC	.	.		0.373	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247	
TENM3	55714	hgsc.bcm.edu	37	4	183650121	183650121	+	Missense_Mutation	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr4:183650121G>A	ENST00000511685.1	+	14	2495	c.2372G>A	c.(2371-2373)gGa>gAa	p.G791E	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.G791E			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	791					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCTACAGATGGACTCATTGAC	0.428																																					p.G791E		Atlas-SNP	.											.	.	.	.	0			c.G2372A						.						63.0	59.0	60.0					4																	183650121		1887	4118	6005	SO:0001583	missense	55714	exon13			CAGATGGACTCAT	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.2372G>A	chr4.hg19:g.183650121G>A	ENSP00000424226:p.Gly791Glu	168.0	0.0		106.0	6.0	NM_001080477	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	hg19	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341944	0.81911	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.12774	2.65;2.65	5.14	5.14	0.70334	.	.	.	.	.	T	0.40067	0.1102	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.28870	-1.0030	9	0.87932	D	0	.	18.7873	0.91960	0.0:0.0:1.0:0.0	.	791	Q9P273	TEN3_HUMAN	E	791	ENSP00000424226:G791E;ENSP00000385276:G791E	ENSP00000385276:G791E	G	+	2	0	ODZ3	183887115	1.000000	0.71417	0.992000	0.48379	0.971000	0.66376	9.657000	0.98554	2.666000	0.90696	0.563000	0.77884	GGA	.	.		0.428	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1		
FASTKD3	79072	hgsc.bcm.edu	37	5	7867391	7867391	+	Missense_Mutation	SNP	T	T	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr5:7867391T>A	ENST00000264669.5	-	2	942	c.806A>T	c.(805-807)aAa>aTa	p.K269I	MTRR_ENST00000264668.2_5'Flank|MTRR_ENST00000440940.2_5'Flank|MTRR_ENST00000341013.6_5'Flank|FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	269					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCATCCACTTTTTCAGTACA	0.358																																					p.K269I		Atlas-SNP	.											.	FASTKD3	88	.	0			c.A806T						.						83.0	93.0	89.0					5																	7867391		2202	4300	6502	SO:0001583	missense	79072	exon2			TCCACTTTTTCAG	AK026927	CCDS3873.1	5p15.31	2008-02-05			ENSG00000124279	ENSG00000124279			28758	protein-coding gene	gene with protein product						12477932	Standard	NM_024091		Approved	MGC5297, FLJ23274	uc003jeb.3	Q14CZ7	OTTHUMG00000131029	ENST00000264669.5:c.806A>T	chr5.hg19:g.7867391T>A	ENSP00000264669:p.Lys269Ile	18.0	0.0		33.0	5.0	NM_024091	Q9BVD3	Missense_Mutation	SNP	ENST00000264669.5	hg19	CCDS3873.1	.	.	.	.	.	.	.	.	.	.	T	16.22	3.060923	0.55432	.	.	ENSG00000124279	ENST00000264669	T	0.30182	1.54	4.85	2.35	0.29111	.	0.536026	0.20873	N	0.084127	T	0.26268	0.0641	L	0.60455	1.87	0.09310	N	1	B	0.31910	0.346	B	0.30316	0.114	T	0.12167	-1.0558	10	0.37606	T	0.19	-12.9531	7.9617	0.30074	0.1359:0.0:0.1425:0.7215	.	269	Q14CZ7	FAKD3_HUMAN	I	269	ENSP00000264669:K269I	ENSP00000264669:K269I	K	-	2	0	FASTKD3	7920391	0.797000	0.28877	0.001000	0.08648	0.725000	0.41563	2.733000	0.47360	0.304000	0.22809	0.528000	0.53228	AAA	.	.		0.358	FASTKD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253673.1	NM_024091	
DNAH5	1767	hgsc.bcm.edu	37	5	13871081	13871081	+	Missense_Mutation	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr5:13871081G>A	ENST00000265104.4	-	24	3733	c.3629C>T	c.(3628-3630)aCa>aTa	p.T1210I	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1210	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCAGGCCTTTGTCTCAGCAGT	0.388									Kartagener syndrome																												p.T1210I		Atlas-SNP	.											.	DNAH5	868	.	0			c.C3629T						.						86.0	88.0	87.0					5																	13871081		2202	4300	6502	SO:0001583	missense	1767	exon24	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	GCCTTTGTCTCAG	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3629C>T	chr5.hg19:g.13871081G>A	ENSP00000265104:p.Thr1210Ile	325.0	0.0		235.0	100.0	NM_001369	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	hg19	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	G	7.080	0.570056	0.13560	.	.	ENSG00000039139	ENST00000265104	T	0.21031	2.03	5.84	4.07	0.47477	.	0.097795	0.64402	N	0.000002	T	0.14356	0.0347	L	0.39085	1.19	0.47819	D	0.999529	B	0.02656	0.0	B	0.06405	0.002	T	0.05989	-1.0852	10	0.06365	T	0.9	.	11.6947	0.51536	0.1845:0.0:0.8155:0.0	.	1210	Q8TE73	DYH5_HUMAN	I	1210	ENSP00000265104:T1210I	ENSP00000265104:T1210I	T	-	2	0	DNAH5	13924081	1.000000	0.71417	0.938000	0.37757	0.754000	0.42855	4.471000	0.60182	0.816000	0.34421	0.655000	0.94253	ACA	.	.		0.388	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
CDH9	1007	hgsc.bcm.edu	37	5	26902658	26902658	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr5:26902658C>A	ENST00000231021.4	-	7	1352	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	394	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TTTACATCTTCATCTACTTCT	0.378																																					p.E394X	Melanoma(8;187 585 15745 40864 52829)	Atlas-SNP	.											.	CDH9	305	.	0			c.G1180T						.						127.0	121.0	123.0					5																	26902658		2203	4300	6503	SO:0001587	stop_gained	1007	exon7			CATCTTCATCTAC	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1180G>T	chr5.hg19:g.26902658C>A	ENSP00000231021:p.Glu394*	73.0	0.0		83.0	45.0	NM_016279	Q3B7I5	Nonsense_Mutation	SNP	ENST00000231021.4	hg19	CCDS3893.1	.	.	.	.	.	.	.	.	.	.	C	38	6.871465	0.97901	.	.	ENSG00000113100	ENST00000231021	.	.	.	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.2244	0.89913	0.0:1.0:0.0:0.0	.	.	.	.	X	394	.	.	E	-	1	0	CDH9	26938415	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.461000	0.80834	2.648000	0.89879	0.650000	0.86243	GAA	.	.		0.378	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
EMB	133418	hgsc.bcm.edu	37	5	49699137	49699137	+	Missense_Mutation	SNP	T	T	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr5:49699137T>A	ENST00000303221.5	-	6	967	c.752A>T	c.(751-753)gAg>gTg	p.E251V	EMB_ENST00000508934.1_Missense_Mutation_p.E197V|EMB_ENST00000514111.1_Missense_Mutation_p.E201V|EMB_ENST00000506190.1_5'UTR	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	251	Ig-like V-type 2.				cell adhesion (GO:0007155)|plasma membrane lactate transport (GO:0035879)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	organic cyclic compound binding (GO:0097159)			breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				CACCACAAGCTCAATGTGTTC	0.438																																					p.E251V		Atlas-SNP	.											.	EMB	42	.	0			c.A752T						.						114.0	101.0	106.0					5																	49699137		2203	4299	6502	SO:0001583	missense	133418	exon6			ACAAGCTCAATGT	BC059398	CCDS3953.1	5q11.1	2013-01-29	2010-06-24		ENSG00000170571	ENSG00000170571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30465	protein-coding gene	gene with protein product		615669	"""embigin homolog (mouse)"""			9438341	Standard	NM_198449		Approved	MGC71745	uc003jom.3	Q6PCB8	OTTHUMG00000131161	ENST00000303221.5:c.752A>T	chr5.hg19:g.49699137T>A	ENSP00000302289:p.Glu251Val	378.0	0.0		269.0	85.0	NM_198449	B7Z6S3|B7Z902	Missense_Mutation	SNP	ENST00000303221.5	hg19	CCDS3953.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.524400	0.44969	.	.	ENSG00000170571	ENST00000303221;ENST00000510295;ENST00000508934;ENST00000514111	T;T;T	0.69561	-0.41;-0.41;-0.41	4.75	3.49	0.39957	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.557202	0.19547	N	0.111649	T	0.63827	0.2544	L	0.38531	1.155	0.09310	N	1	P;P	0.48589	0.912;0.698	P;B	0.52598	0.703;0.238	T	0.53479	-0.8433	9	.	.	.	-9.6347	9.434	0.38628	0.159:0.0:0.0:0.841	.	197;251	D6RDX7;Q6PCB8	.;EMB_HUMAN	V	251;223;197;201	ENSP00000302289:E251V;ENSP00000425215:E197V;ENSP00000426404:E201V	.	E	-	2	0	EMB	49734894	0.008000	0.16893	0.360000	0.25837	0.952000	0.60782	1.701000	0.37825	1.906000	0.55180	0.397000	0.26171	GAG	.	.		0.438	EMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253853.1	NM_198449	
ATG10	83734	hgsc.bcm.edu	37	5	81548458	81548458	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr5:81548458G>T	ENST00000282185.3	+	6	825	c.531G>T	c.(529-531)aaG>aaT	p.K177N	ATG10_ENST00000458350.3_Missense_Mutation_p.K177N|ATG10_ENST00000513634.1_Missense_Mutation_p.K177N|ATG10_ENST00000514253.2_Intron	NM_031482.4	NP_113670.1	Q9H0Y0	ATG10_HUMAN	autophagy related 10	177					autophagy (GO:0006914)|autophagy in response to ER overload (GO:0034263)|positive regulation of protein modification process (GO:0031401)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|intracellular (GO:0005622)	Atg12 ligase activity (GO:0019777)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(2)	9		Lung NSC(167;0.0258)|all_lung(232;0.0294)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;9.94e-41)|Epithelial(54;6.3e-36)|all cancers(79;2.31e-30)		CTGTATTAAAGAATTCTCAGA	0.343																																					p.K177N		Atlas-SNP	.											.	ATG10	23	.	0			c.G531T						.						71.0	73.0	72.0					5																	81548458		2203	4300	6503	SO:0001583	missense	83734	exon7			ATTAAAGAATTCT	AK024016	CCDS4057.1	5q14.1	2014-02-12	2012-06-06	2005-09-11	ENSG00000152348	ENSG00000152348			20315	protein-coding gene	gene with protein product		610800	"""APG10 autophagy 10-like (S. cerevisiae)"", ""ATG10 autophagy related 10 homolog (S. cerevisiae)"""	APG10L			Standard	NM_031482		Approved	DKFZP586I0418, FLJ13954	uc003khr.3	Q9H0Y0	OTTHUMG00000119041	ENST00000282185.3:c.531G>T	chr5.hg19:g.81548458G>T	ENSP00000282185:p.Lys177Asn	128.0	0.0		102.0	21.0	NM_001131028	B2RE09|Q6PIX1|Q9H842	Missense_Mutation	SNP	ENST00000282185.3	hg19	CCDS4057.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958521	0.18507	.	.	ENSG00000152348	ENST00000282185;ENST00000458350;ENST00000513634	T;T;T	0.47177	1.88;1.88;0.85	5.86	3.84	0.44239	.	0.256554	0.39146	N	0.001459	T	0.28400	0.0702	L	0.36672	1.1	0.27748	N	0.944259	B;B	0.32245	0.112;0.361	B;B	0.27500	0.016;0.08	T	0.06041	-1.0849	10	0.19590	T	0.45	.	4.0965	0.09993	0.1451:0.0:0.6315:0.2234	.	177;177	D6RDX3;Q9H0Y0	.;ATG10_HUMAN	N	177	ENSP00000282185:K177N;ENSP00000404938:K177N;ENSP00000425225:K177N	ENSP00000282185:K177N	K	+	3	2	ATG10	81584214	1.000000	0.71417	1.000000	0.80357	0.188000	0.23474	0.467000	0.22035	2.776000	0.95493	0.655000	0.94253	AAG	.	.		0.343	ATG10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239252.2	NM_001131028	
PJA2	9867	hgsc.bcm.edu	37	5	108714875	108714875	+	Missense_Mutation	SNP	A	A	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr5:108714875A>C	ENST00000361189.2	-	4	552	c.313T>G	c.(313-315)Tgt>Ggt	p.C105G	PJA2_ENST00000361557.3_Missense_Mutation_p.C105G|PJA2_ENST00000511624.1_5'UTR	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	105					long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GCTGAACCACAAGTGGGAATT	0.388																																					p.C105G		Atlas-SNP	.											.	PJA2	53	.	0			c.T313G						.						71.0	70.0	70.0					5																	108714875		2202	4300	6502	SO:0001583	missense	9867	exon4			AACCACAAGTGGG	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.313T>G	chr5.hg19:g.108714875A>C	ENSP00000354775:p.Cys105Gly	96.0	0.0		82.0	5.0	NM_014819	A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	hg19	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	A	1.976	-0.435255	0.04669	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.04502	3.61;3.61	6.16	5.0	0.66597	.	0.198971	0.45867	D	0.000336	T	0.05823	0.0152	L	0.56769	1.78	0.35734	D	0.818173	B	0.28820	0.224	B	0.29353	0.101	T	0.24835	-1.0149	10	0.12430	T	0.62	-5.1915	8.2722	0.31851	0.7292:0.1387:0.0:0.1321	.	105	O43164	PJA2_HUMAN	G	105	ENSP00000354775:C105G;ENSP00000355284:C105G	ENSP00000354775:C105G	C	-	1	0	PJA2	108742774	0.977000	0.34250	0.912000	0.35992	0.656000	0.38851	1.404000	0.34623	1.134000	0.42165	0.528000	0.53228	TGT	.	.		0.388	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1	NM_014819	
SYCP2L	221711	hgsc.bcm.edu	37	6	10924837	10924837	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr6:10924837C>T	ENST00000283141.6	+	15	1477	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	SYCP2L_ENST00000543878.1_Missense_Mutation_p.S235L|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	394						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTCAACATATCACAAGTTtcc	0.299																																					p.S394L		Atlas-SNP	.											.	SYCP2L	101	.	0			c.C1181T						.						81.0	75.0	77.0					6																	10924837		1828	4087	5915	SO:0001583	missense	221711	exon15			ACATATCACAAGT	AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.1181C>T	chr6.hg19:g.10924837C>T	ENSP00000283141:p.Ser394Leu	69.0	0.0		103.0	33.0	NM_001040274	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Missense_Mutation	SNP	ENST00000283141.6	hg19	CCDS43423.1	.	.	.	.	.	.	.	.	.	.	C	0.244	-1.011153	0.02095	.	.	ENSG00000153157	ENST00000543878;ENST00000283141	T;T	0.39997	1.05;2.37	5.24	-0.363	0.12556	.	1.038270	0.07581	N	0.920251	T	0.08403	0.0209	N	0.17082	0.46	0.09310	N	1	B;B	0.14438	0.0;0.01	B;B	0.08055	0.001;0.003	T	0.36841	-0.9731	10	0.15952	T	0.53	-13.2427	7.7702	0.29004	0.0:0.4152:0.0:0.5848	.	235;394	B4DFB8;Q5T4T6	.;SYC2L_HUMAN	L	235;394	ENSP00000440676:S235L;ENSP00000283141:S394L	ENSP00000283141:S394L	S	+	2	0	SYCP2L	11032823	0.000000	0.05858	0.000000	0.03702	0.421000	0.31385	0.025000	0.13577	0.041000	0.15688	-0.140000	0.14226	TCA	.	.		0.299	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3	NM_194299	
HIST1H2BD	3017	hgsc.bcm.edu	37	6	26158526	26158526	+	Nonsense_Mutation	SNP	C	C	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr6:26158526C>G	ENST00000289316.2	+	1	153	c.129C>G	c.(127-129)taC>taG	p.Y43*	HIST1H2BD_ENST00000377777.4_Nonsense_Mutation_p.Y43*	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	43					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						TGTATGTGTACAAGGTGCTGA	0.557																																					p.Y43X		Atlas-SNP	.											.	HIST1H2BD	45	.	0			c.C129G						.						203.0	188.0	193.0					6																	26158526		2203	4300	6503	SO:0001587	stop_gained	3017	exon1			TGTGTACAAGGTG	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.129C>G	chr6.hg19:g.26158526C>G	ENSP00000289316:p.Tyr43*	201.0	0.0		104.0	13.0	NM_021063		Nonsense_Mutation	SNP	ENST00000289316.2	hg19	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	28.1	4.892487	0.91889	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	.	.	.	5.19	4.32	0.51571	.	0.000000	0.38058	N	0.001833	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3013	0.43654	0.1345:0.7921:0.0:0.0733	.	.	.	.	X	43	.	ENSP00000289316:Y43X	Y	+	3	2	HIST1H2BD	26266505	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.212000	0.51145	1.523000	0.49018	0.650000	0.86243	TAC	.	.		0.557	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063	
