#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
FOLH1	2346	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	49207240	49207240	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	ENST00000256999.2	-	6	1067	c.807A>G	c.(805-807)acA>acG	p.T269T	FOLH1_ENST00000356696.3_Silent_p.T269T|FOLH1_ENST00000340334.7_Silent_p.T254T|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Silent_p.T254T	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	269					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GGTAACCTGGTGTGAGAGGGT	0.428																																																0													55.0	56.0	56.0					11																	49207240		2201	4298	6499	SO:0001819	synonymous_variant	2346			M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.807A>G	11.37:g.49207240T>C			A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Silent	SNP	ENST00000256999.2	37	CCDS7946.1																																																																																				0.428	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		14	33	14	33
OR5D14	219436	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	55563532	55563532	+	Silent	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	ENST00000335605.1	+	1	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502																																																0													190.0	189.0	189.0					11																	55563532		2200	4296	6496	SO:0001819	synonymous_variant	219436			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.501G>T	11.37:g.55563532G>T			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	ENST00000335605.1	37	CCDS31508.1																																																																																				0.502	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		37	191	37	191
APOA1	335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	11	116707048	116707048	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	ENST00000236850.4	-	4	645	c.280G>A	c.(280-282)Gag>Aag	p.E94K	APOA1_ENST00000359492.2_Missense_Mutation_p.E94K|APOA1_ENST00000375323.1_Missense_Mutation_p.E94K|APOA1_ENST00000375320.1_Missense_Mutation_p.E94K|APOA1_ENST00000375329.2_Missense_Mutation_p.E72K|AP006216.12_ENST00000444200.1_RNA	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	94	10 X approximate tandem repeats.				adrenal gland development (GO:0030325)|blood coagulation (GO:0007596)|blood vessel endothelial cell migration (GO:0043534)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endothelial cell proliferation (GO:0001935)|G-protein coupled receptor signaling pathway (GO:0007186)|glucocorticoid metabolic process (GO:0008211)|high-density lipoprotein particle assembly (GO:0034380)|high-density lipoprotein particle clearance (GO:0034384)|high-density lipoprotein particle remodeling (GO:0034375)|integrin-mediated signaling pathway (GO:0007229)|lipid storage (GO:0019915)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|negative chemotaxis (GO:0050919)|negative regulation of cell adhesion molecule production (GO:0060354)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of lipase activity (GO:0060192)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of very-low-density lipoprotein particle remodeling (GO:0010903)|organ regeneration (GO:0031100)|peptidyl-methionine modification (GO:0018206)|peripheral nervous system axon regeneration (GO:0014012)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of hydrolase activity (GO:0051345)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transferase activity (GO:0051347)|protein oxidation (GO:0018158)|protein stabilization (GO:0050821)|regulation of Cdc42 protein signal transduction (GO:0032489)|regulation of intestinal cholesterol absorption (GO:0030300)|regulation of protein phosphorylation (GO:0001932)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to nutrient (GO:0007584)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)	blood microparticle (GO:0072562)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule lumen (GO:0034774)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)|vesicle (GO:0031982)	apolipoprotein A-I receptor binding (GO:0034191)|apolipoprotein receptor binding (GO:0034190)|beta-amyloid binding (GO:0001540)|chemorepellent activity (GO:0045499)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|enzyme binding (GO:0019899)|high-density lipoprotein particle binding (GO:0008035)|high-density lipoprotein particle receptor binding (GO:0070653)|identical protein binding (GO:0042802)|lipase inhibitor activity (GO:0055102)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592																																																0													79.0	73.0	75.0					11																	116707048		2201	4292	6493	SO:0001583	missense	335			X02162	CCDS8378.1	11q23-q24	2014-09-17			ENSG00000118137	ENSG00000118137		"""Apolipoproteins"""	600	protein-coding gene	gene with protein product		107680					Standard	NM_000039		Approved		uc001ppv.1	P02647	OTTHUMG00000046112	ENST00000236850.4:c.280G>A	11.37:g.116707048C>T	ENSP00000236850:p.Glu94Lys		A8K866|Q6LDN9|Q6Q785|Q9UCS8|Q9UCT8	Missense_Mutation	SNP	ENST00000236850.4	37	CCDS8378.1	.	.	.	.	.	.	.	.	.	.	C	32	5.135570	0.94517	.	.	ENSG00000118137	ENST00000375320;ENST00000359492;ENST00000375329;ENST00000375323;ENST00000236850	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.06	4.1	0.47936	Apolipoprotein/apolipophorin (1);	0.581778	0.14977	U	0.287474	D	0.84370	0.5457	M	0.84511	2.7	0.28813	N	0.898109	P	0.40332	0.713	P	0.50791	0.65	T	0.78612	-0.2136	10	0.51188	T	0.08	-14.2384	8.8671	0.35294	0.0:0.7237:0.1907:0.0857	.	94	P02647	APOA1_HUMAN	K	94;94;72;94;94	ENSP00000364469:E94K;ENSP00000352471:E94K;ENSP00000364478:E72K;ENSP00000364472:E94K;ENSP00000236850:E94K	ENSP00000236850:E94K	E	-	1	0	APOA1	116212258	0.003000	0.15002	0.943000	0.38184	0.699000	0.40488	0.217000	0.17603	1.086000	0.41228	0.561000	0.74099	GAG		0.592	APOA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106281.2	NM_000039		23	88	23	88
IRAK3	11213	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	66638280	66638280	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	ENST00000261233.4	+	9	1323	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_ENST00000457197.2_Missense_Mutation_p.L240S	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393																																																0													104.0	96.0	99.0					12																	66638280		2203	4300	6503	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.902T>C	12.37:g.66638280T>C	ENSP00000261233:p.Leu301Ser			Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	16.67	3.187810	0.57909	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.51574	0.7;0.7	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000008	T	0.80048	0.4552	H	0.98370	4.215	0.51767	D	0.999937	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86843	0.2018	9	.	.	.	-11.6108	12.2615	0.54652	0.0:0.0:0.0:1.0	.	240;301	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	S	301;240	ENSP00000261233:L301S;ENSP00000409852:L240S	.	L	+	2	0	IRAK3	64924547	1.000000	0.71417	1.000000	0.80357	0.397000	0.30659	5.365000	0.66116	2.152000	0.67230	0.533000	0.62120	TTG		0.393	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			18	55	18	55
