#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_ACHILLES_Lineage_Results_Top_Genes	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_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	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_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	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
CUBN	8029	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	16990512	16990512	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:16990512C>G	ENST00000377833.4	-	35	5239	c.5174G>C	c.(5173-5175)gGg>gCg	p.G1725A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGGAAACCCCCAGCACTGAT	0.512																																																0													86.0	73.0	77.0					10																	16990512		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.5174G>C	10.37:g.16990512C>G	ENSP00000367064:p.Gly1725Ala		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	4.690	0.128230	0.08981	.	.	ENSG00000107611	ENST00000377833	T	0.16597	2.33	5.55	-9.1	0.00714	CUB (5);	2.784540	0.01338	N	0.011467	T	0.07413	0.0187	N	0.19112	0.55	0.09310	N	0.999999	B	0.09022	0.002	B	0.11329	0.006	T	0.27640	-1.0068	10	0.09338	T	0.73	.	3.3176	0.07039	0.1849:0.3928:0.0946:0.3278	.	1725	O60494	CUBN_HUMAN	A	1725	ENSP00000367064:G1725A	ENSP00000367064:G1725A	G	-	2	0	CUBN	17030518	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.370000	0.07523	-1.421000	0.02007	-0.793000	0.03317	GGG		0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		15	62	15	62
OR52E8	390079	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	5878264	5878264	+	Nonsense_Mutation	SNP	A	A	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:5878264A>C	ENST00000537935.1	-	1	700	c.669T>G	c.(667-669)taT>taG	p.Y223*	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCTGACATAGGAGAGAA	0.463																																																0													71.0	78.0	76.0					11																	5878264		2144	4296	6440	SO:0001587	stop_gained	390079			BK004301	CCDS31400.1	11p15.4	2012-08-09	2003-12-15		ENSG00000183269	ENSG00000183269		"""GPCR / Class A : Olfactory receptors"""	15217	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily E, member 8 pseudogene"""				Standard	NM_001005168		Approved		uc010qzr.2	Q6IFG1	OTTHUMG00000168803	ENST00000537935.1:c.669T>G	11.37:g.5878264A>C	ENSP00000444054:p.Tyr223*		B9EH38	Nonsense_Mutation	SNP	ENST00000537935.1	37	CCDS31400.1	.	.	.	.	.	.	.	.	.	.	A	13.34	2.208456	0.39003	.	.	ENSG00000183269	ENST00000537935	.	.	.	4.53	2.26	0.28386	.	0.000000	0.50627	D	0.000111	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.0801	0.14651	0.6273:0.0:0.3727:0.0	.	.	.	.	X	223	.	ENSP00000444054:Y223X	Y	-	3	2	OR52E8	5834840	0.000000	0.05858	0.684000	0.30055	0.086000	0.17979	-0.126000	0.10563	0.886000	0.36113	0.448000	0.29417	TAT		0.463	OR52E8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401145.1	NM_001005168		12	28	12	28
LRP4	4038	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	46893136	46893136	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:46893136G>A	ENST00000378623.1	-	31	4874	c.4632C>T	c.(4630-4632)ctC>ctT	p.L1544L	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1544					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTTCCCATTGAGGTCAGCAC	0.557																																																0													115.0	95.0	102.0					11																	46893136		2201	4299	6500	SO:0001819	synonymous_variant	4038			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4632C>T	11.37:g.46893136G>A			B2RN39|Q4AC85|Q5KTZ5	Silent	SNP	ENST00000378623.1	37	CCDS31478.1																																																																																				0.557	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		18	19	18	19
HTR3B	9177	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	113803068	113803068	+	Silent	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113803068C>A	ENST00000260191.2	+	5	683	c.426C>A	c.(424-426)acC>acA	p.T142T	HTR3B_ENST00000537778.1_Silent_p.T131T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	142					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	CATCTGGGACCATTGAGAACT	0.433																																																0													195.0	172.0	179.0					11																	113803068		2201	4296	6497	SO:0001819	synonymous_variant	9177			AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.426C>A	11.37:g.113803068C>A			B0YJ23|Q0VJC3	Silent	SNP	ENST00000260191.2	37	CCDS8364.1	.	.	.	.	.	.	.	.	.	.	C	7.323	0.617338	0.14129	.	.	ENSG00000149305	ENST00000543092	.	.	.	5.61	7.64E-4	0.14043	.	.	.	.	.	T	0.45438	0.1342	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.25641	-1.0126	4	.	.	.	-15.8257	4.4422	0.11579	0.3379:0.3735:0.2204:0.0682	.	.	.	.	Q	71	.	.	P	+	2	0	HTR3B	113308278	0.510000	0.26171	0.927000	0.36925	0.919000	0.55068	0.163000	0.16520	0.021000	0.15133	0.563000	0.77884	CCA		0.433	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398842.1	NM_006028		19	192	19	192
SNX19	399979	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	130750571	130750571	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:130750571G>A	ENST00000265909.4	-	9	3273	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	SNX19_ENST00000545537.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000528555.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000530356.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000426933.2_Nonsense_Mutation_p.Q70*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000534726.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q345*	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	902					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCAGTTTCTGCTCTTGGGTC	0.517																																																0													129.0	134.0	132.0					11																	130750571		2201	4297	6498	SO:0001587	stop_gained	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2704C>T	11.37:g.130750571G>A	ENSP00000265909:p.Gln902*		E9PKB9|Q8IV55	Nonsense_Mutation	SNP	ENST00000265909.4	37	CCDS31721.1	.	.	.	.	.	.	.	.	.	.	G	42	9.499604	0.99187	.	.	ENSG00000120451	ENST00000265909;ENST00000534726;ENST00000545537;ENST00000426933;ENST00000528555;ENST00000530356;ENST00000539184	.	.	.	6.08	6.08	0.98989	.	0.115114	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-19.5778	20.6634	0.99662	0.0:0.0:1.0:0.0	.	.	.	.	X	902;142;142;70;282;282;345	.	ENSP00000265909:Q902X	Q	-	1	0	SNX19	130255781	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.932000	0.87634	2.894000	0.99253	0.655000	0.94253	CAG		0.517	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385649.1	NM_014758		52	263	52	263
HMGA2	8091	hgsc.bcm.edu;broad.mit.edu	37	12	66221789	66221789	+	Silent	SNP	C	C	T	rs552619480		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:66221789C>T	ENST00000403681.2	+	2	1260	c.120C>T	c.(118-120)acC>acT	p.T40T	HMGA2_ENST00000393577.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000541363.1_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|RPSAP52_ENST00000489520.2_RNA|HMGA2_ENST00000393578.3_Silent_p.T40T	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""																																		Dom	yes		12	12q15	8091	high mobility group AT-hook 2 (HMGIC)		M	0													79.0	86.0	83.0					12																	66221789		2203	4300	6503	SO:0001819	synonymous_variant	8091			U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.120C>T	12.37:g.66221789C>T			E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Silent	SNP	ENST00000403681.2	37	CCDS44936.1																																																																																				0.448	HMGA2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401654.1	NM_003483		5	71	5	71