ITPR3	3710	hgsc.bcm.edu	37	6	33652419	33652419	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr6:33652419C>A	ENST00000374316.5	+	39	6151	c.5091C>A	c.(5089-5091)aaC>aaA	p.N1697K	ITPR3_ENST00000605930.1_Missense_Mutation_p.N1697K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1697					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	ACCTCCAGAACCGGAAGTCCA	0.637																																					p.N1697K		Atlas-SNP	.											.	ITPR3	409	.	0			c.C5091A						.						78.0	82.0	80.0					6																	33652419		2203	4300	6503	SO:0001583	missense	3710	exon38			CCAGAACCGGAAG	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.5091C>A	chr6.hg19:g.33652419C>A	ENSP00000363435:p.Asn1697Lys	211.0	0.0		38.0	11.0	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	hg19	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056825	0.36277	.	.	ENSG00000096433	ENST00000374316	D	0.89746	-2.56	5.05	3.23	0.37069	.	0.200004	0.51477	D	0.000099	T	0.67869	0.2939	L	0.38838	1.175	0.46113	D	0.998874	P	0.38922	0.651	B	0.33521	0.165	T	0.69235	-0.5198	10	0.09843	T	0.71	-35.198	10.6993	0.45918	0.0:0.8411:0.0:0.1589	.	1697	Q14573	ITPR3_HUMAN	K	1697	ENSP00000363435:N1697K	ENSP00000363435:N1697K	N	+	3	2	ITPR3	33760397	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.131000	0.50515	1.265000	0.44215	-0.136000	0.14681	AAC	.	.		0.637	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
BTBD9	114781	hgsc.bcm.edu	37	6	38565731	38565731	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr6:38565731A>G	ENST00000481247.1	-	2	291	c.140T>C	c.(139-141)tTt>tCt	p.F47S	BTBD9_ENST00000419706.2_5'Flank|BTBD9_ENST00000403056.1_Missense_Mutation_p.F47S|BTBD9_ENST00000314100.6_5'Flank	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	47	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GTGGGCAGGAAAACGTTTCTT	0.398																																					p.F47S		Atlas-SNP	.											.	BTBD9	85	.	0			c.T140C						.						101.0	98.0	99.0					6																	38565731		1903	4118	6021	SO:0001583	missense	114781	exon3			GCAGGAAAACGTT		CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.140T>C	chr6.hg19:g.38565731A>G	ENSP00000418751:p.Phe47Ser	221.0	0.0		198.0	25.0	NM_052893	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	ENST00000481247.1	hg19	CCDS47418.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.757767	0.89843	.	.	ENSG00000183826	ENST00000481247;ENST00000403056;ENST00000498633	T;T;T	0.71698	-0.59;-0.59;-0.59	5.36	5.36	0.76844	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	D	0.88299	0.6399	H	0.97491	4.015	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.92473	0.5987	9	0.87932	D	0	.	15.6385	0.76977	1.0:0.0:0.0:0.0	.	47	Q96Q07	BTBD9_HUMAN	S	47	ENSP00000418751:F47S;ENSP00000386121:F47S;ENSP00000419382:F47S	ENSP00000386121:F47S	F	-	2	0	BTBD9	38673709	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.610000	0.90902	2.164000	0.68074	0.533000	0.62120	TTT	.	.		0.398	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040433.2	NM_152733	
FILIP1	27145	hgsc.bcm.edu	37	6	76024440	76024440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr6:76024440C>A	ENST00000237172.7	-	5	1438	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Nonsense_Mutation_p.E370*|FILIP1_ENST00000370020.1_Nonsense_Mutation_p.E271*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	370										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTTCCACATTCTCCTTTGGCA	0.413																																					p.E370X		Atlas-SNP	.											.	FILIP1	173	.	0			c.G1108T						.						167.0	167.0	167.0					6																	76024440		2203	4300	6503	SO:0001587	stop_gained	27145	exon5			CACATTCTCCTTT	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1108G>T	chr6.hg19:g.76024440C>A	ENSP00000237172:p.Glu370*	148.0	0.0		108.0	26.0	NM_015687	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	ENST00000237172.7	hg19	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	39	7.345240	0.98224	.	.	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-28.3168	20.0965	0.97849	0.0:1.0:0.0:0.0	.	.	.	.	X	370;370;271	.	ENSP00000237172:E370X	E	-	1	0	FILIP1	76081160	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.959000	0.70339	2.824000	0.97209	0.655000	0.94253	GAA	.	.		0.413	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
IFNGR1	3459	hgsc.bcm.edu	37	6	137522034	137522034	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr6:137522034A>G	ENST00000367739.4	-	6	966	c.845T>C	c.(844-846)aTa>aCa	p.I282T	IFNGR1_ENST00000543628.1_Missense_Mutation_p.I254T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	282					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CTTGGGTAATATTATGCTTTT	0.264																																					p.I282T		Atlas-SNP	.											.	IFNGR1	46	.	0			c.T845C						.						26.0	27.0	27.0					6																	137522034		2199	4289	6488	SO:0001583	missense	3459	exon6			GGTAATATTATGC		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.845T>C	chr6.hg19:g.137522034A>G	ENSP00000356713:p.Ile282Thr	117.0	0.0		152.0	9.0	NM_000416	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	hg19	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.500852	0.26861	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.71461	-0.57;-0.42	5.47	-4.44	0.03557	Interferon gamma receptor, poxvirus/mammal (1);	1.247580	0.05363	N	0.534128	T	0.24160	0.0585	L	0.29908	0.895	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.14578	0.003;0.011	T	0.04386	-1.0955	10	0.13470	T	0.59	-0.5488	0.542	0.00647	0.3193:0.1334:0.2856:0.2617	.	254;282	F5H5M7;P15260	.;INGR1_HUMAN	T	282;254	ENSP00000356713:I282T;ENSP00000443282:I254T	ENSP00000356713:I282T	I	-	2	0	IFNGR1	137563727	0.000000	0.05858	0.003000	0.11579	0.470000	0.32858	-0.665000	0.05286	-0.378000	0.07918	0.477000	0.44152	ATA	.	.		0.264	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1		
SEMA3D	223117	hgsc.bcm.edu	37	7	84727158	84727158	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr7:84727158A>G	ENST00000284136.6	-	2	318	c.275T>C	c.(274-276)cTa>cCa	p.L92P	SEMA3D_ENST00000444867.1_Missense_Mutation_p.L92P	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	92	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGACTGAGTAGAAAGATGTG	0.363																																					p.L92P	Ovarian(63;442 1191 17318 29975 31528)	Atlas-SNP	.											.	SEMA3D	177	.	0			c.T275C						.						112.0	116.0	114.0					7																	84727158		2203	4300	6503	SO:0001583	missense	223117	exon2			CTGAGTAGAAAGA	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.275T>C	chr7.hg19:g.84727158A>G	ENSP00000284136:p.Leu92Pro	178.0	0.0		159.0	16.0	NM_152754	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	hg19	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	A	17.14	3.313278	0.60414	.	.	ENSG00000153993	ENST00000284136;ENST00000444867	T;T	0.11063	2.81;2.81	5.56	5.56	0.83823	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.31040	0.0784	M	0.71581	2.175	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.76575	0.988;0.974	T	0.01998	-1.1232	10	0.72032	D	0.01	.	12.2542	0.54615	0.8729:0.0:0.0:0.1271	.	92;92	C9JYT6;O95025	.;SEM3D_HUMAN	P	92	ENSP00000284136:L92P;ENSP00000401366:L92P	ENSP00000284136:L92P	L	-	2	0	SEMA3D	84565094	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.320000	0.59203	2.241000	0.73720	0.482000	0.46254	CTA	.	.		0.363	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754	
MUC12	10071	hgsc.bcm.edu	37	7	100646199	100646199	+	Missense_Mutation	SNP	T	T	C	rs181671450	byFrequency	TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr7:100646199T>C	ENST00000379442.3	+	5	12784	c.12784T>C	c.(12784-12786)Ttt>Ctt	p.F4262L	MUC12_ENST00000536621.1_Missense_Mutation_p.F4119L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4262	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACAACACACTTTTCTGCCAG	0.552													T|||	1164	0.232428	0.2829	0.1571	5008	,	,		41858	0.2063		0.2624	False		,,,				2504	0.2137				p.F4119L		Atlas-SNP	.											MUC12,NS,carcinoma,0,1	MUC12	140	.	0			c.T12355C						.						8.0	10.0	9.0					7																	100646199		491	1071	1562	SO:0001583	missense	10071	exon2			ACACACTTTTCTG	AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.12784T>C	chr7.hg19:g.100646199T>C	ENSP00000368755:p.Phe4262Leu	0.0	0.0		4.0	4.0	NM_001164462	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	ENST00000379442.3	hg19		.	.	.	.	.	.	.	.	.	.	T	4.831	0.154453	0.09236	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11712	2.75;2.75	0.53	0.53	0.17102	.	.	.	.	.	T	0.04679	0.0127	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.41645	-0.9497	6	0.20519	T	0.43	.	5.2833	0.15688	0.0:1.0E-4:0.0:0.9999	.	.	.	.	L	4262;4119	ENSP00000368755:F4262L;ENSP00000441929:F4119L	ENSP00000368755:F4262L	F	+	1	0	MUC12	100432919	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	-0.028000	0.12350	0.435000	0.26365	0.164000	0.16699	TTT	.	C|1.000;|0.000		0.552	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000347234.1	XM_379904	
LRRC4	64101	hgsc.bcm.edu	37	7	127670230	127670230	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr7:127670230C>T	ENST00000249363.3	-	2	721	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	155					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGGTTGTTGCGAAGCCAGAG	0.587																																					p.R155H		Atlas-SNP	.											LRRC4,colon,carcinoma,0,1	LRRC4	72	.	0			c.G464A						.						71.0	75.0	74.0					7																	127670230		2203	4300	6503	SO:0001583	missense	64101	exon2			TTGTTGCGAAGCC	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.464G>A	chr7.hg19:g.127670230C>T	ENSP00000249363:p.Arg155His	81.0	0.0		30.0	16.0	NM_022143	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	hg19	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919311	0.73098	.	.	ENSG00000128594	ENST00000249363;ENST00000494115	D;D	0.91407	-2.84;-2.59	4.56	4.56	0.56223	.	0.000000	0.64402	D	0.000001	D	0.90428	0.7003	N	0.13235	0.315	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.91691	0.5366	10	0.54805	T	0.06	.	14.8699	0.70448	0.0:1.0:0.0:0.0	.	155	Q9HBW1	LRRC4_HUMAN	H	155;73	ENSP00000249363:R155H;ENSP00000418254:R73H	ENSP00000249363:R155H	R	-	2	0	LRRC4	127457466	0.984000	0.35163	1.000000	0.80357	0.999000	0.98932	7.600000	0.82769	2.316000	0.78162	0.655000	0.94253	CGC	.	.		0.587	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
DENND2A	27147	hgsc.bcm.edu	37	7	140301984	140301984	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr7:140301984C>A	ENST00000275884.6	-	2	631	c.214G>T	c.(214-216)Gag>Tag	p.E72*	DENND2A_ENST00000496613.1_Nonsense_Mutation_p.E72*|DENND2A_ENST00000537639.1_Nonsense_Mutation_p.E72*|DENND2A_ENST00000492720.1_Nonsense_Mutation_p.E72*			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	72					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					AGATAATCCTCCTGTCCGTCT	0.542																																					p.E72X		Atlas-SNP	.											.	DENND2A	132	.	0			c.G214T						.						171.0	164.0	166.0					7																	140301984		1974	4173	6147	SO:0001587	stop_gained	27147	exon1			AATCCTCCTGTCC	AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.214G>T	chr7.hg19:g.140301984C>A	ENSP00000275884:p.Glu72*	179.0	0.0		94.0	37.0	NM_015689	C9JUI3|Q1RMD5|Q86XY0	Nonsense_Mutation	SNP	ENST00000275884.6	hg19	CCDS43659.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489489	0.96323	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720;ENST00000491728;ENST00000489552;ENST00000477488	.	.	.	4.85	4.85	0.62838	.	0.753358	0.12727	N	0.444179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-18.0874	18.1897	0.89803	0.0:1.0:0.0:0.0	.	.	.	.	X	72	.	ENSP00000275884:E72X	E	-	1	0	DENND2A	139948453	0.130000	0.22417	0.099000	0.21106	0.106000	0.19336	0.960000	0.29253	2.529000	0.85273	0.655000	0.94253	GAG	.	.		0.542	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348742.1	NM_015689	
FAM66D	100132923	hgsc.bcm.edu	37	8	11990062	11990062	+	RNA	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:11990062A>G	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		GAGGTTTAGCAGGGAGCTTTG	0.468																																					p.L486P		Atlas-SNP	.											.	.	.	.	0			c.T1457C						.																																					392197	exon1			TTTAGCAGGGAGC			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		chr8.hg19:g.11990062A>G		292.0	0.0		212.0	61.0	NM_001256869		Missense_Mutation	SNP	ENST00000434078.2	hg19																																																																																				.	.		0.468	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425	
LPL	4023	hgsc.bcm.edu	37	8	19809442	19809442	+	Missense_Mutation	SNP	T	T	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:19809442T>A	ENST00000311322.8	+	3	882	c.412T>A	c.(412-414)Ttt>Att	p.F138I		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	138					chylomicron remodeling (GO:0034371)|fatty acid biosynthetic process (GO:0006633)|lipoprotein metabolic process (GO:0042157)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of sequestering of triglyceride (GO:0010890)|response to cold (GO:0009409)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle remodeling (GO:0034372)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|lipoprotein lipase activity (GO:0004465)|phospholipase activity (GO:0004620)|receptor binding (GO:0005102)|triglyceride binding (GO:0017129)|triglyceride lipase activity (GO:0004806)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	AST-120(DB05269)|Tyloxapol(DB06439)	TGTGGCCCGGTTTATCAACTG	0.512																																					p.F138I		Atlas-SNP	.											.	LPL	78	.	0			c.T412A						.						80.0	75.0	76.0					8																	19809442		2203	4300	6503	SO:0001583	missense	4023	exon3			GCCCGGTTTATCA		CCDS6012.1	8p22	2012-10-02			ENSG00000175445	ENSG00000175445	3.1.1.34		6677	protein-coding gene	gene with protein product		609708		LIPD			Standard	NM_000237		Approved		uc003wzk.4	P06858	OTTHUMG00000036645	ENST00000311322.8:c.412T>A	chr8.hg19:g.19809442T>A	ENSP00000309757:p.Phe138Ile	192.0	0.0		73.0	7.0	NM_000237	B2R5T9|Q16282|Q16283|Q96FC4	Missense_Mutation	SNP	ENST00000311322.8	hg19	CCDS6012.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.821748	0.90873	.	.	ENSG00000175445	ENST00000520959;ENST00000311322;ENST00000538071;ENST00000535763	D;D	0.91407	-2.84;-2.84	5.91	5.91	0.95273	Lipase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.81112	2.525	0.40734	D	0.982770	D	0.89917	1.0	D	0.97110	1.0	D	0.95296	0.8399	8	.	.	.	-21.7104	14.2952	0.66308	0.0:0.0:0.0:1.0	.	138	P06858	LIPL_HUMAN	I	62;138;62;124	ENSP00000428496:F62I;ENSP00000309757:F138I	.	F	+	1	0	LPL	19853722	1.000000	0.71417	0.988000	0.46212	0.871000	0.50021	7.898000	0.87363	2.263000	0.75096	0.377000	0.23210	TTT	.	.		0.512	LPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089113.3		
