#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_Confidence	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_NVarRat	i_ORegAnno_bin	i_TTotCov	i_TVarCov	i_TVarRat	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_dbSNP_PopFreq	i_dbSNP_Strength	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
LRP8	7804	hgsc.bcm.edu	37	1	53712713	53712713	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:53712713G>A	ENST00000306052.6	-	19	2970	c.2869C>T	c.(2869-2871)Ctt>Ttt	p.L957F	LRP8_ENST00000354412.3_Missense_Mutation_p.L694F|LRP8_ENST00000465675.1_Missense_Mutation_p.L451F|LRP8_ENST00000371454.2_Missense_Mutation_p.L898F|LRP8_ENST00000347547.2_Missense_Mutation_p.L787F|RP5-1024G6.8_ENST00000602943.1_lincRNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	957					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TCATCTTCAAGGCTTAATGCC	0.433																																					p.L957F		Atlas-SNP	.											.	LRP8	58	.	0			c.C2869T						PASS	.						122.0	106.0	111.0					1																	53712713		2203	4300	6503	SO:0001583	missense	7804	exon19			CTTCAAGGCTTAA	D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.2869C>T	chr1.hg19:g.53712713G>A	ENSP00000303634:p.Leu957Phe	91.0	0.0	.		64.0	10.0	.	NM_004631	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	ENST00000306052.6	hg19	CCDS578.1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771798	0.69992	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.94092	-3.0;-2.84;-3.35;-2.86;-2.95	5.47	3.42	0.39159	.	.	.	.	.	D	0.92140	0.7508	N	0.19112	0.55	0.41755	D	0.989687	P;D;P;P;D	0.67145	0.928;0.992;0.928;0.954;0.996	P;P;P;B;D	0.70487	0.541;0.747;0.541;0.356;0.969	D	0.90630	0.4566	9	0.72032	D	0.01	.	7.9953	0.30265	0.0796:0.0:0.5688:0.3516	.	694;787;898;957;451	Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;LRP8_HUMAN;.	F	957;898;451;694;787	ENSP00000303634:L957F;ENSP00000360509:L898F;ENSP00000437009:L451F;ENSP00000346391:L694F;ENSP00000334522:L787F	ENSP00000303634:L957F	L	-	1	0	LRP8	53485301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.688000	0.46984	0.479000	0.27511	0.655000	0.94253	CTT	.	.	.	none		0.433	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024699.1	NM_004631	
ZNHIT6	54680	hgsc.bcm.edu	37	1	86167916	86167916	+	Missense_Mutation	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:86167916T>A	ENST00000370574.3	-	5	1076	c.943A>T	c.(943-945)Agg>Tgg	p.R315W	ZNHIT6_ENST00000431532.2_Missense_Mutation_p.R276W			Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	315					box C/D snoRNP assembly (GO:0000492)|ribosome biogenesis (GO:0042254)	extracellular vesicular exosome (GO:0070062)|pre-snoRNP complex (GO:0070761)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ATACCTTGCCTCCGGGCACGA	0.294																																					p.R315W		Atlas-SNP	.											.	ZNHIT6	42	.	0			c.A943T						PASS	.						67.0	67.0	67.0					1																	86167916		2202	4299	6501	SO:0001583	missense	54680	exon5			CTTGCCTCCGGGC	AL442074	CCDS707.1, CCDS53338.1	1p22.3	2013-01-17	2010-09-15	2008-06-23	ENSG00000117174	ENSG00000117174		"""Zinc fingers, HIT-type"""	26089	protein-coding gene	gene with protein product	"""box C/D snoRNA essential 1 homolog (S. cerevisiae)"""		"""chromosome 1 open reading frame 181"", ""zinc finger, HIT type 6"""	C1orf181		12747765	Standard	NM_017953		Approved	FLJ20729, NY-BR-75, BCD1	uc001dlh.3	Q9NWK9	OTTHUMG00000010576	ENST00000370574.3:c.943A>T	chr1.hg19:g.86167916T>A	ENSP00000359606:p.Arg315Trp	296.0	0.0	.		235.0	51.0	.	NM_017953	B2RBA1|B4DP13|D3DT20|Q9H278|Q9H3X3|Q9NWN0	Missense_Mutation	SNP	ENST00000370574.3	hg19	CCDS707.1	.	.	.	.	.	.	.	.	.	.	T	19.77	3.889819	0.72524	.	.	ENSG00000117174	ENST00000431532;ENST00000370574	T;T	0.54279	0.62;0.58	5.37	4.21	0.49690	.	0.240905	0.40302	N	0.001123	T	0.45518	0.1346	L	0.46157	1.445	0.34792	D	0.735819	D;D	0.61697	0.99;0.985	P;P	0.55667	0.781;0.715	T	0.53222	-0.8469	10	0.62326	D	0.03	-10.471	11.2031	0.48754	0.0:0.0:0.2929:0.7071	.	276;315	B4DP13;Q9NWK9	.;BCD1_HUMAN	W	276;315	ENSP00000414344:R276W;ENSP00000359606:R315W	ENSP00000359606:R315W	R	-	1	2	ZNHIT6	85940504	0.995000	0.38212	0.919000	0.36401	0.900000	0.52787	2.999000	0.49473	0.929000	0.37192	0.454000	0.30748	AGG	.	.	.	none		0.294	ZNHIT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029186.1	NM_017953	
FCRL6	343413	hgsc.bcm.edu	37	1	159778131	159778131	+	Silent	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:159778131A>T	ENST00000368106.3	+	3	217	c.216A>T	c.(214-216)gcA>gcT	p.A72A	FCRL6_ENST00000392235.3_Silent_p.A72A|FCRL6_ENST00000339348.5_Silent_p.A72A|FCRL6_ENST00000321935.6_Silent_p.A79A	NM_001004310.2	NP_001004310.2	Q6DN72	FCRL6_HUMAN	Fc receptor-like 6	72	Ig-like C2-type 1.					external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCATGGGAGCAGCAACAGTGC	0.483																																					p.A72A		Atlas-SNP	.											.	FCRL6	61	.	0			c.A216T						PASS	.						55.0	48.0	51.0					1																	159778131		2203	4300	6503	SO:0001819	synonymous_variant	343413	exon3			GGGAGCAGCAACA	AK131201	CCDS30912.1, CCDS60312.1	1q23.2	2013-01-11			ENSG00000181036	ENSG00000181036		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	31910	protein-coding gene	gene with protein product		613562					Standard	NM_001004310		Approved	IFGP6, FLJ16056, FcRH6	uc001fud.4	Q6DN72	OTTHUMG00000035351	ENST00000368106.3:c.216A>T	chr1.hg19:g.159778131A>T		297.0	0.0	.		203.0	41.0	.	NM_001004310	A1KXW6|A2A4D6|Q6DN73|Q6XRC3|Q6ZNI1	Silent	SNP	ENST00000368106.3	hg19	CCDS30912.1																																																																																			.	.	.	none		0.483	FCRL6-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276853.1	NM_001004310	
TTN	7273	hgsc.bcm.edu	37	2	179456111	179456111	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:179456111G>T	ENST00000591111.1	-	254	55642	c.55418C>A	c.(55417-55419)aCc>aAc	p.T18473N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T20114N|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T17546N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11241N|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T11049N|TTN_ENST00000359218.5_Missense_Mutation_p.T11174N			Q8WZ42	TITIN_HUMAN	titin	18473	Ig-like 106.				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)			ACTCCCATCGGTTGTCCACTT	0.433																																					p.T20114N		Atlas-SNP	.											.	TTN	18412	.	0			c.C60341A						PASS	.						300.0	297.0	298.0					2																	179456111		1929	4129	6058	SO:0001583	missense	7273	exon304			CCATCGGTTGTCC	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.55418C>A	chr2.hg19:g.179456111G>T	ENSP00000465570:p.Thr18473Asn	51.0	0.0	.		65.0	22.0	.	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		.	.	.	.	.	.	.	.	.	.	G	13.04	2.118519	0.37436	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	6.1	3.21	0.36854	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41949	0.1181	L	0.49126	1.545	0.39154	D	0.962285	B;B;B;B	0.32653	0.379;0.379;0.379;0.379	B;B;B;B	0.33890	0.172;0.172;0.172;0.172	T	0.46569	-0.9182	9	0.87932	D	0	.	17.2594	0.87065	0.0:0.3531:0.6469:0.0	.	11049;11174;11241;18473	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17546;11049;11241;11174;11047	ENSP00000343764:T17546N;ENSP00000434586:T11049N;ENSP00000340554:T11241N;ENSP00000352154:T11174N	ENSP00000340554:T11241N	T	-	2	0	TTN	179164357	0.992000	0.36948	0.447000	0.26932	0.882000	0.50991	2.447000	0.44917	0.396000	0.25283	0.650000	0.86243	ACC	.	.	.	none		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
UGT1A3	54659	hgsc.bcm.edu	37	2	234638590	234638590	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:234638590T>C	ENST00000482026.1	+	1	837	c.818T>C	c.(817-819)aTg>aCg	p.M273T	UGT1A5_ENST00000373414.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.M273T|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000373450.4_Intron			P35503	UD13_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A3	273					cellular glucuronidation (GO:0052695)|flavonoid glucuronidation (GO:0052696)|metabolic process (GO:0008152)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|UDP-glycosyltransferase activity (GO:0008194)			breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)	Atorvastatin(DB01076)|Candesartan(DB00796)|Cyproheptadine(DB00434)|Eltrombopag(DB06210)|Etodolac(DB00749)|Ezetimibe(DB00973)|Ezogabine(DB04953)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Irbesartan(DB01029)|Lamotrigine(DB00555)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Pitavastatin(DB08860)|Simvastatin(DB00641)|Valproic Acid(DB00313)	ATGCCCAACATGGTCTTCATT	0.493																																					p.M273T		Atlas-SNP	.											.	UGT1A3	91	.	0			c.T818C						PASS	.						125.0	127.0	126.0					2																	234638590		2203	4300	6503	SO:0001583	missense	54659	exon1			CCAACATGGTCTT	M84127	CCDS2509.1	2q37	2010-03-05	2005-07-20		ENSG00000243135	ENSG00000243135		"""UDP glucuronosyltransferases"""	12535	other	complex locus constituent		606428	"""UDP glycosyltransferase 1 family, polypeptide A3"""			9295054, 1339448, 11434514	Standard	NM_019093		Approved	UGT1C		P35503	OTTHUMG00000059118	ENST00000482026.1:c.818T>C	chr2.hg19:g.234638590T>C	ENSP00000418532:p.Met273Thr	125.0	0.0	.		91.0	34.0	.	NM_019093	B8K287	Missense_Mutation	SNP	ENST00000482026.1	hg19	CCDS2509.1	.	.	.	.	.	.	.	.	.	.	t	15.28	2.787614	0.49997	.	.	ENSG00000243135	ENST00000482026	T	0.61392	0.11	4.0	4.0	0.46444	.	.	.	.	.	T	0.64605	0.2613	M	0.74258	2.255	0.39951	D	0.974548	B;B	0.30686	0.29;0.29	B;B	0.41299	0.353;0.353	T	0.69146	-0.5222	9	0.54805	T	0.06	.	12.938	0.58327	0.0:0.0:0.0:1.0	.	273;273	Q5DT01;P35503	.;UD13_HUMAN	T	273	ENSP00000418532:M273T	ENSP00000418532:M273T	M	+	2	0	UGT1A3	234303329	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.500000	0.53318	1.457000	0.47850	0.373000	0.22412	ATG	.	.	.	none		0.493	UGT1A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130983.1	NM_019093	
ESPNL	339768	hgsc.bcm.edu	37	2	239040220	239040220	+	Silent	SNP	C	C	T	rs190347409	byFrequency	TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:239040220C>T	ENST00000343063.3	+	9	3128	c.2865C>T	c.(2863-2865)gcC>gcT	p.A955A	ESPNL_ENST00000409506.1_Silent_p.A587A|ESPNL_ENST00000409169.1_Silent_p.A911A|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	955				A -> T (in Ref. 1; BAC85884). {ECO:0000305}.						endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTCACGCCGCCGTCCCCTGCA	0.687													C|||	9	0.00179712	0.0	0.0	5008	,	,		14478	0.0		0.001	False		,,,				2504	0.0082				p.A955A		Atlas-SNP	.											.	ESPNL	63	.	0			c.C2865T						PASS	.						17.0	18.0	18.0					2																	239040220		2196	4298	6494	SO:0001819	synonymous_variant	339768	exon9			CGCCGCCGTCCCC	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2865C>T	chr2.hg19:g.239040220C>T		72.0	0.0	.		60.0	26.0	.	NM_194312	Q66K27|Q6ZVG1|Q8IVU2	Silent	SNP	ENST00000343063.3	hg19	CCDS2525.1																																																																																			.	C|1.000;G|0.000	.	alt		0.687	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2	NM_194312	
BRPF1	7862	hgsc.bcm.edu	37	3	9788110	9788110	+	Missense_Mutation	SNP	G	G	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:9788110G>C	ENST00000457855.1	+	12	3444	c.3433G>C	c.(3433-3435)Gtc>Ctc	p.V1145L	BRPF1_ENST00000383829.2_Missense_Mutation_p.V1151L|BRPF1_ENST00000424362.1_Missense_Mutation_p.V1144L|BRPF1_ENST00000302054.3_Missense_Mutation_p.V1145L|BRPF1_ENST00000433861.2_Missense_Mutation_p.V1050L			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1145	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TCTCTACCTCGTCCTCTTCTT	0.567																																					p.V1151L		Atlas-SNP	.											.	BRPF1	104	.	0			c.G3451C						PASS	.						80.0	75.0	77.0					3																	9788110		2203	4300	6503	SO:0001583	missense	7862	exon13			TACCTCGTCCTCT	M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.3433G>C	chr3.hg19:g.9788110G>C	ENSP00000410210:p.Val1145Leu	87.0	0.0	.		68.0	25.0	.	NM_001003694	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	ENST00000457855.1	hg19	CCDS2575.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237373	0.79800	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000457855	D;D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02;-2.02	6.06	6.06	0.98353	PWWP (3);	0.000000	0.85682	D	0.000000	D	0.89694	0.6789	M	0.85197	2.74	0.80722	D	1	P;P;P;P	0.42735	0.676;0.788;0.788;0.723	B;B;B;B	0.43783	0.225;0.396;0.396;0.431	D	0.90510	0.4480	10	0.87932	D	0	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	1050;1144;1151;1145	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	L	1050;1144;1151;1145;1145	ENSP00000402485:V1050L;ENSP00000398863:V1144L;ENSP00000373340:V1151L;ENSP00000306297:V1145L;ENSP00000410210:V1145L	ENSP00000306297:V1145L	V	+	1	0	BRPF1	9763110	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.882000	0.98803	0.655000	0.94253	GTC	.	.	.	none		0.567	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338485.1	NM_001003694	
RARB	5915	hgsc.bcm.edu	37	3	25637915	25637915	+	Silent	SNP	A	A	T	rs61733682	byFrequency	TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:25637915A>T	ENST00000404969.1	+	8	1176	c.1176A>T	c.(1174-1176)gcA>gcT	p.A392A	RARB_ENST00000458646.1_Silent_p.A273A|RARB_ENST00000462272.1_3'UTR|RARB_ENST00000437042.2_Silent_p.A273A|RARB_ENST00000330688.4_Silent_p.A385A			P10826	RARB_HUMAN	retinoic acid receptor, beta	392	Ligand-binding.				embryonic digestive tract development (GO:0048566)|embryonic eye morphogenesis (GO:0048048)|embryonic hindlimb morphogenesis (GO:0035116)|gene expression (GO:0010467)|glandular epithelial cell development (GO:0002068)|growth plate cartilage development (GO:0003417)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|retinal pigment epithelium development (GO:0003406)|signal transduction (GO:0007165)|striatum development (GO:0021756)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ureteric bud development (GO:0001657)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAAAAGGTGCAGAGCGTGTAA	0.378																																					p.A385A		Atlas-SNP	.											.	RARB	123	.	0			c.A1155T						PASS	.						83.0	84.0	84.0					3																	25637915		2203	4300	6503	SO:0001819	synonymous_variant	5915	exon8			AGGTGCAGAGCGT	Y00291	CCDS2642.1, CCDS46775.1	3p24	2013-01-16			ENSG00000077092	ENSG00000077092		"""Nuclear hormone receptors"""	9865	protein-coding gene	gene with protein product		180220					Standard	NM_016152		Approved	HAP, NR1B2, RRB2	uc003cdh.3	P10826	OTTHUMG00000130480	ENST00000404969.1:c.1176A>T	chr3.hg19:g.25637915A>T		178.0	0.0	.		153.0	66.0	.	NM_000965	P12891|Q00989|Q15298|Q9UN48	Silent	SNP	ENST00000404969.1	hg19																																																																																				.	A|0.979;G|0.021	.	alt		0.378	RARB-201	KNOWN	basic	protein_coding	protein_coding		NM_000965, NM_016152	