PTPRB	5787	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	70954486	70954486	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:70954486T>C	ENST00000261266.5	-	15	3772	c.3743A>G	c.(3742-3744)gAt>gGt	p.D1248G	PTPRB_ENST00000551525.1_Missense_Mutation_p.D1465G|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1158G|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1378G|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000334414.6_Missense_Mutation_p.D1466G	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1248	Fibronectin type-III 14. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTGCTGAGATCTCCACTGTG	0.512																																																0													85.0	91.0	89.0					12																	70954486		2071	4207	6278	SO:0001583	missense	5787			X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.3743A>G	12.37:g.70954486T>C	ENSP00000261266:p.Asp1248Gly		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	14.19	2.460047	0.43736	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49;0.49;0.49	5.44	5.44	0.79542	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.214384	0.46758	D	0.000273	T	0.46908	0.1417	L	0.39633	1.23	0.52501	D	0.999951	B;B;B;B;B;B;B	0.19935	0.018;0.009;0.04;0.029;0.018;0.005;0.016	B;B;B;B;B;B;B	0.27887	0.03;0.03;0.084;0.049;0.03;0.032;0.026	T	0.35674	-0.9779	10	0.26408	T	0.33	.	15.4876	0.75578	0.0:0.0:0.0:1.0	.	1158;1158;1345;1465;1466;1248;1378	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	G	1466;1158;1378;1158;1158;1248;1465;1345	ENSP00000334928:D1466G;ENSP00000393028:D1158G;ENSP00000448058:D1378G;ENSP00000438927:D1158G;ENSP00000447302:D1158G;ENSP00000261266:D1248G;ENSP00000448349:D1465G;ENSP00000446982:D1345G	ENSP00000261266:D1248G	D	-	2	0	PTPRB	69240753	1.000000	0.71417	0.993000	0.49108	0.911000	0.54048	5.852000	0.69488	2.047000	0.60756	0.460000	0.39030	GAT		0.512	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			9	65	9	65
SHF	90525	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	45470424	45470424	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:45470424T>C	ENST00000560734.1	-	2	579	c.579A>G	c.(577-579)ccA>ccG	p.P193P	SHF_ENST00000560471.1_Silent_p.P193P|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000560540.1_Silent_p.P193P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000318390.6_Silent_p.P185P|SHF_ENST00000290894.8_Silent_p.P128P					Src homology 2 domain containing F											endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGACCTTCTCTGGGGCTCCTG	0.567																																																0													72.0	67.0	69.0					15																	45470424		2198	4298	6496	SO:0001819	synonymous_variant	90525			BC007586	CCDS10120.2, CCDS73721.1	15q21.1	2013-02-14			ENSG00000138606	ENSG00000138606		"""SH2 domain containing"""	25116	protein-coding gene	gene with protein product						11095946	Standard	NM_138356		Approved		uc001zuy.3	Q7M4L6	OTTHUMG00000131353	ENST00000560734.1:c.579A>G	15.37:g.45470424T>C				Silent	SNP	ENST00000560734.1	37																																																																																					0.567	SHF-004	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000416338.1	NM_138356		16	41	16	41
RHBDF1	64285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	111434	111434	+	Silent	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:111434G>A	ENST00000262316.6	-	10	1486	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	RHBDF1_ENST00000454039.2_Silent_p.Y448Y	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	448					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACGTTCTCGTAGACCCCGC	0.716																																																0													21.0	21.0	21.0					16																	111434		2202	4298	6500	SO:0001819	synonymous_variant	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1344C>T	16.37:g.111434G>A			Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Silent	SNP	ENST00000262316.6	37	CCDS32344.1																																																																																				0.716	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2	NM_022450		7	56	7	56
PRSS22	64063	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	2906139	2906139	+	Silent	SNP	G	G	A	rs200127582		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:2906139G>A	ENST00000161006.3	-	3	290	c.225C>T	c.(223-225)tgC>tgT	p.C75C	PRSS22_ENST00000574768.1_5'UTR|LA16c-325D7.1_ENST00000577140.1_RNA|PRSS22_ENST00000571228.1_Silent_p.C75C	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	75	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGAACCTGCGCAGTGGTGGG	0.617													g|||	1	0.000199681	0.0	0.0	5008	,	,		15163	0.0		0.001	False		,,,				2504	0.0															0													72.0	70.0	71.0					16																	2906139		2198	4300	6498	SO:0001819	synonymous_variant	64063			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.225C>T	16.37:g.2906139G>A			O43342|Q6UXE0	Silent	SNP	ENST00000161006.3	37	CCDS10481.1																																																																																				0.617	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250943.1	NM_022119		17	99	17	99
ERCC4	2072	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	14031642	14031642	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:14031642G>A	ENST00000311895.7	+	9	1840	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R	CTD-2135D7.2_ENST00000570663.1_RNA|CTD-2135D7.2_ENST00000575137.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	611			Missing (in XP-F). {ECO:0000269|PubMed:9580660}.		DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTTATATACGGAGGTTCAAC	0.363			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0													92.0	90.0	91.0					16																	14031642		2197	4300	6497	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1831G>A	16.37:g.14031642G>A	ENSP00000310520:p.Gly611Arg		A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.492646	0.84962	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.65364	-0.15	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.73606	0.3608	M	0.67397	2.05	0.80722	D	1	D	0.76494	0.999	P	0.56865	0.808	T	0.73313	-0.4022	10	0.41790	T	0.15	-32.9694	17.8015	0.88589	0.0:0.0:1.0:0.0	.	611	Q92889	XPF_HUMAN	R	611;599	ENSP00000310520:G611R	ENSP00000310520:G611R	G	+	1	0	ERCC4	13939143	1.000000	0.71417	0.979000	0.43373	0.986000	0.74619	8.500000	0.90498	2.640000	0.89533	0.655000	0.94253	GGA		0.363	ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236		22	55	22	55
ANKRD11	29123	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	89348104	89348104	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:89348104C>T	ENST00000301030.4	-	9	5306	c.4846G>A	c.(4846-4848)Gga>Aga	p.G1616R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1616R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1616	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGGGGTCTCCGGACCGGTGC	0.607																																																0													84.0	87.0	86.0					16																	89348104		2198	4300	6498	SO:0001583	missense	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.4846G>A	16.37:g.89348104C>T	ENSP00000301030:p.Gly1616Arg		Q6NTG1|Q6QMF8	Missense_Mutation	SNP	ENST00000301030.4	37	CCDS32513.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320637	0.60634	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.42900	0.96;0.96	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.54319	0.1851	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.51553	-0.8691	10	0.36615	T	0.2	.	18.0337	0.89292	0.0:1.0:0.0:0.0	.	1616	Q6UB99	ANR11_HUMAN	R	1616	ENSP00000301030:G1616R;ENSP00000367581:G1616R	ENSP00000301030:G1616R	G	-	1	0	ANKRD11	87875605	1.000000	0.71417	0.999000	0.59377	0.746000	0.42486	7.198000	0.77823	2.349000	0.79799	0.455000	0.32223	GGA		0.607	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		23	110	23	110