ADAMDEC1	27299	hgsc.bcm.edu	37	8	24256455	24256455	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:24256455A>G	ENST00000256412.4	+	9	1051	c.831A>G	c.(829-831)atA>atG	p.I277M	ADAMDEC1_ENST00000538205.1_Missense_Mutation_p.I198M|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.I198M|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	277	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				immune response (GO:0006955)|negative regulation of cell adhesion (GO:0007162)	extracellular region (GO:0005576)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GGGATAAGATAAAGGTGGTGC	0.448																																					p.I277M	Ovarian(147;687 1849 3699 25981 31337)	Atlas-SNP	.											.	ADAMDEC1	69	.	0			c.A831G						.						115.0	109.0	111.0					8																	24256455		2203	4300	6503	SO:0001583	missense	27299	exon9			TAAGATAAAGGTG	Y13323	CCDS6044.1, CCDS55212.1	8p12	2008-08-07			ENSG00000134028	ENSG00000134028			16299	protein-coding gene	gene with protein product		606393				9271581, 12037602	Standard	NM_001145271		Approved	M12.219	uc003xdz.2	O15204	OTTHUMG00000097858	ENST00000256412.4:c.831A>G	chr8.hg19:g.24256455A>G	ENSP00000256412:p.Ile277Met	227.0	0.0		115.0	93.0	NM_014479	B7ZAK5	Missense_Mutation	SNP	ENST00000256412.4	hg19	CCDS6044.1	.	.	.	.	.	.	.	.	.	.	A	13.89	2.372029	0.42003	.	.	ENSG00000134028	ENST00000256412;ENST00000538205;ENST00000522298	T;T;T	0.72167	-0.63;-0.63;-0.63	5.88	-11.8	0.00035	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.64402	D	0.000001	T	0.81791	0.4897	M	0.89658	3.05	0.23138	N	0.998235	D	0.76494	0.999	D	0.83275	0.996	T	0.82112	-0.0618	10	0.87932	D	0	-28.8524	17.4048	0.87470	0.1484:0.751:0.0:0.1006	.	277	O15204	ADEC1_HUMAN	M	277;198;198	ENSP00000256412:I277M;ENSP00000442592:I198M;ENSP00000428993:I198M	ENSP00000256412:I277M	I	+	3	3	ADAMDEC1	24312400	0.005000	0.15991	0.864000	0.33941	0.030000	0.12068	-0.595000	0.05727	-1.379000	0.02118	-1.243000	0.01532	ATA	.	.		0.448	ADAMDEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215149.2	NM_014479	
RAB11FIP1	80223	hgsc.bcm.edu	37	8	37729417	37729417	+	Missense_Mutation	SNP	T	T	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:37729417T>C	ENST00000330843.4	-	4	2915	c.2903A>G	c.(2902-2904)gAt>gGt	p.D968G	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	968					protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTTTCATCATCCGATGCGAC	0.453																																					p.D968G		Atlas-SNP	.											.	RAB11FIP1	105	.	0			c.A2903G						.						157.0	129.0	138.0					8																	37729417		2203	4300	6503	SO:0001583	missense	80223	exon4			TCATCATCCGATG	AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.2903A>G	chr8.hg19:g.37729417T>C	ENSP00000331342:p.Asp968Gly	292.0	0.0		106.0	6.0	NM_001002814	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	ENST00000330843.4	hg19	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.092374	0.76756	.	.	ENSG00000156675	ENST00000330843	T	0.32272	1.46	5.33	5.33	0.75918	.	0.000000	0.56097	D	0.000036	T	0.43188	0.1236	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.937	T	0.20806	-1.0264	10	0.34782	T	0.22	-15.5954	13.8876	0.63717	0.0:0.0:0.0:1.0	.	297;968	Q67C35;Q6WKZ4	.;RFIP1_HUMAN	G	968	ENSP00000331342:D968G	ENSP00000331342:D968G	D	-	2	0	RAB11FIP1	37848575	1.000000	0.71417	0.760000	0.31359	0.797000	0.45037	4.528000	0.60580	2.016000	0.59253	0.533000	0.62120	GAT	.	.		0.453	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1	NM_025151	
LRRC69	100130742	hgsc.bcm.edu	37	8	92201773	92201773	+	Silent	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:92201773A>G	ENST00000448384.2	+	6	675	c.675A>G	c.(673-675)gaA>gaG	p.E225E	LRRC69_ENST00000343709.3_Silent_p.E69E	NM_001129890.1	NP_001123362.1	Q6ZNQ3	LRC69_HUMAN	leucine rich repeat containing 69	225										endometrium(1)	1						AGCTGAGGGAATTCTACTGTG	0.378																																					p.E225E		Atlas-SNP	.											.	LRRC69	24	.	0			c.A675G						.						134.0	122.0	126.0					8																	92201773		692	1591	2283	SO:0001819	synonymous_variant	100130742	exon6			GAGGGAATTCTAC	AK130865		8q21.3	2010-07-14			ENSG00000214954	ENSG00000214954			34303	protein-coding gene	gene with protein product							Standard	NM_001129890		Approved		uc010mal.1	Q6ZNQ3	OTTHUMG00000164023	ENST00000448384.2:c.675A>G	chr8.hg19:g.92201773A>G		80.0	0.0		70.0	19.0	NM_001129890		Silent	SNP	ENST00000448384.2	hg19																																																																																				.	.		0.378	LRRC69-007	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000415207.1	NM_001129890	
LRP12	29967	hgsc.bcm.edu	37	8	105509410	105509410	+	Missense_Mutation	SNP	T	T	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:105509410T>G	ENST00000276654.5	-	5	1478	c.1370A>C	c.(1369-1371)cAt>cCt	p.H457P	LRP12_ENST00000518375.1_5'Flank|LRP12_ENST00000424843.2_Missense_Mutation_p.H438P	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	457	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			GTTTTTACAATGGAAATTTCC	0.423																																					p.H457P		Atlas-SNP	.											.	LRP12	124	.	0			c.A1370C						.						107.0	100.0	102.0					8																	105509410		2203	4300	6503	SO:0001583	missense	29967	exon5			TTACAATGGAAAT	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.1370A>C	chr8.hg19:g.105509410T>G	ENSP00000276654:p.His457Pro	155.0	0.0		96.0	13.0	NM_013437	A8K137|B4DRQ2	Missense_Mutation	SNP	ENST00000276654.5	hg19	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587574	0.66105	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000523007	D;D;D	0.95447	-3.71;-3.71;-3.71	5.79	4.64	0.57946	.	0.090349	0.85682	D	0.000000	D	0.93815	0.8022	L	0.39514	1.22	0.80722	D	1	P;P	0.50710	0.799;0.938	P;P	0.49140	0.466;0.601	D	0.92986	0.6410	10	0.59425	D	0.04	-29.021	11.6199	0.51111	0.0:0.0693:0.0:0.9307	.	438;457	Q9Y561-2;Q9Y561	.;LRP12_HUMAN	P	438;457;46	ENSP00000399148:H438P;ENSP00000276654:H457P;ENSP00000429305:H46P	ENSP00000276654:H457P	H	-	2	0	LRP12	105578586	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	8.040000	0.89188	1.027000	0.39758	0.455000	0.32223	CAT	.	.		0.423	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437	
SLC30A8	169026	hgsc.bcm.edu	37	8	118175765	118175766	+	Nonsense_Mutation	DNP	GG	GG	AT			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr8:118175765_118175766GG>AT	ENST00000456015.2	+	6	825_826	c.825_826GG>AT	c.(823-828)atGGaa>atATaa	p.275_276ME>I*	RN7SL826P_ENST00000479724.2_RNA|SLC30A8_ENST00000521243.1_Nonsense_Mutation_p.226_227ME>I*|SLC30A8_ENST00000427715.2_Nonsense_Mutation_p.226_227ME>I*|SLC30A8_ENST00000519688.1_Nonsense_Mutation_p.226_227ME>I*	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	275					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTTACTCATGGAAGGTAGGAG	0.416																																					p.M275I|p.E276X	Ovarian(162;1202 1922 6011 16223 52092)	Atlas-SNP	.											.	SLC30A8	102	.	0			c.G825A|c.G826T						.																																			SO:0001587	stop_gained	169026	exon6			ACTCATGGAAGGT|CTCATGGAAGGTA		CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	Exception_encountered	chr8.hg19:g.118175765_118175766delinsAT	ENSP00000415011:p.M275_E276delinsI*	68.0|67.0	0.0		42.0	22.0	NM_173851	A0AVP9|A5YM39|B4DPE0|Q8TCL3	Missense_Mutation|Nonsense_Mutation	SNP	ENST00000456015.2	hg19	CCDS6322.1																																																																																			.	.		0.416	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1	NM_173851	
CYLC2	1539	hgsc.bcm.edu	37	9	105767486	105767486	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr9:105767486A>T	ENST00000374798.3	+	5	643	c.573A>T	c.(571-573)aaA>aaT	p.K191N	CYLC2_ENST00000487798.1_Missense_Mutation_p.K191N	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	191	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ataacaaaaaagataaaaagg	0.358																																					p.K191N		Atlas-SNP	.											.	CYLC2	109	.	0			c.A573T						.						81.0	79.0	79.0					9																	105767486		2203	4300	6503	SO:0001583	missense	1539	exon5			CAAAAAAGATAAA	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.573A>T	chr9.hg19:g.105767486A>T	ENSP00000420256:p.Lys191Asn	130.0	0.0		166.0	44.0	NM_001340	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	ENST00000374798.3	hg19	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	A	10.39	1.336383	0.24253	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.20200	2.09;2.09	4.3	-0.829	0.10796	.	0.757856	0.11228	N	0.585908	T	0.36635	0.0974	M	0.77820	2.39	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.23368	-1.0190	10	0.72032	D	0.01	-1.1039	1.1135	0.01709	0.4985:0.1633:0.1898:0.1484	.	191	Q14093	CYLC2_HUMAN	N	191	ENSP00000420256:K191N;ENSP00000417674:K191N	ENSP00000420256:K191N	K	+	3	2	CYLC2	104807307	0.017000	0.18338	0.000000	0.03702	0.001000	0.01503	1.033000	0.30191	-0.017000	0.14103	-0.613000	0.04052	AAA	.	.		0.358	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
GARNL3	84253	hgsc.bcm.edu	37	9	130073954	130073954	+	Missense_Mutation	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr9:130073954G>A	ENST00000373387.4	+	3	611	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	GARNL3_ENST00000435213.2_Missense_Mutation_p.V65M|GARNL3_ENST00000314904.5_Missense_Mutation_p.V87M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	87					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						AAGAACAGACGTGCACTTAGA	0.413																																					p.V87M		Atlas-SNP	.											.	GARNL3	83	.	0			c.G259A						.						162.0	148.0	153.0					9																	130073954		2203	4300	6503	SO:0001583	missense	84253	exon3			ACAGACGTGCACT	BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.259G>A	chr9.hg19:g.130073954G>A	ENSP00000362485:p.Val87Met	143.0	0.0		186.0	23.0	NM_032293	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	ENST00000373387.4	hg19	CCDS6869.2	.	.	.	.	.	.	.	.	.	.	G	26.6	4.750394	0.89753	.	.	ENSG00000136895	ENST00000439286;ENST00000444677;ENST00000446764;ENST00000373399;ENST00000425970;ENST00000435213;ENST00000314904;ENST00000373387	T;T;T;D;D;D	0.88975	1.75;0.43;0.53;-2.45;-2.41;-2.45	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.92525	0.7626	M	0.64997	1.995	0.53005	D	0.999965	D;D	0.76494	0.999;0.999	P;P	0.62740	0.906;0.864	D	0.91781	0.5435	9	.	.	.	.	15.4761	0.75481	0.0:0.0:1.0:0.0	.	87;65	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	M	110;110;110;110;65;65;87;87	ENSP00000400579:V110M;ENSP00000411160:V110M;ENSP00000411329:V65M;ENSP00000396205:V65M;ENSP00000313970:V87M;ENSP00000362485:V87M	.	V	+	1	0	GARNL3	129113775	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	8.117000	0.89575	2.713000	0.92767	0.655000	0.94253	GTG	.	.		0.413	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054151.3	NM_032293	
NUP188	23511	hgsc.bcm.edu	37	9	131764256	131764256	+	Splice_Site	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr9:131764256G>A	ENST00000372577.2	+	36	4158		c.e36+1		RP11-167N5.5_ENST00000594418.1_lincRNA	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CACAGCACAGGTGAGTGTCAG	0.577																																					.		Atlas-SNP	.											NUP188,colon,carcinoma,0,1	NUP188	140	.	0			c.4137+1G>A						.						56.0	49.0	52.0					9																	131764256		2203	4300	6503	SO:0001630	splice_region_variant	23511	exon36			GCACAGGTGAGTG	D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.4137+1G>A	chr9.hg19:g.131764256G>A		134.0	0.0		49.0	7.0	NM_015354	Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Splice_Site	SNP	ENST00000372577.2	hg19	CCDS35156.1	.	.	.	.	.	.	.	.	.	.	G	16.19	3.053004	0.55218	.	.	ENSG00000095319	ENST00000356693;ENST00000372577	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1107	0.86674	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NUP188	130804077	1.000000	0.71417	1.000000	0.80357	0.506000	0.33950	8.617000	0.90927	2.619000	0.88677	0.462000	0.41574	.	.	.		0.577	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054529.2		Intron
ATP5C1	509	hgsc.bcm.edu	37	10	7839122	7839122	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr10:7839122A>G	ENST00000356708.7	+	3	283	c.204A>G	c.(202-204)atA>atG	p.I68M	ATP5C1_ENST00000493053.1_3'UTR|ATP5C1_ENST00000335698.4_Missense_Mutation_p.I68M|ATP5C1_ENST00000541227.1_Missense_Mutation_p.I21M	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	68					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CAGCTCGAATATATGGATTGG	0.388																																					p.I68M	Melanoma(143;1012 1820 16249 30920 33158)	Atlas-SNP	.											.	ATP5C1	32	.	0			c.A204G						.						64.0	63.0	63.0					10																	7839122		2203	4300	6503	SO:0001583	missense	509	exon3			TCGAATATATGGA	D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.204A>G	chr10.hg19:g.7839122A>G	ENSP00000349142:p.Ile68Met	88.0	0.0		93.0	28.0	NM_001001973	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	ENST00000356708.7	hg19	CCDS31142.1	.	.	.	.	.	.	.	.	.	.	A	6.042	0.376011	0.11466	.	.	ENSG00000165629	ENST00000356708;ENST00000335698;ENST00000541227	.	.	.	5.17	-4.02	0.04034	ATPase, F1 complex, gamma subunit domain (1);	0.168378	0.51477	D	0.000092	T	0.22322	0.0538	L	0.31926	0.97	0.23150	N	0.99822	B	0.12013	0.005	B	0.16722	0.016	T	0.07195	-1.0785	9	0.59425	D	0.04	-9.3782	2.2673	0.04082	0.2011:0.2738:0.3597:0.1654	.	68	P36542	ATPG_HUMAN	M	68;68;21	.	ENSP00000338568:I68M	I	+	3	3	ATP5C1	7879128	0.191000	0.23288	0.819000	0.32651	0.138000	0.21146	-0.484000	0.06528	-0.563000	0.06078	-0.912000	0.02778	ATA	.	.		0.388	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046708.1	NM_005174	
TAF3	83860	hgsc.bcm.edu	37	10	8006085	8006085	+	Silent	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr10:8006085G>T	ENST00000344293.5	+	3	818	c.612G>T	c.(610-612)acG>acT	p.T204T		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	204					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGGGGACACGCTAGATGTTG	0.478																																					p.T204T		Atlas-SNP	.											TAF3,NS,carcinoma,0,1	TAF3	93	.	0			c.G612T						.						83.0	83.0	83.0					10																	8006085		1942	4143	6085	SO:0001819	synonymous_variant	83860	exon3			GGACACGCTAGAT	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.612G>T	chr10.hg19:g.8006085G>T		270.0	2.0		144.0	51.0	NM_031923	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	hg19	CCDS41487.1																																																																																			.	.		0.478	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923	