FLNB	2317	hgsc.bcm.edu	37	3	58135898	58135898	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:58135898G>A	ENST00000295956.4	+	38	6476	c.6311G>A	c.(6310-6312)cGg>cAg	p.R2104Q	FLNB_ENST00000419752.2_Missense_Mutation_p.R1924Q|FLNB_ENST00000490882.1_Missense_Mutation_p.R2135Q|FLNB_ENST00000493452.1_Missense_Mutation_p.R1911Q|FLNB_ENST00000358537.3_Missense_Mutation_p.R2080Q|FLNB_ENST00000357272.4_Missense_Mutation_p.R2104Q|FLNB_ENST00000348383.5_Intron|FLNB_ENST00000429972.2_Missense_Mutation_p.R2093Q	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2104	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CGCACCAGTCGGGCCCCGTCC	0.612																																					p.R2135Q		Atlas-SNP	.											.	FLNB	430	.	0			c.G6404A						PASS	.						101.0	111.0	107.0					3																	58135898		2203	4300	6503	SO:0001583	missense	2317	exon39			CCAGTCGGGCCCC	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.6311G>A	chr3.hg19:g.58135898G>A	ENSP00000295956:p.Arg2104Gln	113.0	0.0	.		101.0	6.0	.	NM_001164317	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	hg19	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941726	0.34283	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D	0.85484	-1.92;-1.92;-1.93;-1.93;-1.99;-1.68;-1.67	6.17	6.17	0.99709	Immunoglobulin E-set (1);	0.113900	0.64402	D	0.000008	T	0.66268	0.2772	N	0.04880	-0.145	0.45477	D	0.998443	P;B;D;B;P;P	0.52996	0.808;0.22;0.957;0.359;0.922;0.922	B;B;B;B;B;B	0.39152	0.193;0.058;0.292;0.015;0.292;0.292	T	0.70930	-0.4738	10	0.06757	T	0.87	.	13.9957	0.64397	0.0685:0.0:0.9315:0.0	.	2080;2135;1911;1924;2093;2104	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Q	2104;2135;2080;2093;2104;1911;1924	ENSP00000295956:R2104Q;ENSP00000420213:R2135Q;ENSP00000351339:R2080Q;ENSP00000415599:R2093Q;ENSP00000349819:R2104Q;ENSP00000418510:R1911Q;ENSP00000414532:R1924Q	ENSP00000295956:R2104Q	R	+	2	0	FLNB	58110938	1.000000	0.71417	1.000000	0.80357	0.691000	0.40173	2.419000	0.44671	2.941000	0.99782	0.655000	0.94253	CGG	.	.	.	none		0.612	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457	
SHQ1	55164	hgsc.bcm.edu	37	3	72881545	72881545	+	Missense_Mutation	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:72881545C>T	ENST00000325599.8	-	5	713	c.574G>A	c.(574-576)Gcc>Acc	p.A192T	SHQ1_ENST00000463369.1_Missense_Mutation_p.A164T	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	192					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAAACTTGGCCAGCTCAGCG	0.383																																					p.A192T		Atlas-SNP	.											.	SHQ1	60	.	0			c.G574A						PASS	.						71.0	78.0	76.0					3																	72881545		2203	4300	6503	SO:0001583	missense	55164	exon5			ACTTGGCCAGCTC	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.574G>A	chr3.hg19:g.72881545C>T	ENSP00000315182:p.Ala192Thr	197.0	0.0	.		179.0	24.0	.	NM_018130	B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	hg19	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970048	0.53614	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	T;T;T	0.46063	0.88;0.88;0.88	5.95	4.1	0.47936	.	0.237159	0.42548	N	0.000699	T	0.34193	0.0889	M	0.62016	1.91	0.47547	D	0.999451	P	0.40360	0.714	B	0.34180	0.177	T	0.13229	-1.0517	10	0.15952	T	0.53	-3.5238	10.9513	0.47332	0.0:0.7981:0.1303:0.0717	.	192	Q6PI26	SHQ1_HUMAN	T	192;164;103	ENSP00000315182:A192T;ENSP00000417452:A164T;ENSP00000418398:A103T	ENSP00000315182:A192T	A	-	1	0	SHQ1	72964235	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	1.403000	0.34612	1.519000	0.48950	0.585000	0.79938	GCC	.	.	.	none		0.383	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130	
MCF2L2	23101	hgsc.bcm.edu	37	3	183017880	183017880	+	Silent	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:183017880C>T	ENST00000328913.3	-	11	1515	c.1218G>A	c.(1216-1218)agG>agA	p.R406R	MCF2L2_ENST00000473233.1_Silent_p.R406R|MCF2L2_ENST00000447025.2_Silent_p.R406R|MCF2L2_ENST00000414362.2_Silent_p.R406R	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	406							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CACAGAGGTGCCTGAGCTCCA	0.507																																					p.R406R		Atlas-SNP	.											.	MCF2L2	164	.	0			c.G1218A						PASS	.						104.0	98.0	100.0					3																	183017880		2203	4300	6503	SO:0001819	synonymous_variant	23101	exon11			GAGGTGCCTGAGC	AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1218G>A	chr3.hg19:g.183017880C>T		69.0	0.0	.		53.0	8.0	.	NM_015078	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	ENST00000328913.3	hg19	CCDS3243.1																																																																																			.	.	.	none		0.507	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350868.1	NM_015078	
SLIT2	9353	hgsc.bcm.edu	37	4	20258328	20258328	+	Silent	SNP	G	G	C	rs377588103		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr4:20258328G>C	ENST00000504154.1	+	2	465	c.213G>C	c.(211-213)acG>acC	p.T71T	SLIT2_ENST00000273739.5_Silent_p.T71T|SLIT2_ENST00000503823.1_Silent_p.T71T|SLIT2_ENST00000503837.1_Silent_p.T71T	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	71					apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAAGAATTACGAAGACAGATT	0.299																																					p.T71T		Atlas-SNP	.											SLIT2,colon,carcinoma,0,2	SLIT2	290	.	0			c.G213C						PASS	.						87.0	94.0	92.0					4																	20258328		2203	4297	6500	SO:0001819	synonymous_variant	9353	exon2			AATTACGAAGACA	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.213G>C	chr4.hg19:g.20258328G>C		158.0	0.0	.		139.0	16.0	.	NM_004787	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	ENST00000504154.1	hg19	CCDS3426.1																																																																																			.	.	.	alt		0.299	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2		
SNCAIP	9627	hgsc.bcm.edu	37	5	121780389	121780389	+	Silent	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr5:121780389G>T	ENST00000261368.8	+	8	1816	c.1554G>T	c.(1552-1554)ctG>ctT	p.L518L	CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379533.2_Silent_p.L565L|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379536.2_Silent_p.L458L|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Silent_p.L76L|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000261367.7_Silent_p.L565L|SNCAIP_ENST00000379538.3_Silent_p.L152L|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000414317.2_Silent_p.L120L|CTC-210G5.1_ENST00000509993.1_RNA	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	518					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		GCATGTCGCTGGCCTCTCAAG	0.552																																					p.L518L		Atlas-SNP	.											.	SNCAIP	308	.	0			c.G1554T						PASS	.						80.0	77.0	78.0					5																	121780389		2203	4300	6503	SO:0001819	synonymous_variant	9627	exon8			GTCGCTGGCCTCT	AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1554G>T	chr5.hg19:g.121780389G>T		89.0	0.0	.		68.0	10.0	.	NM_005460	D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Silent	SNP	ENST00000261368.8	hg19	CCDS4131.1																																																																																			.	.	.	none		0.552	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250888.1		
PCDHGB3	56102	hgsc.bcm.edu	37	5	140752308	140752308	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr5:140752308G>T	ENST00000576222.1	+	1	2478	c.2347G>T	c.(2347-2349)Gat>Tat	p.D783Y	PCDHGA3_ENST00000253812.6_Intron|PCDHGA6_ENST00000517434.1_5'Flank|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3	783					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCTATGTGATGAAGCCTC	0.378																																					p.D783Y		Atlas-SNP	.											.	PCDHGB3	168	.	0			c.G2347T						PASS	.						58.0	53.0	55.0					5																	140752308		1866	4110	5976	SO:0001583	missense	56102	exon1			CTATGTGATGAAG	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2347G>T	chr5.hg19:g.140752308G>T	ENSP00000461862:p.Asp783Tyr	99.0	0.0	.		68.0	22.0	.	NM_018924	A7E229|Q9Y5C7	Missense_Mutation	SNP	ENST00000576222.1	hg19	CCDS58980.1																																																																																			.	.	.	none		0.378	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924	
XPO5	57510	hgsc.bcm.edu	37	6	43498437	43498437	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:43498437C>G	ENST00000265351.7	-	23	2876	c.2666G>C	c.(2665-2667)aGa>aCa	p.R889T		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	889					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			AAGCATGGGTCTGAGTCGGTA	0.453																																					p.R889T		Atlas-SNP	.											.	XPO5	79	.	0			c.G2666C						PASS	.						112.0	106.0	108.0					6																	43498437		1922	4141	6063	SO:0001583	missense	57510	exon23			ATGGGTCTGAGTC	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.2666G>C	chr6.hg19:g.43498437C>G	ENSP00000265351:p.Arg889Thr	81.0	0.0	.		59.0	20.0	.	NM_020750	Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	hg19	CCDS47430.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.247509	0.80024	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.70869	-0.52	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.052809	0.64402	D	0.000001	T	0.65554	0.2702	M	0.68593	2.085	0.58432	D	0.999996	P	0.46706	0.883	B	0.40375	0.327	T	0.72808	-0.4181	10	0.72032	D	0.01	-16.8308	20.1133	0.97917	0.0:1.0:0.0:0.0	.	889	Q9HAV4	XPO5_HUMAN	T	889;594;429;517	ENSP00000265351:R889T	ENSP00000265351:R889T	R	-	2	0	XPO5	43606415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.630000	0.67805	2.762000	0.94881	0.591000	0.81541	AGA	.	.	.	none		0.453	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750	
HCRTR2	3062	hgsc.bcm.edu	37	6	55142245	55142245	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:55142245G>A	ENST00000370862.3	+	5	1166	c.830G>A	c.(829-831)gGg>gAg	p.G277E		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	277					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CAGCCTCGAGGGCCAGGACAG	0.517																																					p.G277E		Atlas-SNP	.											.	HCRTR2	112	.	0			c.G830A						PASS	.						72.0	75.0	74.0					6																	55142245		2203	4300	6503	SO:0001583	missense	3062	exon5			CTCGAGGGCCAGG	AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.830G>A	chr6.hg19:g.55142245G>A	ENSP00000359899:p.Gly277Glu	161.0	0.0	.		125.0	26.0	.	NM_001526	Q5VTM0	Missense_Mutation	SNP	ENST00000370862.3	hg19	CCDS4956.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818157	0.71028	.	.	ENSG00000137252	ENST00000370862	T	0.63255	-0.03	5.84	4.05	0.47172	GPCR, rhodopsin-like superfamily (1);	0.326969	0.35320	N	0.003299	T	0.55194	0.1905	M	0.78801	2.425	0.49582	D	0.999802	B	0.34241	0.444	B	0.41571	0.36	T	0.56968	-0.7891	10	0.38643	T	0.18	.	12.8874	0.58051	0.0:0.1242:0.7463:0.1294	.	277	O43614	OX2R_HUMAN	E	277	ENSP00000359899:G277E	ENSP00000359899:G277E	G	+	2	0	HCRTR2	55250204	0.973000	0.33851	0.621000	0.29145	0.603000	0.37013	1.636000	0.37144	0.802000	0.34089	0.650000	0.86243	GGG	.	.	.	none		0.517	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043392.1		
KHDRBS2	202559	hgsc.bcm.edu	37	6	62604622	62604622	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:62604622G>A	ENST00000281156.4	-	6	1006	c.728C>T	c.(727-729)cCt>cTt	p.P243L		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	243	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)	p.P243L(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCGAGGGGTAGGGACACCTCT	0.577																																					p.P243L		Atlas-SNP	.											KHDRBS2,NS,carcinoma,0,1	KHDRBS2	103	.	1	Substitution - Missense(1)	lung(1)	c.C728T						PASS	.						56.0	56.0	56.0					6																	62604622		2203	4300	6503	SO:0001583	missense	202559	exon6			GGGGTAGGGACAC	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.728C>T	chr6.hg19:g.62604622G>A	ENSP00000281156:p.Pro243Leu	69.0	0.0	.		65.0	10.0	.	NM_152688	A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	hg19	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634280	0.29068	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.43688	0.94	5.52	5.52	0.82312	.	0.169262	0.52532	D	0.000068	T	0.21347	0.0514	N	0.25201	0.72	0.53688	D	0.99997	B	0.06786	0.001	B	0.06405	0.002	T	0.02358	-1.1171	10	0.42905	T	0.14	-0.0854	19.7889	0.96450	0.0:0.0:1.0:0.0	.	243	Q5VWX1	KHDR2_HUMAN	L	243	ENSP00000281156:P243L	ENSP00000281156:P243L	P	-	2	0	KHDRBS2	62662581	1.000000	0.71417	0.965000	0.40720	0.996000	0.88848	7.731000	0.84895	2.734000	0.93682	0.655000	0.94253	CCT	.	.	.	none		0.577	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688	
UTRN	7402	hgsc.bcm.edu	37	6	144811284	144811284	+	Silent	SNP	C	C	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:144811284C>A	ENST00000367545.3	+	30	4212	c.4212C>A	c.(4210-4212)acC>acA	p.T1404T		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1404	Interaction with SYNM.				aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCCCCTGACCTCCCCAGAGA	0.468																																					p.T1404T		Atlas-SNP	.											.	UTRN	327	.	0			c.C4212A						PASS	.						82.0	88.0	86.0					6																	144811284		2203	4300	6503	SO:0001819	synonymous_variant	7402	exon30			CCTGACCTCCCCA	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.4212C>A	chr6.hg19:g.144811284C>A		82.0	0.0	.		82.0	20.0	.	NM_007124	Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	hg19	CCDS34547.1																																																																																			.	.	.	none		0.468	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1		
AKAP12	9590	hgsc.bcm.edu	37	6	151674035	151674035	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:151674035G>T	ENST00000253332.1	+	3	4698	c.4509G>T	c.(4507-4509)gaG>gaT	p.E1503D	AKAP12_ENST00000402676.2_Missense_Mutation_p.E1503D|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1398D|AKAP12_ENST00000354675.6_Missense_Mutation_p.E1405D			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1503					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TGGAAGGAGAGAAAACCACAT	0.483																																					p.E1503D	Melanoma(141;1616 1805 10049 24534 51979)	Atlas-SNP	.											.	AKAP12	170	.	0			c.G4509T						PASS	.						104.0	104.0	104.0					6																	151674035		2203	4300	6503	SO:0001583	missense	9590	exon4			AGGAGAGAAAACC	U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4509G>T	chr6.hg19:g.151674035G>T	ENSP00000253332:p.Glu1503Asp	53.0	0.0	.		54.0	16.0	.	NM_005100	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	ENST00000253332.1	hg19	CCDS5229.1	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803473	0.16397	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.06528	3.29;3.29;3.32;3.32	4.89	-7.41	0.01392	.	0.486247	0.15127	N	0.279075	T	0.00580	0.0019	N	0.11201	0.11	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.001	T	0.46652	-0.9176	10	0.20519	T	0.43	.	0.6764	0.00867	0.2365:0.3173:0.1924:0.2538	.	1398;1405;1503	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	D	1503;1503;1405;1398	ENSP00000384537:E1503D;ENSP00000253332:E1503D;ENSP00000346702:E1405D;ENSP00000352794:E1398D	ENSP00000253332:E1503D	E	+	3	2	AKAP12	151715728	0.000000	0.05858	0.002000	0.10522	0.478000	0.33099	-2.638000	0.00866	-0.945000	0.03681	0.650000	0.86243	GAG	.	.	.	none		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042712.1		