TP53	7157	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(1)	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343						65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		28	13	28	13
MYO19	80179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	34866651	34866651	+	Missense_Mutation	SNP	C	C	T	rs532960922		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:34866651C>T	ENST00000431794.3	-	13	1613	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MYO19_ENST00000268852.9_Missense_Mutation_p.R364Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	364	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGGCTTCCGGAACACCTG	0.627													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18796	0.0		0.0	False		,,,				2504	0.0															0													31.0	37.0	35.0					17																	34866651		2057	4183	6240	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1091G>A	17.37:g.34866651C>T	ENSP00000409936:p.Arg364Gln		Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	C	12.27	1.888181	0.33348	.	.	ENSG00000141140	ENST00000415126;ENST00000431794;ENST00000268852	D;D	0.86956	-2.19;-2.19	5.88	-0.966	0.10320	Myosin head, motor domain (2);	0.624634	0.13015	N	0.420564	T	0.70439	0.3224	N	0.12887	0.27	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.50197	-0.8856	10	0.18710	T	0.47	.	6.9286	0.24429	0.0:0.3373:0.1329:0.5298	.	364;364	Q96H55;Q96H55-4	MYO19_HUMAN;.	Q	99;364;364	ENSP00000409936:R364Q;ENSP00000268852:R364Q	ENSP00000268852:R364Q	R	-	2	0	MYO19	31940764	0.910000	0.30920	0.993000	0.49108	0.966000	0.64601	-0.003000	0.12901	-0.368000	0.08040	-0.137000	0.14449	CGG		0.627	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		7	13	7	13
FCGBP	8857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40357728	40357728	+	Silent	SNP	G	G	A	rs370196020		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:40357728G>A	ENST00000221347.6	-	34	15592	c.15585C>T	c.(15583-15585)agC>agT	p.S5195S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5195	Cys-rich.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACAGCGCTCGCTGCAGTCTG	0.587																																																0								G		0,4406		0,0,2203	60.0	52.0	55.0		15585	-5.7	0.0	19		55	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		5195/5406	40357728	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15585C>T	19.37:g.40357728G>A			O95784	Silent	SNP	ENST00000221347.6	37	CCDS12546.1																																																																																				0.587	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		12	40	12	40
PPP1R12C	54776	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	55605714	55605714	+	Splice_Site	SNP	T	T	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:55605714T>G	ENST00000263433.3	-	13	1697	c.1682A>C	c.(1681-1683)cAg>cCg	p.Q561P	PPP1R12C_ENST00000435544.2_Splice_Site_p.Q487P|PPP1R12C_ENST00000376393.2_Splice_Site_p.Q561P	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCCCACACCTGTGTGGACCT	0.657																																																0													65.0	66.0	65.0					19																	55605714		2203	4300	6503	SO:0001630	splice_region_variant	54776			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.1683+1A>C	19.37:g.55605714T>G				Splice_Site	SNP	ENST00000263433.3	37	CCDS12916.1	.	.	.	.	.	.	.	.	.	.	T	17.44	3.389150	0.61956	.	.	ENSG00000125503	ENST00000263433;ENST00000376393;ENST00000435544	D;T;D	0.86432	-1.93;-0.74;-2.12	4.79	3.69	0.42338	.	0.000000	0.85682	D	0.000000	D	0.91529	0.7325	M	0.75615	2.305	0.44162	D	0.99696	D;D;D	0.76494	0.999;0.981;0.999	D;D;D	0.76071	0.942;0.987;0.981	D	0.91475	0.5200	10	0.72032	D	0.01	.	8.7865	0.34823	0.169:0.0:0.0:0.831	.	487;560;561	B4DME2;Q9BZL4-3;Q9BZL4	.;.;PP12C_HUMAN	P	561;561;487	ENSP00000263433:Q561P;ENSP00000365573:Q561P;ENSP00000387833:Q487P	ENSP00000263433:Q561P	Q	-	2	0	PPP1R12C	60297526	1.000000	0.71417	0.995000	0.50966	0.644000	0.38419	6.499000	0.73683	1.935000	0.56089	0.459000	0.35465	CAG		0.657	PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	Missense_Mutation	27	135	27	135
AGL	178	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	100346642	100346642	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:100346642C>T	ENST00000294724.4	+	15	2388	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	AGL_ENST00000361522.4_Missense_Mutation_p.A620V|AGL_ENST00000370165.3_Missense_Mutation_p.A637V|AGL_ENST00000361302.3_Missense_Mutation_p.A621V|AGL_ENST00000370163.3_Missense_Mutation_p.A637V|AGL_ENST00000370161.2_Missense_Mutation_p.A621V|AGL_ENST00000361915.3_Missense_Mutation_p.A637V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	637					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATAGATCAGCGTATGATGCT	0.353																																																0													172.0	155.0	161.0					1																	100346642		2203	4300	6503	SO:0001583	missense	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.1910C>T	1.37:g.100346642C>T	ENSP00000294724:p.Ala637Val		A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	ENST00000294724.4	37	CCDS759.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.840044	0.00573	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	5.9	1.83	0.25207	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.268127	0.42821	N	0.000658	T	0.43033	0.1229	N	0.12471	0.22	0.50632	D	0.999882	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.002;0.0	T	0.47420	-0.9119	10	0.02654	T	1	.	6.4565	0.21932	0.1271:0.6603:0.0:0.2126	.	620;621;637	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	V	637;637;637;637;621;621;620	ENSP00000355106:A637V;ENSP00000359184:A637V;ENSP00000359182:A637V;ENSP00000294724:A637V;ENSP00000354971:A621V;ENSP00000359180:A621V;ENSP00000354635:A620V	ENSP00000294724:A637V	A	+	2	0	AGL	100119230	0.040000	0.19996	0.151000	0.22473	0.148000	0.21650	0.413000	0.21148	0.069000	0.16605	-0.137000	0.14449	GCG		0.353	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029778.1	NM_000028		17	69	17	69
CEPT1	10390	hgsc.bcm.edu;broad.mit.edu	37	1	111726868	111726868	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:111726868C>T	ENST00000545121.1	+	9	1395	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	CEPT1_ENST00000357172.4_Missense_Mutation_p.A396V|RP5-1180E21.4_ENST00000607951.1_RNA|RP5-1180E21.5_ENST00000610049.1_RNA|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	396					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AATCAGATTGCGTCTCACCTG	0.398																																																0													183.0	171.0	175.0					1																	111726868		2203	4300	6503	SO:0001583	missense	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.1187C>T	1.37:g.111726868C>T	ENSP00000441980:p.Ala396Val		Q69YJ9|Q9P0Y8	Missense_Mutation	SNP	ENST00000545121.1	37	CCDS830.1	.	.	.	.	.	.	.	.	.	.	C	32	5.122067	0.94429	.	.	ENSG00000134255	ENST00000545121;ENST00000357172	T;T	0.44881	0.91;0.91	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.59487	0.2197	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	D	0.65443	0.935	T	0.63453	-0.6634	10	0.87932	D	0	-9.8794	17.4314	0.87540	0.0:1.0:0.0:0.0	.	396	Q9Y6K0	CEPT1_HUMAN	V	396	ENSP00000441980:A396V;ENSP00000349696:A396V	ENSP00000349696:A396V	A	+	2	0	CEPT1	111528391	1.000000	0.71417	0.959000	0.39883	0.994000	0.84299	7.298000	0.78815	2.711000	0.92665	0.655000	0.94253	GCG		0.398	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034462.2	NM_006090		6	121	6	121