MSMB	4477	hgsc.bcm.edu	37	10	51562361	51562361	+	Silent	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr10:51562361C>T	ENST00000358559.2	+	4	393	c.306C>T	c.(304-306)gaC>gaT	p.D102D	NCOA4_ENST00000430396.2_5'Flank|NCOA4_ENST00000452682.1_5'Flank|NCOA4_ENST00000414907.2_5'Flank|NCOA4_ENST00000438493.1_5'Flank|MSMB_ENST00000298239.6_Missense_Mutation_p.T67I|NCOA4_ENST00000374087.4_5'Flank	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	102						extracellular space (GO:0005615)|nucleus (GO:0005634)				lung(4)|ovary(2)|prostate(1)	7						AGAAGAAGGACCCAAAAAAGA	0.463																																					p.T67I		Atlas-SNP	.											.	MSMB	16	.	0			c.C200T						.						185.0	161.0	169.0					10																	51562361		2203	4300	6503	SO:0001819	synonymous_variant	4477	exon3			GAAGGACCCAAAA	BC005257	CCDS73095.1, CCDS73096.1	10q11.2	2014-05-06			ENSG00000138294	ENSG00000263639			7372	protein-coding gene	gene with protein product		157145				1783399	Standard	NM_002443		Approved	PSP-94, PSP57, PSP94, IGBF, MSP, MSPB, PN44, PRPS, PSP	uc001jiq.3	P08118	OTTHUMG00000188315	ENST00000358559.2:c.306C>T	chr10.hg19:g.51562361C>T		101.0	0.0		98.0	7.0	NM_138634	B1API6|P11999|Q13125|Q6IAY9|Q9UC59	Missense_Mutation	SNP	ENST00000358559.2	hg19	CCDS7235.1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942139	0.53079	.	.	ENSG00000138294	ENST00000298239	T	0.24151	1.87	4.18	3.28	0.37604	.	.	.	.	.	T	0.33352	0.0860	.	.	.	0.09310	N	0.999999	D	0.59357	0.985	P	0.52066	0.689	T	0.10660	-1.0620	8	0.87932	D	0	-15.5935	8.0565	0.30608	0.0:0.891:0.0:0.109	.	67	P08118-2	.	I	67	ENSP00000298239:T67I	ENSP00000298239:T67I	T	+	2	0	MSMB	51232367	0.022000	0.18835	0.385000	0.26158	0.038000	0.13279	0.518000	0.22847	1.362000	0.46000	0.650000	0.86243	ACC	.	.		0.463	MSMB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048034.1	NM_002443, NM_138634	
PCDH15	65217	hgsc.bcm.edu	37	10	55955547	55955547	+	Missense_Mutation	SNP	G	G	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr10:55955547G>C	ENST00000320301.6	-	11	1595	c.1201C>G	c.(1201-1203)Caa>Gaa	p.Q401E	PCDH15_ENST00000414778.1_Missense_Mutation_p.Q406E|PCDH15_ENST00000395430.1_Missense_Mutation_p.Q401E|PCDH15_ENST00000409834.1_Missense_Mutation_p.Q5E|PCDH15_ENST00000437009.1_Missense_Mutation_p.Q401E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.Q401E|PCDH15_ENST00000373965.2_Missense_Mutation_p.Q401E|PCDH15_ENST00000395445.1_Missense_Mutation_p.Q401E|PCDH15_ENST00000373957.3_Missense_Mutation_p.Q379E|PCDH15_ENST00000395446.1_Missense_Mutation_p.Q401E|PCDH15_ENST00000395440.1_Missense_Mutation_p.Q401E|PCDH15_ENST00000361849.3_Missense_Mutation_p.Q401E|PCDH15_ENST00000395432.2_Missense_Mutation_p.Q364E|PCDH15_ENST00000395433.1_Missense_Mutation_p.Q379E|PCDH15_ENST00000373955.1_Missense_Mutation_p.Q401E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	401	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ATATAGCCTTGATAACTGGGC	0.423										HNSCC(58;0.16)																											p.Q406E		Atlas-SNP	.											.	PCDH15	1715	.	0			c.C1216G						.						149.0	137.0	141.0					10																	55955547		2203	4300	6503	SO:0001583	missense	65217	exon12			AGCCTTGATAACT	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.1201C>G	chr10.hg19:g.55955547G>C	ENSP00000322604:p.Gln401Glu	139.0	0.0		89.0	45.0	NM_001142763	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	hg19	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	5.938	0.357123	0.11239	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395446;ENST00000395440;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000373957;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009;ENST00000373955	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.59772	0.24;0.24;0.24;0.6;0.24;0.24;0.36;0.24;0.24;0.24;0.24;0.24;0.24;0.24;0.24	5.17	4.21	0.49690	Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.39462	0.1079	N	0.15975	0.35	0.28074	N	0.932458	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.24426	0.093;0.048;0.021;0.024;0.057;0.103;0.093;0.002;0.005;0.005;0.002;0.002;0.003;0.002;0.048	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26864	0.047;0.023;0.015;0.015;0.074;0.023;0.047;0.005;0.015;0.015;0.005;0.005;0.003;0.008;0.015	T	0.08953	-1.0697	9	0.09590	T	0.72	.	14.2196	0.65818	0.0:0.2383:0.7617:0.0	.	379;401;401;406;401;364;401;401;401;401;401;406;401;379;401	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1-3;A2A3D8;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	401;406;401;401;5;401;401;401;364;401;379;379;401;401;406;401;401	ENSP00000363076:Q401E;ENSP00000410304:Q406E;ENSP00000378826:Q401E;ENSP00000386693:Q5E;ENSP00000378832:Q401E;ENSP00000378833:Q401E;ENSP00000378827:Q401E;ENSP00000378820:Q364E;ENSP00000354950:Q401E;ENSP00000378821:Q379E;ENSP00000363068:Q379E;ENSP00000322604:Q401E;ENSP00000378818:Q401E;ENSP00000412628:Q401E;ENSP00000363066:Q401E	ENSP00000322604:Q401E	Q	-	1	0	PCDH15	55625553	1.000000	0.71417	1.000000	0.80357	0.614000	0.37383	5.246000	0.65411	2.426000	0.82243	0.591000	0.81541	CAA	.	.		0.423	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056	
SORCS3	22986	hgsc.bcm.edu	37	10	106959827	106959827	+	Missense_Mutation	SNP	C	C	T	rs202188584		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr10:106959827C>T	ENST00000369701.3	+	15	2307	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	SORCS3_ENST00000369699.4_5'UTR	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	694					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)	p.R694W(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATCTTCAGCCGGCATTGCAC	0.532																																					p.R694W	NSCLC(116;1497 1690 7108 13108 14106)	Atlas-SNP	.											SORCS3,colon,carcinoma,0,2	SORCS3	282	.	1	Substitution - Missense(1)	prostate(1)	c.C2080T						.						130.0	117.0	121.0					10																	106959827		2203	4300	6503	SO:0001583	missense	22986	exon15			TTCAGCCGGCATT	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2080C>T	chr10.hg19:g.106959827C>T	ENSP00000358715:p.Arg694Trp	218.0	0.0		76.0	27.0	NM_014978	Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	hg19	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181442	0.78677	.	.	ENSG00000156395	ENST00000369701	T	0.29655	1.56	6.07	4.23	0.50019	VPS10 (1);	0.057204	0.64402	N	0.000002	T	0.58666	0.2138	M	0.91406	3.205	0.49798	D	0.999822	D	0.89917	1.0	D	0.68621	0.959	T	0.63435	-0.6638	9	.	.	.	.	8.3777	0.32453	0.1237:0.759:0.0:0.1173	.	694	Q9UPU3	SORC3_HUMAN	W	694	ENSP00000358715:R694W	.	R	+	1	2	SORCS3	106949817	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.203000	0.32284	0.903000	0.36546	0.650000	0.86243	CGG	.	.		0.532	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978	
OR51G1	79324	hgsc.bcm.edu	37	11	4944787	4944787	+	Silent	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr11:4944787A>G	ENST00000321961.2	-	1	850	c.783T>C	c.(781-783)tcT>tcC	p.S261S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATGCACAAGAGACAAGCCAA	0.517																																					p.S261S		Atlas-SNP	.											OR51G1,NS,carcinoma,0,1	OR51G1	74	.	0			c.T783C						.						187.0	145.0	159.0					11																	4944787		2201	4298	6499	SO:0001819	synonymous_variant	79324	exon1			CACAAGAGACAAG	AB065793	CCDS31366.1	11p15.4	2012-08-09			ENSG00000176879	ENSG00000176879		"""GPCR / Class A : Olfactory receptors"""	14738	protein-coding gene	gene with protein product				OR51G3P			Standard	NM_001005237		Approved		uc010qyr.2	Q8NGK1	OTTHUMG00000066532	ENST00000321961.2:c.783T>C	chr11.hg19:g.4944787A>G		199.0	0.0		113.0	9.0	NM_001005237	B9EGW8|Q6IFH6	Silent	SNP	ENST00000321961.2	hg19	CCDS31366.1																																																																																			.	.		0.517	OR51G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142345.1	NM_001005237	
SLC17A6	57084	hgsc.bcm.edu	37	11	22380967	22380967	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr11:22380967G>T	ENST00000263160.3	+	4	904	c.467G>T	c.(466-468)gGa>gTa	p.G156V	CTD-2140G10.4_ENST00000534543.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	156					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AGGGTTTTCGGAGCTGCCATA	0.363																																					p.G156V		Atlas-SNP	.											.	SLC17A6	135	.	0			c.G467T						.						112.0	102.0	106.0					11																	22380967		2203	4300	6503	SO:0001583	missense	57084	exon4			TTTTCGGAGCTGC	AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.467G>T	chr11.hg19:g.22380967G>T	ENSP00000263160:p.Gly156Val	102.0	0.0		94.0	11.0	NM_020346	A6NKS2	Missense_Mutation	SNP	ENST00000263160.3	hg19	CCDS7856.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.546401	0.86022	.	.	ENSG00000091664	ENST00000263160;ENST00000546171	T	0.55413	0.52	5.29	5.29	0.74685	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.72153	0.3425	M	0.73753	2.245	0.80722	D	1	P	0.51147	0.942	P	0.62298	0.9	T	0.73895	-0.3838	10	0.59425	D	0.04	.	19.2877	0.94085	0.0:0.0:1.0:0.0	.	156	Q9P2U8	VGLU2_HUMAN	V	156;44	ENSP00000263160:G156V	ENSP00000263160:G156V	G	+	2	0	SLC17A6	22337543	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.476000	0.97823	2.638000	0.89438	0.585000	0.79938	GGA	.	.		0.363	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387671.1	NM_020346	
CUL5	8065	hgsc.bcm.edu	37	11	107920728	107920728	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr11:107920728A>T	ENST00000393094.2	+	4	962	c.346A>T	c.(346-348)Att>Ttt	p.I116F		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	116					calcium ion transmembrane transport (GO:0070588)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cytosolic calcium ion homeostasis (GO:0051480)|G1/S transition of mitotic cell cycle (GO:0000082)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|response to osmotic stress (GO:0006970)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|receptor activity (GO:0004872)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TCAACTAGAGATTACTTTAAT	0.328																																					p.I116F		Atlas-SNP	.											.	CUL5	71	.	0			c.A346T						.						79.0	81.0	80.0					11																	107920728		2201	4298	6499	SO:0001583	missense	8065	exon4			CTAGAGATTACTT	X81882	CCDS31668.1	11q22.3	2011-05-24			ENSG00000166266	ENSG00000166266			2556	protein-coding gene	gene with protein product		601741				8681378, 9037604	Standard	XM_005271682		Approved	VACM-1	uc001pjv.3	Q93034	OTTHUMG00000166369	ENST00000393094.2:c.346A>T	chr11.hg19:g.107920728A>T	ENSP00000376808:p.Ile116Phe	113.0	0.0		124.0	11.0	NM_003478	A8K960|O14766|Q9BZC6	Missense_Mutation	SNP	ENST00000393094.2	hg19	CCDS31668.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.264608	0.59431	.	.	ENSG00000166266	ENST00000393094	T	0.29397	1.57	5.83	4.71	0.59529	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.049975	0.85682	D	0.000000	T	0.21347	0.0514	N	0.14661	0.345	0.58432	D	0.999998	B	0.28378	0.209	B	0.33392	0.163	T	0.07252	-1.0782	10	0.72032	D	0.01	-10.0695	11.0632	0.47959	0.9269:0.0:0.0731:0.0	.	116	Q93034	CUL5_HUMAN	F	116	ENSP00000376808:I116F	ENSP00000376808:I116F	I	+	1	0	CUL5	107425938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.054000	0.76649	1.056000	0.40484	0.533000	0.62120	ATT	.	.		0.328	CUL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389429.1		
ZNF202	7753	hgsc.bcm.edu	37	11	123601551	123601551	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr11:123601551C>T	ENST00000529691.1	-	2	265	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF202_ENST00000336139.4_Missense_Mutation_p.E16K|ZNF202_ENST00000530393.1_Missense_Mutation_p.E16K			O95125	ZN202_HUMAN	zinc finger protein 202	16					lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		AGAATTCCCTCTTCTTCCCAA	0.522																																					p.E16K		Atlas-SNP	.											.	ZNF202	72	.	0			c.G46A						.						90.0	93.0	92.0					11																	123601551		2202	4299	6501	SO:0001583	missense	7753	exon4			TTCCCTCTTCTTC	AF027219	CCDS8443.1	11q23.3	2013-01-09				ENSG00000166261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12994	protein-coding gene	gene with protein product		603430				9790754	Standard	XM_005271659		Approved	ZKSCAN10, ZSCAN42	uc001pzd.1	O95125		ENST00000529691.1:c.46G>A	chr11.hg19:g.123601551C>T	ENSP00000433881:p.Glu16Lys	168.0	0.0		96.0	21.0	NM_003455	B0LPH9|Q4JG21|Q9H1B9|Q9NSM4	Missense_Mutation	SNP	ENST00000529691.1	hg19	CCDS8443.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532450	0.85812	.	.	ENSG00000166261	ENST00000336139;ENST00000530393;ENST00000529691;ENST00000533463;ENST00000528306	T;T;T;T	0.07114	3.22;3.22;3.22;3.26	4.7	4.7	0.59300	.	0.000000	0.49916	D	0.000132	T	0.12092	0.0294	N	0.08118	0	0.38108	D	0.937467	D	0.63880	0.993	D	0.68192	0.956	T	0.30416	-0.9979	10	0.72032	D	0.01	-21.7671	13.0223	0.58796	0.0:1.0:0.0:0.0	.	16	O95125	ZN202_HUMAN	K	16	ENSP00000337724:E16K;ENSP00000432504:E16K;ENSP00000433881:E16K;ENSP00000431223:E16K	ENSP00000337724:E16K	E	-	1	0	ZNF202	123106761	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.368000	0.44222	2.438000	0.82558	0.555000	0.69702	GAG	.	.		0.522	ZNF202-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387419.1	NM_003455	
TAS2R10	50839	hgsc.bcm.edu	37	12	10978718	10978718	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:10978718C>T	ENST00000240619.2	-	1	239	c.151G>A	c.(151-153)Gct>Act	p.A51T		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	51					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTTGAAATAGCTAAGCCGGTG	0.338																																					p.A51T		Atlas-SNP	.											.	TAS2R10	44	.	0			c.G151A						.						51.0	51.0	51.0					12																	10978718		2203	4300	6503	SO:0001583	missense	50839	exon1			AAATAGCTAAGCC	AF227136	CCDS8634.1	12p13	2012-08-22			ENSG00000121318	ENSG00000121318		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14918	protein-coding gene	gene with protein product		604791				10761934, 10766242	Standard	NM_023921		Approved	T2R10, TRB2	uc001qyy.1	Q9NYW0	OTTHUMG00000168508	ENST00000240619.2:c.151G>A	chr12.hg19:g.10978718C>T	ENSP00000240619:p.Ala51Thr	98.0	0.0		91.0	35.0	NM_023921	Q3MIM9|Q6NTD9	Missense_Mutation	SNP	ENST00000240619.2	hg19	CCDS8634.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.734965	0.69189	.	.	ENSG00000121318	ENST00000240619	T	0.56103	0.48	4.34	3.42	0.39159	.	0.175500	0.34133	N	0.004233	T	0.78541	0.4299	H	0.96365	3.81	0.29517	N	0.85379	D	0.67145	0.996	D	0.71656	0.974	T	0.78135	-0.2322	10	0.87932	D	0	.	11.3133	0.49377	0.1834:0.8166:0.0:0.0	.	51	Q9NYW0	T2R10_HUMAN	T	51	ENSP00000240619:A51T	ENSP00000240619:A51T	A	-	1	0	TAS2R10	10869985	0.009000	0.17119	0.947000	0.38551	0.833000	0.47200	0.388000	0.20735	1.113000	0.41760	0.591000	0.81541	GCT	.	.		0.338	TAS2R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399934.1		
EPS8	2059	hgsc.bcm.edu	37	12	15813579	15813579	+	Silent	SNP	T	T	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:15813579T>C	ENST00000281172.5	-	10	1342	c.906A>G	c.(904-906)aaA>aaG	p.K302K	EPS8_ENST00000543612.1_Silent_p.K302K|EPS8_ENST00000542903.1_Silent_p.K42K|EPS8_ENST00000543523.1_Silent_p.K302K|EPS8_ENST00000540613.1_Silent_p.K42K	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	302					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CTTTCTTGTTTTTCTTCCTTT	0.383																																					p.K302K		Atlas-SNP	.											.	EPS8	70	.	0			c.A906G						.						114.0	110.0	111.0					12																	15813579		2203	4300	6503	SO:0001819	synonymous_variant	2059	exon10			CTTGTTTTTCTTC	U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.906A>G	chr12.hg19:g.15813579T>C		71.0	0.0		75.0	15.0	NM_004447	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Silent	SNP	ENST00000281172.5	hg19	CCDS31753.1																																																																																			.	.		0.383	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1		