MLLT4	4301	hgsc.bcm.edu	37	6	168347513	168347513	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr6:168347513A>G	ENST00000447894.2	+	26	3464	c.3464A>G	c.(3463-3465)aAg>aGg	p.K1155R	MLLT4_ENST00000392108.3_Missense_Mutation_p.K1155R|MLLT4_ENST00000507679.1_3'UTR|MLLT4_ENST00000366806.2_Missense_Mutation_p.K1155R|MLLT4_ENST00000392112.1_Missense_Mutation_p.K1138R|MLLT4_ENST00000351017.4_Missense_Mutation_p.K1162R|MLLT4_ENST00000400822.3_Missense_Mutation_p.K1154R|MLLT4_ENST00000344191.4_Missense_Mutation_p.K1155R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1155					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTGAACCAAAGAAATTGCCT	0.448			T	MLL	AL																																p.K1155R		Atlas-SNP	.		Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	.	MLLT4	351	.	0			c.A3464G						PASS	.						122.0	126.0	125.0					6																	168347513		2203	4300	6503	SO:0001583	missense	4301	exon26			AACCAAAGAAATT	AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.3464A>G	chr6.hg19:g.168347513A>G	ENSP00000404595:p.Lys1155Arg	93.0	0.0	.		76.0	17.0	.	NM_001040000	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	hg19		.	.	.	.	.	.	.	.	.	.	A	22.2	4.253254	0.80135	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04809	3.78;3.68;3.77;3.76;3.55;3.67;3.68	5.36	4.19	0.49359	.	0.056942	0.64402	D	0.000001	T	0.08670	0.0215	M	0.72479	2.2	0.53005	D	0.999969	P;D;P;P	0.76494	0.539;0.999;0.663;0.89	B;D;B;B	0.85130	0.132;0.997;0.159;0.374	T	0.28073	-1.0055	10	0.16896	T	0.51	-4.4903	11.4921	0.50387	0.929:0.0:0.071:0.0	.	1155;1154;1155;1139	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	R	1155;1162;1155;1155;1138;1155;1154;1155	ENSP00000341118:K1155R;ENSP00000252692:K1162R;ENSP00000375956:K1155R;ENSP00000355771:K1155R;ENSP00000375960:K1138R;ENSP00000383623:K1154R;ENSP00000404595:K1155R	ENSP00000345834:K1155R	K	+	2	0	MLLT4	168090362	1.000000	0.71417	0.926000	0.36857	0.909000	0.53808	6.763000	0.74955	0.965000	0.38133	0.533000	0.62120	AAG	.	.	.	none		0.448	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1	NM_005936	
FGL2	10875	hgsc.bcm.edu	37	7	76826164	76826164	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:76826164C>G	ENST00000248598.5	-	2	784	c.752G>C	c.(751-753)tGg>tCg	p.W251S	CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron|RP11-467H10.2_ENST00000459742.1_RNA	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	251	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CAGCACTGTCCAGCCTCCCCC	0.493																																					p.W251S		Atlas-SNP	.											.	FGL2	40	.	0			c.G752C						PASS	.						112.0	107.0	108.0					7																	76826164		2203	4300	6503	SO:0001583	missense	10875	exon2			ACTGTCCAGCCTC	Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.752G>C	chr7.hg19:g.76826164C>G	ENSP00000248598:p.Trp251Ser	125.0	0.0	.		136.0	38.0	.	NM_006682		Missense_Mutation	SNP	ENST00000248598.5	hg19	CCDS5591.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215375	0.79352	.	.	ENSG00000127951	ENST00000248598	D	0.91686	-2.89	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.97739	0.9258	H	0.96889	3.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98417	1.0575	10	0.87932	D	0	.	19.8132	0.96556	0.0:1.0:0.0:0.0	.	251	Q14314	FGL2_HUMAN	S	251	ENSP00000248598:W251S	ENSP00000248598:W251S	W	-	2	0	FGL2	76664100	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.785000	0.95823	0.655000	0.94253	TGG	.	.	.	none		0.493	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253176.1	NM_006682	
SRPK2	6733	hgsc.bcm.edu	37	7	104783659	104783659	+	Missense_Mutation	SNP	T	T	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:104783659T>G	ENST00000393651.3	-	10	1019	c.932A>C	c.(931-933)aAa>aCa	p.K311T	SRPK2_ENST00000489828.1_Missense_Mutation_p.K300T|SRPK2_ENST00000357311.3_Missense_Mutation_p.K300T	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TTCTATTATTTTCCTTTCAGC	0.433																																					p.K311T		Atlas-SNP	.											.	SRPK2	76	.	0			c.A932C						PASS	.						132.0	117.0	122.0					7																	104783659		2203	4300	6503	SO:0001583	missense	6733	exon10			ATTATTTTCCTTT	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.932A>C	chr7.hg19:g.104783659T>G	ENSP00000377262:p.Lys311Thr	99.0	0.0	.		85.0	24.0	.	NM_182692		Missense_Mutation	SNP	ENST00000393651.3	hg19	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.603271	0.66445	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828	T;T;T	0.31510	1.49;1.5;1.5	5.68	5.68	0.88126	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.191930	0.44483	D	0.000456	T	0.27063	0.0663	N	0.16478	0.41	0.51012	D	0.999906	P;P	0.51933	0.949;0.808	P;B	0.49085	0.6;0.201	T	0.03630	-1.1018	10	0.18710	T	0.47	-23.6027	15.9347	0.79694	0.0:0.0:0.0:1.0	.	311;300	P78362-2;P78362	.;SRPK2_HUMAN	T	311;300;300	ENSP00000377262:K311T;ENSP00000349863:K300T;ENSP00000419791:K300T	ENSP00000349863:K300T	K	-	2	0	SRPK2	104570895	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.834000	0.55798	2.167000	0.68274	0.454000	0.30748	AAA	.	.	.	none		0.433	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691	
IQUB	154865	hgsc.bcm.edu	37	7	123152366	123152366	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:123152366G>T	ENST00000466202.1	-	2	605	c.29C>A	c.(28-30)gCt>gAt	p.A10D	IQUB_ENST00000324698.6_Missense_Mutation_p.A10D|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.A10D	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	10					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TATATTCTGAGCTTCATACTT	0.333																																					p.A10D		Atlas-SNP	.											.	IQUB	117	.	0			c.C29A						PASS	.						79.0	78.0	78.0					7																	123152366		2203	4300	6503	SO:0001583	missense	154865	exon2			TTCTGAGCTTCAT	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.29C>A	chr7.hg19:g.123152366G>T	ENSP00000417769:p.Ala10Asp	50.0	0.0	.		63.0	13.0	.	NM_178827	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Missense_Mutation	SNP	ENST00000466202.1	hg19	CCDS5787.1	.	.	.	.	.	.	.	.	.	.	G	8.113	0.779300	0.16120	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	T;T;T	0.51071	1.75;1.75;0.72	4.04	-0.916	0.10489	.	5.141830	0.00397	N	0.000040	T	0.30355	0.0762	L	0.27053	0.805	0.09310	N	1	B;P;P	0.43701	0.392;0.815;0.718	B;B;B	0.36885	0.095;0.235;0.086	T	0.14839	-1.0458	10	0.29301	T	0.29	.	3.4549	0.07511	0.3929:0.0:0.4308:0.1763	.	10;10;10	A1A4Z1;Q8NA54-2;Q8NA54	.;.;IQUB_HUMAN	D	10	ENSP00000417769:A10D;ENSP00000324882:A10D;ENSP00000388498:A10D	ENSP00000324882:A10D	A	-	2	0	IQUB	122939602	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.095000	0.11077	-0.190000	0.10465	-0.262000	0.10625	GCT	.	.	.	none		0.333	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348529.1	NM_178827	
CCDC136	64753	hgsc.bcm.edu	37	7	128452883	128452883	+	Missense_Mutation	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:128452883A>T	ENST00000297788.4	+	14	3030	c.2663A>T	c.(2662-2664)cAg>cTg	p.Q888L	CCDC136_ENST00000464832.1_Intron|CCDC136_ENST00000487361.1_Intron|CCDC136_ENST00000378685.4_Intron	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	888						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						CTGGCCAAGCAGAAAGACCTG	0.527																																					p.Q888L		Atlas-SNP	.											.	CCDC136	170	.	0			c.A2663T						PASS	.						58.0	61.0	60.0					7																	128452883		1971	4163	6134	SO:0001583	missense	64753	exon14			CCAAGCAGAAAGA		CCDS47704.1, CCDS56510.1	7q33	2007-08-01			ENSG00000128596	ENSG00000128596			22225	protein-coding gene	gene with protein product		611902				15112360	Standard	NM_022742		Approved	KIAA1793, NAG6, DKFZP434G156	uc003vnv.2	Q96JN2	OTTHUMG00000158310	ENST00000297788.4:c.2663A>T	chr7.hg19:g.128452883A>T	ENSP00000297788:p.Gln888Leu	37.0	0.0	.		40.0	15.0	.	NM_022742	A4D1K1|A7MCY7|A8MYA7|Q6ZVK7|Q9H8M3|Q9UFE1	Missense_Mutation	SNP	ENST00000297788.4	hg19	CCDS47704.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.99|15.99	2.996429|2.996429	0.54147|0.54147	.|.	.|.	ENSG00000128596|ENSG00000128596	ENST00000297788;ENST00000397697;ENST00000320524;ENST00000464672|ENST00000494552	T|.	0.31769|.	1.48|.	5.6|5.6	4.38|4.38	0.52667|0.52667	.|.	0.105029|.	0.42821|.	D|.	0.000649|.	T|.	0.48857|.	0.1523|.	L|L	0.52126|0.52126	1.63|1.63	0.32437|0.32437	N|N	0.547286|0.547286	B;B;P|.	0.40638|.	0.297;0.129;0.725|.	B;B;P|.	0.48166|.	0.189;0.067;0.569|.	T|.	0.57388|.	-0.7820|.	10|.	0.21540|.	T|.	0.41|.	-30.5478|-30.5478	9.3378|9.3378	0.38060|0.38060	0.8402:0.0:0.0:0.1598|0.8402:0.0:0.0:0.1598	.|.	888;888;888|.	Q96JN2-4;Q96JN2-2;Q96JN2|.	.;.;CC136_HUMAN|.	L|X	888;888;888;479|765	ENSP00000297788:Q888L|.	ENSP00000297788:Q888L|.	Q|R	+|+	2|1	0|2	CCDC136|CCDC136	128240119|128240119	1.000000|1.000000	0.71417|0.71417	0.889000|0.889000	0.34880|0.34880	0.017000|0.017000	0.09413|0.09413	2.557000|2.557000	0.45871|0.45871	2.257000|2.257000	0.74773|0.74773	0.533000|0.533000	0.62120|0.62120	CAG|AGA	.	.	.	none		0.527	CCDC136-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350641.1	NM_022742	
KCNH2	3757	hgsc.bcm.edu	37	7	150649865	150649865	+	Missense_Mutation	SNP	T	T	C	rs199473506		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:150649865T>C	ENST00000262186.5	-	6	1606	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	KCNH2_ENST00000330883.4_Missense_Mutation_p.H62R|KCNH2_ENST00000430723.3_Missense_Mutation_p.H402R|KCNH2_ENST00000392968.2_Missense_Mutation_p.H306R	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	402					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	GGGGCTGTAATGCAGGATGGT	0.642																																					p.H402R	GBM(137;110 1844 13671 20123 45161)	Atlas-SNP	.											.	KCNH2	157	.	0			c.A1205G						PASS	.						133.0	110.0	118.0					7																	150649865		2203	4300	6503	SO:0001583	missense	3757	exon6			CTGTAATGCAGGA	U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1205A>G	chr7.hg19:g.150649865T>C	ENSP00000262186:p.His402Arg	71.0	0.0	.		58.0	16.0	.	NM_000238	A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	ENST00000262186.5	hg19	CCDS5910.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.546889	0.86022	.	.	ENSG00000055118	ENST00000330883;ENST00000392968;ENST00000262186;ENST00000350328;ENST00000430723	D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36	4.82	4.82	0.62117	.	0.052173	0.85682	D	0.000000	D	0.98729	0.9573	H	0.94620	3.56	0.49798	D	0.999825	D;D;B;P;D	0.89917	0.993;1.0;0.2;0.691;0.963	D;D;B;B;P	0.80764	0.977;0.994;0.167;0.414;0.781	D	0.99497	1.0952	10	0.72032	D	0.01	.	12.3518	0.55153	0.0:0.0:0.0:1.0	.	306;402;62;402;62	C4PFH9;G5E9I0;Q708S9;Q12809;Q12809-2	.;.;.;KCNH2_HUMAN;.	R	62;306;402;62;402	ENSP00000328531:H62R;ENSP00000376695:H306R;ENSP00000262186:H402R;ENSP00000387657:H402R	ENSP00000262186:H402R	H	-	2	0	KCNH2	150280798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.892000	0.87324	1.820000	0.53075	0.459000	0.35465	CAT	.	.	.	weak		0.642	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350741.2	NM_000238	
KMT2C	58508	hgsc.bcm.edu	37	7	151878422	151878422	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr7:151878422T>C	ENST00000262189.6	-	36	6741	c.6523A>G	c.(6523-6525)Agt>Ggt	p.S2175G	KMT2C_ENST00000355193.2_Missense_Mutation_p.S2175G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2175	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GGCTGCTGACTATATGGGTCA	0.468																																					p.S2175G		Atlas-SNP	.											.	MLL3	1564	.	0			c.A6523G						PASS	.						125.0	125.0	125.0					7																	151878422		2203	4300	6503	SO:0001583	missense	58508	exon36			GCTGACTATATGG	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.6523A>G	chr7.hg19:g.151878422T>C	ENSP00000262189:p.Ser2175Gly	196.0	0.0	.		206.0	64.0	.	NM_170606	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	hg19	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	9.208	1.030201	0.19512	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.84800	-1.89;-1.9	5.51	2.94	0.34122	.	0.600694	0.14603	N	0.309499	T	0.80618	0.4657	L	0.59436	1.845	0.51012	D	0.999901	B;B	0.19200	0.001;0.034	B;B	0.24394	0.001;0.053	T	0.74022	-0.3798	10	0.38643	T	0.18	.	6.6601	0.23009	0.2679:0.0:0.1394:0.5927	.	2175;1236	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	G	2175	ENSP00000262189:S2175G;ENSP00000347325:S2175G	ENSP00000262189:S2175G	S	-	1	0	MLL3	151509355	0.026000	0.19158	0.794000	0.32065	0.870000	0.49936	0.688000	0.25422	0.892000	0.36259	0.533000	0.62120	AGT	.	.	.	none		0.468	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3		
NEFL	4747	hgsc.bcm.edu	37	8	24813060	24813060	+	RNA	SNP	C	C	A	rs267607537		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr8:24813060C>A	ENST00000221169.5	-	0	1564				CTD-2168K21.2_ENST00000607735.1_RNA			P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport (GO:0008089)|axon transport of mitochondrion (GO:0019896)|cell death (GO:0008219)|intermediate filament organization (GO:0045109)|locomotion (GO:0040011)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of neuron apoptotic process (GO:0043524)|neurofilament bundle assembly (GO:0033693)|neuromuscular process controlling balance (GO:0050885)|neuron projection morphogenesis (GO:0048812)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of axonogenesis (GO:0050772)|protein polymerization (GO:0051258)|regulation of axon diameter (GO:0031133)|response to corticosterone (GO:0051412)|response to peptide hormone (GO:0043434)|response to toxic substance (GO:0009636)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|neurofilament (GO:0005883)	identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|protein C-terminus binding (GO:0008022)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TCATTCATGCCCCGGCATGCT	0.642																																					p.G324C		Atlas-SNP	.											.	NEFL	47	.	0			c.G970T						PASS	.						51.0	53.0	52.0					8																	24813060		2088	4204	6292			4747	exon1			TCATGCCCCGGCA		CCDS75712.1	8p21.2	2014-09-17	2008-09-19		ENSG00000104725	ENSG00000277586		"""Intermediate filaments type IV"""	7739	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 110"""	162280	"""neurofilament, light polypeptide 68kDa"""			17620486, 3145240	Standard	NM_006158		Approved	NFL, CMT1F, CMT2E, NF68, PPP1R110	uc003xee.4	P07196	OTTHUMG00000134284		chr8.hg19:g.24813060C>A		63.0	0.0	.		54.0	10.0	.	NM_006158	B9ZVN2|Q16154|Q8IU72	Missense_Mutation	SNP	ENST00000221169.5	hg19																																																																																				.	.	.	none		0.642	NEFL-001	KNOWN	sequence_error|basic	processed_transcript	processed_transcript	OTTHUMT00000258943.4	NM_006158	