TCHH	7062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	152080904	152080904	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:152080904A>T	ENST00000368804.1	-	2	4788	c.4789T>A	c.(4789-4791)Ttc>Atc	p.F1597I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCATGAATTTTCTCTCT	0.582																																																0													74.0	75.0	74.0					1																	152080904		1925	4123	6048	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4789T>A	1.37:g.152080904A>T	ENSP00000357794:p.Phe1597Ile		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	9.468	1.094854	0.20471	.	.	ENSG00000159450	ENST00000368804	T	0.04917	3.53	3.01	-1.38	0.09027	.	.	.	.	.	T	0.01156	0.0038	L	0.43152	1.355	0.09310	N	1	B	0.33549	0.417	B	0.19666	0.026	T	0.47195	-0.9136	9	0.22109	T	0.4	.	2.9985	0.06005	0.459:0.0:0.3449:0.1961	.	1597	Q07283	TRHY_HUMAN	I	1597	ENSP00000357794:F1597I	ENSP00000357794:F1597I	F	-	1	0	TCHH	150347528	0.002000	0.14202	0.034000	0.17996	0.078000	0.17371	0.545000	0.23268	0.215000	0.20761	0.155000	0.16302	TTC		0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		35	73	35	73
CFH	3075	hgsc.bcm.edu;broad.mit.edu	37	1	196642210	196642210	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:196642210C>A	ENST00000359637.2	+	2	223	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CFH_ENST00000367429.4_Missense_Mutation_p.P54H|CFH_ENST00000439155.2_Missense_Mutation_p.P54H|CFH_ENST00000496761.1_3'UTR			P08603	CFAH_HUMAN	complement factor H	116	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.			RP -> IL (in Ref. 5; CAB41739). {ECO:0000305}.	complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGCCGCCCTGGATATAGA	0.403																																																0													75.0	81.0	79.0					1																	196642210		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.161C>A	1.37:g.196642210C>A	ENSP00000352658:p.Pro54His		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37		.	.	.	.	.	.	.	.	.	.	C	14.11	2.437150	0.43224	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.67171	-0.25;-0.25;-0.25	5.12	4.2	0.49525	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.80116	0.4564	M	0.80183	2.485	0.28895	N	0.893622	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.998	T	0.72171	-0.4371	9	0.37606	T	0.19	.	9.5043	0.39037	0.0:0.9012:0.0:0.0988	.	54;54;54;54	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	54	ENSP00000356399:P54H;ENSP00000402656:P54H;ENSP00000352658:P54H	ENSP00000352658:P54H	P	+	2	0	CFH	194908833	1.000000	0.71417	0.948000	0.38648	0.191000	0.23601	3.997000	0.57016	1.153000	0.42468	0.561000	0.74099	CCT		0.403	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		9	117	9	117
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	237872820	237872820	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:237872820C>T	ENST00000366574.2	+	70	10500	c.10183C>T	c.(10183-10185)Ctc>Ttc	p.L3395F	RYR2_ENST00000360064.6_Missense_Mutation_p.L3393F|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3379F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3395					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGGAGCTCTTCCGCAT	0.418																																																0													96.0	95.0	95.0					1																	237872820		1934	4135	6069	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10183C>T	1.37:g.237872820C>T	ENSP00000355533:p.Leu3395Phe		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046028	0.75846	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	T;D;T	0.98249	-0.39;-4.82;-0.39	5.5	3.61	0.41365	.	0.000000	0.49916	D	0.000122	D	0.98754	0.9581	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99383	1.0923	10	0.87932	D	0	-10.9438	10.6876	0.45852	0.0:0.7788:0.0:0.2212	.	3395	Q92736	RYR2_HUMAN	F	3395;3393;3379;350	ENSP00000355533:L3395F;ENSP00000353174:L3393F;ENSP00000443798:L3379F	ENSP00000353174:L3393F	L	+	1	0	RYR2	235939443	0.938000	0.31826	0.315000	0.25238	0.982000	0.71751	1.683000	0.37638	1.309000	0.44985	0.655000	0.94253	CTC		0.418	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		10	12	10	12
ZNF638	27332	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	71590305	71590305	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:71590305A>C	ENST00000409544.1	+	4	2032	c.1402A>C	c.(1402-1404)Atc>Ctc	p.I468L	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.I468L|ZNF638_ENST00000377802.2_Missense_Mutation_p.I468L|ZNF638_ENST00000264447.4_Missense_Mutation_p.I468L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	468					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATCCTGAGATCCTCCCATC	0.264																																																0													56.0	57.0	56.0					2																	71590305		2201	4286	6487	SO:0001583	missense	27332			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.1402A>C	2.37:g.71590305A>C	ENSP00000386433:p.Ile468Leu		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030240	0.35797	.	.	ENSG00000075292	ENST00000410075;ENST00000544512;ENST00000394137;ENST00000355812;ENST00000377802;ENST00000264447;ENST00000409544	T;T;T;T;T;T	0.72051	-0.03;-0.62;0.56;-0.02;1.57;1.57	5.33	2.88	0.33553	.	0.449512	0.24005	N	0.042423	T	0.64159	0.2573	N	0.14661	0.345	0.31069	N	0.713202	P;P;P;D;D;P	0.56746	0.923;0.826;0.826;0.977;0.96;0.826	P;P;P;D;P;P	0.67103	0.584;0.811;0.811;0.949;0.891;0.811	T	0.62784	-0.6781	10	0.48119	T	0.1	-6.6911	3.81	0.08793	0.7141:0.0:0.0985:0.1874	.	468;574;468;468;468;468	A8K583;F5H330;Q14966-4;Q14966-3;Q14966;Q14966-2	.;.;.;.;ZN638_HUMAN;.	L	468;574;47;468;468;468;468	ENSP00000386669:I468L;ENSP00000438189:I574L;ENSP00000348066:I468L;ENSP00000367033:I468L;ENSP00000264447:I468L;ENSP00000386433:I468L	ENSP00000264447:I468L	I	+	1	0	ZNF638	71443813	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.113000	0.50376	2.156000	0.67533	0.528000	0.53228	ATC		0.264	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		26	51	26	51
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	rs121913499		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	679	Substitution - Missense(678)|Complex - compound substitution(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)											81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>A	2.37:g.209113113G>T	ENSP00000390265:p.Arg132Ser		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588857	0.86851	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96519	0.8864	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.60682	0.878	D	0.98220	1.0477	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	S	132	ENSP00000260985:R132S;ENSP00000410513:R132S;ENSP00000390265:R132S;ENSP00000391075:R132S	ENSP00000260985:R132S	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	107	34	107