ZFC3H1	196441	hgsc.bcm.edu	37	12	72017915	72017915	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:72017915C>T	ENST00000378743.3	-	23	4833	c.4475G>A	c.(4474-4476)gGa>gAa	p.G1492E		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1492					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGGCATCTTCCAGTAAATAT	0.393																																					p.G1492E		Atlas-SNP	.											.	ZFC3H1	172	.	0			c.G4475A						.						169.0	161.0	163.0					12																	72017915		1841	4090	5931	SO:0001583	missense	196441	exon23			CATCTTCCAGTAA	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.4475G>A	chr12.hg19:g.72017915C>T	ENSP00000368017:p.Gly1492Glu	59.0	0.0		80.0	5.0	NM_144982	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	hg19	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791081	0.90367	.	.	ENSG00000133858	ENST00000378743	T	0.33216	1.42	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.48696	0.1514	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.47129	-0.9141	10	0.62326	D	0.03	.	19.1586	0.93522	0.0:1.0:0.0:0.0	.	1492	O60293	ZC3H1_HUMAN	E	1492	ENSP00000368017:G1492E	ENSP00000368017:G1492E	G	-	2	0	ZFC3H1	70304182	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.907000	0.75724	2.520000	0.84964	0.655000	0.94253	GGA	.	.		0.393	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982	
TMTC2	160335	hgsc.bcm.edu	37	12	83290361	83290361	+	Silent	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:83290361G>A	ENST00000321196.3	+	3	2126	c.1419G>A	c.(1417-1419)agG>agA	p.R473R	TMTC2_ENST00000549919.1_Silent_p.R467R|TMTC2_ENST00000548305.1_Silent_p.R473R	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	473					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTGCGATCAGGAATGGAGACT	0.373																																					p.R473R		Atlas-SNP	.											.	TMTC2	100	.	0			c.G1419A						.						66.0	63.0	64.0					12																	83290361		2203	4300	6503	SO:0001819	synonymous_variant	160335	exon3			GATCAGGAATGGA	AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.1419G>A	chr12.hg19:g.83290361G>A		60.0	0.0		124.0	17.0	NM_152588	B2RCU7|Q8N2K8	Silent	SNP	ENST00000321196.3	hg19	CCDS9025.1																																																																																			.	.		0.373	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405663.1	NM_152588	
ACACB	32	hgsc.bcm.edu	37	12	109629713	109629713	+	Missense_Mutation	SNP	T	T	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:109629713T>A	ENST00000338432.7	+	15	2476	c.2357T>A	c.(2356-2358)aTg>aAg	p.M786K	ACACB_ENST00000377854.5_Missense_Mutation_p.M786K|ACACB_ENST00000377848.3_Missense_Mutation_p.M786K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	786					acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GCCGATGCGATGTTCAGAACG	0.527																																					p.M786K		Atlas-SNP	.											.	ACACB	330	.	0			c.T2357A						.						140.0	117.0	125.0					12																	109629713		2203	4300	6503	SO:0001583	missense	32	exon14			ATGCGATGTTCAG	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.2357T>A	chr12.hg19:g.109629713T>A	ENSP00000341044:p.Met786Lys	242.0	0.0		187.0	35.0	NM_001093	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	hg19	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	T	8.773	0.926303	0.18056	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	D;D;D	0.95001	-3.56;-3.56;-3.58	5.32	2.91	0.33838	.	0.428494	0.29106	N	0.013140	T	0.80639	0.4661	N	0.03608	-0.345	0.58432	D	0.999999	B	0.13594	0.008	B	0.12156	0.007	T	0.65154	-0.6237	10	0.13853	T	0.58	.	1.0907	0.01662	0.1633:0.1474:0.1703:0.519	.	786	O00763	ACACB_HUMAN	K	786;786;786;17	ENSP00000341044:M786K;ENSP00000367079:M786K;ENSP00000367085:M786K	ENSP00000341044:M786K	M	+	2	0	ACACB	108114096	0.280000	0.24249	0.464000	0.27143	0.946000	0.59487	0.601000	0.24119	0.322000	0.23283	-0.354000	0.07668	ATG	.	.		0.527	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093	
OAS2	4939	hgsc.bcm.edu	37	12	113444385	113444385	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:113444385G>T	ENST00000342315.4	+	8	1850	c.1636G>T	c.(1636-1638)Gtg>Ttg	p.V546L	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.V546L	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	546	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AATTCGCCTGGTGAAGCACTG	0.478																																					p.V546L	Pancreas(199;709 2232 18410 33584 35052)	Atlas-SNP	.											.	OAS2	86	.	0			c.G1636T						.						114.0	114.0	114.0					12																	113444385		2203	4300	6503	SO:0001583	missense	4939	exon8			CGCCTGGTGAAGC	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1636G>T	chr12.hg19:g.113444385G>T	ENSP00000342278:p.Val546Leu	132.0	0.0		118.0	43.0	NM_002535	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	hg19	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	12.62	1.992513	0.35131	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.58940	0.3;0.3	4.62	-0.611	0.11601	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	0.965401	0.08458	N	0.942784	T	0.52075	0.1712	M	0.71871	2.18	0.80722	D	1	B;B	0.22683	0.073;0.043	B;B	0.20184	0.028;0.012	T	0.51309	-0.8722	10	0.62326	D	0.03	-34.4184	4.4805	0.11764	0.3754:0.1605:0.4641:0.0	.	546;546	P29728;P29728-2	OAS2_HUMAN;.	L	546	ENSP00000342278:V546L;ENSP00000376362:V546L	ENSP00000342278:V546L	V	+	1	0	OAS2	111928768	1.000000	0.71417	0.976000	0.42696	0.690000	0.40134	0.806000	0.27126	-0.048000	0.13401	-0.140000	0.14226	GTG	.	.		0.478	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1		
TBX3	6926	hgsc.bcm.edu	37	12	115118767	115118767	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:115118767C>A	ENST00000257566.3	-	2	963	c.574G>T	c.(574-576)Gct>Tct	p.A192S	TBX3_ENST00000349155.2_Missense_Mutation_p.A192S	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	192					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		TCCCCAGTAGCGGGGCTGTCC	0.463																																					p.A192S		Atlas-SNP	.											.	TBX3	106	.	0			c.G574T						.						112.0	108.0	109.0					12																	115118767		2203	4300	6503	SO:0001583	missense	6926	exon2			CAGTAGCGGGGCT	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.574G>T	chr12.hg19:g.115118767C>A	ENSP00000257566:p.Ala192Ser	368.0	1.0		299.0	113.0	NM_005996	Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	hg19	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	32	5.174696	0.94807	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88046	-2.33;-2.33	5.81	5.81	0.92471	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.90335	0.6976	L	0.33137	0.985	0.80722	D	1	B;P;D	0.64830	0.221;0.856;0.994	P;P;D	0.87578	0.581;0.86;0.998	D	0.88813	0.3293	10	0.35671	T	0.21	.	19.0715	0.93140	0.0:1.0:0.0:0.0	.	192;192;192	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	S	192	ENSP00000257567:A192S;ENSP00000257566:A192S	ENSP00000257566:A192S	A	-	1	0	TBX3	113603150	1.000000	0.71417	0.504000	0.27639	0.962000	0.63368	7.487000	0.81328	2.756000	0.94617	0.655000	0.94253	GCT	.	.		0.463	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	
CIT	11113	hgsc.bcm.edu	37	12	120222843	120222843	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr12:120222843G>T	ENST00000261833.7	-	11	1374	c.1322C>A	c.(1321-1323)cCt>cAt	p.P441H	CIT_ENST00000392521.2_Missense_Mutation_p.P441H|CIT_ENST00000537607.1_5'Flank	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	441					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		AGTCTTGGCAGGGGAGTCCAG	0.498																																					p.P441H		Atlas-SNP	.											.	CIT	535	.	0			c.C1322A						.						93.0	83.0	86.0					12																	120222843		2203	4300	6503	SO:0001583	missense	11113	exon11			TTGGCAGGGGAGT	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.1322C>A	chr12.hg19:g.120222843G>T	ENSP00000261833:p.Pro441His	149.0	0.0		107.0	5.0	NM_001206999	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	hg19	CCDS9192.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.174650|4.174650	0.78452|0.78452	.|.	.|.	ENSG00000122966|ENSG00000122966	ENST00000392520|ENST00000392521;ENST00000261833	.|T;T	.|0.64438	.|-0.1;-0.09	5.84|5.84	5.84|5.84	0.93424|0.93424	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.69106|0.69106	0.3074|0.3074	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|D;D	.|0.63880	.|0.993;0.988	.|D;P	.|0.68943	.|0.961;0.887	T|T	0.72211|0.72211	-0.4359|-0.4359	5|10	.|0.66056	.|D	.|0.02	.|.	20.1379|20.1379	0.98040|0.98040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|441;441	.|Q2M5E1;O14578	.|.;CTRO_HUMAN	M|H	69|441	.|ENSP00000376306:P441H;ENSP00000261833:P441H	.|ENSP00000261833:P441H	L|P	-|-	1|2	2|0	CIT|CIT	118707226|118707226	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.779000|2.779000	0.95612|0.95612	0.655000|0.655000	0.94253|0.94253	CTG|CCT	.	.		0.498	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174	
FREM2	341640	hgsc.bcm.edu	37	13	39266353	39266353	+	Silent	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr13:39266353C>A	ENST00000280481.7	+	1	5088	c.4872C>A	c.(4870-4872)acC>acA	p.T1624T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1624					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTGATGGCACCCATACAGACT	0.428																																					p.T1624T		Atlas-SNP	.											.	FREM2	385	.	0			c.C4872A						.						105.0	102.0	103.0					13																	39266353		2203	4300	6503	SO:0001819	synonymous_variant	341640	exon1			TGGCACCCATACA	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.4872C>A	chr13.hg19:g.39266353C>A		204.0	0.0		111.0	22.0	NM_207361	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	ENST00000280481.7	hg19	CCDS31960.1																																																																																			.	.		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361	
OXA1L	5018	hgsc.bcm.edu	37	14	23235798	23235798	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr14:23235798C>T	ENST00000285848.5	+	1	68	c.68C>T	c.(67-69)cCg>cTg	p.P23L	OXA1L_ENST00000604262.1_5'Flank|CTD-2555K7.2_ENST00000554857.1_RNA|CTD-2555K7.2_ENST00000553792.1_RNA|OXA1L_ENST00000412791.1_5'Flank|OXA1L_ENST00000358043.5_5'Flank|CTD-2555K7.2_ENST00000554730.1_RNA	NM_005015.3	NP_005006.3	Q15070	OXA1L_HUMAN	oxidase (cytochrome c) assembly 1-like	0					aerobic respiration (GO:0009060)|mitochondrial proton-transporting ATP synthase complex assembly (GO:0033615)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex I biogenesis (GO:0097031)|negative regulation of ATPase activity (GO:0032780)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|protein complex assembly (GO:0006461)|protein insertion into membrane (GO:0051205)|protein tetramerization (GO:0051262)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	mitochondrial ribosome binding (GO:0097177)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		TCTCTTTTACCGCCTGATCTG	0.502																																					p.P23L		Atlas-SNP	.											.	OXA1L	49	.	0			c.C68T						.						114.0	120.0	118.0					14																	23235798		2203	4300	6503	SO:0001583	missense	5018	exon1			TTTTACCGCCTGA		CCDS9573.1	14q11.2	2009-05-26			ENSG00000155463	ENSG00000155463			8526	protein-coding gene	gene with protein product		601066				8586451, 19349278	Standard	NM_005015		Approved	MGC133129, OXA1	uc001wgn.2	Q15070	OTTHUMG00000028691	ENST00000285848.5:c.68C>T	chr14.hg19:g.23235798C>T	ENSP00000285848:p.Pro23Leu	195.0	0.0		84.0	4.0	NM_005015	B4DPA2	Missense_Mutation	SNP	ENST00000285848.5	hg19	CCDS9573.1	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949540	0.53186	.	.	ENSG00000155463	ENST00000285848	T	0.38560	1.13	4.67	-0.937	0.10415	.	.	.	.	.	T	0.18002	0.0432	N	0.08118	0	0.19575	N	0.999964	B	0.12013	0.005	B	0.06405	0.002	T	0.20907	-1.0261	9	0.87932	D	0	-2.781	0.6373	0.00804	0.3124:0.3264:0.173:0.1883	.	23	Q2M1J6	.	L	23	ENSP00000285848:P23L	ENSP00000285848:P23L	P	+	2	0	OXA1L	22305638	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.524000	0.06222	-0.063000	0.13065	-0.182000	0.12963	CCG	.	.		0.502	OXA1L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000071630.2	NM_005015	
SRSF5	6430	hgsc.bcm.edu	37	14	70237779	70237779	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr14:70237779A>T	ENST00000553521.1	+	8	1961	c.508A>T	c.(508-510)Aat>Tat	p.N170Y	SRSF5_ENST00000557154.1_Missense_Mutation_p.N170Y|SRSF5_ENST00000394366.2_Missense_Mutation_p.N170Y|SRSF5_ENST00000553635.1_Missense_Mutation_p.N167Y|SRSF5_ENST00000556587.1_3'UTR			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	170	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AAAGGAAATAAATGGGAGAAA	0.313																																					p.N170Y		Atlas-SNP	.											.	SRSF5	45	.	0			c.A508T						.						91.0	95.0	94.0					14																	70237779		2203	4300	6503	SO:0001583	missense	6430	exon7			GAAATAAATGGGA	AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.508A>T	chr14.hg19:g.70237779A>T	ENSP00000452123:p.Asn170Tyr	84.0	0.0		92.0	46.0	NM_001039465	O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	ENST00000553521.1	hg19	CCDS32109.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.069402	0.76301	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000557154;ENST00000553635	T;T;T;T	0.17854	2.25;2.25;2.25;2.25	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.41858	0.1177	M	0.71036	2.16	0.80722	D	1	P;D	0.76494	0.539;0.999	B;D	0.72982	0.281;0.979	T	0.19257	-1.0311	10	0.48119	T	0.1	.	16.1021	0.81178	1.0:0.0:0.0:0.0	.	167;170	Q13243-3;Q13243	.;SRSF5_HUMAN	Y	170;170;170;167	ENSP00000452123:N170Y;ENSP00000377892:N170Y;ENSP00000451088:N170Y;ENSP00000451391:N167Y	ENSP00000377892:N170Y	N	+	1	0	SRSF5	69307532	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.060000	0.93907	2.210000	0.71456	0.533000	0.62120	AAT	.	.		0.313	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412456.1	NM_001039465	