KERA	11081	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	91449807	91449807	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	ENST00000266719.3	-	2	499	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	84					carbohydrate metabolic process (GO:0005975)|cornea development in camera-type eye (GO:0061303)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|response to stimulus (GO:0050896)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348																																																0													118.0	112.0	114.0					12																	91449807		2202	4297	6499	SO:0001819	synonymous_variant	11081			AF063301	CCDS9037.1	12q21.3-q22	2014-09-17				ENSG00000139330		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6309	protein-coding gene	gene with protein product	"""keratocan proteoglycan"""	603288		CNA2		10565548, 10802664	Standard	NM_007035		Approved	SLRR2B	uc001tbl.3	O60938		ENST00000266719.3:c.252A>G	12.37:g.91449807T>C				Silent	SNP	ENST00000266719.3	37	CCDS9037.1																																																																																				0.348	KERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407149.2	NM_007035		13	80	13	80
TMCC3	57458	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	94975589	94975589	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	ENST00000261226.4	-	2	935	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_ENST00000551457.1_Silent_p.N237N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral component of membrane (GO:0016021)				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592																																																0													96.0	91.0	92.0					12																	94975589		2203	4300	6503	SO:0001819	synonymous_variant	57458			AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.804C>T	12.37:g.94975589G>A			Q8IWB2	Silent	SNP	ENST00000261226.4	37	CCDS31877.1																																																																																				0.592	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		24	107	24	107
ATP8A2	51761	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	26411309	26411309	+	Silent	SNP	C	C	A	rs375411072		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	ENST00000381655.2	+	29	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_ENST00000255283.8_Silent_p.T856T|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	881					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498																																																0													115.0	112.0	113.0					13																	26411309		1911	4127	6038	SO:0001819	synonymous_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2763C>A	13.37:g.26411309C>A			Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	ENST00000381655.2	37	CCDS41873.1																																																																																				0.498	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529		61	121	61	121
MYO16	23026	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	ENST00000357550.2	+	1	142	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MYO16_ENST00000251041.5_Missense_Mutation_p.R34H|MYO16_ENST00000356711.2_Missense_Mutation_p.R34H	NM_001198950.1	NP_001185879.1			myosin XVI									p.R34H(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527																																																2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|large_intestine(1)											86.0	76.0	79.0					13																	109318372		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.101G>A	13.37:g.109318372G>A	ENSP00000350160:p.Arg34His			Missense_Mutation	SNP	ENST00000357550.2	37	CCDS32008.1	.	.	.	.	.	.	.	.	.	.	G	19.28	3.796598	0.70567	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.49432	0.78;0.78;0.78	5.37	5.37	0.77165	.	0.000000	0.30979	U	0.008491	T	0.57051	0.2027	L	0.27053	0.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.982;0.997	T	0.53933	-0.8368	9	.	.	.	.	18.0975	0.89494	0.0:0.0:1.0:0.0	.	34;34	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	34	ENSP00000349145:R34H;ENSP00000350160:R34H;ENSP00000251041:R34H	.	R	+	2	0	MYO16	108116373	1.000000	0.71417	0.030000	0.17652	0.363000	0.29612	9.114000	0.94329	2.506000	0.84524	0.650000	0.86243	CGC		0.527	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		14	45	14	45
CASC5	57082	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	40914116	40914116	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	ENST00000346991.5	+	11	2122	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S552P			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	578	Interaction with BUB1 and BUB1B.				acrosome assembly (GO:0001675)|attachment of spindle microtubules to kinetochore (GO:0008608)|CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|nucleosome assembly (GO:0006334)|protein localization to kinetochore (GO:0034501)|spindle assembly checkpoint (GO:0071173)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358																																																0													68.0	63.0	65.0					15																	40914116		1868	4110	5978	SO:0001583	missense	57082			AF173994	CCDS42023.1, CCDS42024.1	15q14	2013-07-03			ENSG00000137812	ENSG00000137812		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	24054	protein-coding gene	gene with protein product	"""cancer/testis antigen 29"", ""kinetochore null 1 homolog (C. elegans)"", ""blinkin, bub-linking kinetochore protein"", ""protein phosphatase 1, regulatory subunit 55"""	609173				10980622, 10780384, 18045986	Standard	NM_170589		Approved	D40, AF15Q14, CT29, hKNL-1, KNL1, hSpc105, PPP1R55, Spc7	uc010bbt.1	Q8NG31	OTTHUMG00000166532	ENST00000346991.5:c.1732T>C	15.37:g.40914116T>C	ENSP00000335463:p.Ser578Pro		Q8NHE1|Q8WXA6|Q9HCK2|Q9NR92	Missense_Mutation	SNP	ENST00000346991.5	37	CCDS42023.1	.	.	.	.	.	.	.	.	.	.	T	6.702	0.498107	0.12762	.	.	ENSG00000137812	ENST00000346991;ENST00000260369;ENST00000399668	T;T	0.17691	2.26;2.26	5.03	-2.87	0.05700	.	1.876320	0.02553	N	0.095811	T	0.08133	0.0203	N	0.11927	0.2	0.09310	N	1	P;B;B	0.38420	0.63;0.399;0.399	B;B;B	0.31495	0.131;0.092;0.092	T	0.14504	-1.0470	10	0.52906	T	0.07	.	4.001	0.09580	0.3394:0.0:0.3803:0.2803	.	552;578;552	Q8NG31-2;Q8NG31;Q8NG31-4	.;CASC5_HUMAN;.	P	578;552;552	ENSP00000335463:S578P;ENSP00000382576:S552P	ENSP00000260369:S552P	S	+	1	0	CASC5	38701408	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	0.106000	0.15354	-0.787000	0.04510	-0.472000	0.04984	TCA		0.358	CASC5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390224.2	NM_144508		10	50	10	50
TUBGCP4	27229	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	43695930	43695930	+	Missense_Mutation	SNP	C	C	T	rs149549954	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	ENST00000260383.7	+	16	2038	c.1784C>T	c.(1783-1785)tCg>tTg	p.S595L	TUBGCP4_ENST00000564079.1_Missense_Mutation_p.S594L|TUBGCP4_ENST00000399460.3_3'UTR			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	595					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		20217	0.0		0.0	False		,,,				2504	0.0															0								C	LEU/SER	15,3879		0,15,1932	83.0	81.0	81.0		1781	3.6	0.9	15	dbSNP_134	81	0,8298		0,0,4149	yes	missense	TUBGCP4	NM_014444.2	145	0,15,6081	TT,TC,CC		0.0,0.3852,0.123	benign	594/667	43695930	15,12177	1947	4149	6096	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1784C>T	15.37:g.43695930C>T	ENSP00000260383:p.Ser595Leu		B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	13.74	2.327703	0.41197	0.003852	0.0	ENSG00000137822	ENST00000260383	.	.	.	5.51	3.56	0.40772	.	0.114577	0.64402	N	0.000008	T	0.22322	0.0538	N	0.11427	0.14	0.80722	D	1	P;B	0.35348	0.496;0.417	B;B	0.26864	0.034;0.074	T	0.04796	-1.0926	9	0.16420	T	0.52	-1.8871	10.4462	0.44495	0.0:0.8346:0.0:0.1654	.	595;594	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	L	594	.	ENSP00000260383:S594L	S	+	2	0	TUBGCP4	41483222	0.999000	0.42202	0.862000	0.33874	0.997000	0.91878	4.041000	0.57339	0.734000	0.32515	0.655000	0.94253	TCG		0.527	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444		23	21	23	21