TRPM8	79054	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	234905020	234905020	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:234905020A>G	ENST00000324695.4	+	22	3030	c.2990A>G	c.(2989-2991)cAg>cGg	p.Q997R	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q575R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	997					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAAGTTCCAGAGGTACTTC	0.537																																																0													123.0	119.0	120.0					2																	234905020		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2990A>G	2.37:g.234905020A>G	ENSP00000323926:p.Gln997Arg		A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	ENST00000324695.4	37	CCDS33407.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687847	0.88639	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.62232	0.04;0.04;0.04	5.61	5.61	0.85477	.	0.000000	0.64402	D	0.000004	T	0.79227	0.4410	M	0.78916	2.43	0.32342	N	0.559659	D;D	0.89917	1.0;0.987	D;D	0.76071	0.987;0.953	D	0.84869	0.0824	10	0.87932	D	0	-32.8911	14.9253	0.70871	1.0:0.0:0.0:0.0	.	575;997	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	R	997;575;258	ENSP00000323926:Q997R;ENSP00000404423:Q575R;ENSP00000414198:Q258R	ENSP00000323926:Q997R	Q	+	2	0	TRPM8	234569759	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.296000	0.78790	2.254000	0.74563	0.533000	0.62120	CAG		0.537	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	NM_024080		9	82	9	82
KCNH8	131096	hgsc.bcm.edu;broad.mit.edu	37	3	19575424	19575424	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:19575424G>T	ENST00000328405.2	+	16	3423	c.3157G>T	c.(3157-3159)Ggc>Tgc	p.G1053C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1053	Ser-rich.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAGAGGAGGGCAGCTTCAG	0.488																																					NSCLC(124;1625 1765 8018 24930 42026)											0													84.0	80.0	82.0					3																	19575424		2203	4300	6503	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.3157G>T	3.37:g.19575424G>T	ENSP00000328813:p.Gly1053Cys		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248361	0.59103	.	.	ENSG00000183960	ENST00000328405	D	0.99042	-5.36	5.5	4.62	0.57501	.	0.000000	0.32190	U	0.006455	D	0.98801	0.9596	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99019	1.0817	9	.	.	.	.	14.1525	0.65395	0.0724:0.0:0.9276:0.0	.	1053	Q96L42	KCNH8_HUMAN	C	1053	ENSP00000328813:G1053C	.	G	+	1	0	KCNH8	19550428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.731000	0.26058	1.317000	0.45149	0.655000	0.94253	GGC		0.488	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		5	52	5	52
ABI3BP	25890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	100489774	100489774	+	Silent	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:100489774T>C	ENST00000284322.5	-	29	2530	c.2421A>G	c.(2419-2421)caA>caG	p.Q807Q	ABI3BP_ENST00000471714.1_Silent_p.Q1509Q|ABI3BP_ENST00000383691.4_Silent_p.Q761Q	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	807					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCAGGCTTTTGGATGTATC	0.468																																																0													168.0	169.0	169.0					3																	100489774		1967	4171	6138	SO:0001819	synonymous_variant	25890			AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.2421A>G	3.37:g.100489774T>C			B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Silent	SNP	ENST00000284322.5	37	CCDS46880.1	.	.	.	.	.	.	.	.	.	.	T	8.106	0.777768	0.16120	.	.	ENSG00000154175	ENST00000495591	.	.	.	5.98	0.835	0.18886	.	.	.	.	.	T	0.58495	0.2126	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51434	-0.8706	4	.	.	.	-0.3298	10.4645	0.44600	0.0:0.3434:0.0:0.6566	.	.	.	.	R	863	.	.	K	-	2	0	ABI3BP	101972464	0.970000	0.33590	0.793000	0.32043	0.899000	0.52679	0.102000	0.15272	-0.071000	0.12886	0.482000	0.46254	AAA		0.468	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			21	158	21	158
GPR149	344758	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	154146852	154146852	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:154146852C>T	ENST00000389740.2	-	1	652	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	185					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAGCAGTCCACCAGGCAG	0.657																																																0													31.0	37.0	35.0					3																	154146852		2054	4195	6249	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.553G>A	3.37:g.154146852C>T	ENSP00000374390:p.Asp185Asn			Missense_Mutation	SNP	ENST00000389740.2	37	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.280401	0.80692	.	.	ENSG00000174948	ENST00000389740	T	0.34859	1.34	5.41	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.269934	0.42294	D	0.000736	T	0.50274	0.1606	M	0.84433	2.695	0.39380	D	0.966245	P	0.47484	0.896	P	0.46419	0.516	T	0.62859	-0.6765	10	0.72032	D	0.01	-23.0233	13.7786	0.63069	0.0:0.9268:0.0:0.0732	.	185	Q86SP6	GP149_HUMAN	N	185	ENSP00000374390:D185N	ENSP00000374390:D185N	D	-	1	0	GPR149	155629546	0.985000	0.35326	0.746000	0.31095	0.860000	0.49131	2.675000	0.46875	1.289000	0.44618	0.655000	0.94253	GAC		0.657	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		7	47	7	47
STATH	6779	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	70866654	70866654	+	Silent	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:70866654A>G	ENST00000246895.4	+	5	288	c.177A>G	c.(175-177)caA>caG	p.Q59Q	STATH_ENST00000381060.2_Silent_p.Q49Q	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	59	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|ossification (GO:0001503)|saliva secretion (GO:0046541)	extracellular region (GO:0005576)	extracellular matrix constituent, lubricant activity (GO:0030197)|hydroxyapatite binding (GO:0046848)|structural constituent of tooth enamel (GO:0030345)			lung(2)|skin(1)	3						AATACCAACAATATACCTTTT	0.373																																																0													224.0	201.0	209.0					4																	70866654		2203	4300	6503	SO:0001819	synonymous_variant	6779				CCDS3533.1, CCDS33998.1	4q13.3	2012-10-02			ENSG00000126549	ENSG00000126549			11369	protein-coding gene	gene with protein product		184470				3502720	Standard	NM_003154		Approved	STR	uc003heu.1	P02808	OTTHUMG00000129394	ENST00000246895.4:c.177A>G	4.37:g.70866654A>G			A6NKE9|B2R4F8	Silent	SNP	ENST00000246895.4	37	CCDS3533.1																																																																																				0.373	STATH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251550.1	NM_003154		46	167	46	167