SULF1	23213	hgsc.bcm.edu	37	8	70515847	70515847	+	Silent	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr8:70515847C>T	ENST00000260128.4	+	12	1920	c.1203C>T	c.(1201-1203)aaC>aaT	p.N401N	SULF1_ENST00000402687.4_Silent_p.N401N|SULF1_ENST00000419716.3_Silent_p.N401N|SULF1_ENST00000458141.2_Silent_p.N401N|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	401					apoptotic process (GO:0006915)|bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of prostatic bud formation (GO:0060686)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTCGAACAAACAAGAAGGCCA	0.418																																					p.N401N		Atlas-SNP	.											.	SULF1	153	.	0			c.C1203T						PASS	.						106.0	103.0	104.0					8																	70515847		2203	4300	6503	SO:0001819	synonymous_variant	23213	exon12			AACAAACAAGAAG	AB029000	CCDS6204.1	8q13.2	2014-09-11			ENSG00000137573	ENSG00000137573			20391	protein-coding gene	gene with protein product		610012				12368295	Standard	NM_015170		Approved	KIAA1077, SULF-1	uc003xyd.2	Q8IWU6	OTTHUMG00000164466	ENST00000260128.4:c.1203C>T	chr8.hg19:g.70515847C>T		119.0	0.0	.		116.0	18.0	.	NM_001128205	Q86YV8|Q8NCA2|Q9UPS5	Silent	SNP	ENST00000260128.4	hg19	CCDS6204.1																																																																																			.	.	.	none		0.418	SULF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378885.2	NM_015170	
UBR5	51366	hgsc.bcm.edu	37	8	103266727	103266727	+	Missense_Mutation	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr8:103266727A>T	ENST00000520539.1	-	59	8809	c.8203T>A	c.(8203-8205)Tca>Aca	p.S2735T	UBR5_ENST00000518205.1_Missense_Mutation_p.S463T|UBR5_ENST00000521922.1_Missense_Mutation_p.S2728T|UBR5_ENST00000220959.4_Missense_Mutation_p.S2734T|KB-431C1.4_ENST00000520820.1_RNA|KB-431C1.5_ENST00000606361.1_RNA|KB-431C1.4_ENST00000499653.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2735	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			GATGGGCTTGATGTCCAAAAG	0.393																																					p.S2735T	Ovarian(131;96 1741 5634 7352 27489)	Atlas-SNP	.											.	UBR5	285	.	0			c.T8203A						PASS	.						125.0	114.0	118.0					8																	103266727		2203	4300	6503	SO:0001583	missense	51366	exon59			GGCTTGATGTCCA	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.8203T>A	chr8.hg19:g.103266727A>T	ENSP00000429084:p.Ser2735Thr	102.0	0.0	.		112.0	38.0	.	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	ENST00000520539.1	hg19	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	A	19.37	3.814109	0.70912	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000518205;ENST00000521922	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	5.64	5.64	0.86602	HECT (4);	0.000000	0.64402	D	0.000001	T	0.64702	0.2622	M	0.86097	2.795	0.58432	D	0.999999	D;D	0.53151	0.958;0.958	P;P	0.57283	0.817;0.817	T	0.71361	-0.4616	10	0.72032	D	0.01	.	15.8548	0.78968	1.0:0.0:0.0:0.0	.	2728;2735	E7EMW7;O95071	.;UBR5_HUMAN	T	2735;2734;463;2728	ENSP00000429084:S2735T;ENSP00000220959:S2734T;ENSP00000428693:S463T;ENSP00000427819:S2728T	ENSP00000220959:S2734T	S	-	1	0	UBR5	103335903	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.169000	0.94788	2.138000	0.66242	0.460000	0.39030	TCA	.	.	.	none		0.393	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
PTPRD	5789	hgsc.bcm.edu	37	9	8341221	8341221	+	Missense_Mutation	SNP	A	A	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr9:8341221A>C	ENST00000381196.4	-	38	5538	c.4995T>G	c.(4993-4995)aaT>aaG	p.N1665K	PTPRD_ENST00000540109.1_Missense_Mutation_p.N1665K|PTPRD_ENST00000356435.5_Missense_Mutation_p.N1665K|PTPRD_ENST00000397611.3_Missense_Mutation_p.N1255K|PTPRD_ENST00000537002.1_Missense_Mutation_p.N1255K|PTPRD_ENST00000360074.4_Missense_Mutation_p.N1652K|PTPRD_ENST00000358503.5_Missense_Mutation_p.N1643K|PTPRD_ENST00000355233.5_Missense_Mutation_p.N1259K|PTPRD_ENST00000486161.1_Missense_Mutation_p.N1258K|PTPRD_ENST00000397606.3_Missense_Mutation_p.N1258K|PTPRD_ENST00000397617.3_Missense_Mutation_p.N1258K	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1665	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TACATGGAAGATTGGCACTGA	0.388										TSP Lung(15;0.13)																											p.N1665K		Atlas-SNP	.											.	PTPRD	1348	.	0			c.T4995G						PASS	.						177.0	194.0	188.0					9																	8341221		2203	4300	6503	SO:0001583	missense	5789	exon41			TGGAAGATTGGCA	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4995T>G	chr9.hg19:g.8341221A>C	ENSP00000370593:p.Asn1665Lys	96.0	0.0	.		83.0	21.0	.	NM_002839	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	hg19	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	A	13.81	2.347906	0.41599	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.10860	2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83;2.83	6.07	4.93	0.64822	Protein-tyrosine phosphatase, receptor/non-receptor type (2);	0.094396	0.64402	D	0.000001	T	0.11452	0.0279	L	0.41632	1.29	0.54753	D	0.999983	P;P;P;P;P;P;P;P;P	0.52842	0.525;0.525;0.525;0.525;0.58;0.656;0.956;0.892;0.615	B;B;B;B;B;B;B;B;B	0.43701	0.014;0.014;0.014;0.014;0.176;0.031;0.428;0.266;0.085	T	0.07139	-1.0788	9	.	.	.	.	12.3228	0.54993	0.9341:0.0:0.0659:0.0	.	1258;1249;1258;1259;1255;1255;1652;1665;1665	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	K	1665;1665;1652;1643;1259;1258;1255;1255;1136;1665;1258;1258	ENSP00000370593:N1665K;ENSP00000348812:N1665K;ENSP00000353187:N1652K;ENSP00000351293:N1643K;ENSP00000347373:N1259K;ENSP00000380741:N1258K;ENSP00000380735:N1255K;ENSP00000440515:N1255K;ENSP00000438164:N1665K;ENSP00000417093:N1258K;ENSP00000380731:N1258K	.	N	-	3	2	PTPRD	8331221	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.147000	0.58078	1.107000	0.41642	0.533000	0.62120	AAT	.	.	.	none		0.388	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
ZNF782	158431	hgsc.bcm.edu	37	9	99581195	99581195	+	Silent	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr9:99581195T>C	ENST00000481138.1	-	6	1771	c.1110A>G	c.(1108-1110)gaA>gaG	p.E370E	ZNF782_ENST00000466833.1_5'Flank|ZNF782_ENST00000535338.1_Silent_p.E238E	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	370					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTTCCCACATTCATTATACT	0.433																																					p.E370E		Atlas-SNP	.											.	ZNF782	64	.	0			c.A1110G						PASS	.						154.0	148.0	150.0					9																	99581195		2203	4300	6503	SO:0001819	synonymous_variant	158431	exon6			CCCACATTCATTA	AK131468	CCDS35075.1	9q22.33	2013-01-08			ENSG00000196597	ENSG00000196597		"""Zinc fingers, C2H2-type"", ""-"""	33110	protein-coding gene	gene with protein product							Standard	NM_001001662		Approved	FLJ16636	uc004awp.1	Q6ZMW2	OTTHUMG00000020310	ENST00000481138.1:c.1110A>G	chr9.hg19:g.99581195T>C		114.0	0.0	.		93.0	23.0	.	NM_001001662	B2RNR0	Silent	SNP	ENST00000481138.1	hg19	CCDS35075.1	.	.	.	.	.	.	.	.	.	.	T	5.011	0.187743	0.09547	.	.	ENSG00000196597	ENST00000289032	.	.	.	3.18	0.829	0.18847	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39354	-0.9618	4	.	.	.	.	6.3014	0.21115	0.0:0.2311:0.0:0.7689	.	.	.	.	V	359	.	.	M	-	1	0	ZNF782	98621016	0.000000	0.05858	0.022000	0.16811	0.206000	0.24218	-1.332000	0.02670	0.154000	0.19237	-0.250000	0.11733	ATG	.	.	.	none		0.433	ZNF782-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356810.1	NM_001001662	
FAM208B	54906	hgsc.bcm.edu	37	10	5788734	5788734	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr10:5788734G>T	ENST00000328090.5	+	15	3975	c.3350G>T	c.(3349-3351)gGa>gTa	p.G1117V	RP11-336A10.2_ENST00000411512.2_RNA	NM_017782.4	NP_060252	Q5VWN6	F208B_HUMAN	family with sequence similarity 208, member B	1117																	GTAGTTGCAGGACAGAAGGGC	0.498																																					p.G1117V		Atlas-SNP	.											.	.	.	.	0			c.G3350T						PASS	.						121.0	117.0	119.0					10																	5788734		1998	4180	6178	SO:0001583	missense	54906	exon15			TTGCAGGACAGAA	BX649177	CCDS41485.1	10p15.1	2011-09-14	2011-09-14	2011-09-14	ENSG00000108021	ENSG00000108021			23484	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 18"""	C10orf18		12477932	Standard	NM_017782		Approved	FLJ20360, bA318E3.2, KIAA2006	uc001iij.3	Q5VWN6	OTTHUMG00000017605	ENST00000328090.5:c.3350G>T	chr10.hg19:g.5788734G>T	ENSP00000328426:p.Gly1117Val	74.0	0.0	.		42.0	23.0	.	NM_017782	Q2YD91|Q5VWN5|Q6ZRQ8|Q8IVG4|Q9BUZ7|Q9H5J9|Q9H7A4|Q9H996|Q9NXA1	Missense_Mutation	SNP	ENST00000328090.5	hg19	CCDS41485.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905742	0.17760	.	.	ENSG00000108021	ENST00000328090	T	0.04551	3.6	5.68	-2.81	0.05805	.	1.074830	0.07161	N	0.850789	T	0.04407	0.0121	L	0.46157	1.445	0.09310	N	1	B	0.25667	0.131	B	0.21546	0.035	T	0.46582	-0.9181	10	0.59425	D	0.04	.	2.0015	0.03468	0.4653:0.132:0.2681:0.1346	.	1117	Q5VWN6	F208B_HUMAN	V	1117	ENSP00000328426:G1117V	ENSP00000328426:G1117V	G	+	2	0	C10orf18	5828740	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.207000	0.09384	-0.015000	0.14150	0.591000	0.81541	GGA	.	.	.	none		0.498	FAM208B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046571.2	NM_017782	
BAMBI	25805	hgsc.bcm.edu	37	10	28970452	28970452	+	Silent	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr10:28970452T>C	ENST00000375533.3	+	2	898	c.342T>C	c.(340-342)tcT>tcC	p.S114S		NM_012342.2	NP_036474.1	Q13145	BAMBI_HUMAN	BMP and activin membrane-bound inhibitor	114					cell migration (GO:0016477)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell shape (GO:0008360)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|type II transforming growth factor beta receptor binding (GO:0005114)			central_nervous_system(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	17						ATGTTCTCTCTCCTCCCAGGG	0.517																																					p.S114S		Atlas-SNP	.											.	BAMBI	31	.	0			c.T342C						PASS	.						85.0	93.0	90.0					10																	28970452		2203	4300	6503	SO:0001819	synonymous_variant	25805	exon2			TCTCTCTCCTCCC	U23070	CCDS7162.1	10p12.3-p11.2	2013-07-23	2013-07-23		ENSG00000095739	ENSG00000095739			30251	protein-coding gene	gene with protein product		604444	"""BMP and activin membrane-bound inhibitor homolog (Xenopus laevis)"""			8621228, 19758997	Standard	NM_012342		Approved	NMA	uc001iuj.1	Q13145	OTTHUMG00000017874	ENST00000375533.3:c.342T>C	chr10.hg19:g.28970452T>C		48.0	0.0	.		42.0	15.0	.	NM_012342		Silent	SNP	ENST00000375533.3	hg19	CCDS7162.1																																																																																			.	.	.	none		0.517	BAMBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047374.1	NM_012342	
CWF19L1	55280	hgsc.bcm.edu	37	10	101996700	101996700	+	Silent	SNP	A	A	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr10:101996700A>C	ENST00000354105.4	-	12	1367	c.1281T>G	c.(1279-1281)tcT>tcG	p.S427S	CWF19L1_ENST00000478047.1_5'UTR|SNORA12_ENST00000391162.1_RNA|CWF19L1_ENST00000370379.1_Intron|RP11-316M21.6_ENST00000444359.1_RNA	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	427							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CATCAGTAGTAGAGCAGCTGA	0.507																																					p.S427S		Atlas-SNP	.											.	CWF19L1	39	.	0			c.T1281G						PASS	.						164.0	158.0	160.0					10																	101996700		2203	4300	6503	SO:0001819	synonymous_variant	55280	exon12			AGTAGTAGAGCAG	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.1281T>G	chr10.hg19:g.101996700A>C		50.0	0.0	.		42.0	13.0	.	NM_018294	B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Silent	SNP	ENST00000354105.4	hg19	CCDS7489.1																																																																																			.	.	.	none		0.507	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294	
OR52R1	119695	hgsc.bcm.edu	37	11	4825301	4825301	+	Missense_Mutation	SNP	C	C	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr11:4825301C>A	ENST00000356069.2	-	1	309	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	MMP26_ENST00000477339.1_Intron|OR52R1_ENST00000380382.1_Missense_Mutation_p.V183L|MMP26_ENST00000380390.1_Intron	NM_001005177.3	NP_001005177.3	Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGAAGAACACCTGGATGAGG	0.522																																					p.V104L		Atlas-SNP	.											.	OR52R1	81	.	0			c.G310T						PASS	.						154.0	139.0	144.0					11																	4825301		2201	4298	6499	SO:0001583	missense	119695	exon1			AGAACACCTGGAT	BK004282	CCDS31360.1, CCDS31360.2	11p15.4	2012-08-09			ENSG00000176937	ENSG00000176937		"""GPCR / Class A : Olfactory receptors"""	15235	protein-coding gene	gene with protein product							Standard	NM_001005177		Approved		uc021qcs.1	Q8NGF1	OTTHUMG00000066510	ENST00000356069.2:c.310G>T	chr11.hg19:g.4825301C>A	ENSP00000348368:p.Val104Leu	66.0	0.0	.		69.0	29.0	.	NM_001005177	Q6IFI0	Missense_Mutation	SNP	ENST00000356069.2	hg19	CCDS31360.2	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102095	0.37048	.	.	ENSG00000176937	ENST00000356069;ENST00000380382	T;T	0.00381	7.63;7.63	5.42	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.340919	0.20955	N	0.082663	T	0.00144	0.0004	N	0.02391	-0.57	0.24499	N	0.994261	B	0.11235	0.004	B	0.12837	0.008	T	0.42032	-0.9475	10	0.72032	D	0.01	.	3.7756	0.08659	0.2976:0.4713:0.0:0.231	.	104	Q8NGF1	O52R1_HUMAN	L	104;183	ENSP00000348368:V104L;ENSP00000369742:V183L	ENSP00000348368:V104L	V	-	1	0	OR52R1	4781877	0.871000	0.30034	1.000000	0.80357	0.974000	0.67602	-0.059000	0.11731	0.848000	0.35191	0.650000	0.86243	GTG	.	.	.	none		0.522	OR52R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142183.1	NM_001005177	
CRACR2A	84766	hgsc.bcm.edu	37	12	3747327	3747327	+	Missense_Mutation	SNP	G	G	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr12:3747327G>A	ENST00000440314.2	-	14	2038	c.1565C>T	c.(1564-1566)cCc>cTc	p.P522L		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			CTGCCCTCGGGGGGATGTGGG	0.547																																					p.P522L		Atlas-SNP	.											.	EFCAB4B	100	.	0			c.C1565T						PASS	.						7.0	9.0	8.0					12																	3747327		690	1588	2278	SO:0001583	missense	84766	exon14			CCTCGGGGGGATG																												ENST00000440314.2:c.1565C>T	chr12.hg19:g.3747327G>A	ENSP00000409382:p.Pro522Leu	75.0	0.0	.		66.0	23.0	.	NM_001144958	B4E1X0|B9EK63	Missense_Mutation	SNP	ENST00000440314.2	hg19	CCDS44803.1	.	.	.	.	.	.	.	.	.	.	G	12.53	1.964657	0.34659	.	.	ENSG00000130038	ENST00000440314	T	0.62639	0.01	4.72	4.72	0.59763	.	.	.	.	.	T	0.56001	0.1956	.	.	.	0.80722	D	1	B	0.22346	0.068	B	0.19148	0.024	T	0.58301	-0.7660	8	0.87932	D	0	.	15.2134	0.73244	0.0:0.0:1.0:0.0	.	522	Q9BSW2-2	.	L	522	ENSP00000409382:P522L	ENSP00000409382:P522L	P	-	2	0	EFCAB4B	3617588	1.000000	0.71417	0.993000	0.49108	0.208000	0.24298	3.966000	0.56795	2.424000	0.82194	0.557000	0.71058	CCC	.	.	.	none		0.547	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398640.2		