AP4E1	23431	hgsc.bcm.edu;broad.mit.edu	37	15	51260560	51260560	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	ENST00000261842.5	+	15	2058	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_ENST00000560508.1_Missense_Mutation_p.L576R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	651					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	coated pit (GO:0005905)|Golgi apparatus (GO:0005794)|membrane coat (GO:0030117)				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373																																																0													42.0	39.0	40.0					15																	51260560		2196	4294	6490	SO:0001583	missense	23431			AB030653	CCDS32240.1, CCDS58362.1	15q21.2	2014-09-17			ENSG00000081014	ENSG00000081014			573	protein-coding gene	gene with protein product		607244				10436028, 21620353	Standard	NM_007347		Approved	AP-4-EPSILON, SPG51	uc001zyx.2	Q9UPM8	OTTHUMG00000172458	ENST00000261842.5:c.1952T>G	15.37:g.51260560T>G	ENSP00000261842:p.Leu651Arg		A0AVD6|A1L4A9|A6NNX7|H0YKX4|Q68D31|Q9Y588	Missense_Mutation	SNP	ENST00000261842.5	37	CCDS32240.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.583530	0.65992	.	.	ENSG00000081014	ENST00000261842	T	0.13901	2.55	4.85	4.85	0.62838	Armadillo-type fold (1);	0.073753	0.56097	D	0.000028	T	0.28896	0.0717	M	0.73598	2.24	0.58432	D	0.999997	D	0.61697	0.99	P	0.57101	0.813	T	0.09037	-1.0693	10	0.17832	T	0.49	-11.5957	13.636	0.62223	0.0:0.0:0.0:1.0	.	651	Q9UPM8	AP4E1_HUMAN	R	651	ENSP00000261842:L651R	ENSP00000261842:L651R	L	+	2	0	AP4E1	49047852	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	6.707000	0.74654	1.808000	0.52836	0.460000	0.39030	CTT		0.373	AP4E1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418656.1			6	15	6	15
ACSM1	116285	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	20635526	20635526	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	ENST00000307493.4	-	12	1606	c.1539C>T	c.(1537-1539)gcC>gcT	p.A513A	ACSM1_ENST00000219151.4_Silent_p.A164A|ACSM1_ENST00000520010.1_Silent_p.A513A	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	513					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473																																																0													144.0	118.0	126.0					16																	20635526		2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.1539C>T	16.37:g.20635526G>A			Q08AH2|Q96A20	Silent	SNP	ENST00000307493.4	37	CCDS10587.1	.	.	.	.	.	.	.	.	.	.	g	0.079	-1.188019	0.01607	.	.	ENSG00000166743	ENST00000524149	.	.	.	3.92	-7.84	0.01196	.	.	.	.	.	T	0.36908	0.0984	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40776	-0.9545	4	.	.	.	.	3.2152	0.06696	0.1921:0.3001:0.3873:0.1205	.	.	.	.	L	185	.	.	P	-	2	0	ACSM1	20543027	0.000000	0.05858	0.216000	0.23742	0.011000	0.07611	-6.600000	0.00060	-2.528000	0.00493	-0.347000	0.07816	CCT		0.473	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254412.1	NM_052956		22	79	22	79
DNAH2	146754	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	7643864	7643864	+	Silent	SNP	C	C	T	rs374548181		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	ENST00000572933.1	+	10	2963	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_ENST00000389173.2_Silent_p.R501R|DNAH2_ENST00000570791.1_Silent_p.R583R|DNAH2_ENST00000082259.3_Silent_p.R583R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672																																																0								C		0,4404		0,0,2202	63.0	57.0	59.0		1503	-5.6	0.4	17		59	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	DNAH2	NM_020877.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		501/4428	7643864	1,13001	2202	4299	6501	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1503C>T	17.37:g.7643864C>T			A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	CCDS32551.1																																																																																				0.672	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		20	129	20	129
DNAJC7	7266	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	40140910	40140910	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	ENST00000457167.4	-	8	994	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_ENST00000316603.7_Missense_Mutation_p.A197V|DNAJC7_ENST00000426588.3_Missense_Mutation_p.A197V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	253					chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423																																					Colon(63;618 1117 8600 10857 19751)											0													107.0	99.0	102.0					17																	40140910		1872	4117	5989	SO:0001583	missense	7266			U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.758C>T	17.37:g.40140910G>A	ENSP00000406463:p.Ala253Val		Q7Z784	Missense_Mutation	SNP	ENST00000457167.4	37	CCDS45677.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096682	0.76870	.	.	ENSG00000168259	ENST00000457167;ENST00000426588;ENST00000316603	T;T;T	0.75821	1.34;-0.97;-0.97	5.41	5.41	0.78517	Elongated TPR repeat-containing domain (1);Tetratricopeptide repeat-containing (1);	1.268200	0.05002	N	0.469255	T	0.76744	0.4030	L	0.31804	0.96	0.80722	D	1	B;P;P	0.51240	0.226;0.943;0.768	B;P;B	0.53722	0.177;0.733;0.263	T	0.65635	-0.6120	10	0.06625	T	0.88	0.0015	19.1913	0.93667	0.0:0.0:1.0:0.0	.	242;197;253	Q59EH7;Q7Z784;Q99615	.;.;DNJC7_HUMAN	V	253;197;197	ENSP00000406463:A253V;ENSP00000394327:A197V;ENSP00000313311:A197V	ENSP00000313311:A197V	A	-	2	0	DNAJC7	37394436	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.527000	0.85204	0.561000	0.74099	GCC		0.423	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			51	96	51	96
CSHL1	1444	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	61987091	61987091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	ENST00000309894.5	-	5	648	c.649G>A	c.(649-651)Gag>Aag	p.E217K	CSHL1_ENST00000259003.10_Missense_Mutation_p.E155K|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000438387.2_Missense_Mutation_p.E134K|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E123K	NM_022579.1	NP_072101.1	Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	217						extracellular region (GO:0005576)	hormone activity (GO:0005179)|metal ion binding (GO:0046872)			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632																																																0													90.0	84.0	86.0					17																	61987091		2203	4300	6503	SO:0001583	missense	1444			BC029365	CCDS11652.1, CCDS42370.1, CCDS45759.1	17q22-q24	2012-10-02							2442	protein-coding gene	gene with protein product	"""chorionic somatomammotropin CS-5"""	603515		CSHP1		8083227	Standard	NM_001318		Approved	hCS-L, CSL, CS-5, MGC149868	uc002jda.1	Q14406		ENST00000309894.5:c.649G>A	17.37:g.61987091C>T	ENSP00000309524:p.Glu217Lys		D3DU26|D3DU27|Q0VDB2	Missense_Mutation	SNP	ENST00000309894.5	37	CCDS11652.1	.	.	.	.	.	.	.	.	.	.	c	12.51	1.960625	0.34565	.	.	ENSG00000204414	ENST00000309894;ENST00000438387;ENST00000259003;ENST00000346606	D;D;D	0.88354	-2.37;-2.37;-2.37	3.6	3.6	0.41247	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	18.707400	0.00166	N	0.000001	D	0.94288	0.8165	H	0.94222	3.51	0.80722	D	1	B;B;B;B	0.25272	0.1;0.1;0.122;0.046	B;B;B;B	0.33339	0.045;0.1;0.162;0.069	T	0.81879	-0.0730	10	0.72032	D	0.01	.	14.1399	0.65313	0.0:1.0:0.0:0.0	.	123;134;217;194	Q14406-4;Q14406-3;Q14406;Q14406-2	.;.;CSHL_HUMAN;.	K	217;134;212;123	ENSP00000309524:E217K;ENSP00000402632:E134K;ENSP00000316360:E123K	ENSP00000259003:E212K	E	-	1	0	GH1	59340823	1.000000	0.71417	0.715000	0.30552	0.112000	0.19704	3.433000	0.52834	1.730000	0.51580	0.305000	0.20034	GAG		0.632	CSHL1-009	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444557.1	NM_022579		42	73	42	73
LGALS3BP	3959	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	76967757	76967757	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	ENST00000262776.3	-	6	1967	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	553					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.S553S(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)											1	Substitution - coding silent(1)	lung(1)											65.0	60.0	61.0					17																	76967757		2203	4300	6503	SO:0001819	synonymous_variant	3959			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1659G>A	17.37:g.76967757C>T		1172	Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	CCDS11759.1																																																																																				0.612	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		25	55	25	55