TRIP11	9321	hgsc.bcm.edu	37	14	92436115	92436115	+	Missense_Mutation	SNP	G	G	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr14:92436115G>C	ENST00000267622.4	-	21	6215	c.5842C>G	c.(5842-5844)Ctg>Gtg	p.L1948V		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1948					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATGGGTTTCAGAAGAAGATGC	0.483			T	PDGFRB	AML																																p.L1948V	Ovarian(84;609 1888 9852 42686)	Atlas-SNP	.		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	.	TRIP11	184	.	0			c.C5842G						.						69.0	72.0	71.0					14																	92436115		2203	4300	6503	SO:0001583	missense	9321	exon21			GTTTCAGAAGAAG	L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5842C>G	chr14.hg19:g.92436115G>C	ENSP00000267622:p.Leu1948Val	270.0	0.0		221.0	9.0	NM_004239	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	hg19	CCDS9899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.062776|3.062776	0.55432|0.55432	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.05717|.	3.4|.	5.78|5.78	-11.3|-11.3	0.00108|0.00108	.|.	0.047609|.	0.85682|.	D|.	0.000000|.	T|T	0.44138|0.44138	0.1279|0.1279	L|L	0.53249|0.53249	1.67|1.67	0.28291|0.28291	N|N	0.92355|0.92355	P;P|.	0.43024|.	0.775;0.798|.	B;P|.	0.47134|.	0.266;0.539|.	T|T	0.52426|0.52426	-0.8577|-0.8577	10|5	0.66056|.	D|.	0.02|.	.|.	14.066|14.066	0.64828|0.64828	0.1566:0.0:0.6817:0.1617|0.1566:0.0:0.6817:0.1617	.|.	1684;1948|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	V|C	1948;1684|1663	ENSP00000267622:L1948V|.	ENSP00000267622:L1948V|.	L|S	-|-	1|2	2|0	TRIP11|TRIP11	91505868|91505868	0.998000|0.998000	0.40836|0.40836	0.012000|0.012000	0.15200|0.15200	0.400000|0.400000	0.30750|0.30750	1.281000|1.281000	0.33214|0.33214	-1.792000|-1.792000	0.01259|0.01259	-0.253000|-0.253000	0.11424|0.11424	CTG|TCT	.	.		0.483	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
EML1	2009	hgsc.bcm.edu	37	14	100361092	100361092	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr14:100361092G>T	ENST00000262233.6	+	6	813	c.674G>T	c.(673-675)tGg>tTg	p.W225L	EML1_ENST00000327921.9_Missense_Mutation_p.W213L|EML1_ENST00000334192.4_Missense_Mutation_p.W244L	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	225	Tandem atypical propeller in EMLs.		W -> R (probable disease-associated mutation found in a patient with atypical heterotopia and mental retardation). {ECO:0000269|PubMed:24859200}.		brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AAGCTGGAATGGGTGTATCCT	0.393																																					p.W244L		Atlas-SNP	.											.	EML1	97	.	0			c.G731T						.						97.0	89.0	92.0					14																	100361092		2203	4300	6503	SO:0001583	missense	2009	exon7			TGGAATGGGTGTA	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.674G>T	chr14.hg19:g.100361092G>T	ENSP00000262233:p.Trp225Leu	107.0	0.0		66.0	18.0	NM_001008707	Q86U15|Q8N536|Q8N5C4|Q8WWL6	Missense_Mutation	SNP	ENST00000262233.6	hg19	CCDS32155.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.805609	0.90623	.	.	ENSG00000066629	ENST00000554479;ENST00000327921;ENST00000262233;ENST00000334192;ENST00000542138;ENST00000556714	T;T;T;T;T	0.63744	1.2;-0.06;-0.06;-0.06;1.2	5.32	5.32	0.75619	HELP (1);Quinonprotein alcohol dehydrogenase-like (1);	0.110450	0.64402	D	0.000003	T	0.78349	0.4269	M	0.81239	2.535	0.80722	D	1	P;D;D;P;P	0.57257	0.9;0.969;0.979;0.95;0.918	B;P;P;P;P	0.58130	0.407;0.538;0.833;0.487;0.543	T	0.81854	-0.0741	10	0.87932	D	0	-15.4215	18.9766	0.92740	0.0:0.0:1.0:0.0	.	213;213;225;244;244	F8W717;B7Z650;O00423;O00423-3;B3KXA3	.;.;EMAL1_HUMAN;.;.	L	212;213;225;244;244;194	ENSP00000451346:W212L;ENSP00000327384:W213L;ENSP00000262233:W225L;ENSP00000334314:W244L;ENSP00000452089:W194L	ENSP00000262233:W225L	W	+	2	0	EML1	99430845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.471000	0.83476	0.585000	0.79938	TGG	.	.		0.393	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707	
SHC4	399694	hgsc.bcm.edu	37	15	49170689	49170689	+	Intron	SNP	G	G	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr15:49170689G>C	ENST00000332408.4	-	4	1269				SHC4_ENST00000396535.3_5'Flank|EID1_ENST00000530028.2_Missense_Mutation_p.E106Q|EID1_ENST00000558295.1_Intron|SHC4_ENST00000537958.1_5'Flank|EID1_ENST00000560490.1_Missense_Mutation_p.E84Q	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4						apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TGATGACTGGGAGGACGACTA	0.597																																					p.E106Q		Atlas-SNP	.											.	EID1	16	.	0			c.G316C						.						40.0	43.0	42.0					15																	49170689		2044	4189	6233	SO:0001627	intron_variant	23741	exon1			GACTGGGAGGACG	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.840+5755C>G	chr15.hg19:g.49170689G>C		124.0	0.0		50.0	4.0	NM_014335	Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	hg19	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247181	0.80024	.	.	ENSG00000255302	ENST00000530028	T	0.39997	1.05	4.19	4.19	0.49359	.	.	.	.	.	T	0.43255	0.1239	L	0.36672	1.1	0.29774	N	0.83455	P	0.50272	0.933	P	0.52267	0.694	T	0.18241	-1.0343	9	0.26408	T	0.33	.	12.3392	0.55085	0.0:0.0:1.0:0.0	.	106	Q9Y6B2	EID1_HUMAN	Q	106	ENSP00000431162:E106Q	ENSP00000431162:E106Q	E	+	1	0	EID1	46957981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.727000	0.54984	2.622000	0.88805	0.655000	0.94253	GAG	.	.		0.597	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
TP53	7157	hgsc.bcm.edu	37	17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr17:7577142C>T	ENST00000269305.4	-	8	985	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000420246.2_Missense_Mutation_p.G266R	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	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)	CTGTTCCGTCCCAGTAGATTA	0.517		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.G266R	Pancreas(47;798 1329 9957 10801)	Atlas-SNP	.	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53_ENST00000455263,NS,carcinoma,+1,1	TP53	33396	.	86	Substitution - Missense(47)|Substitution - Nonsense(14)|Deletion - In frame(8)|Whole gene deletion(8)|Deletion - Frameshift(5)|Unknown(3)|Insertion - Frameshift(1)	lung(16)|large_intestine(11)|ovary(8)|central_nervous_system(6)|urinary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|stomach(3)|liver(2)|skin(2)|pancreas(2)|biliary_tract(1)|peritoneum(1)|salivary_gland(1)|endometrium(1)|eye(1)|pleura(1)	c.G796A						.						49.0	44.0	46.0					17																	7577142		2203	4300	6503	SO:0001583	missense	7157	exon8	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	TCCGTCCCAGTAG	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.796G>A	chr17.hg19:g.7577142C>T	ENSP00000269305:p.Gly266Arg	123.0	0.0		60.0	7.0	NM_000546	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	hg19	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539769	0.85917	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	5.13	5.13	0.70059	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	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	0.996;1.0;0.986;0.997	D;D;D;D	0.97110	0.978;1.0;0.962;0.958	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	R	266;266;266;266;266;255;134	ENSP00000352610:G266R;ENSP00000269305:G266R;ENSP00000398846:G266R;ENSP00000391127:G266R;ENSP00000391478:G266R;ENSP00000425104:G134R	ENSP00000269305:G266R	G	-	1	0	TP53	7517867	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA	.	.		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MYO18A	399687	hgsc.bcm.edu	37	17	27421037	27421037	+	Missense_Mutation	SNP	A	A	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr17:27421037A>T	ENST00000527372.1	-	31	4962	c.4782T>A	c.(4780-4782)gaT>gaA	p.D1594E	MYO18A_ENST00000354329.4_Missense_Mutation_p.D1594E|MYO18A_ENST00000529578.1_5'Flank|MYO18A_ENST00000533112.1_Intron|MYO18A_ENST00000531253.1_Missense_Mutation_p.D1594E|TIAF1_ENST00000408971.2_5'Flank	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1594					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCACCTCCTCATCCCGACTCT	0.547																																					p.D1594E	Esophageal Squamous(182;472 2015 7001 15270 22562)	Atlas-SNP	.											.	MYO18A	217	.	0			c.T4782A						.						130.0	138.0	135.0					17																	27421037		2080	4201	6281	SO:0001583	missense	399687	exon31			CTCCTCATCCCGA	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4782T>A	chr17.hg19:g.27421037A>T	ENSP00000437073:p.Asp1594Glu	108.0	0.0		63.0	29.0	NM_078471	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	hg19	CCDS45642.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.04|12.04	1.817852|1.817852	0.32145|0.32145	.|.	.|.	ENSG00000196535|ENSG00000196535	ENST00000354329;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428|ENST00000527859	T;T;T|.	0.72942|.	-0.7;-0.7;-0.7|.	5.28|5.28	1.82|1.82	0.25136|0.25136	Myosin tail (1);|.	0.093634|.	0.64402|.	D|.	0.000001|.	T|T	0.43831|0.43831	0.1265|0.1265	L|L	0.31065|0.31065	0.9|0.9	0.35492|0.35492	D|D	0.799096|0.799096	B;B;B|.	0.26258|.	0.096;0.096;0.145|.	B;B;B|.	0.28139|.	0.062;0.062;0.086|.	T|T	0.46898|0.46898	-0.9158|-0.9158	10|5	0.02654|.	T|.	1|.	.|.	10.198|10.198	0.43067|0.43067	0.6707:0.0:0.3293:0.0|0.6707:0.0:0.3293:0.0	.|.	1197;1594;1594|.	F8W6Y3;Q92614-4;Q92614|.	.;.;MY18A_HUMAN|.	E|K	1594;1594;1594;490;490;1197|22	ENSP00000346291:D1594E;ENSP00000434228:D1594E;ENSP00000437073:D1594E|.	ENSP00000346291:D1594E|.	D|M	-|-	3|2	2|0	MYO18A|MYO18A	24445163|24445163	0.358000|0.358000	0.24947|0.24947	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	-0.288000|-0.288000	0.08377|0.08377	0.341000|0.341000	0.23771|0.23771	0.533000|0.533000	0.62120|0.62120	GAT|ATG	.	.		0.547	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471	
SLFN13	146857	hgsc.bcm.edu	37	17	33770885	33770885	+	Missense_Mutation	SNP	C	C	T	rs370603090		TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr17:33770885C>T	ENST00000285013.6	-	4	1396	c.1121G>A	c.(1120-1122)aGt>aAt	p.S374N	SLFN13_ENST00000533791.1_Missense_Mutation_p.S374N|SLFN13_ENST00000534689.1_Missense_Mutation_p.S56N|SLFN13_ENST00000360502.2_Missense_Mutation_p.S56N|SLFN13_ENST00000526861.1_Missense_Mutation_p.S374N|SLFN13_ENST00000542635.1_Missense_Mutation_p.S374N	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	374						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		AAGTGAAGGACTGTCAGATAG	0.383																																					p.S374N		Atlas-SNP	.											.	SLFN13	79	.	0			c.G1121A						.	C	ASN/SER	1,4405		0,1,2202	96.0	91.0	93.0		1121	2.4	0.0	17		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLFN13	NM_144682.5	46	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	374/898	33770885	2,13004	2203	4300	6503	SO:0001583	missense	146857	exon4			GAAGGACTGTCAG	AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.1121G>A	chr17.hg19:g.33770885C>T	ENSP00000285013:p.Ser374Asn	83.0	0.0		183.0	51.0	NM_144682	E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	ENST00000285013.6	hg19	CCDS32620.1	.	.	.	.	.	.	.	.	.	.	c	9.299	1.052517	0.19907	2.27E-4	1.16E-4	ENSG00000154760	ENST00000285013;ENST00000360502;ENST00000526861;ENST00000542635;ENST00000534689;ENST00000532210	T;T;T;T;T;T	0.65549	-0.16;3.86;-0.16;-0.16;3.86;2.17	3.4	2.37	0.29283	.	1.407560	0.04453	N	0.373034	T	0.59004	0.2162	L	0.55481	1.735	0.09310	N	1	P;B	0.36315	0.547;0.118	B;B	0.35510	0.204;0.05	T	0.50659	-0.8802	10	0.52906	T	0.07	.	8.4279	0.32739	0.0:0.7579:0.2421:0.0	.	56;374	Q68D06-2;Q68D06	.;SLN13_HUMAN	N	374;56;374;374;56;43	ENSP00000285013:S374N;ENSP00000353692:S56N;ENSP00000434439:S374N;ENSP00000444016:S374N;ENSP00000435442:S56N;ENSP00000435328:S43N	ENSP00000285013:S374N	S	-	2	0	SLFN13	30794998	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.470000	0.06639	0.702000	0.31825	0.514000	0.50259	AGT	.	.		0.383	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381883.1	NM_144682	
TADA2A	6871	hgsc.bcm.edu	37	17	35836972	35836972	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr17:35836972A>G	ENST00000394395.2	+	16	1390	c.1217A>G	c.(1216-1218)aAc>aGc	p.N406S	TADA2A_ENST00000225396.6_Missense_Mutation_p.N406S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	406	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						AACGAATGTAACAAGCAAGGA	0.423																																					p.N406S		Atlas-SNP	.											.	TADA2A	91	.	0			c.A1217G						.						165.0	169.0	167.0					17																	35836972		2203	4300	6503	SO:0001583	missense	6871	exon16			AATGTAACAAGCA	AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.1217A>G	chr17.hg19:g.35836972A>G	ENSP00000377918:p.Asn406Ser	111.0	0.0		159.0	24.0	NM_001488	A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	ENST00000394395.2	hg19	CCDS11319.1	.	.	.	.	.	.	.	.	.	.	A	14.12	2.441130	0.43326	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.39997	1.05;1.05	5.93	4.85	0.62838	Homeodomain-like (1);SWIRM (2);	0.216662	0.53938	N	0.000049	T	0.17704	0.0425	N	0.03608	-0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07046	-1.0793	10	0.15066	T	0.55	-13.7652	7.7126	0.28686	0.7899:0.1402:0.0699:0.0	.	406	O75478	TAD2A_HUMAN	S	406;305;406	ENSP00000377918:N406S;ENSP00000225396:N406S	ENSP00000225396:N406S	N	+	2	0	TADA2A	32911085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.943000	0.63554	1.075000	0.40932	0.455000	0.32223	AAC	.	.		0.423	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256677.3	NM_001488	
LEPREL4	10609	hgsc.bcm.edu	37	17	39959557	39959557	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr17:39959557C>T	ENST00000355468.3	-	8	1739	c.1273G>A	c.(1273-1275)Ggt>Agt	p.G425S	LEPREL4_ENST00000393928.1_Missense_Mutation_p.G425S			Q92791	SC65_HUMAN	leprecan-like 4	425	Asp/Glu-rich (acidic).				synaptonemal complex assembly (GO:0007130)	condensed nuclear chromosome (GO:0000794)|nucleolus (GO:0005730)|synaptonemal complex (GO:0000795)		p.G425R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						GCCTCGTCACCCTTGGCATCC	0.642																																					p.G425S		Atlas-SNP	.											LEPREL4,NS,carcinoma,0,1	LEPREL4	20	.	1	Substitution - Missense(1)	lung(1)	c.G1273A						.						159.0	120.0	133.0					17																	39959557		2203	4300	6503	SO:0001583	missense	10609	exon7			CGTCACCCTTGGC	BC001047	CCDS11408.1	17q12	2013-05-03	2002-08-29		ENSG00000141696	ENSG00000141696			16946	protein-coding gene	gene with protein product			"""nucleolar autoantigen (55kD)"", ""rat synaptonemal complex protein"""			8862517	Standard	NM_006455		Approved	SC65, NO55	uc002hxt.3	Q92791	OTTHUMG00000133501	ENST00000355468.3:c.1273G>A	chr17.hg19:g.39959557C>T	ENSP00000347649:p.Gly425Ser	217.0	1.0		11.0	6.0	NM_006455	Q53GI6|Q9H4F6	Missense_Mutation	SNP	ENST00000355468.3	hg19	CCDS11408.1	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133210	0.56828	.	.	ENSG00000141696	ENST00000355468;ENST00000393928;ENST00000545545	T;T	0.38887	1.11;1.11	5.78	4.82	0.62117	.	0.056069	0.64402	D	0.000001	T	0.34571	0.0902	L	0.32530	0.975	0.47905	D	0.999542	P;P	0.40211	0.707;0.707	B;B	0.38655	0.278;0.278	T	0.24368	-1.0162	10	0.66056	D	0.02	-22.27	13.7062	0.62641	0.0:0.9256:0.0:0.0744	.	414;425	B4DVZ5;Q92791	.;SC65_HUMAN	S	425;425;414	ENSP00000347649:G425S;ENSP00000377505:G425S	ENSP00000347649:G425S	G	-	1	0	LEPREL4	37213083	1.000000	0.71417	0.996000	0.52242	0.476000	0.33039	4.606000	0.61126	1.486000	0.48398	0.638000	0.83543	GGT	.	.		0.642	LEPREL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257439.2		