KANSL2	54934	hgsc.bcm.edu	37	12	49062931	49062931	+	Missense_Mutation	SNP	C	C	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr12:49062931C>A	ENST00000420613.2	-	6	881	c.834G>T	c.(832-834)ttG>ttT	p.L278F	KANSL2_ENST00000553086.1_Missense_Mutation_p.L278F|SNORA2B_ENST00000384583.1_RNA|KANSL2_ENST00000357861.3_Missense_Mutation_p.L83F|KANSL2_ENST00000550347.1_Missense_Mutation_p.L461F	NM_017822.3	NP_060292.3	Q9H9L4	KANL2_HUMAN	KAT8 regulatory NSL complex subunit 2	278					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)											TCCGTTCCTTCAACTGCCTAT	0.428																																					p.L278F		Atlas-SNP	.											.	.	.	.	0			c.G834T						PASS	.						53.0	53.0	53.0					12																	49062931		1944	4082	6026	SO:0001583	missense	54934	exon6			TTCCTTCAACTGC	AK094528	CCDS44869.1	12q13.11	2011-10-31	2011-10-31	2011-10-31	ENSG00000139620	ENSG00000139620			26024	protein-coding gene	gene with protein product		615488	"""chromosome 12 open reading frame 41"""	C12orf41		12477932	Standard	NM_017822		Approved	FLJ20436, NSL2	uc001rrz.2	Q9H9L4	OTTHUMG00000170392	ENST00000420613.2:c.834G>T	chr12.hg19:g.49062931C>A	ENSP00000415436:p.Leu278Phe	64.0	0.0	.		66.0	23.0	.	NM_017822	Q8N3B5|Q96CV0|Q9NX51	Missense_Mutation	SNP	ENST00000420613.2	hg19	CCDS44869.1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.141053	0.37825	.	.	ENSG00000139620	ENST00000550347;ENST00000420613;ENST00000547087;ENST00000553086;ENST00000357861	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.95	1.65	0.23941	.	0.142489	0.47093	D	0.000254	T	0.32793	0.0841	L	0.55743	1.74	0.45837	D	0.998708	P;B;P	0.41102	0.738;0.101;0.587	B;B;B	0.37267	0.233;0.039;0.245	T	0.06716	-1.0811	10	0.26408	T	0.33	-8.2093	9.9462	0.41611	0.0:0.6755:0.0:0.3245	.	461;278;83	F8VX10;Q9H9L4;Q9H9L4-2	.;CL041_HUMAN;.	F	461;278;26;278;83	ENSP00000449747:L461F;ENSP00000415436:L278F;ENSP00000447608:L26F;ENSP00000448833:L278F;ENSP00000350527:L83F	ENSP00000350527:L83F	L	-	3	2	C12orf41	47349198	0.998000	0.40836	1.000000	0.80357	0.976000	0.68499	0.558000	0.23469	0.432000	0.26286	-0.136000	0.14681	TTG	.	.	.	none		0.428	KANSL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408841.1	NM_017822	
PRMT5	10419	hgsc.bcm.edu	37	14	23393691	23393691	+	Missense_Mutation	SNP	A	A	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr14:23393691A>T	ENST00000324366.8	-	10	1296	c.1073T>A	c.(1072-1074)gTc>gAc	p.V358D	PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.V252D|PRMT5_ENST00000553897.1_Missense_Mutation_p.V314D|PRMT5_ENST00000216350.8_Missense_Mutation_p.V297D|PRMT5_ENST00000397441.2_Missense_Mutation_p.V341D|PRMT5_ENST00000553641.1_5'Flank|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V187D	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	358	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CACTCACTGGACATTGGTATC	0.473																																					p.V358D		Atlas-SNP	.											.	PRMT5	101	.	0			c.T1073A						PASS	.						175.0	169.0	171.0					14																	23393691		2203	4300	6503	SO:0001583	missense	10419	exon10			CACTGGACATTGG	AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.1073T>A	chr14.hg19:g.23393691A>T	ENSP00000319169:p.Val358Asp	273.0	0.0	.		181.0	39.0	.	NM_006109	A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	ENST00000324366.8	hg19	CCDS9579.1	.	.	.	.	.	.	.	.	.	.	A	16.44	3.125303	0.56721	.	.	ENSG00000100462	ENST00000324366;ENST00000397441;ENST00000397440;ENST00000216350;ENST00000538452;ENST00000553897;ENST00000553502;ENST00000555530	T;T;T;T;T;T	0.17691	2.26;2.26;2.26;2.26;2.26;2.26	5.36	5.36	0.76844	.	0.295026	0.37304	N	0.002160	T	0.16642	0.0400	L	0.45137	1.4	0.80722	D	1	B;B;B;B;B	0.30727	0.265;0.292;0.131;0.229;0.091	B;B;B;B;B	0.34242	0.142;0.178;0.091;0.079;0.094	T	0.05115	-1.0905	10	0.12103	T	0.63	.	14.4831	0.67597	1.0:0.0:0.0:0.0	.	314;297;187;358;341	G3V5W5;B4DX49;A8MTP3;O14744;A8MZ91	.;.;.;ANM5_HUMAN;.	D	358;341;187;297;252;314;101;253	ENSP00000319169:V358D;ENSP00000380583:V341D;ENSP00000380582:V187D;ENSP00000216350:V297D;ENSP00000444915:V252D;ENSP00000452555:V314D	ENSP00000216350:V297D	V	-	2	0	PRMT5	22463531	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.587000	0.82613	2.254000	0.74563	0.459000	0.35465	GTC	.	.	.	none		0.473	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071674.3		
ZBTB42	100128927	hgsc.bcm.edu	37	14	105267880	105267880	+	Missense_Mutation	SNP	G	G	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr14:105267880G>C	ENST00000342537.7	+	1	631	c.346G>C	c.(346-348)Ggc>Cgc	p.G116R	ZBTB42_ENST00000555360.1_Missense_Mutation_p.G116R	NM_001137601.1	NP_001131073.1	B2RXF5	ZBT42_HUMAN	zinc finger and BTB domain containing 42	116					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGTCTGCAAGGGCAGGCTCCA	0.662																																					p.G116R		Atlas-SNP	.											.	ZBTB42	10	.	0			c.G346C						PASS	.						37.0	40.0	39.0					14																	105267880		692	1591	2283	SO:0001583	missense	100128927	exon2			TGCAAGGGCAGGC	AX721091	CCDS45174.1	14q32.33	2013-01-09				ENSG00000179627		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	32550	protein-coding gene	gene with protein product		613915					Standard	NM_001137601		Approved	ZNF925	uc001ypp.3	B2RXF5		ENST00000342537.7:c.346G>C	chr14.hg19:g.105267880G>C	ENSP00000409107:p.Gly116Arg	135.0	0.0	.		71.0	22.0	.	NM_001137601	B7ZW21	Missense_Mutation	SNP	ENST00000342537.7	hg19	CCDS45174.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067674	0.36470	.	.	ENSG00000179627	ENST00000555360;ENST00000342537	T;T	0.69926	-0.44;-0.44	3.09	2.19	0.27852	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	.	.	.	.	T	0.49406	0.1555	N	0.01289	-0.905	0.46028	D	0.998822	D	0.60575	0.988	P	0.61940	0.896	T	0.45264	-0.9273	9	0.20046	T	0.44	.	9.8318	0.40946	0.1043:0.0:0.8957:0.0	.	116	B2RXF5	ZBT42_HUMAN	R	116	ENSP00000450673:G116R;ENSP00000409107:G116R	ENSP00000409107:G116R	G	+	1	0	ZBTB42	104338925	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.898000	0.48672	0.501000	0.28013	0.462000	0.41574	GGC	.	.	.	none		0.662	ZBTB42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410372.1		
CRTC3	64784	hgsc.bcm.edu	37	15	91172533	91172533	+	Silent	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr15:91172533C>T	ENST00000268184.6	+	11	1039	c.1035C>T	c.(1033-1035)tcC>tcT	p.S345S	RP11-387D10.2_ENST00000559531.1_RNA|CRTC3_ENST00000420329.2_Silent_p.S345S			Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	345					energy homeostasis (GO:0097009)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of lipid catabolic process (GO:0050995)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cAMP response element binding protein binding (GO:0008140)		CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TTTCCTCTTCCTTAAATAACC	0.473			T	MAML2	salivary gland mucoepidermoid																																p.S345S		Atlas-SNP	.		Dom	yes		15	15q26.1	64784	CREB regulated transcription coactivator 3		E	.	CRTC3	47	.	0			c.C1035T						PASS	.						180.0	176.0	178.0					15																	91172533		2198	4298	6496	SO:0001819	synonymous_variant	64784	exon11			CTCTTCCTTAAAT		CCDS32331.1, CCDS45348.1	15q26.1	2005-11-24				ENSG00000140577			26148	protein-coding gene	gene with protein product		608986				14536081, 14506290	Standard	NM_022769		Approved	FLJ21868	uc002bpp.4	Q6UUV7		ENST00000268184.6:c.1035C>T	chr15.hg19:g.91172533C>T		182.0	0.0	.		112.0	21.0	.	NM_022769	Q6DK61|Q6DK62|Q8NF38|Q9H6U2	Silent	SNP	ENST00000268184.6	hg19	CCDS32331.1																																																																																			.	.	.	none		0.473	CRTC3-001	KNOWN	NAGNAG_splice_site|non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417716.2	NM_022769	
PDXDC1	23042	hgsc.bcm.edu	37	16	15129917	15129917	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:15129917A>G	ENST00000396410.4	+	23	2249	c.2152A>G	c.(2152-2154)Agt>Ggt	p.S718G	PDXDC1_ENST00000535621.2_Intron|PDXDC1_ENST00000563679.1_Missense_Mutation_p.S736G|PDXDC1_ENST00000325823.7_Missense_Mutation_p.S703G|PDXDC1_ENST00000569715.1_Missense_Mutation_p.S691G|PDXDC1_ENST00000450288.2_Missense_Mutation_p.S690G|PDXDC1_ENST00000447912.2_Missense_Mutation_p.S627G	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	718					carboxylic acid metabolic process (GO:0019752)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGATGCTTTGAGTGAGACCAG	0.537																																					p.S718G		Atlas-SNP	.											.	PDXDC1	59	.	0			c.A2152G						PASS	.						145.0	139.0	141.0					16																	15129917		2197	4300	6497	SO:0001583	missense	23042	exon23			GCTTTGAGTGAGA	AK025504, BX647809	CCDS32393.1, CCDS66954.1, CCDS66957.1, CCDS73830.1, CCDS73831.1	16p13.11	2008-02-05							28995	protein-coding gene	gene with protein product		614244					Standard	XM_005255173		Approved	KIAA0251	uc002dda.4	Q6P996	OTTHUMG00000166304	ENST00000396410.4:c.2152A>G	chr16.hg19:g.15129917A>G	ENSP00000379691:p.Ser718Gly	53.0	0.0	.		47.0	6.0	.	NM_015027	B4DR55|B4DSL3|E7EMH5|E7EPL4|H3BNZ1|O00236|Q4F6X7|Q6PID7|Q86YF1|Q8N4Q9|Q8TBS5	Missense_Mutation	SNP	ENST00000396410.4	hg19	CCDS32393.1	.	.	.	.	.	.	.	.	.	.	A	17.18	3.324586	0.60634	.	.	ENSG00000179889	ENST00000325823;ENST00000447912;ENST00000396410;ENST00000450288	T;T;T;T	0.34859	1.35;1.91;1.34;1.38	5.91	4.82	0.62117	.	0.038008	0.85682	D	0.000000	T	0.27349	0.0671	L	0.29908	0.895	0.58432	D	0.999998	B;B;B;B	0.19073	0.025;0.033;0.025;0.012	B;B;B;B	0.20184	0.022;0.028;0.022;0.016	T	0.07770	-1.0755	10	0.54805	T	0.06	-17.3828	10.7095	0.45975	0.9265:0.0:0.0735:0.0	.	690;627;690;718	E7EPL4;E7EMH5;B4DR55;Q6P996	.;.;.;PDXD1_HUMAN	G	703;627;718;690	ENSP00000322807:S703G;ENSP00000400310:S627G;ENSP00000379691:S718G;ENSP00000391147:S690G	ENSP00000322807:S703G	S	+	1	0	PDXDC1	15037418	1.000000	0.71417	0.945000	0.38365	0.998000	0.95712	6.045000	0.71020	2.254000	0.74563	0.533000	0.62120	AGT	.	.	.	none		0.537	PDXDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389065.2	NM_015027	
DPEP3	64180	hgsc.bcm.edu	37	16	68012250	68012250	+	Missense_Mutation	SNP	G	G	C	rs553819810		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:68012250G>C	ENST00000268793.4	-	4	1054	c.681C>G	c.(679-681)gaC>gaG	p.D227E	DPEP3_ENST00000574342.1_5'Flank	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	202					male meiosis (GO:0007140)	anchored component of membrane (GO:0031225)	dipeptidase activity (GO:0016805)|dipeptidyl-peptidase activity (GO:0008239)|metal ion binding (GO:0046872)|metalloexopeptidase activity (GO:0008235)			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		AGAGGCTGCTGTCCAGTGAGT	0.552																																					p.D227E		Atlas-SNP	.											.	DPEP3	48	.	0			c.C681G						PASS	.						79.0	76.0	77.0					16																	68012250		2198	4300	6498	SO:0001583	missense	64180	exon4			GCTGCTGTCCAGT	AJ291679	CCDS10856.1	16q22.1	2011-07-22			ENSG00000141096	ENSG00000141096	3.4.13.19		23029	protein-coding gene	gene with protein product		609926					Standard	NM_022357		Approved		uc002evc.4	Q9H4B8	OTTHUMG00000137544	ENST00000268793.4:c.681C>G	chr16.hg19:g.68012250G>C	ENSP00000268793:p.Asp227Glu	84.0	0.0	.		84.0	23.0	.	NM_001129758	B3KQ48|Q6PEZ5|Q6UXE4	Missense_Mutation	SNP	ENST00000268793.4	hg19	CCDS10856.1	.	.	.	.	.	.	.	.	.	.	G	12.08	1.829864	0.32329	.	.	ENSG00000141096	ENST00000268793	T	0.19938	2.11	4.7	1.1	0.20463	.	0.050722	0.85682	D	0.000000	T	0.14917	0.0360	L	0.39397	1.21	0.42993	D	0.994498	B	0.33777	0.425	B	0.31101	0.124	T	0.07462	-1.0771	10	0.48119	T	0.1	.	9.1289	0.36833	0.3032:0.0:0.6968:0.0	.	202	Q9H4B8	DPEP3_HUMAN	E	227	ENSP00000268793:D227E	ENSP00000268793:D227E	D	-	3	2	DPEP3	66569751	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	5.324000	0.65863	0.420000	0.25954	0.561000	0.74099	GAC	.	.	.	none		0.552	DPEP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268875.3	NM_022357	
PRMT7	54496	hgsc.bcm.edu	37	16	68373404	68373404	+	Missense_Mutation	SNP	T	T	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:68373404T>G	ENST00000339507.5	+	8	1514	c.684T>G	c.(682-684)atT>atG	p.I228M	PRMT7_ENST00000348497.4_Missense_Mutation_p.I154M|PRMT7_ENST00000441236.1_Missense_Mutation_p.I178M|PRMT7_ENST00000449359.3_Missense_Mutation_p.I178M|PRMT7_ENST00000564441.1_3'UTR			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	228	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		TCTGTGACATTCAGCTGAACC	0.582																																					p.I228M		Atlas-SNP	.											.	PRMT7	51	.	0			c.T684G						PASS	.						98.0	76.0	83.0					16																	68373404		2198	4300	6498	SO:0001583	missense	54496	exon8			TGACATTCAGCTG	AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.684T>G	chr16.hg19:g.68373404T>G	ENSP00000343103:p.Ile228Met	52.0	0.0	.		57.0	21.0	.	NM_019023	B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	ENST00000339507.5	hg19	CCDS10866.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520487	0.64747	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000348497;ENST00000339507	T;T	0.78481	-1.18;0.84	5.51	1.98	0.26296	.	0.087357	0.85682	D	0.000000	T	0.77624	0.4158	L	0.41906	1.305	0.51767	D	0.999933	D;D;P;D	0.76494	0.998;0.996;0.901;0.999	D;D;B;D	0.76575	0.963;0.988;0.387;0.984	T	0.71902	-0.4452	10	0.38643	T	0.18	-9.242	3.2342	0.06758	0.2932:0.163:0.0:0.5438	.	178;154;228;228	Q9NVM4-3;Q9NVM4-2;Q9NVM4;Q9NVM4-4	.;.;ANM7_HUMAN;.	M	178;178;154;228	ENSP00000345775:I154M;ENSP00000343103:I228M	ENSP00000343103:I228M	I	+	3	3	PRMT7	66930905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.000000	0.29770	0.113000	0.18004	0.533000	0.62120	ATT	.	.	.	none		0.582	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268892.3	NM_019023	