LAMA3	3909	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	21489195	21489195	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	ENST00000313654.9	+	55	7335	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_ENST00000269217.6_Missense_Mutation_p.N756S|LAMA3_ENST00000587184.1_Missense_Mutation_p.N700S|LAMA3_ENST00000399516.3_Missense_Mutation_p.N2309S|LAMA3_ENST00000588770.1_3'UTR	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2365	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					CCCTTGGGAAACATCTCTGAC	0.453																																																0													137.0	118.0	124.0					18																	21489195		2203	4300	6503	SO:0001583	missense	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.7094A>G	18.37:g.21489195A>G	ENSP00000324532:p.Asn2365Ser		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.098845	0.76870	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	T;T;T	0.37411	1.2;1.2;1.2	5.6	5.6	0.85130	Laminin II (1);	.	.	.	.	T	0.53642	0.1809	L	0.60845	1.875	0.53005	D	0.999963	D;D;D;D	0.69078	0.982;0.982;0.997;0.992	P;P;D;P	0.66196	0.665;0.665;0.942;0.832	T	0.47522	-0.9111	9	0.26408	T	0.33	.	15.7745	0.78204	1.0:0.0:0.0:0.0	.	700;756;2309;2365	Q6VU69;B0YJ33;Q6VU67;Q16787	.;.;.;LAMA3_HUMAN	S	2365;2309;756	ENSP00000324532:N2365S;ENSP00000382432:N2309S;ENSP00000269217:N756S	ENSP00000269217:N756S	N	+	2	0	LAMA3	19743193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.449000	0.80643	2.121000	0.65114	0.533000	0.62120	AAC		0.453	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		13	73	13	73
TRAPPC8	22878	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	18	29433858	29433858	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:29433858G>C	ENST00000283351.4	-	22	3722	c.3387C>G	c.(3385-3387)agC>agG	p.S1129R	TRAPPC8_ENST00000582539.1_Missense_Mutation_p.S1075R	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	1129					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTGTTTGCTACTACTTG	0.328																																																0													119.0	118.0	118.0					18																	29433858		2202	4299	6501	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.3387C>G	18.37:g.29433858G>C	ENSP00000283351:p.Ser1129Arg		A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	ENST00000283351.4	37	CCDS11901.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531212	0.27387	.	.	ENSG00000153339	ENST00000283351	T	0.17691	2.26	5.25	4.37	0.52481	.	0.000000	0.85682	D	0.000000	T	0.38081	0.1027	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.10177	-1.0641	10	0.37606	T	0.19	-8.8204	9.6938	0.40145	0.1604:0.0:0.8396:0.0	.	1129	Q9Y2L5	TPPC8_HUMAN	R	1129	ENSP00000283351:S1129R	ENSP00000283351:S1129R	S	-	3	2	TRAPPC8	27687856	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.393000	0.44442	1.213000	0.43380	0.563000	0.77884	AGC		0.328	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255355.1	NM_014939		10	42	10	42
S1PR2	9294	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	10334891	10334891	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	ENST00000590320.1	-	2	801	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L	CTD-2369P2.2_ENST00000317726.4_lincRNA	NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	231					activation of MAPK activity (GO:0000187)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of endothelial barrier (GO:1903142)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|integrin binding (GO:0005178)|lipid binding (GO:0008289)|sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617																																					Pancreas(194;229 3020 15179 45747)											0													78.0	64.0	69.0					19																	10334891		2203	4300	6503	SO:0001819	synonymous_variant	9294			AF034780	CCDS12229.1	19q13	2013-03-13	2008-04-30	2008-04-30	ENSG00000267534	ENSG00000267534		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	3169	protein-coding gene	gene with protein product		605111	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 5"""	EDG5		8087418, 8878560	Standard	NM_004230		Approved	Gpcr13, H218, AGR16	uc002mnl.2	O95136	OTTHUMG00000180399	ENST00000590320.1:c.691C>T	19.37:g.10334891G>A			Q86UN8	Silent	SNP	ENST00000590320.1	37	CCDS12229.1																																																																																				0.617	S1PR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451194.1	NM_004230		15	36	15	36
ZNF585B	92285	hgsc.bcm.edu;broad.mit.edu	37	19	37676803	37676803	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	ENST00000532828.2	-	5	1887	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ZNF585B_ENST00000312908.5_Missense_Mutation_p.G134R|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G491R|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383																																					Melanoma(93;882 1454 18863 28917 48427)											0													63.0	65.0	64.0					19																	37676803		2203	4300	6503	SO:0001583	missense	92285			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.1636G>A	19.37:g.37676803C>T	ENSP00000433773:p.Gly546Arg		Q8IZD3|Q96JW6	Missense_Mutation	SNP	ENST00000532828.2	37	CCDS12500.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724086	0.48728	.	.	ENSG00000245680	ENST00000531805;ENST00000532828;ENST00000312908	T;T;T	0.26223	1.75;1.75;1.75	2.45	2.45	0.29901	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002450	T	0.43299	0.1241	M	0.63428	1.95	0.39917	D	0.974109	D;D	0.89917	0.998;1.0	P;D	0.74348	0.907;0.983	T	0.45498	-0.9257	10	0.66056	D	0.02	.	10.137	0.42712	0.0:1.0:0.0:0.0	.	491;546	E9PQH3;Q52M93	.;Z585B_HUMAN	R	491;546;134	ENSP00000436774:G491R;ENSP00000433773:G546R;ENSP00000442139:G134R	ENSP00000442139:G134R	G	-	1	0	ZNF585B	42368643	0.409000	0.25368	0.931000	0.37212	0.805000	0.45488	2.888000	0.48594	1.376000	0.46267	0.298000	0.19748	GGA		0.383	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388272.2	NM_152279		18	109	18	109
FCGBP	8857	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T	rs367948062		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	ENST00000221347.6	-	28	12998	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4331						extracellular vesicular exosome (GO:0070062)		p.A4331T(1)		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)			GCCTGGCAGGCGGCCACGTAG	0.647																																																1	Substitution - Missense(1)	upper_aerodigestive_tract(1)						C	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	183.0	192.0	189.0		12991	3.0	0.8	19		189	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCGBP	NM_003890.2	58	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	4331/5406	40368357	4,13002	2203	4300	6503	SO:0001583	missense	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.12991G>A	19.37:g.40368357C>T	ENSP00000221347:p.Ala4331Thr		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	7.760	0.705270	0.15172	6.81E-4	1.16E-4	ENSG00000090920	ENST00000221347	T	0.78481	-1.18	4.08	3.0	0.34707	Uncharacterised domain, cysteine-rich (2);	0.495083	0.18716	U	0.133148	T	0.66237	0.2769	M	0.72624	2.21	0.20074	N	0.999938	P	0.39250	0.665	B	0.26864	0.074	T	0.59679	-0.7409	10	0.36615	T	0.2	.	4.2383	0.10637	0.0:0.6005:0.2058:0.1937	.	4331	Q9Y6R7	FCGBP_HUMAN	T	4331	ENSP00000221347:A4331T	ENSP00000221347:A4331T	A	-	1	0	FCGBP	45060197	0.000000	0.05858	0.755000	0.31263	0.082000	0.17680	-0.081000	0.11321	1.027000	0.39758	0.305000	0.20034	GCC		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		32	293	32	293