C18orf8	29919	hgsc.bcm.edu	37	18	21089229	21089229	+	Missense_Mutation	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr18:21089229A>G	ENST00000269221.3	+	5	504	c.394A>G	c.(394-396)Atc>Gtc	p.I132V	C18orf8_ENST00000590868.1_Intron	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	132						lysosomal membrane (GO:0005765)				endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGATCAAGGAATCGAATTTTA	0.294																																					p.I132V		Atlas-SNP	.											.	C18orf8	58	.	0			c.A394G						.						61.0	60.0	60.0					18																	21089229		2203	4297	6500	SO:0001583	missense	29919	exon5			CAAGGAATCGAAT	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.394A>G	chr18.hg19:g.21089229A>G	ENSP00000269221:p.Ile132Val	144.0	0.0		145.0	21.0	NM_013326	Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	hg19	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	A	4.842	0.156492	0.09236	.	.	ENSG00000141452	ENST00000269221	T	0.11495	2.77	5.78	5.78	0.91487	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.150314	0.64402	D	0.000014	T	0.08313	0.0207	L	0.33189	0.99	0.80722	D	1	B	0.26195	0.144	B	0.19148	0.024	T	0.08146	-1.0736	10	0.06236	T	0.91	-13.3161	14.9685	0.71213	1.0:0.0:0.0:0.0	.	132	Q96DM3	MIC1_HUMAN	V	132	ENSP00000269221:I132V	ENSP00000269221:I132V	I	+	1	0	C18orf8	19343227	1.000000	0.71417	0.907000	0.35723	0.992000	0.81027	5.618000	0.67722	2.333000	0.79357	0.533000	0.62120	ATC	.	.		0.294	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326	
EMR1	2015	hgsc.bcm.edu	37	19	6904085	6904085	+	Missense_Mutation	SNP	C	C	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:6904085C>G	ENST00000312053.4	+	8	878	c.841C>G	c.(841-843)Cct>Gct	p.P281A	EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381407.5_Missense_Mutation_p.P140A|EMR1_ENST00000250572.8_Missense_Mutation_p.P281A|EMR1_ENST00000381404.4_Missense_Mutation_p.P229A	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	281	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					AACCTGTGGTCCTAATTCTAT	0.473																																					p.P281A		Atlas-SNP	.											.	EMR1	153	.	0			c.C841G						.						100.0	95.0	97.0					19																	6904085		2203	4300	6503	SO:0001583	missense	2015	exon8			TGTGGTCCTAATT	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.841C>G	chr19.hg19:g.6904085C>G	ENSP00000311545:p.Pro281Ala	101.0	0.0		108.0	12.0	NM_001256253	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Missense_Mutation	SNP	ENST00000312053.4	hg19	CCDS12175.1	.	.	.	.	.	.	.	.	.	.	C	6.281	0.419898	0.11928	.	.	ENSG00000174837	ENST00000543519;ENST00000312053;ENST00000381404;ENST00000250572;ENST00000381407	D;D;D;D	0.91180	-2.8;-2.21;-2.8;-2.21	3.41	2.37	0.29283	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.87589	0.6215	L	0.43598	1.365	0.34071	D	0.658396	B;P;P;P	0.47545	0.065;0.897;0.863;0.722	B;P;P;P	0.52454	0.01;0.598;0.699;0.525	D	0.84479	0.0604	9	0.09590	T	0.72	.	6.8296	0.23902	0.0:0.8709:0.0:0.1291	.	140;281;229;281	B7Z486;Q14246-2;E9PD45;Q14246	.;.;.;EMR1_HUMAN	A	281;281;229;281;140	ENSP00000311545:P281A;ENSP00000370811:P229A;ENSP00000250572:P281A;ENSP00000370814:P140A	ENSP00000250572:P281A	P	+	1	0	EMR1	6855085	0.022000	0.18835	0.004000	0.12327	0.008000	0.06430	0.984000	0.29565	1.020000	0.39573	0.650000	0.86243	CCT	.	.		0.473	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1		
MUC16	94025	hgsc.bcm.edu	37	19	9018487	9018487	+	Missense_Mutation	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:9018487G>A	ENST00000397910.4	-	24	37890	c.37687C>T	c.(37687-37689)Cgc>Tgc	p.R12563C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12565	SEA 4. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAGCCAGGGCGATGCATGTCC	0.547																																					p.R12563C		Atlas-SNP	.											.	MUC16	4315	.	0			c.C37687T						.						227.0	195.0	206.0					19																	9018487		2019	4190	6209	SO:0001583	missense	94025	exon24			CAGGGCGATGCAT	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.37687C>T	chr19.hg19:g.9018487G>A	ENSP00000381008:p.Arg12563Cys	305.0	0.0		177.0	12.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	3.562	-0.089368	0.07097	.	.	ENSG00000181143	ENST00000397910	T	0.29917	1.55	2.01	-0.51	0.11973	.	.	.	.	.	T	0.24851	0.0603	M	0.73962	2.25	.	.	.	B	0.32031	0.352	B	0.06405	0.002	T	0.28396	-1.0045	8	0.87932	D	0	.	2.7893	0.05383	0.1726:0.0:0.5576:0.2698	.	12563	B5ME49	.	C	12563	ENSP00000381008:R12563C	ENSP00000381008:R12563C	R	-	1	0	MUC16	8879487	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.521000	0.06245	-0.031000	0.13781	0.195000	0.17529	CGC	.	.		0.547	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
MUC16	94025	hgsc.bcm.edu	37	19	9038131	9038131	+	Missense_Mutation	SNP	C	C	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:9038131C>A	ENST00000397910.4	-	8	36348	c.36145G>T	c.(36145-36147)Gtg>Ttg	p.V12049L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12051	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTAGAAGTCACTGGAGCTGAG	0.448																																					p.V12049L		Atlas-SNP	.											.	MUC16	4315	.	0			c.G36145T						.						61.0	60.0	61.0					19																	9038131		1914	4124	6038	SO:0001583	missense	94025	exon8			AAGTCACTGGAGC	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.36145G>T	chr19.hg19:g.9038131C>A	ENSP00000381008:p.Val12049Leu	103.0	0.0		114.0	8.0	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364452	0.11296	.	.	ENSG00000181143	ENST00000397910	T	0.02032	4.49	2.3	1.25	0.21368	.	.	.	.	.	T	0.02342	0.0072	N	0.08118	0	.	.	.	P	0.43701	0.815	P	0.51777	0.679	T	0.44997	-0.9291	8	0.87932	D	0	.	4.9543	0.14031	0.0:0.8221:0.0:0.1779	.	12049	B5ME49	.	L	12049	ENSP00000381008:V12049L	ENSP00000381008:V12049L	V	-	1	0	MUC16	8899131	0.003000	0.15002	0.210000	0.23637	0.134000	0.20937	1.111000	0.31159	0.535000	0.28714	-0.474000	0.04947	GTG	.	.		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ILF3	3609	hgsc.bcm.edu	37	19	10791742	10791742	+	Silent	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:10791742C>T	ENST00000590261.1	+	9	1005	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	ILF3_ENST00000420083.1_Silent_p.G335G|ILF3_ENST00000449870.1_Silent_p.G335G|ILF3_ENST00000589998.1_Silent_p.G335G|ILF3_ENST00000318511.3_Silent_p.G335G|ILF3_ENST00000250241.8_Silent_p.G335G|ILF3_ENST00000588657.1_Silent_p.G335G|ILF3_ENST00000592763.1_Silent_p.G335G|ILF3_ENST00000407004.3_Silent_p.G335G			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	335	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AAGTCCTAGGCATGGACCCTC	0.607																																					p.G335G		Atlas-SNP	.											.	ILF3	99	.	0			c.C1005T						.						96.0	96.0	96.0					19																	10791742		2203	4300	6503	SO:0001819	synonymous_variant	3609	exon10			CCTAGGCATGGAC	U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1005C>T	chr19.hg19:g.10791742C>T		107.0	0.0		35.0	11.0	NM_017620	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Silent	SNP	ENST00000590261.1	hg19	CCDS12246.1																																																																																			.	.		0.607	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1		
OR7A10	390892	hgsc.bcm.edu	37	19	14952528	14952528	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:14952528G>T	ENST00000248058.1	-	1	161	c.162C>A	c.(160-162)caC>caA	p.H54Q		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					GGGTGTGGAGGTGGGAGTCTG	0.532																																					p.H54Q		Atlas-SNP	.											.	OR7A10	33	.	0			c.C162A						.						76.0	71.0	72.0					19																	14952528		2203	4297	6500	SO:0001583	missense	390892	exon1			GTGGAGGTGGGAG		CCDS32936.1	19p13.1	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	8356	protein-coding gene	gene with protein product							Standard	NM_001005190		Approved		uc002mzx.1	O76100		ENST00000248058.1:c.162C>A	chr19.hg19:g.14952528G>T	ENSP00000248058:p.His54Gln	126.0	0.0		112.0	8.0	NM_001005190	Q6IFP0|Q96R97	Missense_Mutation	SNP	ENST00000248058.1	hg19	CCDS32936.1	.	.	.	.	.	.	.	.	.	.	g	10.82	1.459410	0.26248	.	.	ENSG00000127515	ENST00000248058	T	0.00792	5.69	2.79	1.71	0.24356	GPCR, rhodopsin-like superfamily (1);	0.182647	0.25978	U	0.027084	T	0.01092	0.0036	L	0.41027	1.25	0.21897	N	0.999481	B	0.33135	0.399	B	0.40864	0.342	T	0.45160	-0.9280	10	0.62326	D	0.03	.	7.8633	0.29522	0.1346:0.0:0.8654:0.0	.	54	O76100	OR7AA_HUMAN	Q	54	ENSP00000248058:H54Q	ENSP00000248058:H54Q	H	-	3	2	OR7A10	14813528	0.017000	0.18338	0.998000	0.56505	0.865000	0.49528	-0.345000	0.07770	0.497000	0.27926	0.430000	0.28490	CAC	.	.		0.532	OR7A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466520.1	NM_001005190	
CPAMD8	27151	hgsc.bcm.edu	37	19	17068704	17068704	+	Silent	SNP	A	A	G			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:17068704A>G	ENST00000443236.1	-	19	2407	c.2376T>C	c.(2374-2376)acT>acC	p.T792T	CPAMD8_ENST00000388925.4_3'UTR	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	745						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CGGGGAAGAAAGTCCTTTTTC	0.378																																					p.T792T		Atlas-SNP	.											.	CPAMD8	192	.	0			c.T2376C						.						203.0	190.0	194.0					19																	17068704		1894	4125	6019	SO:0001819	synonymous_variant	27151	exon19			GAAGAAAGTCCTT	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.2376T>C	chr19.hg19:g.17068704A>G		92.0	0.0		102.0	26.0	NM_015692	Q8NC09|Q9ULD7	Silent	SNP	ENST00000443236.1	hg19	CCDS42519.1	.	.	.	.	.	.	.	.	.	.	A	8.438	0.850216	0.17034	.	.	ENSG00000160111	ENST00000443236	T	0.26223	1.75	3.3	-1.65	0.08291	.	.	.	.	.	T	0.22360	0.0539	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.14282	-1.0478	5	.	.	.	.	5.2229	0.15377	0.4408:0.0:0.4215:0.1378	.	.	.	.	P	803	ENSP00000402505:L803P	.	L	-	2	0	CPAMD8	16929704	0.963000	0.33076	0.920000	0.36463	0.874000	0.50279	-0.133000	0.10451	-0.124000	0.11724	0.477000	0.44152	CTT	.	.		0.378	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2	NM_015692	
HAUS8	93323	hgsc.bcm.edu	37	19	17160925	17160925	+	Missense_Mutation	SNP	G	G	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:17160925G>C	ENST00000253669.5	-	11	1181	c.991C>G	c.(991-993)Cag>Gag	p.Q331E	HAUS8_ENST00000448593.2_Missense_Mutation_p.Q330E|CTD-2528A14.3_ENST00000598893.1_RNA|HAUS8_ENST00000593360.1_Missense_Mutation_p.Q270E			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	331					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CAGACTTCCTGGTTTGCCAAG	0.572																																					p.Q331E		Atlas-SNP	.											.	HAUS8	31	.	0			c.C991G						.						40.0	40.0	40.0					19																	17160925		2203	4300	6503	SO:0001583	missense	93323	exon11			CTTCCTGGTTTGC	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.991C>G	chr19.hg19:g.17160925G>C	ENSP00000253669:p.Gln331Glu	127.0	0.0		51.0	21.0	NM_033417	B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	hg19	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530033	0.45073	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.78003	-1.14;-1.14	4.66	4.66	0.58398	.	0.000000	0.64402	D	0.000012	D	0.82898	0.5137	L	0.49778	1.585	0.50171	D	0.999859	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.63957	0.92;0.92;0.92	D	0.84790	0.0778	10	0.87932	D	0	-32.132	13.0611	0.59008	0.0:0.0:1.0:0.0	.	270;330;331	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	E	331;330	ENSP00000253669:Q331E;ENSP00000395298:Q330E	ENSP00000253669:Q331E	Q	-	1	0	HAUS8	17021925	1.000000	0.71417	0.977000	0.42913	0.089000	0.18198	4.814000	0.62627	2.145000	0.66743	0.655000	0.94253	CAG	.	.		0.572	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699	
BIRC8	112401	hgsc.bcm.edu	37	19	53793408	53793408	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr19:53793408C>T	ENST00000426466.1	-	1	1467	c.220G>A	c.(220-222)Gga>Aga	p.G74R		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	74					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TATTCATGTCCCTTCTCTTCT	0.428																																					p.G74R		Atlas-SNP	.											.	BIRC8	54	.	0			c.G220A						.						156.0	149.0	151.0					19																	53793408		2203	4300	6503	SO:0001583	missense	112401	exon1			CATGTCCCTTCTC	AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.220G>A	chr19.hg19:g.53793408C>T	ENSP00000412957:p.Gly74Arg	187.0	0.0		145.0	59.0	NM_033341	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	hg19	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.214847	0.39102	.	.	ENSG00000163098	ENST00000426466	T	0.04119	3.7	0.502	0.502	0.16932	Baculoviral inhibition of apoptosis protein repeat (1);	.	.	.	.	T	0.17365	0.0417	M	0.80183	2.485	0.51233	D	0.999915	D	0.89917	1.0	D	0.87578	0.998	T	0.01889	-1.1253	9	0.87932	D	0	.	6.9506	0.24542	0.0:0.9999:0.0:1.0E-4	.	74	Q96P09	BIRC8_HUMAN	R	74	ENSP00000412957:G74R	ENSP00000412957:G74R	G	-	1	0	BIRC8	58485220	0.825000	0.29262	0.018000	0.16275	0.006000	0.05464	1.856000	0.39389	0.578000	0.29487	0.420000	0.28162	GGA	.	.		0.428	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
RBL1	5933	hgsc.bcm.edu	37	20	35684006	35684006	+	Missense_Mutation	SNP	C	C	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr20:35684006C>T	ENST00000373664.3	-	11	1483	c.1417G>A	c.(1417-1419)Gag>Aag	p.E473K	RBL1_ENST00000344359.3_Missense_Mutation_p.E473K	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	473	Domain A.|Pocket; binds T and E1A.				chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				ATTACAGTCTCTAGTATTTTA	0.373																																					p.E473K		Atlas-SNP	.											.	RBL1	114	.	0			c.G1417A						.						93.0	90.0	91.0					20																	35684006		2202	4298	6500	SO:0001583	missense	5933	exon11			CAGTCTCTAGTAT	L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.1417G>A	chr20.hg19:g.35684006C>T	ENSP00000362768:p.Glu473Lys	59.0	0.0		99.0	12.0	NM_183404	A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	ENST00000373664.3	hg19	CCDS13289.1	.	.	.	.	.	.	.	.	.	.	C	35	5.446589	0.96205	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.90504	-2.68;-2.68	4.8	4.8	0.61643	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.048215	0.85682	D	0.000000	D	0.95408	0.8509	M	0.80028	2.48	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.977;0.998	D	0.95508	0.8583	10	0.56958	D	0.05	-28.3863	18.1082	0.89527	0.0:1.0:0.0:0.0	.	473;473	P28749-2;P28749	.;RBL1_HUMAN	K	473	ENSP00000362768:E473K;ENSP00000343646:E473K	ENSP00000343646:E473K	E	-	1	0	RBL1	35117420	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.569000	0.82380	2.526000	0.85167	0.650000	0.86243	GAG	.	.		0.373	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079067.2	NM_002895	