CDH3	1001	hgsc.bcm.edu	37	16	68716217	68716217	+	Missense_Mutation	SNP	G	G	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:68716217G>T	ENST00000264012.4	+	9	1553	c.1009G>T	c.(1009-1011)Gtg>Ttg	p.V337L	CDH3_ENST00000581171.1_Missense_Mutation_p.V282L|CDH3_ENST00000429102.2_Missense_Mutation_p.V337L	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|hair cycle process (GO:0022405)|homophilic cell adhesion (GO:0007156)|keratinization (GO:0031424)|negative regulation of catagen (GO:0051796)|negative regulation of transforming growth factor beta2 production (GO:0032912)|positive regulation of gene expression (GO:0010628)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanosome transport (GO:1902910)|positive regulation of monophenol monooxygenase activity (GO:0032773)|regulation of hair cycle by canonical Wnt signaling pathway (GO:0060901)|response to drug (GO:0042493)|retina homeostasis (GO:0001895)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)|wound healing (GO:0042060)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		CGAGGCCCATGTGCCTGAGAA	0.577																																					p.V337L		Atlas-SNP	.											.	CDH3	68	.	2	Unknown(2)	breast(2)	c.G1009T						PASS	.						75.0	54.0	61.0					16																	68716217		2198	4300	6498	SO:0001583	missense	1001	exon9			GCCCATGTGCCTG	X63629	CCDS10868.1	16q22.1	2013-01-08	2001-12-04		ENSG00000062038	ENSG00000062038		"""Cadherins / Major cadherins"""	1762	protein-coding gene	gene with protein product		114021	"""cadherin 3, P-cadherin (placental)"""			1427864	Standard	NM_001793		Approved	CDHP, PCAD	uc002ewf.2	P22223	OTTHUMG00000137560	ENST00000264012.4:c.1009G>T	chr16.hg19:g.68716217G>T	ENSP00000264012:p.Val337Leu	73.0	0.0	.		65.0	13.0	.	NM_001793	B2R6F4|Q05DI6	Missense_Mutation	SNP	ENST00000264012.4	hg19	CCDS10868.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.509463	0.85282	.	.	ENSG00000062038	ENST00000429102;ENST00000264012;ENST00000542274	T;T	0.55234	0.53;0.53	5.56	5.56	0.83823	Cadherin (4);Cadherin-like (1);	0.000000	0.37483	N	0.002065	T	0.72463	0.3463	M	0.71581	2.175	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.75007	-0.3469	10	0.87932	D	0	.	17.0347	0.86471	0.0:0.0:1.0:0.0	.	337	P22223	CADH3_HUMAN	L	337;337;282	ENSP00000398485:V337L;ENSP00000264012:V337L	ENSP00000264012:V337L	V	+	1	0	CDH3	67273718	1.000000	0.71417	0.951000	0.38953	0.562000	0.35680	7.361000	0.79497	2.614000	0.88457	0.561000	0.74099	GTG	.	.	.	none		0.577	CDH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268896.2	NM_001793	
ZNRF1	84937	hgsc.bcm.edu	37	16	75127548	75127548	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:75127548C>G	ENST00000335325.4	+	2	1145	c.503C>G	c.(502-504)cCt>cGt	p.P168R	ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000566250.1_Missense_Mutation_p.P168R|ZNRF1_ENST00000320619.6_Missense_Mutation_p.P168R|ZNRF1_ENST00000567962.1_Missense_Mutation_p.P168R	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	168					proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|lysosome (GO:0005764)|membrane (GO:0016020)|synapse (GO:0045202)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)	1						TTGAGCAAACCTCGCCTCTCC	0.557																																					p.P168R		Atlas-SNP	.											.	ZNRF1	6	.	0			c.C503G						PASS	.						136.0	118.0	124.0					16																	75127548		2198	4300	6498	SO:0001583	missense	84937	exon2			GCAAACCTCGCCT	AF378524	CCDS10912.1	16q22.3	2013-01-09	2012-02-23		ENSG00000186187	ENSG00000186187		"""RING-type (C3HC4) zinc fingers"""	18452	protein-coding gene	gene with protein product		612060	"""zinc and ring finger 1"""				Standard	NM_032268		Approved	nin283, FLJ14846, DKFZp434E229	uc002fdl.1	Q8ND25	OTTHUMG00000137606	ENST00000335325.4:c.503C>G	chr16.hg19:g.75127548C>G	ENSP00000335091:p.Pro168Arg	157.0	0.0	.		109.0	39.0	.	NM_032268	D3DUJ9|Q9H083	Missense_Mutation	SNP	ENST00000335325.4	hg19	CCDS10912.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.834662	0.91036	.	.	ENSG00000186187	ENST00000320619;ENST00000335325	T	0.52057	0.68	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.70395	0.3219	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.998	D;D;D	0.91635	0.994;0.999;0.987	T	0.71573	-0.4552	10	0.72032	D	0.01	-0.0544	19.9542	0.97213	0.0:1.0:0.0:0.0	.	168;168;168	B4DG67;Q8ND25-2;Q8ND25	.;.;ZNRF1_HUMAN	R	168	ENSP00000335091:P168R	ENSP00000323362:P168R	P	+	2	0	ZNRF1	73685049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.414000	0.80117	2.728000	0.93425	0.650000	0.86243	CCT	.	.	.	none		0.557	ZNRF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269020.2		
ADPRM	56985	hgsc.bcm.edu	37	17	10608320	10608320	+	Missense_Mutation	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:10608320T>A	ENST00000379774.4	+	2	168	c.77T>A	c.(76-78)gTt>gAt	p.V26D	ADPRM_ENST00000609540.1_Missense_Mutation_p.V26D	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	26							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ATCGCAGATGTTCAATTTGCA	0.438																																					p.V26D		Atlas-SNP	.											.	.	.	.	0			c.T77A						PASS	.						148.0	144.0	145.0					17																	10608320		2203	4300	6503	SO:0001583	missense	56985	exon2			CAGATGTTCAATT	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.77T>A	chr17.hg19:g.10608320T>A	ENSP00000369099:p.Val26Asp	80.0	0.0	.		84.0	21.0	.	NM_020233	A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Missense_Mutation	SNP	ENST00000379774.4	hg19	CCDS11159.2	.	.	.	.	.	.	.	.	.	.	T	20.9	4.059631	0.76074	.	.	ENSG00000170222	ENST00000379774	D	0.94723	-3.5	5.38	5.38	0.77491	.	0.160556	0.53938	D	0.000044	D	0.96935	0.8999	M	0.78049	2.395	0.80722	D	1	D	0.76494	0.999	D	0.72338	0.977	D	0.97458	1.0032	10	0.72032	D	0.01	-22.0576	15.22	0.73303	0.0:0.0:0.0:1.0	.	26	Q3LIE5	ADPRM_HUMAN	D	26	ENSP00000369099:V26D	ENSP00000369099:V26D	V	+	2	0	C17orf48	10549045	1.000000	0.71417	1.000000	0.80357	0.696000	0.40369	7.096000	0.76960	2.248000	0.74166	0.460000	0.39030	GTT	.	.	.	none		0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233	
SPAG5	10615	hgsc.bcm.edu	37	17	26906801	26906801	+	Missense_Mutation	SNP	C	C	G	rs546549488		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:26906801C>G	ENST00000321765.5	-	17	3184	c.2852G>C	c.(2851-2853)cGa>cCa	p.R951P	ALDOC_ENST00000226253.4_5'Flank|ALDOC_ENST00000395319.3_5'Flank|ALDOC_ENST00000395321.2_5'Flank	NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	951					chromosome segregation (GO:0007059)|mitotic sister chromatid segregation (GO:0000070)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|microtubule plus-end (GO:0035371)|mitotic spindle (GO:0072686)		p.R951L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGATGCTACTCGGGTGAAAGC	0.502																																					p.R951P		Atlas-SNP	.											SPAG5,NS,carcinoma,0,1	SPAG5	92	.	1	Substitution - Missense(1)	lung(1)	c.G2852C						PASS	.						148.0	152.0	151.0					17																	26906801		2203	4300	6503	SO:0001583	missense	10615	exon17			GCTACTCGGGTGA	AF063308	CCDS32594.1	17q11.2	2008-07-18			ENSG00000076382	ENSG00000076382			13452	protein-coding gene	gene with protein product	"""mitotic spindle coiled-coil related protein"", ""astrin"", ""mitotic spindle associated protein p126"""	615562				11549262	Standard	NM_006461		Approved	DEEPEST, MAP126, hMAP126	uc002hbq.3	Q96R06	OTTHUMG00000166586	ENST00000321765.5:c.2852G>C	chr17.hg19:g.26906801C>G	ENSP00000323300:p.Arg951Pro	145.0	0.0	.		103.0	29.0	.	NM_006461	O95213|Q9BWE8|Q9NT17|Q9UFE6	Missense_Mutation	SNP	ENST00000321765.5	hg19	CCDS32594.1	.	.	.	.	.	.	.	.	.	.	c	17.07	3.293952	0.60086	.	.	ENSG00000076382	ENST00000321765	T	0.32753	1.44	5.4	4.41	0.53225	.	0.148155	0.30365	N	0.009799	T	0.40956	0.1138	L	0.34521	1.04	0.34124	D	0.664436	D	0.89917	1.0	D	0.75484	0.986	T	0.50224	-0.8853	10	0.62326	D	0.03	-7.7226	10.1832	0.42982	0.0:0.9085:0.0:0.0915	.	951	Q96R06	SPAG5_HUMAN	P	951	ENSP00000323300:R951P	ENSP00000323300:R951P	R	-	2	0	SPAG5	23930928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.368000	0.34216	2.817000	0.96982	0.645000	0.84053	CGA	.	.	.	none		0.502	SPAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390564.2	NM_006461	
ZNF830	91603	hgsc.bcm.edu	37	17	33289174	33289175	+	Missense_Mutation	DNP	TC	TC	AT			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T|C	T|C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:33289174_33289175TC>AT	ENST00000361952.3	+	1	626_627	c.589_590TC>AT	c.(589-591)TCa>ATa	p.S197I	CCT6B_ENST00000436961.3_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000314144.5_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	197					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				AGTTTCCTCTTCACGGGAGGTA	0.52																																					p.S197T|p.S197L		Atlas-SNP	.											.	ZNF830	26	.	0			c.T589A|c.C590T						PASS	.																																			SO:0001583	missense	91603	exon1			TCCTCTTCACGGG|CCTCTTCACGGGA	AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	Exception_encountered	chr17.hg19:g.33289174_33289175delinsAT	ENSP00000354518:p.Ser197Ile	65.0|66.0	0.0	.		65.0	10.0	.	NM_052857	Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	ENST00000361952.3	hg19	CCDS32618.1																																																																																			.	.	.	none		0.520	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448018.1	NM_052857	
TNRC6C	57690	hgsc.bcm.edu	37	17	76045429	76045429	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr17:76045429A>G	ENST00000588061.1	+	5	1013	c.286A>G	c.(286-288)Att>Gtt	p.I96V	TNRC6C_ENST00000544502.1_Missense_Mutation_p.I96V|TNRC6C_ENST00000588847.1_Missense_Mutation_p.I96V|TNRC6C_ENST00000541771.1_Missense_Mutation_p.I96V|TNRC6C_ENST00000335749.4_Missense_Mutation_p.I96V|TNRC6C_ENST00000301624.4_Missense_Mutation_p.I96V			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	96	Sufficient for interaction with argonaute family proteins.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CAATGCTGGCATTAATCTTAA	0.507																																					p.I96V		Atlas-SNP	.											.	TNRC6C	173	.	0			c.A286G						PASS	.						51.0	55.0	53.0					17																	76045429		2032	4182	6214	SO:0001583	missense	57690	exon4			GCTGGCATTAATC	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.286A>G	chr17.hg19:g.76045429A>G	ENSP00000468647:p.Ile96Val	156.0	0.0	.		120.0	10.0	.	NM_018996	G3XAB8|Q86UE5|Q8N3D8|Q96MU9	Missense_Mutation	SNP	ENST00000588061.1	hg19	CCDS45798.1	.	.	.	.	.	.	.	.	.	.	A	4.973	0.180743	0.09443	.	.	ENSG00000078687	ENST00000455761;ENST00000395801;ENST00000335749;ENST00000301624;ENST00000541771;ENST00000544502	T;T;T;T	0.14144	2.53;2.54;2.54;2.53	5.15	5.15	0.70609	.	0.333646	0.33217	N	0.005144	T	0.13114	0.0318	L	0.42245	1.32	0.42692	D	0.993588	B;B;B	0.29988	0.225;0.264;0.144	B;B;B	0.31101	0.078;0.124;0.035	T	0.08493	-1.0719	10	0.12430	T	0.62	-4.1759	15.1447	0.72641	1.0:0.0:0.0:0.0	.	96;96;96	G3XAB8;Q9HCJ0-2;Q9HCJ0	.;.;TNR6C_HUMAN	V	96	ENSP00000336783:I96V;ENSP00000301624:I96V;ENSP00000440310:I96V;ENSP00000442421:I96V	ENSP00000301624:I96V	I	+	1	0	TNRC6C	73557024	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.359000	0.59449	2.159000	0.67721	0.533000	0.62120	ATT	.	.	.	none		0.507	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	NM_018996	
NPC1	4864	hgsc.bcm.edu	37	18	21116701	21116701	+	Missense_Mutation	SNP	T	T	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr18:21116701T>G	ENST00000269228.5	-	21	3735	c.3181A>C	c.(3181-3183)Ata>Cta	p.I1061L	NPC1_ENST00000540608.1_5'Flank|NPC1_ENST00000412552.2_Missense_Mutation_p.I743L	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1061			I -> T (in NPC1; late infantile form). {ECO:0000269|PubMed:10521290, ECO:0000269|PubMed:10521297, ECO:0000269|PubMed:11182931, ECO:0000269|PubMed:11333381, ECO:0000269|PubMed:11349231, ECO:0000269|PubMed:11479732, ECO:0000269|PubMed:11754101, ECO:0000269|PubMed:12401890, ECO:0000269|PubMed:16098014, ECO:0000269|PubMed:16126423}.		adult walking behavior (GO:0007628)|autophagy (GO:0006914)|bile acid metabolic process (GO:0008206)|cellular response to low-density lipoprotein particle stimulus (GO:0071404)|cellular response to steroid hormone stimulus (GO:0071383)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|establishment of protein localization to membrane (GO:0090150)|lysosomal transport (GO:0007041)|membrane raft organization (GO:0031579)|negative regulation of cell death (GO:0060548)|negative regulation of macroautophagy (GO:0016242)|protein glycosylation (GO:0006486)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	cholesterol binding (GO:0015485)|hedgehog receptor activity (GO:0008158)|receptor activity (GO:0004872)|sterol transporter activity (GO:0015248)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TTACTGGCTATAAGTCGGGCT	0.522																																					p.I1061L		Atlas-SNP	.											.	NPC1	114	.	0			c.A3181C						PASS	.						109.0	94.0	99.0					18																	21116701		2203	4300	6503	SO:0001583	missense	4864	exon21			TGGCTATAAGTCG	AF002020	CCDS11878.1	18q11.2	2014-06-17			ENSG00000141458	ENSG00000141458			7897	protein-coding gene	gene with protein product		607623				8446622	Standard	NM_000271		Approved		uc002kum.4	O15118	OTTHUMG00000131873	ENST00000269228.5:c.3181A>C	chr18.hg19:g.21116701T>G	ENSP00000269228:p.Ile1061Leu	124.0	0.0	.		80.0	17.0	.	NM_000271	B4DET3|Q9P130	Missense_Mutation	SNP	ENST00000269228.5	hg19	CCDS11878.1	.	.	.	.	.	.	.	.	.	.	T	13.92	2.380899	0.42207	.	.	ENSG00000141458	ENST00000269228;ENST00000412552	D;D	0.88354	-2.37;-2.37	6.04	-6.49	0.01890	.	0.632759	0.17408	N	0.175275	T	0.78291	0.4260	L	0.31065	0.9	0.24200	N	0.995511	B;B	0.10296	0.001;0.003	B;B	0.17722	0.019;0.012	T	0.58160	-0.7685	10	0.31617	T	0.26	-6.4466	11.8648	0.52486	0.0:0.5076:0.0856:0.4068	.	1072;1061	Q59GR1;O15118	.;NPC1_HUMAN	L	1061;743	ENSP00000269228:I1061L;ENSP00000408606:I743L	ENSP00000269228:I1061L	I	-	1	0	NPC1	19370699	0.002000	0.14202	0.000000	0.03702	0.637000	0.38172	-0.050000	0.11904	-1.525000	0.01762	-0.375000	0.07067	ATA	.	.	.	none		0.522	NPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254823.2	NM_000271	
ATP5A1	498	hgsc.bcm.edu	37	18	43666115	43666115	+	Missense_Mutation	SNP	C	C	T			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr18:43666115C>T	ENST00000398752.6	-	10	1514	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	ATP5A1_ENST00000590665.1_Missense_Mutation_p.V443M|ATP5A1_ENST00000593152.2_Missense_Mutation_p.V415M|ATP5A1_ENST00000282050.2_Missense_Mutation_p.V465M	NM_001001935.2|NM_004046.5	NP_001001935.1|NP_004037.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	465					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|embryo development (GO:0009790)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of endothelial cell proliferation (GO:0001937)|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)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting ATP synthase complex, catalytic core F(1) (GO:0045261)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|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)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GTTAGACGCACGCCACGACTC	0.478																																					p.V465M		Atlas-SNP	.											.	ATP5A1	52	.	0			c.G1393A						PASS	.						87.0	76.0	80.0					18																	43666115		2203	4300	6503	SO:0001583	missense	498	exon10			GACGCACGCCACG	D14710	CCDS11927.1, CCDS58620.1, CCDS59315.1	18q21	2012-10-12	2006-01-13		ENSG00000152234	ENSG00000152234	3.6.1.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	823	protein-coding gene	gene with protein product		164360	"""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 2, non-cardiac muscle-like 2"", ""ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit, isoform 1, cardiac muscle"""	ATP5AL2, ATPM		1830491	Standard	NM_001257334		Approved	ATP5A, hATP1, OMR, ORM	uc002lbr.2	P25705	OTTHUMG00000132637	ENST00000398752.6:c.1393G>A	chr18.hg19:g.43666115C>T	ENSP00000381736:p.Val465Met	95.0	0.0	.		87.0	11.0	.	NM_004046	A8K092|B4DY56|K7ENP3|Q53XX6|Q8IXV2|Q96FB4|Q96HW2|Q96IR6|Q9BTV8	Missense_Mutation	SNP	ENST00000398752.6	hg19	CCDS11927.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018806	0.75275	.	.	ENSG00000152234	ENST00000282050;ENST00000398752;ENST00000542290	T;T	0.76448	-1.02;-1.02	4.93	4.93	0.64822	ATPase, F1/V1/A1 complex, alpha/beta subunit, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	L	0.43757	1.38	0.80722	D	1	P	0.42757	0.789	B	0.37091	0.241	T	0.77629	-0.2516	10	0.72032	D	0.01	-13.5043	18.2285	0.89926	0.0:1.0:0.0:0.0	.	465	P25705	ATPA_HUMAN	M	465;465;415	ENSP00000282050:V465M;ENSP00000381736:V465M	ENSP00000282050:V465M	V	-	1	0	ATP5A1	41920113	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	7.693000	0.84214	2.304000	0.77564	0.650000	0.86243	GTG	.	.	.	none		0.478	ATP5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255884.1	NM_004046	