AJAP1	55966	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	4832380	4832380	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	ENST00000378191.4	+	4	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_ENST00000378190.3_Missense_Mutation_p.R320W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	320	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607																																																0													84.0	71.0	75.0					1																	4832380		2203	4300	6503	SO:0001583	missense	55966			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.958C>T	1.37:g.4832380C>T	ENSP00000367433:p.Arg320Trp		Q9Y229	Missense_Mutation	SNP	ENST00000378191.4	37	CCDS54.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.436714	0.83885	.	.	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.57107	0.42;0.42	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.58264	0.2110	N	0.24115	0.695	0.53005	D	0.999967	D	0.89917	1.0	D	0.91635	0.999	T	0.62623	-0.6815	10	0.87932	D	0	-27.951	12.255	0.54619	0.1701:0.8299:0.0:0.0	.	320	Q9UKB5	AJAP1_HUMAN	W	320	ENSP00000367432:R320W;ENSP00000367433:R320W	ENSP00000367432:R320W	R	+	1	2	AJAP1	4732240	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.934000	0.40163	2.380000	0.81148	0.561000	0.74099	CGG		0.607	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		11	69	11	69
CLSTN1	22883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	9794036	9794036	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	ENST00000377298.4	-	15	3067	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_ENST00000477264.1_5'Flank|CLSTN1_ENST00000361311.4_Missense_Mutation_p.F749V|CLSTN1_ENST00000377288.3_Missense_Mutation_p.F740V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	759					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612																																																0													96.0	77.0	83.0					1																	9794036		2203	4300	6503	SO:0001583	missense	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2275T>G	1.37:g.9794036A>C	ENSP00000366513:p.Phe759Val		A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	13.68	2.310477	0.40895	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.28069	1.63;1.63;1.63;1.63	5.13	1.33	0.21861	.	0.269632	0.41294	D	0.000914	T	0.08626	0.0214	N	0.01352	-0.895	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.001	T	0.10382	-1.0632	10	0.35671	T	0.21	-19.6771	3.7602	0.08601	0.405:0.0:0.3097:0.2853	.	740;749;759	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	V	759;749;560;740;740	ENSP00000366513:F759V;ENSP00000354997:F749V;ENSP00000401934:F560V;ENSP00000366502:F740V	ENSP00000354997:F749V	F	-	1	0	CLSTN1	9716623	1.000000	0.71417	0.580000	0.28601	0.995000	0.86356	2.073000	0.41519	0.320000	0.23234	0.533000	0.62120	TTC		0.612	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			19	97	19	97
SPRR2G	6706	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	153122438	153122438	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	ENST00000368748.4	-	2	187	c.149C>T	c.(148-150)cCa>cTa	p.P50L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	50					epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567																																																0													179.0	140.0	153.0					1																	153122438		2203	4300	6503	SO:0001583	missense	6706			AF333957	CCDS30868.1	1q21-q22	2008-02-05			ENSG00000159516	ENSG00000159516			11267	protein-coding gene	gene with protein product						8325635, 11279051	Standard	NM_001014291		Approved		uc009wod.2	Q9BYE4	OTTHUMG00000014399	ENST00000368748.4:c.149C>T	1.37:g.153122438G>A	ENSP00000357737:p.Pro50Leu			Missense_Mutation	SNP	ENST00000368748.4	37	CCDS30868.1	.	.	.	.	.	.	.	.	.	.	G	7.840	0.721799	0.15372	.	.	ENSG00000159516	ENST00000368748	T	0.31247	1.5	4.66	-9.32	0.00643	.	.	.	.	.	T	0.05731	0.0150	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33471	-0.9867	8	0.87932	D	0	25.1383	4.4194	0.11472	0.0936:0.2525:0.5194:0.1346	.	50	Q9BYE4	SPR2G_HUMAN	L	50	ENSP00000357737:P50L	ENSP00000357737:P50L	P	-	2	0	SPRR2G	151389062	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.259000	0.00536	-2.376000	0.00598	-0.407000	0.06327	CCA		0.567	SPRR2G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040057.1			23	120	23	120
CD244	51744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	160811431	160811431	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	ENST00000368033.3	-	2	404	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_ENST00000368034.4_Nonsense_Mutation_p.E108*|CD244_ENST00000322302.7_Nonsense_Mutation_p.E108*|CD244_ENST00000368032.2_Nonsense_Mutation_p.E108*|CD244_ENST00000481677.1_5'Flank			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	108	Ig-like 1.				blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453																																																0													64.0	64.0	64.0					1																	160811431		2203	4300	6503	SO:0001587	stop_gained	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.322G>T	1.37:g.160811431C>A	ENSP00000357012:p.Glu108*		Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Nonsense_Mutation	SNP	ENST00000368033.3	37	CCDS53399.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.047740	0.55110	.	.	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302;ENST00000368032	.	.	.	4.36	4.36	0.52297	.	0.432742	0.22529	N	0.058861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	0.1287	12.6039	0.56513	0.0:1.0:0.0:0.0	.	.	.	.	X	108	.	ENSP00000313619:E108X	E	-	1	0	CD244	159078055	0.057000	0.20700	0.027000	0.17364	0.028000	0.11728	1.099000	0.31013	2.431000	0.82371	0.655000	0.94253	GAG		0.453	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071469.1	NM_016382		26	102	26	102
RXRG	6258	hgsc.bcm.edu;broad.mit.edu	37	1	165398112	165398112	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	ENST00000359842.5	-	2	443	c.141T>G	c.(139-141)gaT>gaG	p.D47E		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	47	Modulating. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TCACTGGGGTATCTGTGTAGC	0.607																																																0													64.0	59.0	61.0					1																	165398112		2203	4300	6503	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.141T>G	1.37:g.165398112A>C	ENSP00000352900:p.Asp47Glu		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	A	4.258	0.046833	0.08243	.	.	ENSG00000143171	ENST00000359842	D	0.91577	-2.87	4.71	-0.855	0.10700	.	0.115539	0.38720	N	0.001597	T	0.33731	0.0873	N	0.00538	-1.39	0.27197	N	0.960272	B	0.02656	0.0	B	0.06405	0.002	T	0.41413	-0.9510	9	0.02654	T	1	.	1.3609	0.02191	0.368:0.1792:0.3277:0.1251	.	47	P48443	RXRG_HUMAN	E	47	ENSP00000352900:D47E	ENSP00000352900:D47E	D	-	3	2	RXRG	163664736	0.997000	0.39634	0.958000	0.39756	0.964000	0.63967	0.209000	0.17435	-0.020000	0.14032	-1.017000	0.02453	GAT		0.607	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2	NM_006917		5	66	5	66