CAPSL	133690	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	35910530	35910530	+	Missense_Mutation	SNP	G	G	A	rs369979397		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:35910530G>A	ENST00000397367.2	-	3	379	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CAPSL_ENST00000514524.1_Missense_Mutation_p.R85W|CAPSL_ENST00000397366.1_Missense_Mutation_p.R85W	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	85	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.		R -> Q (in dbSNP:rs1445898).			cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)	p.R85R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAACCTCCGGAAAAGTTCT	0.358																																																2	Substitution - coding silent(2)	lung(2)						G	TRP/ARG,TRP/ARG	0,4406		0,0,2203	116.0	114.0	114.0		253,253	3.3	1.0	5		114	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CAPSL	NM_001042625.1,NM_144647.3	101,101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	85/209,85/209	35910530	1,13005	2203	4300	6503	SO:0001583	missense	133690			BC017586	CCDS3912.2	5p13.2	2013-01-10			ENSG00000152611	ENSG00000152611		"""EF-hand domain containing"""	28375	protein-coding gene	gene with protein product						12477932	Standard	NM_001042625		Approved	MGC26610	uc003jju.1	Q8WWF8	OTTHUMG00000131109	ENST00000397367.2:c.253C>T	5.37:g.35910530G>A	ENSP00000380524:p.Arg85Trp			Missense_Mutation	SNP	ENST00000397367.2	37	CCDS3912.2	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338556	0.41398	0.0	1.16E-4	ENSG00000152611	ENST00000397367;ENST00000397366;ENST00000513623;ENST00000514524	T;T;T;T	0.73469	-0.75;-0.75;-0.75;-0.75	5.38	3.32	0.38043	EF-hand-like domain (1);	0.583831	0.19450	N	0.113949	D	0.82861	0.5129	M	0.91612	3.225	0.23287	N	0.997973	D	0.58620	0.983	P	0.51999	0.687	T	0.75542	-0.3281	10	0.72032	D	0.01	-2.3175	8.6219	0.33866	0.08:0.0:0.5277:0.3922	.	85	Q8WWF8	CAPSL_HUMAN	W	85	ENSP00000380524:R85W;ENSP00000380523:R85W;ENSP00000424806:R85W;ENSP00000421018:R85W	ENSP00000380523:R85W	R	-	1	2	CAPSL	35946287	0.770000	0.28543	0.998000	0.56505	0.133000	0.20885	1.073000	0.30691	0.560000	0.29169	0.462000	0.41574	CGG		0.358	CAPSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253772.2	NM_144647		18	89	18	89
SPOCK1	6695	hgsc.bcm.edu;ucsc.edu	37	5	136324179	136324179	+	Missense_Mutation	SNP	G	G	A	rs201756686	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:136324179G>A	ENST00000394945.1	-	8	1029	c.860C>T	c.(859-861)tCg>tTg	p.S287L	SPOCK1_ENST00000282223.7_Missense_Mutation_p.S287L|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	287					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCACACGAGTTGAAAAG	0.498													G|||	2	0.000399361	0.0	0.0	5008	,	,		20967	0.0		0.002	False		,,,				2504	0.0															0													173.0	167.0	169.0					5																	136324179		2203	4300	6503	SO:0001583	missense	6695			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.860C>T	5.37:g.136324179G>A	ENSP00000378401:p.Ser287Leu		B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	CCDS4191.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	29.9	5.042117	0.93685	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.62364	0.03;0.03	6.06	6.06	0.98353	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79551	0.4465	M	0.82323	2.585	0.58432	D	0.999991	D	0.71674	0.998	P	0.58331	0.837	T	0.81433	-0.0935	10	0.87932	D	0	.	19.6164	0.95636	0.0:0.0:1.0:0.0	.	287	Q08629	TICN1_HUMAN	L	287	ENSP00000378401:S287L;ENSP00000282223:S287L	ENSP00000282223:S287L	S	-	2	0	SPOCK1	136352078	1.000000	0.71417	0.971000	0.41717	0.978000	0.69477	7.858000	0.86971	2.871000	0.98454	0.655000	0.94253	TCG		0.498	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		46	139	46	139
RNF145	153830	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	158621725	158621725	+	Splice_Site	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:158621725T>C	ENST00000424310.2	-	3	651	c.292A>G	c.(292-294)Agg>Ggg	p.R98G	RNF145_ENST00000521606.2_Splice_Site_p.R115G|RNF145_ENST00000518802.1_Splice_Site_p.R128G|RNF145_ENST00000519865.1_Splice_Site_p.R98G|RNF145_ENST00000274542.2_Splice_Site_p.R126G|RNF145_ENST00000520638.1_Splice_Site_p.R112G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	98						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTACCTGGAAATTTGA	0.363																																																0													102.0	116.0	111.0					5																	158621725		2203	4300	6503	SO:0001630	splice_region_variant	153830			BC042684	CCDS4344.1, CCDS56390.1, CCDS56391.1, CCDS56392.1, CCDS56393.1	5q33.3	2013-01-09			ENSG00000145860	ENSG00000145860		"""RING-type (C3HC4) zinc fingers"""	20853	protein-coding gene	gene with protein product							Standard	NM_001199380		Approved	FLJ31951	uc003lxo.2	Q96MT1	OTTHUMG00000130306	ENST00000424310.2:c.293+1A>G	5.37:g.158621725T>C			B7Z903|B7Z949|E7EVI7|Q8IVP7	Splice_Site	SNP	ENST00000424310.2	37	CCDS56390.1	.	.	.	.	.	.	.	.	.	.	T	16.21	3.058285	0.55325	.	.	ENSG00000145860	ENST00000274542;ENST00000519865;ENST00000424310;ENST00000521606;ENST00000413445;ENST00000518802;ENST00000535312;ENST00000520638	T;T;T;T;T;T;T	0.77358	-1.09;-1.08;-1.08;-1.09;-1.09;-1.09;-1.08	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.65491	0.2696	N	0.16478	0.41	0.80722	D	1	B;B;B;B;B;B	0.12630	0.006;0.006;0.006;0.006;0.006;0.004	B;B;B;B;B;B	0.12156	0.007;0.007;0.007;0.007;0.007;0.004	T	0.60500	-0.7251	10	0.34782	T	0.22	-14.1807	15.9397	0.79745	0.0:0.0:0.0:1.0	.	114;115;112;128;98;126	E7EW26;B7Z949;B7Z903;E7EVI7;Q96MT1;Q96MT1-2	.;.;.;.;RN145_HUMAN;.	G	126;98;98;114;115;128;98;112	ENSP00000274542:R126G;ENSP00000430397:R98G;ENSP00000409064:R98G;ENSP00000430753:R114G;ENSP00000445115:R115G;ENSP00000430955:R128G;ENSP00000429071:R112G	ENSP00000274542:R126G	R	-	1	2	RNF145	158554303	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	7.546000	0.82137	2.164000	0.68074	0.529000	0.55759	AGG		0.363	RNF145-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374048.1	NM_144726	Missense_Mutation	65	155	65	155
COL19A1	1310	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	70877920	70877920	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:70877920A>G	ENST00000322773.4	+	38	2551	c.2449A>G	c.(2449-2451)Att>Gtt	p.I817V	COL19A1_ENST00000393344.1_Missense_Mutation_p.I439V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	817	Triple-helical region 4 (COL4).			GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358). {ECO:0000305}.	cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCTAAGGGTATTCCATTTAA	0.279																																																0													48.0	50.0	50.0					6																	70877920		2198	4293	6491	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2449A>G	6.37:g.70877920A>G	ENSP00000316030:p.Ile817Val		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	A	0.641	-0.813233	0.02798	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.91464	-2.85;-2.78	5.92	-0.702	0.11265	.	0.861623	0.10203	N	0.703088	T	0.56277	0.1974	N	0.02775	-0.495	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51949	-0.8640	10	0.11485	T	0.65	.	12.1394	0.53989	0.4882:0.0:0.5118:0.0	.	817	Q14993	COJA1_HUMAN	V	817;439	ENSP00000316030:I817V;ENSP00000377013:I439V	ENSP00000316030:I817V	I	+	1	0	COL19A1	70934641	0.963000	0.33076	0.145000	0.22337	0.070000	0.16714	0.169000	0.16641	-0.069000	0.12931	-0.366000	0.07423	ATT		0.279	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			15	101	15	101
PRDM1	639	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	106555167	106555167	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:106555167G>A	ENST00000369096.4	+	7	2518	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRDM1_ENST00000369089.3_Missense_Mutation_p.V628M|PRDM1_ENST00000369091.2_Missense_Mutation_p.V726M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	762					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTCTGGCCGTGGTCAGAAA	0.478			"""D, N, Mis, F, S"""		DLBCL																																		Rec	yes		6	6q21	639	"""PR domain containing 1, with ZNF domain"""		L	0													87.0	92.0	90.0					6																	106555167		2203	4300	6503	SO:0001583	missense	639				CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.2284G>A	6.37:g.106555167G>A	ENSP00000358092:p.Val762Met		B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	G	3.722	-0.057430	0.07317	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.06528	3.3;3.29;3.31	5.93	-3.17	0.05202	.	0.928117	0.09261	N	0.826540	T	0.01124	0.0037	N	0.22421	0.69	0.09310	N	1	B;B	0.17038	0.02;0.009	B;B	0.08055	0.003;0.003	T	0.47535	-0.9110	10	0.39692	T	0.17	-2.0635	4.7316	0.12968	0.4863:0.0801:0.3318:0.1018	.	628;762	Q86WM7;O75626	.;PRDM1_HUMAN	M	726;762;725;628	ENSP00000358087:V726M;ENSP00000358092:V762M;ENSP00000358085:V628M	ENSP00000358085:V628M	V	+	1	0	PRDM1	106661860	0.003000	0.15002	0.043000	0.18650	0.982000	0.71751	-0.441000	0.06879	-0.409000	0.07553	-0.244000	0.11960	GTG		0.478	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			28	63	28	63