MUC16	94025	hgsc.bcm.edu	37	19	9086492	9086492	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:9086492T>C	ENST00000397910.4	-	1	5526	c.5323A>G	c.(5323-5325)Aca>Gca	p.T1775A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1775	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTCATAACTGTGGTGACCTCC	0.488																																					p.T1775A		Atlas-SNP	.											.	MUC16	4315	.	0			c.A5323G						PASS	.						124.0	116.0	119.0					19																	9086492		1965	4142	6107	SO:0001583	missense	94025	exon1			TAACTGTGGTGAC	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.5323A>G	chr19.hg19:g.9086492T>C	ENSP00000381008:p.Thr1775Ala	82.0	0.0	.		67.0	12.0	.	NM_024690	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	hg19	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	2.556	-0.303013	0.05495	.	.	ENSG00000181143	ENST00000397910	T	0.02301	4.35	1.32	-2.02	0.07388	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	.	.	.	B	0.27594	0.182	B	0.23852	0.049	T	0.45041	-0.9288	8	0.87932	D	0	.	4.3299	0.11059	0.4077:0.0:0.0:0.5923	.	1775	B5ME49	.	A	1775	ENSP00000381008:T1775A	ENSP00000381008:T1775A	T	-	1	0	MUC16	8947492	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-0.813000	0.04491	-0.764000	0.04651	0.254000	0.18369	ACA	.	.	.	none		0.488	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
KIAA1683	80726	hgsc.bcm.edu	37	19	18377324	18377324	+	Silent	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:18377324T>A	ENST00000600328.3	-	3	1219	c.1026A>T	c.(1024-1026)acA>acT	p.T342T	KIAA1683_ENST00000600359.3_Silent_p.T296T|KIAA1683_ENST00000392413.4_Silent_p.T342T			Q9H0B3	K1683_HUMAN	KIAA1683	342	Thr-rich.					mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CCACTGGATATGTCTGGAGTA	0.552																																					p.T342T		Atlas-SNP	.											.	KIAA1683	190	.	0			c.A1026T						PASS	.						68.0	63.0	65.0					19																	18377324		2203	4300	6503	SO:0001819	synonymous_variant	80726	exon3			TGGATATGTCTGG	AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.1026A>T	chr19.hg19:g.18377324T>A		50.0	0.0	.		37.0	9.0	.	NM_001145304	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	ENST00000600328.3	hg19	CCDS32958.1																																																																																			.	.	.	none		0.552	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466312.3		
RASGRP4	115727	hgsc.bcm.edu	37	19	38910519	38910519	+	Missense_Mutation	SNP	C	C	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:38910519C>G	ENST00000587738.1	-	6	714	c.644G>C	c.(643-645)cGg>cCg	p.R215P	RASGRP4_ENST00000426920.2_Missense_Mutation_p.R215P|RASGRP4_ENST00000293062.9_Missense_Mutation_p.R215P|RASGRP4_ENST00000586305.1_Missense_Mutation_p.R201P|RASGRP4_ENST00000454404.2_Missense_Mutation_p.R215P|RASGRP4_ENST00000433821.2_Missense_Mutation_p.R215P|RASGRP4_ENST00000587753.1_Missense_Mutation_p.R215P			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	215	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTGGAAGGACCGGAACTCCAG	0.622																																					p.R215P		Atlas-SNP	.											.	RASGRP4	54	.	0			c.G644C						PASS	.						28.0	29.0	29.0					19																	38910519		1960	4144	6104	SO:0001583	missense	115727	exon6			AAGGACCGGAACT	AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.644G>C	chr19.hg19:g.38910519C>G	ENSP00000465772:p.Arg215Pro	117.0	0.0	.		92.0	16.0	.	NM_001146206	A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	ENST00000587738.1	hg19	CCDS46068.1	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809856	0.50421	.	.	ENSG00000171777	ENST00000433821;ENST00000293062;ENST00000426920;ENST00000405332;ENST00000454404	T;T;T;T	0.30448	1.53;1.56;1.56;1.56	4.78	3.75	0.43078	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.057267	0.64402	D	0.000002	T	0.37073	0.0990	L	0.27053	0.805	0.46521	D	0.999082	D;D;D;D;D;D;D	0.89917	0.997;0.99;0.994;0.999;0.987;0.999;1.0	P;P;D;D;D;D;D	0.76575	0.805;0.512;0.988;0.914;0.988;0.971;0.977	T	0.20174	-1.0283	10	0.72032	D	0.01	-28.4274	7.0414	0.25023	0.0:0.8014:0.0:0.1986	.	215;215;215;215;215;201;215	C0LTP5;C0LTP7;C0LTP2;C0LTP4;C0LTP3;Q8TDF6-2;Q8TDF6	.;.;.;.;.;.;GRP4_HUMAN	P	215	ENSP00000411878:R215P;ENSP00000293062:R215P;ENSP00000445966:R215P;ENSP00000416463:R215P	ENSP00000293062:R215P	R	-	2	0	RASGRP4	43602359	0.997000	0.39634	0.997000	0.53966	0.984000	0.73092	2.924000	0.48876	1.242000	0.43836	0.561000	0.74099	CGG	.	.	.	none		0.622	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460540.1	NM_170604	
MEGF8	1954	hgsc.bcm.edu	37	19	42879872	42879872	+	Missense_Mutation	SNP	G	G	A	rs376078071		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	G	G	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr19:42879872G>A	ENST00000251268.6	+	42	7483	c.7483G>A	c.(7483-7485)Gtg>Atg	p.V2495M	MEGF8_ENST00000378073.4_Missense_Mutation_p.V89M|MEGF8_ENST00000334370.4_Missense_Mutation_p.V2428M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2495					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GACGCTGGACGTGACCTTCGG	0.627																																					p.V2495M		Atlas-SNP	.											.	MEGF8	358	.	0			c.G7483A						PASS	.	G	MET/VAL	0,4406		0,0,2203	51.0	31.0	37.0		7282	4.9	1.0	19		37	1,8597	1.2+/-3.3	0,1,4298	no	missense	MEGF8	NM_001410.2	21	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	2428/2779	42879872	1,13003	2203	4299	6502	SO:0001583	missense	1954	exon42			CTGGACGTGACCT	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.7483G>A	chr19.hg19:g.42879872G>A	ENSP00000251268:p.Val2495Met	145.0	0.0	.		86.0	10.0	.	NM_001271938	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	hg19		.	.	.	.	.	.	.	.	.	.	g	24.6	4.550995	0.86127	0.0	1.16E-4	ENSG00000105429	ENST00000334370;ENST00000251268;ENST00000378073	T;T	0.38240	1.15;1.15	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000005	T	0.54743	0.1877	L	0.46819	1.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	T	0.57648	-0.7775	10	0.87932	D	0	-18.7745	17.2736	0.87109	0.0:0.0:1.0:0.0	.	89;2495;2428	F5GZG7;Q7Z7M0;Q7Z7M0-2	.;MEGF8_HUMAN;.	M	2428;2495;89	ENSP00000334219:V2428M;ENSP00000251268:V2495M	ENSP00000251268:V2495M	V	+	1	0	MEGF8	47571712	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	9.181000	0.94874	2.451000	0.82905	0.651000	0.88453	GTG	.	.	.	weak		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410	
C20orf85	128602	hgsc.bcm.edu	37	20	56730567	56730567	+	Missense_Mutation	SNP	T	T	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr20:56730567T>A	ENST00000371168.3	+	3	255	c.194T>A	c.(193-195)aTc>aAc	p.I65N		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	65										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			AAGCCCAAAATCGAGCTTCCT	0.453																																					p.I65N		Atlas-SNP	.											.	C20orf85	35	.	0			c.T194A						PASS	.						88.0	88.0	88.0					20																	56730567		2203	4300	6503	SO:0001583	missense	128602	exon3			CCAAAATCGAGCT	AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.194T>A	chr20.hg19:g.56730567T>A	ENSP00000360210:p.Ile65Asn	129.0	0.0	.		96.0	9.0	.	NM_178456		Missense_Mutation	SNP	ENST00000371168.3	hg19	CCDS13465.1	.	.	.	.	.	.	.	.	.	.	T	11.94	1.788735	0.31685	.	.	ENSG00000124237	ENST00000371168	T	0.24908	1.83	4.68	2.25	0.28309	.	1.023280	0.07799	N	0.956184	T	0.31857	0.0810	M	0.65975	2.015	0.09310	N	1	P	0.47191	0.891	P	0.45138	0.471	T	0.20438	-1.0275	10	0.87932	D	0	-8.7798	6.1898	0.20518	0.0:0.086:0.1606:0.7534	.	65	Q9H1P6	CT085_HUMAN	N	65	ENSP00000360210:I65N	ENSP00000360210:I65N	I	+	2	0	C20orf85	56163973	0.028000	0.19301	0.007000	0.13788	0.333000	0.28666	2.203000	0.42752	0.140000	0.18849	0.383000	0.25322	ATC	.	.	.	none		0.453	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456	
BCR	613	hgsc.bcm.edu	37	22	23653908	23653908	+	Silent	SNP	C	C	T	rs138762891		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	C	C	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr22:23653908C>T	ENST00000305877.8	+	19	3958	c.3207C>T	c.(3205-3207)taC>taT	p.Y1069Y	BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Silent_p.Y1025Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1069	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	AGGTGCCCTACATCGTGCGCC	0.612			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								.|||	1	0.000199681	0.0008	0.0	5008	,	,		24815	0.0		0.0	False		,,,				2504	0.0				p.Y1069Y		Atlas-SNP	.		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	.	BCR	74	.	0			c.C3207T						PASS	.	C	,	1,4365		0,1,2182	23.0	16.0	18.0		3207,3075	1.2	1.0	22	dbSNP_134	18	0,8514		0,0,4257	no	coding-synonymous,coding-synonymous	BCR	NM_004327.3,NM_021574.2	,	0,1,6439	TT,TC,CC		0.0,0.0229,0.0078	,	1069/1272,1025/1228	23653908	1,12879	2183	4257	6440	SO:0001819	synonymous_variant	613	exon19			GCCCTACATCGTG		CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3207C>T	chr22.hg19:g.23653908C>T		84.0	0.0	.		62.0	10.0	.	NM_004327	P78501|Q12842|Q4LE80|Q6NZI3	Silent	SNP	ENST00000305877.8	hg19	CCDS13806.1																																																																																			.	C|1.000;T|0.000	0.000	weak		0.612	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075819.1	NM_004327	
MORC4	79710	hgsc.bcm.edu	37	X	106236528	106236528	+	Missense_Mutation	SNP	A	A	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chrX:106236528A>C	ENST00000355610.4	-	3	514	c.240T>G	c.(238-240)aaT>aaG	p.N80K	MORC4_ENST00000255495.7_Missense_Mutation_p.N80K|MORC4_ENST00000535534.1_5'UTR	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	80						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AACAAGATTTATTCTTGACCT	0.398																																					p.N80K		Atlas-SNP	.											.	MORC4	155	.	0			c.T240G						PASS	.						167.0	151.0	156.0					X																	106236528		1899	4108	6007	SO:0001583	missense	79710	exon3			AGATTTATTCTTG	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.240T>G	chrX.hg19:g.106236528A>C	ENSP00000347821:p.Asn80Lys	192.0	0.0	.		168.0	66.0	.	NM_001085354	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	hg19	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	A	10.38	1.333030	0.24167	.	.	ENSG00000133131	ENST00000355610;ENST00000255495	T;T	0.74106	-0.81;-0.81	5.44	3.01	0.34805	ATPase-like, ATP-binding domain (4);	0.479943	0.23594	N	0.046517	T	0.55016	0.1894	N	0.21324	0.655	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.10450	0.005;0.004	T	0.39702	-0.9601	10	0.35671	T	0.21	-0.6851	4.0793	0.09919	0.6372:0.1767:0.1861:0.0	.	80;80	A1YR23;Q8TE76	.;MORC4_HUMAN	K	80	ENSP00000347821:N80K;ENSP00000255495:N80K	ENSP00000255495:N80K	N	-	3	2	MORC4	106123184	0.016000	0.18221	0.980000	0.43619	0.985000	0.73830	0.108000	0.15396	0.287000	0.22375	0.481000	0.45027	AAT	.	.	.	none		0.398	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
MT-CO3	4514	hgsc.bcm.edu	37	M	9667	9667	+	Missense_Mutation	SNP	A	A	G			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chrM:9667A>G	ENST00000362079.2	+	1	461	c.461A>G	c.(460-462)aAc>aGc	p.N154S	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank			P00414	COX3_HUMAN	mitochondrially encoded cytochrome c oxidase III	154					aerobic electron transport chain (GO:0019646)|cellular metabolic process (GO:0044237)|respiratory chain complex IV assembly (GO:0008535)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)			breast(1)|endometrium(10)|kidney(14)|lung(1)|urinary_tract(1)	27						TCTAATAGAAAACAACCGAAA	0.433																																					p.N154S		Atlas-SNP	.											.	.	.	.	0			c.A461G						PASS	.																																			SO:0001583	missense	5742	exon1			TAGAAAACAACCG			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198938	ENSG00000198938		"""Mitochondrial respiratory chain complex / Complex IV"""	7422	protein-coding gene	gene with protein product		516050	"""cytochrome c oxidase III"""	MTCO3			Standard			Approved	COX3, COIII, CO3		P00414		ENST00000362079.2:c.461A>G	chrM.hg19:g.9667A>G	ENSP00000354982:p.Asn154Ser	10.0	0.0	.		20.0	18.0	.	ENST00000362079	Q14Y83	Missense_Mutation	SNP	ENST00000362079.2	hg19																																																																																				.	.	.	none		0.433	MT-CO3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024032	
MT-ND4	4538	hgsc.bcm.edu	37	M	12128	12128	+	Missense_Mutation	SNP	T	T	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chrM:12128T>C	ENST00000361381.2	+	1	1369	c.1369T>C	c.(1369-1371)Ttt>Ctt	p.F457L	MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA			P03905	NU4M_HUMAN	mitochondrially encoded NADH dehydrogenase 4	457					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						TCATTACCGGGTTTTCCTCTT	0.423																																					p.F457L		Atlas-SNP	.											.	.	.	.	0			c.T1369C						PASS	.																																			SO:0001583	missense	0	exon1			ACCGGGTTTTCCT			mitochondria	2014-02-03	2005-02-15	2005-02-16	ENSG00000198886	ENSG00000198886	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7459	protein-coding gene	gene with protein product	"""complex I ND4 subunit"", ""NADH-ubiquinone oxidoreductase chain 4"""	516003	"""NADH dehydrogenase 4"", ""Leber optic neuropathy"""	MTND4, LHON		8103501	Standard			Approved	ND4, NAD4		P03905		ENST00000361381.2:c.1369T>C	chrM.hg19:g.12128T>C	ENSP00000354961:p.Phe457Leu	9.0	0.0	.		22.0	6.0	.	ENST00000361381	Q6RL39|Q6RQN9|Q8HNR8	Missense_Mutation	SNP	ENST00000361381.2	hg19																																																																																				.	.	.	none		0.423	MT-ND4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024035	