SELE	6401	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	169697059	169697059	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	ENST00000333360.7	-	9	1428	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	SELE_ENST00000367780.4_Missense_Mutation_p.C305Y|SELE_ENST00000367777.1_Intron|SELE_ENST00000367775.1_Missense_Mutation_p.C305Y|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C367Y|SELE_ENST00000367774.1_Intron|SELE_ENST00000367781.4_Missense_Mutation_p.C367Y|SELE_ENST00000367782.4_Intron|SELE_ENST00000367779.4_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	430	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	GACAGCATCGCATCTCACAGC	0.498																																																0													75.0	72.0	73.0					1																	169697059		2203	4300	6503	SO:0001583	missense	6401			M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.1289G>A	1.37:g.169697059C>T	ENSP00000331736:p.Cys430Tyr		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233449	0.79688	.	.	ENSG00000007908	ENST00000367781;ENST00000367780;ENST00000333360;ENST00000367775;ENST00000367776	D;D;D;D;D	0.99784	-6.74;-6.74;-6.74;-6.74;-6.74	5.9	5.9	0.94986	Complement control module (2);Sushi/SCR/CCP (2);	0.000000	0.46442	D	0.000281	D	0.99910	0.9957	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.96374	0.9276	10	0.87932	D	0	-17.3043	18.8428	0.92190	0.0:1.0:0.0:0.0	.	430	P16581	LYAM2_HUMAN	Y	367;305;430;305;367	ENSP00000356755:C367Y;ENSP00000356754:C305Y;ENSP00000331736:C430Y;ENSP00000356749:C305Y;ENSP00000356750:C367Y	ENSP00000331736:C430Y	C	-	2	0	SELE	167963683	1.000000	0.71417	0.647000	0.29507	0.262000	0.26303	6.623000	0.74238	2.788000	0.95919	0.650000	0.86243	TGC		0.498	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		34	137	34	137
EDEM3	80267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	184695449	184695449	+	Silent	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	ENST00000318130.8	-	7	953	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_ENST00000367512.3_Silent_p.A186A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	229					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388																																																0													103.0	101.0	102.0					1																	184695449		2203	4300	6503	SO:0001819	synonymous_variant	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.687A>G	1.37:g.184695449T>C			B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	ENST00000318130.8	37	CCDS1363.2																																																																																				0.388	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085785.3	NM_025191		15	61	15	61
GPR137B	7107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	236341829	236341829	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	ENST00000366592.3	+	3	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478																																																0													254.0	220.0	232.0					1																	236341829		2203	4300	6503	SO:0001587	stop_gained	7107			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.580C>T	1.37:g.236341829C>T	ENSP00000355551:p.Arg194*		Q53EK7|Q5TAE6|Q6FHI3	Nonsense_Mutation	SNP	ENST00000366592.3	37	CCDS1609.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911997	0.92178	.	.	ENSG00000077585	ENST00000366592;ENST00000391852	.	.	.	5.7	4.77	0.60923	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.9123	13.1936	0.59726	0.4241:0.5759:0.0:0.0	.	.	.	.	X	194;193	.	ENSP00000355551:R194X	R	+	1	2	GPR137B	234408452	1.000000	0.71417	0.999000	0.59377	0.945000	0.59286	1.853000	0.39358	1.344000	0.45657	0.561000	0.74099	CGA		0.478	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092761.1	NM_003272		58	180	58	180
RYR2	6262	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	237804239	237804239	+	Missense_Mutation	SNP	C	C	G	rs376057173		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	ENST00000366574.2	+	47	7475	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2384K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2370K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1). {ECO:0000269|PubMed:11159936, ECO:0000269|PubMed:12106942}.		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)			ACATGGGGAACGCGATCATGA	0.443																																																0													192.0	185.0	187.0					1																	237804239		2093	4243	6336	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.7158C>G	1.37:g.237804239C>G	ENSP00000355533:p.Asn2386Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.325116	0.60634	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97752	-4.52;-4.52;-4.52	5.6	-0.99	0.10238	.	0.072903	0.52532	D	0.000063	D	0.95357	0.8493	M	0.68952	2.095	0.80722	D	1	P	0.46621	0.881	B	0.40825	0.341	D	0.90883	0.4755	10	0.32370	T	0.25	-26.242	11.1538	0.48476	0.0:0.21:0.0:0.79	.	2386	Q92736	RYR2_HUMAN	K	2386;2384;2370	ENSP00000355533:N2386K;ENSP00000353174:N2384K;ENSP00000443798:N2370K	ENSP00000353174:N2384K	N	+	3	2	RYR2	235870862	0.528000	0.26314	0.988000	0.46212	0.989000	0.77384	-0.293000	0.08320	-0.328000	0.08539	-0.229000	0.12294	AAC		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		8	50	8	50
BCL11A	53335	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	60679728	60679728	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	ENST00000359629.5	-	5	1000	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	BCL11A_ENST00000538214.1_Missense_Mutation_p.R785Q|BCL11A_ENST00000537768.1_Silent_p.S437S|BCL11A_ENST00000356842.4_Silent_p.S768S	NM_138559.1	NP_612569.1	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557			T	IGH@	B-CLL																																		Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													85.0	91.0	89.0					2																	60679728		2203	4300	6503	SO:0001583	missense	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000359629.5:c.704G>A	2.37:g.60679728C>T	ENSP00000352648:p.Arg235Gln		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Missense_Mutation	SNP	ENST00000359629.5	37	CCDS46295.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416731	0.25552	.	.	ENSG00000119866	ENST00000359629;ENST00000538214	T	0.06068	3.35	5.92	3.1	0.35709	.	.	.	.	.	T	0.03477	0.0100	.	.	.	0.80722	D	1	B;B	0.14012	0.0;0.009	B;B	0.04013	0.0;0.001	T	0.43523	-0.9386	8	0.18276	T	0.48	.	3.5732	0.07925	0.0:0.5143:0.1997:0.286	.	785;235	F5H2Y4;Q9H165-3	.;.	Q	235;785	ENSP00000438303:R785Q	ENSP00000352648:R235Q	R	-	2	0	BCL11A	60533232	0.999000	0.42202	1.000000	0.80357	0.999000	0.98932	0.346000	0.19997	0.807000	0.34208	0.650000	0.86243	CGA		0.557	BCL11A-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325349.2	NM_022893		38	119	38	119
RND3	390	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	151326607	151326607	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	ENST00000375734.2	-	5	878	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_ENST00000472416.1_5'Flank|RND3_ENST00000409557.1_Missense_Mutation_p.S81L|RND3_ENST00000263895.4_Missense_Mutation_p.S210L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	210					actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458																																																0													183.0	169.0	174.0					2																	151326607		2203	4300	6503	SO:0001583	missense	390				CCDS2190.1	2q23.3	2008-02-05	2005-01-24	2005-01-27	ENSG00000115963	ENSG00000115963			671	protein-coding gene	gene with protein product		602924	"""ras homolog gene family, member E"""	ARHE		8649376	Standard	NM_001254738		Approved	RhoE, Rho8	uc002txe.3	P61587	OTTHUMG00000131859	ENST00000375734.2:c.629C>T	2.37:g.151326607G>A	ENSP00000364886:p.Ser210Leu		D3DP95|P52199	Missense_Mutation	SNP	ENST00000375734.2	37	CCDS2190.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315582	0.60524	.	.	ENSG00000115963	ENST00000375734;ENST00000263895;ENST00000409557	T;T;T	0.68181	-0.31;-0.31;2.4	5.81	5.81	0.92471	.	0.425883	0.24419	N	0.038690	T	0.66790	0.2825	L	0.58101	1.795	0.58432	D	0.999992	B;B;B	0.30146	0.001;0.27;0.27	B;B;B	0.30179	0.009;0.112;0.112	T	0.65401	-0.6177	10	0.52906	T	0.07	-4.1957	19.0713	0.93138	0.0:0.0:1.0:0.0	.	73;209;210	B4DSG7;D3DP96;P61587	.;.;RND3_HUMAN	L	210;210;81	ENSP00000364886:S210L;ENSP00000263895:S210L;ENSP00000386576:S81L	ENSP00000263895:S210L	S	-	2	0	RND3	151034853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.623000	0.74238	2.751000	0.94390	0.650000	0.86243	TCA		0.458	RND3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254809.1	NM_005168		34	125	34	125