CLTCL1	8218	hgsc.bcm.edu	37	22	19207465	19207465	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr22:19207465T>A	ENST00000263200.10	-	18	2920	c.2848A>T	c.(2848-2850)Aga>Tga	p.R950*	CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.R950*|CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.R950*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	950	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGATCCTTTCTGCATACCAGG	0.537			T	?	ALCL																																p.R950X		Atlas-SNP	.		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	.	CLTCL1	115	.	0			c.A2848T						.						137.0	139.0	138.0					22																	19207465		2007	4159	6166	SO:0001587	stop_gained	8218	exon18			CCTTTCTGCATAC		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2848A>T	chr22.hg19:g.19207465T>A	ENSP00000445677:p.Arg950*	150.0	0.0		106.0	37.0	NM_001835	B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	ENST00000263200.10	hg19	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	T	38	7.179437	0.98118	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	4.03	2.96	0.34315	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7955	10.6207	0.45478	0.0:0.0:0.1612:0.8388	.	.	.	.	X	950	.	ENSP00000445677:R950X	R	-	1	2	CLTCL1	17587465	1.000000	0.71417	0.765000	0.31456	0.270000	0.26580	2.367000	0.44213	0.569000	0.29329	0.383000	0.25322	AGA	.	.		0.537	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
C22orf29	79680	hgsc.bcm.edu	37	22	19839038	19839038	+	Silent	SNP	T	T	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr22:19839038T>C	ENST00000405640.1	-	2	1415	c.747A>G	c.(745-747)gtA>gtG	p.V249V	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000484072.1_Intron|C22orf29_ENST00000328554.4_Silent_p.V249V|GNB1L_ENST00000403325.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000407472.1_Silent_p.V249V			Q7L3V2	BOP_HUMAN	chromosome 22 open reading frame 29	249					mitochondrial outer membrane permeabilization (GO:0097345)|regulation of mitochondrial membrane potential (GO:0051881)	mitochondrion (GO:0005739)				NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CACTTCTAGATACAGAGTTGG	0.597																																					p.V249V		Atlas-SNP	.											.	C22orf29	23	.	0			c.A747G						.						66.0	70.0	69.0					22																	19839038		2203	4300	6503	SO:0001819	synonymous_variant	79680	exon3			TCTAGATACAGAG	BX640998	CCDS13769.1	22q11.21	2006-07-05			ENSG00000215012	ENSG00000215012			26112	protein-coding gene	gene with protein product						12477932	Standard	NM_024627		Approved	FLJ21125	uc002zqh.3	Q7L3V2	OTTHUMG00000030314	ENST00000405640.1:c.747A>G	chr22.hg19:g.19839038T>C		77.0	0.0		17.0	8.0	NM_024627	A8K5E7|D3DX21|Q6MZM8|Q6N000|Q9H7A0	Silent	SNP	ENST00000405640.1	hg19	CCDS13769.1																																																																																			.	.		0.597	C22orf29-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317290.2	NM_024627	
FAM47B	170062	hgsc.bcm.edu	37	X	34961245	34961245	+	Silent	SNP	G	G	A			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chrX:34961245G>A	ENST00000329357.5	+	1	333	c.297G>A	c.(295-297)aaG>aaA	p.K99K		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	99										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGCTCAAGAAAGCGGCCC	0.527																																					p.K99K		Atlas-SNP	.											.	FAM47B	209	.	0			c.G297A						.						91.0	84.0	86.0					X																	34961245		2202	4300	6502	SO:0001819	synonymous_variant	170062	exon1			GCTCAAGAAAGCG	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.297G>A	chrX.hg19:g.34961245G>A		132.0	0.0		85.0	43.0	NM_152631	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	hg19	CCDS14236.1																																																																																			.	.		0.527	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631	
RPS6KA6	27330	hgsc.bcm.edu	37	X	83359655	83359655	+	Missense_Mutation	SNP	T	T	C			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chrX:83359655T>C	ENST00000262752.2	-	17	1473	c.1466A>G	c.(1465-1467)gAt>gGt	p.D489G	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.D489G|RPS6KA6_ENST00000495332.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	489	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|central nervous system development (GO:0007417)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|negative regulation of embryonic development (GO:0045992)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of mesoderm development (GO:2000381)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATATCTACCATCATCAAAGAC	0.294																																					p.D489G		Atlas-SNP	.											.	RPS6KA6	116	.	0			c.A1466G						.						58.0	51.0	53.0					X																	83359655		2202	4296	6498	SO:0001583	missense	27330	exon17			CTACCATCATCAA	AF184965	CCDS14451.1	Xq21.1	2011-04-05	2002-08-29		ENSG00000072133	ENSG00000072133			10435	protein-coding gene	gene with protein product		300303	"""ribosomal protein S6 kinase, 90kD, polypeptide 6"""			10644430	Standard	NM_014496		Approved	RSK4	uc004eej.2	Q9UK32	OTTHUMG00000021923	ENST00000262752.2:c.1466A>G	chrX.hg19:g.83359655T>C	ENSP00000262752:p.Asp489Gly	106.0	0.0		174.0	155.0	NM_014496	B2R854|B7ZL90|Q6FHX2|Q8WX28|Q9H4S6	Missense_Mutation	SNP	ENST00000262752.2	hg19	CCDS14451.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188453	0.78789	.	.	ENSG00000072133	ENST00000262752;ENST00000543399	T;T	0.67345	-0.26;-0.26	5.2	5.2	0.72013	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049214	0.85682	D	0.000000	T	0.73845	0.3639	L	0.46157	1.445	0.80722	D	1	P;P	0.51449	0.638;0.945	P;P	0.59221	0.688;0.854	T	0.76820	-0.2818	10	0.87932	D	0	.	14.1772	0.65549	0.0:0.0:0.0:1.0	.	489;489	B7ZL90;Q9UK32	.;KS6A6_HUMAN	G	489	ENSP00000262752:D489G;ENSP00000440830:D489G	ENSP00000262752:D489G	D	-	2	0	RPS6KA6	83246311	1.000000	0.71417	1.000000	0.80357	0.820000	0.46376	7.859000	0.86982	1.725000	0.51514	0.430000	0.28490	GAT	.	.		0.294	RPS6KA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057372.1	NM_014496	
MAGEA12	4111	hgsc.bcm.edu	37	X	151900290	151900290	+	Missense_Mutation	SNP	G	G	T			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chrX:151900290G>T	ENST00000357916.4	-	2	666	c.511C>A	c.(511-513)Cgc>Agc	p.R171S	MAGEA12_ENST00000393900.3_Missense_Mutation_p.R171S|CSAG1_ENST00000452779.2_5'Flank|CSAG1_ENST00000370291.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.R171S|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	171	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCGATGCGGACCACTTCC	0.542																																					p.R171S		Atlas-SNP	.											.	MAGEA12	125	.	0			c.C511A						.						160.0	149.0	153.0					X																	151900290		2203	4300	6503	SO:0001583	missense	4111	exon2			CGATGCGGACCAC		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.511C>A	chrX.hg19:g.151900290G>T	ENSP00000350592:p.Arg171Ser	398.0	2.0		311.0	245.0	NM_005367	Q9NSD3	Missense_Mutation	SNP	ENST00000357916.4	hg19	CCDS14710.1	.	.	.	.	.	.	.	.	.	.	G	6.965	0.548028	0.13312	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.04360	3.64;3.64;3.64	0.809	0.809	0.18725	.	0.370527	0.30210	N	0.010156	T	0.01558	0.0050	N	0.00996	-1.065	0.09310	N	1	B	0.02656	0.0	B	0.12837	0.008	T	0.46261	-0.9204	9	0.40728	T	0.16	.	.	.	.	.	171	P43365	MAGAC_HUMAN	S	171	ENSP00000350592:R171S;ENSP00000377447:R171S;ENSP00000377478:R171S	ENSP00000350592:R171S	R	-	1	0	MAGEA12	151650946	0.021000	0.18746	0.025000	0.17156	0.047000	0.14425	1.666000	0.37460	0.675000	0.31264	0.181000	0.17075	CGC	.	.		0.542	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367	
IARS2	55699	hgsc.bcm.edu	37	1	220307815	220307816	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	TT	TT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:220307815_220307816delTT	ENST00000302637.5	+	15	2013_2014	c.1909_1910delTT	c.(1909-1911)ttafs	p.L637fs	snoU13_ENST00000459443.1_RNA|IARS2_ENST00000366922.1_Frame_Shift_Del_p.L565fs	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	637					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	GTCATCCTTATTAACAAGTGTG	0.416																																					p.636_637del		Atlas-Indel,Pindel	.											.	IARS2	106	.	0			c.1908_1909del						.																																			SO:0001589	frameshift_variant	55699	exon15			.	AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.1909_1910delTT	chr1.hg19:g.220307815_220307816delTT	ENSP00000303279:p.Leu637fs	125.0	0.0		120.0	48.0	NM_018060	B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Frame_Shift_Del	DEL	ENST00000302637.5	hg19	CCDS1523.1																																																																																			.	.		0.416	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018060	
MTMR14	64419	hgsc.bcm.edu	37	3	9712791	9712791	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr3:9712791delA	ENST00000296003.4	+	6	736	c.614delA	c.(613-615)tacfs	p.Y205fs	MTMR14_ENST00000353332.5_Frame_Shift_Del_p.Y205fs|MTMR14_ENST00000351233.5_Frame_Shift_Del_p.Y205fs|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	205					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CTGCTTCGATACCTGTCAGTC	0.453																																					p.Y205fs		Atlas-Indel,Pindel	.											.	MTMR14	43	.	0			c.613delT						.						132.0	128.0	129.0					3																	9712791		2020	4189	6209	SO:0001589	frameshift_variant	64419	exon6			.	BC001674	CCDS43043.1, CCDS43044.1, CCDS43045.1	3p26	2011-06-09	2006-12-18	2006-12-18	ENSG00000163719	ENSG00000163719		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	26190	protein-coding gene	gene with protein product	"""egg-derived tyrosine phosphatase homolog (Drosophila)"""	611089	"""chromosome 3 open reading frame 29"""	C3orf29		15186772	Standard	NM_022485		Approved	FLJ22405, FLJ90311, hJumpy, hEDTP	uc003brz.3	Q8NCE2	OTTHUMG00000155111	ENST00000296003.4:c.614delA	chr3.hg19:g.9712791delA	ENSP00000296003:p.Tyr205fs	148.0	0.0		145.0	66.0	NM_001077525	Q0JTH5|Q0JU83|Q6PIZ4|Q6QE21|Q86VK9|Q8IYK1|Q8TCM7|Q9H6C0	Frame_Shift_Del	DEL	ENST00000296003.4	hg19	CCDS43043.1																																																																																			.	.		0.453	MTMR14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338435.1	NM_022485	
CYB561D1	284613	hgsc.bcm.edu	37	1	110038869	110038871	+	In_Frame_Del	DEL	AAT	AAT	-			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	AAT	AAT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr1:110038869_110038871delAAT	ENST00000420578.2	+	3	718_720	c.678_680delAAT	c.(676-681)aaaatg>aag	p.M227del	CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR|CYB561D1_ENST00000369868.3_In_Frame_Del_p.M249del|CYB561D1_ENST00000393709.3_In_Frame_Del_p.M170del|CYB561D1_ENST00000528785.1_In_Frame_Del_p.M227del|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	227					oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CGAGGAAGAAAATGGAAATGTGA	0.498																																					p.248_249del		Atlas-Indel,Pindel	.											.	CYB561D1	13	.	0			c.743_745del						.																																			SO:0001651	inframe_deletion	284613	exon3			.	AK096354	CCDS800.1, CCDS44188.1, CCDS44189.1, CCDS44190.1, CCDS44191.1	1p13.2	2013-03-14	2013-03-14		ENSG00000174151	ENSG00000174151		"""Cytochrome b genes"""	26804	protein-coding gene	gene with protein product			"""cytochrome b-561 domain containing 1"""			23249217	Standard	NM_182580		Approved	FLJ39035, FLJ44753	uc010ovo.2	Q8N8Q1	OTTHUMG00000011051	ENST00000420578.2:c.678_680delAAT	chr1.hg19:g.110038869_110038871delAAT	ENSP00000413530:p.Met227del	201.0	0.0		127.0	45.0	NM_001134400	B4DH97|E9PCM8|Q52M36|Q5T6C2|Q5T6C3	In_Frame_Del	DEL	ENST00000420578.2	hg19	CCDS800.1																																																																																			.	.		0.498	CYB561D1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000030384.1	NM_182580	
LBP	3929	hgsc.bcm.edu	37	20	36999383	36999383	+	Splice_Site	DEL	C	C	-			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr20:36999383delC	ENST00000217407.2	+	11	1312	c.1151delC	c.(1150-1152)gcc>gc	p.A384fs		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	384					acute-phase response (GO:0006953)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of molecule of bacterial origin (GO:0032490)|innate immune response (GO:0045087)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipopolysaccharide transport (GO:0015920)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of tumor necrosis factor production (GO:0032720)|opsonization (GO:0008228)|positive regulation of chemokine production (GO:0032722)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of macrophage activation (GO:0043032)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of respiratory burst involved in inflammatory response (GO:0060265)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|response to lipopolysaccharide (GO:0032496)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CATTTCCAGGCCACTAATGTG	0.502																																					p.A384fs		Atlas-INDEL	.											.	LBP	60	.	0			c.1150delG						.						145.0	132.0	136.0					20																	36999383		2203	4300	6503	SO:0001630	splice_region_variant	3929	exon11			.		CCDS13304.1	20q11.23	2011-08-16	2001-11-28		ENSG00000129988	ENSG00000129988		"""BPI fold containing"""	6517	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 2"""	151990	"""lipopolysaccharide-binding protein"""			8432532	Standard	NM_004139		Approved	BPIFD2	uc002xic.2	P18428	OTTHUMG00000032447	ENST00000217407.2:c.1150-1C>-	chr20.hg19:g.36999383delC		204.0	0.0		185.0	15.0	NM_004139	B2R938|O43438|Q92672|Q9H403|Q9UD66	Frame_Shift_Del	DEL	ENST00000217407.2	hg19	CCDS13304.1																																																																																			.	.		0.502	LBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079174.2	NM_004139	Frame_Shift_Del
LDB3	11155	hgsc.bcm.edu	37	10	88478564	88478564	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BW-A5NO-01A-11D-A27I-10	TCGA-BW-A5NO-10A-01D-A27I-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	81a8b064-e735-455f-b2db-af7ae11daac4	3033ae06-ebb4-4dbb-9f60-b9b9d5c72805	g.chr10:88478564delC	ENST00000361373.4	+	11	1959	c.1938delC	c.(1936-1938)agcfs	p.S646fs	LDB3_ENST00000352360.5_Frame_Shift_Del_p.S389fs|LDB3_ENST00000458213.2_Frame_Shift_Del_p.S536fs|LDB3_ENST00000429277.2_Frame_Shift_Del_p.S651fs|LDB3_ENST00000263066.6_Frame_Shift_Del_p.S536fs	NM_007078.2	NP_009009.1			LIM domain binding 3											breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						TTGGGAACAGCCTCTTCCACA	0.582																																					p.S651fs		Atlas-Indel,Pindel	.											.	LDB3	164	.	0			c.1952delG						.						76.0	68.0	71.0					10																	88478564		2203	4300	6503	SO:0001589	frameshift_variant	11155	exon12			.	AB014513	CCDS7377.1, CCDS41544.1, CCDS41545.1, CCDS53549.1, CCDS53550.1	10q22.3-q23.2	2014-09-17			ENSG00000122367	ENSG00000122367			15710	protein-coding gene	gene with protein product	"""cypher"", ""oracle"", ""Z-band alternatively spliced PDZ motif protein"""	605906	"""cardiomyopathy, dilated 1C (autosomal dominant)"""	CMD1C		10427098, 23271734, 23996002, 14662268	Standard	NM_001080114		Approved	PDLIM6, KIAA0613, ZASP	uc001kdv.3	O75112	OTTHUMG00000018655	ENST00000361373.4:c.1938delC	chr10.hg19:g.88478564delC	ENSP00000355296:p.Ser646fs	148.0	0.0		60.0	24.0	NM_001171610		Frame_Shift_Del	DEL	ENST00000361373.4	hg19	CCDS7377.1																																																																																			.	.		0.582	LDB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049160.2		