P2RY4	5030	hgsc.bcm.edu	37	X	69478929	69478931	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	GGT	GGT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chrX:69478929_69478931delGGT	ENST00000374519.2	-	1	723_725	c.544_546delACC	c.(544-546)accdel	p.T182del		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	182					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCACAGGACGGTGGTCCCTTTG	0.606																																					p.182_183del		Atlas-Indel,Pindel	.											.	P2RY4	39	.	0			c.545_547del						PASS	.																																			SO:0001651	inframe_deletion	5030	exon1			.	X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.544_546delACC	chrX.hg19:g.69478932_69478934delGGT	ENSP00000363643:p.Thr182del	61.0	0.0	0		51.0	28.0	0.54902	NM_002565	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	In_Frame_Del	DEL	ENST00000374519.2	hg19	CCDS14398.1																																																																																			.	.	.	none		0.606	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057058.2	NM_002565	
ARHGAP30	257106	hgsc.bcm.edu	37	1	161018636	161018638	+	In_Frame_Del	DEL	CTT	CTT	-	rs552705270|rs530896501		TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	CTT	CTT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:161018636_161018638delCTT	ENST00000368013.3	-	12	2493_2495	c.2173_2175delAAG	c.(2173-2175)aagdel	p.K725del	USF1_ENST00000368021.3_5'Flank|ARHGAP30_ENST00000368015.1_In_Frame_Del_p.K548del|ARHGAP30_ENST00000368016.3_Intron|USF1_ENST00000435396.1_5'Flank	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	725	Glu-rich.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TACTGTCAGCCTTCTTCTGACCT	0.478																																					p.725_726del		Atlas-Indel,Pindel	.											.	ARHGAP30	105	.	0			c.2174_2176del						PASS	.		,	2,4264		1,0,2132					,	2.5	0.0		dbSNP_126	261	4,8248		0,4,4122	no	intron,coding	ARHGAP30	NM_181720.2,NM_001025598.1	,	1,4,6254	A1A1,A1R,RR		0.0485,0.0469,0.0479	,	,		6,12512				SO:0001651	inframe_deletion	257106	exon12			.	AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.2173_2175delAAG	chr1.hg19:g.161018639_161018641delCTT	ENSP00000356992:p.Lys725del	128.0	0.0	0		102.0	13.0	0.127451	NM_001025598	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	In_Frame_Del	DEL	ENST00000368013.3	hg19	CCDS30918.1																																																																																			.	.	.	none		0.478	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077090.2	NM_181720	
TTN	7273	hgsc.bcm.edu	37	2	179397361	179397362	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:179397361_179397362insA	ENST00000591111.1	-	308	99281_99282	c.99057_99058insT	c.(99055-99060)gatgaafs	p.E33020fs	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000589042.1_Frame_Shift_Ins_p.E34661fs|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.E32093fs|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.E25788fs|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.E25596fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.E25721fs			Q8WZ42	TITIN_HUMAN	titin	33020					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)			AGTAATTCTTCATCAGAGATGT	0.455																																					p.E34661_E34662delinsX		Atlas-Indel,Pindel	.											.	TTN	18412	.	0			c.103981_103982insT						PASS	.																																			SO:0001589	frameshift_variant	7273	exon358			.	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.99058dupT	chr2.hg19:g.179397362_179397362dupA	ENSP00000465570:p.Glu33020fs	131.0	0.0	0		126.0	17.0	0.134921	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	Frame_Shift_Ins	INS	ENST00000591111.1	hg19																																																																																				.	.	.	none		0.455	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNM3	26052	hgsc.bcm.edu	37	1	171956839	171956839	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr1:171956839delT	ENST00000355305.5	+	3	436	c.279delT	c.(277-279)gatfs	p.D93fs	DNM3_ENST00000358155.4_Frame_Shift_Del_p.D93fs|DNM3_ENST00000520906.1_Frame_Shift_Del_p.D93fs|DNM3_ENST00000367731.1_Frame_Shift_Del_p.D93fs|DNM3_ENST00000367733.2_Frame_Shift_Del_p.D93fs			Q9UQ16	DYN3_HUMAN	dynamin 3	93	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AATTTACAGATTTTGATGAAG	0.343																																					p.D93fs		Atlas-Indel,Pindel	.											.	DNM3	85	.	0			c.278delA						PASS	.						134.0	149.0	145.0					1																	171956839		1824	4086	5910	SO:0001589	frameshift_variant	26052	exon3			.	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.279delT	chr1.hg19:g.171956839delT	ENSP00000347457:p.Asp93fs	71.0	0.0	0		46.0	12.0	0.26087	NM_001136127	A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Frame_Shift_Del	DEL	ENST00000355305.5	hg19																																																																																				.	.	.	none		0.343	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569	
LRP2	4036	hgsc.bcm.edu	37	2	170058231	170058232	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:170058231_170058232insA	ENST00000263816.3	-	44	8643_8644	c.8358_8359insT	c.(8356-8361)tttatgfs	p.M2787fs		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2787	LDL-receptor class A 18. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TTATTGCACATAAACTCCGTGG	0.45																																					p.M2787fs		Atlas-Indel,Pindel	.											.	LRP2	751	.	0			c.8359_8360insT						PASS	.																																			SO:0001589	frameshift_variant	4036	exon44			.		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8359dupT	chr2.hg19:g.170058234_170058234dupA	ENSP00000263816:p.Met2787fs	71.0	0.0	0		87.0	26.0	0.298851	NM_004525	O00711|Q16215	Frame_Shift_Ins	INS	ENST00000263816.3	hg19	CCDS2232.1																																																																																			.	.	.	none		0.450	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525	
CNTNAP5	129684	hgsc.bcm.edu	37	2	125547712	125547712	+	Frame_Shift_Del	DEL	A	A	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	A	A	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:125547712delA	ENST00000431078.1	+	18	3347	c.2983delA	c.(2983-2985)aaafs	p.K996fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	996					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCCCTTTTGCAAAAAAGGTAC	0.507																																					p.C994X		Atlas-Indel,Pindel	.											.,1	CNTNAP5	405	.	0			c.2982delC						PASS	.						46.0	51.0	49.0					2																	125547712		2015	4193	6208	SO:0001589	frameshift_variant	129684	exon18			.	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2983delA	chr2.hg19:g.125547712delA	ENSP00000399013:p.Lys996fs	219.0	0.0	0		243.0	101.0	0.415638	NM_130773	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	hg19	CCDS46401.1																																																																																			.	.	.	none		0.507	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
ARHGAP32	9743	hgsc.bcm.edu	37	11	128844881	128844883	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	GAA	GAA	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr11:128844881_128844883delGAA	ENST00000310343.9	-	20	2166_2168	c.2167_2169delTTC	c.(2167-2169)ttcdel	p.F723del	ARHGAP32_ENST00000524655.1_In_Frame_Del_p.F649del|ARHGAP32_ENST00000392657.3_In_Frame_Del_p.F374del|ARHGAP32_ENST00000527272.1_In_Frame_Del_p.F374del	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	723					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTCTGGGTCGGAAGAGCTTAGAA	0.443																																					p.723_724del		Atlas-Indel,Pindel	.											.	ARHGAP32	307	.	0			c.2168_2170del						PASS	.																																			SO:0001651	inframe_deletion	9743	exon20			.	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.2167_2169delTTC	chr11.hg19:g.128844881_128844883delGAA	ENSP00000310561:p.Phe723del	38.0	0.0	0		31.0	14.0	0.451613	NM_001142685	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	In_Frame_Del	DEL	ENST00000310343.9	hg19	CCDS44769.1																																																																																			.	.	.	none		0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
NEO1	4756	hgsc.bcm.edu	37	15	73409078	73409079	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr15:73409078_73409079insA	ENST00000339362.5	+	3	775_776	c.328_329insA	c.(328-330)tttfs	p.F110fs	NEO1_ENST00000261908.6_Frame_Shift_Ins_p.F110fs|NEO1_ENST00000560262.1_Frame_Shift_Ins_p.F110fs|NEO1_ENST00000558964.1_Frame_Shift_Ins_p.F110fs			Q92859	NEO1_HUMAN	neogenin 1	110	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TGGATCTTTATTTATCAGCAAT	0.376																																					p.F110fs		Atlas-INDEL	.											.	NEO1	102	.	0			c.328_329insA						PASS	.																																			SO:0001589	frameshift_variant	4756	exon2			.	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	Exception_encountered	chr15.hg19:g.73409078_73409079insA	ENSP00000341198:p.Phe110fs	90.0	0.0	0		51.0	13.0	0.254902	NM_001172623	B7ZKM9|B7ZKN0|O00340|Q17RX1	Frame_Shift_Ins	INS	ENST00000339362.5	hg19	CCDS10247.1																																																																																			.	.	.	none		0.376	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499	
GTF3C3	9330	hgsc.bcm.edu	37	2	197649653	197649653	+	Splice_Site	DEL	T	T	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	T	T	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr2:197649653delT	ENST00000263956.3	-	8	1131	c.1042delA	c.(1042-1044)ata>ta	p.I349fs	GTF3C3_ENST00000409364.3_Splice_Site_p.I349fs|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	349					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTGTAATTATCTAAAAGAAT	0.303																																					p.I348fs		Atlas-Indel,Pindel	.											.	GTF3C3	96	.	0			c.1043delT						PASS	.						48.0	49.0	49.0					2																	197649653		2202	4295	6497	SO:0001630	splice_region_variant	9330	exon8			.	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.1042-1A>-	chr2.hg19:g.197649653delT		39.0	0.0	0		68.0	17.0	0.25	NM_012086	Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Frame_Shift_Del	DEL	ENST00000263956.3	hg19	CCDS2316.1																																																																																			.	.	.	none		0.303	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1		Frame_Shift_Del
NEK10	152110	hgsc.bcm.edu	37	3	27346274	27346275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr3:27346274_27346275insA	ENST00000429845.2	-	13	1353_1354	c.991_992insT	c.(991-993)tggfs	p.W331fs	NEK10_ENST00000341435.5_Frame_Shift_Ins_p.W331fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	331					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GATGCCTCCCCAAATGCGAATT	0.49																																					p.W331fs		Atlas-Indel,Pindel	.											.	NEK10	271	.	0			c.992_993insT						PASS	.																																			SO:0001589	frameshift_variant	152110	exon13			.	AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.992dupT	chr3.hg19:g.27346277_27346277dupA	ENSP00000395849:p.Trp331fs	92.0	0.0	0		111.0	36.0	0.324324	NM_199347	A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Ins	INS	ENST00000429845.2	hg19																																																																																				.	.	.	none		0.490	NEK10-016	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000438156.1	NM_152534	
PSIP1	11168	hgsc.bcm.edu	37	9	15474059	15474060	+	Frame_Shift_Ins	INS	-	-	C			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr9:15474059_15474060insC	ENST00000380733.4	-	9	1148_1149	c.805_806insG	c.(805-807)gttfs	p.V269fs	PSIP1_ENST00000380738.4_Frame_Shift_Ins_p.V269fs|PSIP1_ENST00000380716.4_Frame_Shift_Ins_p.V269fs|PSIP1_ENST00000397519.2_Frame_Shift_Ins_p.V269fs|PSIP1_ENST00000380715.1_Frame_Shift_Ins_p.V269fs			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	269					establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		GGTTGAAGTAACCCCTGTTTTA	0.351																																					p.V269fs		Atlas-Indel,Pindel	.											.	PSIP1	93	.	0			c.806_807insG						PASS	.																																			SO:0001589	frameshift_variant	11168	exon9			.	AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.806dupG	chr9.hg19:g.15474063_15474063dupC	ENSP00000370109:p.Val269fs	104.0	0.0	0		84.0	12.0	0.142857	NM_001128217	D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	Frame_Shift_Ins	INS	ENST00000380733.4	hg19	CCDS6479.1																																																																																			.	.	.	none		0.351	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055445.1	NM_033222	
URB1	9875	hgsc.bcm.edu	37	21	33690029	33690033	+	Frame_Shift_Del	DEL	GGTCT	GGTCT	-			TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	GGTCT	GGTCT	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr21:33690029_33690033delGGTCT	ENST00000382751.3	-	37	6103_6107	c.5988_5992delAGACC	c.(5986-5994)gaagacctgfs	p.EDL1996fs		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1996						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						GCTGCTCTCAGGTCTTCCTGGAGCT	0.537																																					p.1997_1998del		Atlas-INDEL	.											.	URB1	176	.	0			c.5989_5993del						PASS	.																																			SO:0001589	frameshift_variant	9875	exon37			.	AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.5988_5992delAGACC	chr21.hg19:g.33690029_33690033delGGTCT	ENSP00000372199:p.Glu1996fs	99.0	0.0	0		62.0	10.0	0.16129	NM_014825	D3DSE5|Q96NX1|Q9NYQ1	Frame_Shift_Del	DEL	ENST00000382751.3	hg19	CCDS46645.1																																																																																			.	.	.	none		0.537	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139400.2		
FANCA	2175	hgsc.bcm.edu	37	16	89831438	89831439	+	In_Frame_Ins	INS	-	-	GGCCTCTGA	rs149435806	byFrequency	TCGA-V9-A7HT-01A-11D-A33Q-10	TCGA-V9-A7HT-10A-01D-A33Q-10	-	-	.	.	.	.	Unknown	Untested	Somatic	PhaseI	WXS	none	.		Illumina HiSeq	45bfc21a-7f33-4ce5-aad0-3daef129ceeb	452a55d9-c5f9-495b-acf0-4bf10ff5e529	g.chr16:89831438_89831439insGGCCTCTGA	ENST00000389301.3	-	28	2667_2668	c.2637_2638insTCAGAGGCC	c.(2635-2640)gcccga>gccTCAGAGGCCcga	p.878_879insASE	FANCA_ENST00000568369.1_In_Frame_Ins_p.878_879insASE	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	878					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGGCTGTCGGGCCTCTGAGA	0.535			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																												p.R880delinsSEAR		Pindel	.	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	.	FANCA	99	.	0			c.2638_2639insTCAGAGGCC	GRCh37	CM080346	FANCA	M		PASS	.																																			SO:0001652	inframe_insertion	2175	exon28	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	.	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.2629_2637dupTCAGAGGCC	chr16.hg19:g.89831439_89831447dupGGCCTCTGA	ENSP00000373952:p.Glu878_Ala879insAlaSerGlu	91.0	0.0	.		80.0	12.0	0.150	NM_000135	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	In_Frame_Ins	INS	ENST00000389301.3	hg19	CCDS32515.1																																																																																			.	.	.	none		0.535	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		