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	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.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		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.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	74	18	74
BSN	8927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	ENST00000296452.4	+	5	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1508					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622																																																0													71.0	78.0	76.0					3																	49691512		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.4523C>T	3.37:g.49691512C>T	ENSP00000296452:p.Thr1508Met		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534027	0.64972	.	.	ENSG00000164061	ENST00000296452	T	0.23950	1.88	5.25	5.25	0.73442	.	0.243845	0.41500	D	0.000878	T	0.51024	0.1650	M	0.62723	1.935	0.54753	D	0.999984	D	0.89917	1.0	D	0.87578	0.998	T	0.52823	-0.8524	10	0.87932	D	0	.	18.8314	0.92141	0.0:1.0:0.0:0.0	.	1508	Q9UPA5	BSN_HUMAN	M	1508	ENSP00000296452:T1508M	ENSP00000296452:T1508M	T	+	2	0	BSN	49666516	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.487000	0.81328	2.466000	0.83321	0.462000	0.41574	ACG		0.622	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		11	72	11	72
BSN	8927	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	49694614	49694614	+	Missense_Mutation	SNP	C	C	T	rs187902453		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	ENST00000296452.4	+	5	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2542					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		20244	0.0		0.001	False		,,,				2504	0.0															0								C	MET/THR	0,4406		0,0,2203	43.0	42.0	42.0		7625	5.6	0.9	3		42	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BSN	NM_003458.3	81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	2542/3927	49694614	1,13005	2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.7625C>T	3.37:g.49694614C>T	ENSP00000296452:p.Thr2542Met		O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.942	0.543645	0.13250	0.0	1.16E-4	ENSG00000164061	ENST00000296452	T	0.19250	2.16	5.58	5.58	0.84498	.	0.114424	0.64402	D	0.000019	T	0.37293	0.0998	L	0.53249	1.67	0.37777	D	0.926899	D	0.71674	0.998	P	0.59487	0.858	T	0.25363	-1.0134	10	0.72032	D	0.01	-16.1283	13.8113	0.63266	0.0:0.9249:0.0:0.0751	.	2542	Q9UPA5	BSN_HUMAN	M	2542	ENSP00000296452:T2542M	ENSP00000296452:T2542M	T	+	2	0	BSN	49669618	0.036000	0.19791	0.854000	0.33618	0.828000	0.46876	0.369000	0.20416	2.640000	0.89533	0.561000	0.74099	ACG		0.632	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		14	41	14	41
CACNA2D3	55799	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	54596855	54596855	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	ENST00000474759.1	+	6	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.W191C|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.W191C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.W97C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	191						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GGGTTTATTGGTCTGAATCTC	0.403																																																0													88.0	81.0	83.0					3																	54596855		1839	4088	5927	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.573G>T	3.37:g.54596855G>T	ENSP00000419101:p.Trp191Cys		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	ENST00000474759.1	37	CCDS54598.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516110	0.85495	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000492460;ENST00000398624;ENST00000438476	T;T;T;T;T	0.57273	2.54;2.54;2.54;2.57;0.41	5.82	5.82	0.92795	VWA N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.77512	0.4141	M	0.86953	2.85	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.80464	-0.1371	10	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	191	Q8IZS8	CA2D3_HUMAN	C	191;191;191;97;97;97;96	ENSP00000389506:W191C;ENSP00000419101:W191C;ENSP00000288197:W191C;ENSP00000417279:W97C;ENSP00000418028:W97C	ENSP00000288197:W191C	W	+	3	0	CACNA2D3	54571895	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.614000	0.98353	2.767000	0.95098	0.655000	0.94253	TGG		0.403	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351402.1			10	40	10	40
SEL1L3	23231	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	25849135	25849135	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	ENST00000399878.3	-	2	636	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.I137V|SEL1L3_ENST00000502949.1_Missense_Mutation_p.I19V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	172						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408																																																0													75.0	69.0	71.0					4																	25849135		1908	4135	6043	SO:0001583	missense	23231			BC009945	CCDS47037.1, CCDS75113.1	4p15.2	2009-09-24			ENSG00000091490	ENSG00000091490			29108	protein-coding gene	gene with protein product	"""KIAA0746 protein"""					9872452	Standard	XM_005248143		Approved	KIAA0746	uc003gru.4	Q68CR1	OTTHUMG00000160331	ENST00000399878.3:c.514A>G	4.37:g.25849135T>C	ENSP00000382767:p.Ile172Val		A0PJH6|A8K0X2|O94847|Q6P999|Q96G59	Missense_Mutation	SNP	ENST00000399878.3	37	CCDS47037.1	.	.	.	.	.	.	.	.	.	.	T	8.171	0.791723	0.16258	.	.	ENSG00000091490	ENST00000399878;ENST00000264868;ENST00000502949;ENST00000510880;ENST00000513691;ENST00000514872	T;T;T	0.15834	2.39;2.39;2.39	5.4	-1.24	0.09435	.	0.518363	0.23146	N	0.051401	T	0.09512	0.0234	L	0.38531	1.155	0.27365	N	0.955841	B	0.09022	0.002	B	0.06405	0.002	T	0.34551	-0.9824	10	0.16420	T	0.52	-2.3651	5.3377	0.15967	0.1286:0.3512:0.0:0.5201	.	172	Q68CR1	SE1L3_HUMAN	V	172;137;19;19;19;19	ENSP00000382767:I172V;ENSP00000264868:I137V;ENSP00000425438:I19V	ENSP00000264868:I137V	I	-	1	0	SEL1L3	25458233	1.000000	0.71417	0.214000	0.23707	0.951000	0.60555	0.424000	0.21330	-0.437000	0.07243	0.454000	0.30748	ATA		0.408	SEL1L3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360261.1	NM_015187		9	73	9	73
SHROOM3	57619	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	77661578	77661578	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	ENST00000296043.6	+	5	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	751					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692																																																0													13.0	17.0	16.0					4																	77661578		2181	4275	6456	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.2252C>T	4.37:g.77661578C>T	ENSP00000296043:p.Pro751Leu		Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	c	13.66	2.304359	0.40795	.	.	ENSG00000138771	ENST00000296043	T	0.29397	1.57	5.51	-3.64	0.04515	.	1.598650	0.03507	N	0.219053	T	0.21761	0.0524	L	0.34521	1.04	0.09310	N	1	P;B;B	0.35155	0.487;0.154;0.089	B;B;B	0.16289	0.015;0.012;0.007	T	0.40997	-0.9533	10	0.51188	T	0.08	-4.1286	14.0101	0.64490	0.265:0.6611:0.0739:0.0	.	575;751;529	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	L	751	ENSP00000296043:P751L	ENSP00000296043:P751L	P	+	2	0	SHROOM3	77880602	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	-0.332000	0.07904	-0.211000	0.10124	0.558000	0.71614	CCG		0.692	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		5	33	5	33