MICAL1	64780	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	109770958	109770958	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:109770958T>C	ENST00000358807.3	-	10	1647	c.1336A>G	c.(1336-1338)Aca>Gca	p.T446A	MICAL1_ENST00000358577.3_Missense_Mutation_p.T360A|MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.T465A	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	446	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGGGATGTCTGTGACAGA	0.607																																																0													111.0	103.0	106.0					6																	109770958		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1336A>G	6.37:g.109770958T>C	ENSP00000351664:p.Thr446Ala		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	CCDS5076.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.8|22.8	4.335530|4.335530	0.81801|0.81801	.|.	.|.	ENSG00000135596|ENSG00000135596	ENST00000433205|ENST00000358807;ENST00000368952;ENST00000358577	.|T;T;T	.|0.59224	.|0.28;0.28;0.28	5.1|5.1	5.1|5.1	0.69264|0.69264	.|Calponin homology domain (1);	.|0.064498	.|0.64402	.|D	.|0.000011	T|T	0.63248|0.63248	0.2495|0.2495	M|M	0.68317|0.68317	2.08|2.08	0.44966|0.44966	D|D	0.997988|0.997988	.|B;D;D	.|0.89917	.|0.132;1.0;0.999	.|B;D;D	.|0.83275	.|0.076;0.996;0.988	T|T	0.62732|0.62732	-0.6792|-0.6792	5|10	.|0.28530	.|T	.|0.3	.|.	11.5744|11.5744	0.50854|0.50854	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|465;360;446	.|B7Z3R5;Q8TDZ2-2;Q8TDZ2	.|.;.;MICA1_HUMAN	G|A	10|446;465;360	.|ENSP00000351664:T446A;ENSP00000357948:T465A;ENSP00000351385:T360A	.|ENSP00000351385:T360A	D|T	-|-	2|1	0|0	MICAL1|MICAL1	109877651|109877651	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.845000|7.845000	0.86875|0.86875	2.047000|2.047000	0.60756|0.60756	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.607	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		17	159	17	159
FOXB2	442425	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	79635448	79635448	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:79635448C>T	ENST00000376708.1	+	1	878	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	293					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						CCCTTGGCGTCCGTCATGCAC	0.662																																																0													39.0	38.0	38.0					9																	79635448		2203	4300	6503	SO:0001583	missense	442425				CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.878C>T	9.37:g.79635448C>T	ENSP00000365898:p.Ser293Phe			Missense_Mutation	SNP	ENST00000376708.1	37	CCDS35045.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.657248	0.67586	.	.	ENSG00000204612	ENST00000376708	D	0.96940	-4.18	3.41	3.41	0.39046	.	0.081596	0.51477	D	0.000086	D	0.96716	0.8928	L	0.43923	1.385	0.48135	D	0.99959	D	0.65815	0.995	D	0.75484	0.986	D	0.97137	0.9822	10	0.87932	D	0	.	13.7467	0.62879	0.0:1.0:0.0:0.0	.	293	Q5VYV0	FOXB2_HUMAN	F	293	ENSP00000365898:S293F	ENSP00000365898:S293F	S	+	2	0	FOXB2	78825268	0.965000	0.33210	0.947000	0.38551	0.841000	0.47740	5.298000	0.65710	1.713000	0.51359	0.462000	0.41574	TCC		0.662	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1	NM_001013735		17	61	17	61
AKAP4	8852	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	49958837	49958837	+	Missense_Mutation	SNP	C	C	T	rs201625510		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:49958837C>T	ENST00000376056.2	-	5	650	c.500G>A	c.(499-501)cGt>cAt	p.R167H	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167H|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176H					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTCTAGACGTAGGTTTTG	0.443													C|||	1	0.000264901	0.0	0.0	3775	,	,		15508	0.001		0.0	False		,,,				2504	0.0															0													275.0	238.0	251.0					X																	49958837		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.500G>A	X.37:g.49958837C>T	ENSP00000365224:p.Arg167His			Missense_Mutation	SNP	ENST00000376056.2	37	CCDS14330.1	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	0.084	-1.178324	0.01633	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.43294	2.82;1.51;2.82;2.82;0.95;1.61	4.7	-1.35	0.09114	.	0.376759	0.19421	N	0.114692	T	0.19005	0.0456	N	0.11255	0.115	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.001;0.002	T	0.19353	-1.0308	9	.	.	.	-1.0483	9.0844	0.36572	0.0:0.4497:0.0:0.5503	.	176;167	Q5JQC9;A6ND82	AKAP4_HUMAN;.	H	167;167;176;167;167;167	ENSP00000365224:R167H;ENSP00000365226:R167H;ENSP00000351327:R176H;ENSP00000365232:R167H;ENSP00000402403:R167H;ENSP00000412279:R167H	.	R	-	2	0	AKAP4	49845577	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.360000	0.01084	-1.012000	0.03387	-1.854000	0.00565	CGT		0.443	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		49	62	49	62
DOPEY1	23033	broad.mit.edu;ucsc.edu	37	6	83839856	83839856	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:83839856C>T	ENST00000349129.2	+	17	2616	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*	DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q767*|DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q777*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	786					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGCATGTGCAGCCTCCACA	0.418																																																0													91.0	90.0	90.0					6																	83839856		2203	4300	6503	SO:0001587	stop_gained	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.2356C>T	6.37:g.83839856C>T	ENSP00000195654:p.Gln786*		Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Nonsense_Mutation	SNP	ENST00000349129.2	37	CCDS4996.1	.	.	.	.	.	.	.	.	.	.	C	43	9.831009	0.99275	.	.	ENSG00000083097	ENST00000349129;ENST00000237163;ENST00000369739	.	.	.	5.72	5.72	0.89469	.	0.328094	0.34628	N	0.003813	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	19.8745	0.96864	0.0:1.0:0.0:0.0	.	.	.	.	X	786;767;767	.	ENSP00000237163:Q767X	Q	+	1	0	DOPEY1	83896575	0.991000	0.36638	0.996000	0.52242	0.976000	0.68499	2.881000	0.48538	2.704000	0.92352	0.467000	0.42956	CAG		0.418	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043785.2	NM_015018		23	56	23	56
NOTCH1	4851	broad.mit.edu;ucsc.edu	37	9	139411837	139411837	+	Splice_Site	SNP	C	C	A			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:139411837C>A	ENST00000277541.6	-	9	1517	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTCGTAGCCTGTGGGGTG	0.647			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																													Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													21.0	25.0	24.0					9																	139411837		2063	4205	6268	SO:0001630	splice_region_variant	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1442-1G>T	9.37:g.139411837C>A			Q59ED8|Q5SXM3	Splice_Site	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142261	0.77775	.	.	ENSG00000148400	ENST00000277541	D	0.86769	-2.17	4.54	4.54	0.55810	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96984	0.9015	H	0.99881	4.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99323	1.0907	10	0.87932	D	0	.	16.2616	0.82550	0.0:1.0:0.0:0.0	.	481	P46531	NOTC1_HUMAN	V	481	ENSP00000277541:G481V	ENSP00000277541:G481V	G	-	2	0	NOTCH1	138531658	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.314000	0.78988	2.062000	0.61559	0.557000	0.71058	GGC		0.647	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617	Missense_Mutation	4	9	4	9
SRPK2	6733	broad.mit.edu;ucsc.edu	37	7	104782648	104782648	+	Silent	SNP	T	T	C	rs56003957	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr7:104782648T>C	ENST00000393651.3	-	11	1437	c.1350A>G	c.(1348-1350)ccA>ccG	p.P450P	SRPK2_ENST00000357311.3_Silent_p.P439P|SRPK2_ENST00000489828.1_Silent_p.P439P	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						GTCGTCCATTTGGCAATTCAC	0.443													T|||	12	0.00239617	0.0	0.0	5008	,	,		22655	0.0		0.005	False		,,,				2504	0.0072															0								T	,	8,4398	14.3+/-33.2	0,8,2195	166.0	157.0	160.0		1317,1350	5.3	1.0	7	dbSNP_129	160	59,8541	36.9+/-92.0	1,57,4242	no	coding-synonymous,coding-synonymous	SRPK2	NM_182691.1,NM_182692.1	,	1,65,6437	CC,CT,TT		0.686,0.1816,0.5151	,	439/689,450/700	104782648	67,12939	2203	4300	6503	SO:0001819	synonymous_variant	6733			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.1350A>G	7.37:g.104782648T>C				Silent	SNP	ENST00000393651.3	37	CCDS34724.1	6	0.0027472527472527475	0	0.0	0	0.0	0	0.0	6	0.0079155672823219	T	9.858	1.195517	0.22037	0.001816	0.00686	ENSG00000135250	ENST00000477925	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	T	0.64875	0.2638	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68420	-0.5413	4	.	.	.	-9.5197	15.5584	0.76219	0.0:0.0:0.0:1.0	rs56003957	.	.	.	E	46	.	.	K	-	1	0	SRPK2	104569884	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.698000	0.54771	2.138000	0.66242	0.454000	0.30748	AAA		0.443	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		23	131	23	131
TRAPPC11	60684	broad.mit.edu;ucsc.edu	37	4	184628079	184628079	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:184628079T>G	ENST00000334690.6	+	28	3377	c.3175T>G	c.(3175-3177)Tca>Gca	p.S1059A	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S1059A|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.S665A	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1059					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											CTTCATGTTCTCAGGTCTCAA	0.418																																																0													96.0	88.0	91.0					4																	184628079		2203	4300	6503	SO:0001583	missense	60684				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3175T>G	4.37:g.184628079T>G	ENSP00000335371:p.Ser1059Ala		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	T	15.75	2.925323	0.52759	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000512476	.	.	.	5.44	5.44	0.79542	.	0.149705	0.46442	D	0.000293	T	0.67477	0.2897	L	0.45470	1.425	0.58432	D	0.999997	D;D;D;D	0.69078	0.996;0.997;0.99;0.988	D;D;P;P	0.79108	0.929;0.992;0.875;0.802	T	0.62148	-0.6915	9	0.13470	T	0.59	.	15.5161	0.75826	0.0:0.0:0.0:1.0	.	790;665;1059;1059	B3KR79;D6RHE5;Q7Z392;Q7Z392-3	.;.;TPC11_HUMAN;.	A	1059;1059;665	.	ENSP00000335371:S1059A	S	+	1	0	C4orf41	184865073	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.854000	0.69503	2.062000	0.61559	0.460000	0.39030	TCA		0.418	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		8	72	8	72
LRRTM4	80059	broad.mit.edu;ucsc.edu	37	2	76975874	76975874	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:76975874T>C	ENST00000409093.1	-	4	2056	c.1720A>G	c.(1720-1722)Acc>Gcc	p.T574A	LRRTM4_ENST00000409884.1_Missense_Mutation_p.T574A|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T575A			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	574					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGGCGATGGTGGCGATGAAG	0.617																																																0													150.0	138.0	142.0					2																	76975874		1568	3582	5150	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.1720A>G	2.37:g.76975874T>C	ENSP00000386357:p.Thr574Ala		Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	ENST00000409093.1	37	CCDS46346.1	.	.	.	.	.	.	.	.	.	.	T	16.97	3.268586	0.59540	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093	T;T;T	0.57595	0.39;0.42;0.42	5.91	5.91	0.95273	.	.	.	.	.	T	0.40791	0.1131	N	0.24115	0.695	0.80722	D	1	B	0.26744	0.158	B	0.22880	0.042	T	0.34950	-0.9808	9	0.72032	D	0.01	.	14.3007	0.66346	0.0:0.0:0.0:1.0	.	574	Q86VH4	LRRT4_HUMAN	A	575;574;574	ENSP00000387228:T575A;ENSP00000387297:T574A;ENSP00000386357:T574A	ENSP00000386357:T574A	T	-	1	0	LRRTM4	76829382	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.352000	0.66028	2.259000	0.74868	0.528000	0.53228	ACC		0.617	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328225.1	NM_024993		49	169	49	169
ZW10	9183	broad.mit.edu;hgsc.bcm.edu	37	11	113614641	113614641	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113614641delT	ENST00000200135.3	-	10	1538	c.1394delA	c.(1393-1395)aatfs	p.N465fs		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	465					ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic metaphase plate congression (GO:0007080)|mitotic sister chromatid segregation (GO:0000070)|protein complex assembly (GO:0006461)|protein localization to kinetochore (GO:0034501)|protein transport (GO:0015031)|regulation of exit from mitosis (GO:0007096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|nucleus (GO:0005634)|spindle pole (GO:0000922)	centromeric DNA binding (GO:0019237)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCAATGTATTTTCAGGCTC	0.418																																																0													233.0	206.0	215.0					11																	113614641		2201	4296	6497	SO:0001589	frameshift_variant	9183			U54996	CCDS8363.1	11q23	2013-01-17	2012-12-13		ENSG00000086827	ENSG00000086827			13194	protein-coding gene	gene with protein product		603954	"""ZW10 (Drosophila) homolog, centromere/kinetochore protein"", ""ZW10, kinetochore associated, homolog (Drosophila)"""			9298984	Standard	NM_004724		Approved	KNTC1AP	uc001poe.3	O43264	OTTHUMG00000168190	ENST00000200135.3:c.1394delA	11.37:g.113614641delT	ENSP00000200135:p.Asn465fs		A1A528	Frame_Shift_Del	DEL	ENST00000200135.3	37	CCDS8363.1																																																																																				0.418	ZW10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398700.1	NM_004724		64	153	64	153
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76874329	76874330	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:76874329_76874330insT	ENST00000373344.5	-	21	5606_5607	c.5392_5393insA	c.(5392-5394)agafs	p.R1798fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1760fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1798					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTCATCACTCTGACATCTACC	0.322			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)																																								SO:0001589	frameshift_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5393dupA	X.37:g.76874330_76874330dupT	ENSP00000362441:p.Arg1798fs		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	CCDS14434.1																																																																																				0.322	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		82	52	82	52