FRAS1	80144	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	79400621	79400621	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	ENST00000264895.6	+	56	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2727	Calx-beta 2.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463																																																0													67.0	67.0	67.0					4																	79400621		2020	4196	6216	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.8192T>G	4.37:g.79400621T>G	ENSP00000264895:p.Phe2731Cys		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000264895.6	37	CCDS54771.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.51|12.51	1.961106|1.961106	0.34565|0.34565	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.36699|.	1.24|.	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	0.116106|0.116106	0.64402|0.64402	D|N	0.000010|0.000010	T|T	0.80276|0.80276	0.4593|0.4593	M|M	0.86502|0.86502	2.82|2.82	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.67900|.	0.954|.	T|T	0.82969|0.82969	-0.0193|-0.0193	10|6	0.87932|.	D|.	0|.	.|.	16.3505|16.3505	0.83204|0.83204	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	2731|.	E9PHH6|.	.|.	C|L	2731|959	ENSP00000264895:F2731C|.	ENSP00000264895:F2731C|.	F|F	+|+	2|3	0|2	FRAS1|FRAS1	79619645|79619645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.189000|0.189000	0.23516|0.23516	4.644000|4.644000	0.61397|0.61397	2.319000|2.319000	0.78375|0.78375	0.524000|0.524000	0.50904|0.50904	TTT|TTT		0.463	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				15	41	15	41
USP53	54532	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	120214081	120214081	+	Missense_Mutation	SNP	T	T	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	ENST00000274030.6	+	19	4116	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_ENST00000450251.1_Missense_Mutation_p.D979E	NM_019050.2	NP_061923.2			ubiquitin specific peptidase 53											breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393																																																0													95.0	89.0	91.0					4																	120214081		1922	4135	6057	SO:0001583	missense	54532			BC017382	CCDS43265.1	4q26	2010-05-12	2005-08-08		ENSG00000145390	ENSG00000145390		"""Ubiquitin-specific peptidases"""	29255	protein-coding gene	gene with protein product			"""ubiquitin specific protease 53"""			10718198, 14715245	Standard	NM_019050		Approved	KIAA1350	uc003ics.4	Q70EK8	OTTHUMG00000161331	ENST00000274030.6:c.2937T>A	4.37:g.120214081T>A	ENSP00000274030:p.Asp979Glu			Missense_Mutation	SNP	ENST00000274030.6	37	CCDS43265.1	.	.	.	.	.	.	.	.	.	.	T	6.979	0.550601	0.13374	.	.	ENSG00000145390	ENST00000274030;ENST00000450251	T;T	0.39056	1.1;1.1	4.82	-2.96	0.05547	.	0.647232	0.14818	N	0.296664	T	0.16385	0.0394	L	0.28274	0.84	0.21105	N	0.99979	B	0.02656	0.0	B	0.04013	0.001	T	0.28427	-1.0044	10	0.02654	T	1	-5.7495	0.2136	0.00159	0.2248:0.1874:0.2506:0.3371	.	979	Q70EK8	UBP53_HUMAN	E	979	ENSP00000274030:D979E;ENSP00000409906:D979E	ENSP00000274030:D979E	D	+	3	2	USP53	120433529	0.706000	0.27856	0.144000	0.22314	0.776000	0.43924	-0.065000	0.11617	-0.200000	0.10300	0.477000	0.44152	GAT		0.393	USP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364564.2	XM_052597		9	50	9	50
PRDM5	11107	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	121698363	121698363	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	ENST00000264808.3	-	13	1757	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_ENST00000515109.1_Missense_Mutation_p.V475G|PRDM5_ENST00000428209.2_Missense_Mutation_p.V475G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	506					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383																																																0													151.0	138.0	142.0					4																	121698363		2203	4300	6503	SO:0001583	missense	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.1517T>G	4.37:g.121698363A>C	ENSP00000264808:p.Val506Gly		Q0VAI9|Q0VAJ0|Q6NXQ7	Missense_Mutation	SNP	ENST00000264808.3	37	CCDS3716.1	.	.	.	.	.	.	.	.	.	.	A	18.80	3.701503	0.68501	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	T;T;T	0.29397	2.21;1.57;2.21	5.36	5.36	0.76844	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	N	0.16743	0.435	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.998	T	0.21075	-1.0256	10	0.25751	T	0.34	-16.1714	15.365	0.74513	1.0:0.0:0.0:0.0	.	475;475;506	Q0VAI9;Q9NQX1-2;Q9NQX1	.;.;PRDM5_HUMAN	G	506;475;475	ENSP00000264808:V506G;ENSP00000422309:V475G;ENSP00000404832:V475G	ENSP00000264808:V506G	V	-	2	0	PRDM5	121917813	1.000000	0.71417	0.311000	0.25182	0.840000	0.47671	8.990000	0.93510	2.032000	0.59987	0.533000	0.62120	GTT		0.383	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256528.2			35	155	35	155
GMDS	2762	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	1726688	1726688	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	ENST00000380815.4	-	9	1218	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_ENST00000530927.1_Missense_Mutation_p.V287M	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	317					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507																																																0													264.0	227.0	240.0					6																	1726688		2203	4300	6503	SO:0001583	missense	2762			AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.949G>A	6.37:g.1726688C>T	ENSP00000370194:p.Val317Met		E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	37	CCDS4474.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.113952	0.77210	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	.	.	.	5.45	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.81959	0.4933	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.85345	0.1098	9	0.66056	D	0.02	-0.8027	14.6095	0.68507	0.0:0.9285:0.0:0.0715	.	317	O60547	GMDS_HUMAN	M	287;317	.	ENSP00000370194:V317M	V	-	1	0	GMDS	1671687	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	5.062000	0.64326	2.573000	0.86826	0.563000	0.77884	GTG		0.507	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3			37	194	37	194
GPR116	221395	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	46826760	46826760	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	ENST00000283296.7	-	17	3168	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_ENST00000545669.1_Silent_p.R389R|GPR116_ENST00000265417.7_Silent_p.R960R|GPR116_ENST00000456426.2_Silent_p.R818R|GPR116_ENST00000362015.4_Silent_p.R960R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	960	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478																																					NSCLC(59;410 1274 8751 36715 50546)											0													100.0	88.0	92.0					6																	46826760		2203	4300	6503	SO:0001819	synonymous_variant	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.2880G>A	6.37:g.46826760C>T			O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	CCDS4919.1																																																																																				0.478	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		16	114	16	114
NT5E	4907	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	86203685	86203685	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	ENST00000257770.3	+	9	1737	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_ENST00000369651.3_Missense_Mutation_p.L513P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	563					adenosine biosynthetic process (GO:0046086)|AMP catabolic process (GO:0006196)|dephosphorylation (GO:0016311)|DNA metabolic process (GO:0006259)|negative regulation of inflammatory response (GO:0050728)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Cytarabine(DB00987)|Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353																																					Melanoma(140;797 1765 2035 2752 18208)											0													72.0	76.0	75.0					6																	86203685		2203	4300	6503	SO:0001583	missense	4907			X55740	CCDS5002.1, CCDS56439.1	6q14-q21	2013-08-28	2002-04-18	2002-04-19	ENSG00000135318	ENSG00000135318	3.1.3.5	"""CD molecules"""	8021	protein-coding gene	gene with protein product		129190	"""5' nucleotidase (CD73)"""	NT5			Standard	NM_002526		Approved	CD73, eN, eNT, CALJA	uc003pko.4	P21589	OTTHUMG00000015139	ENST00000257770.3:c.1688T>C	6.37:g.86203685T>C	ENSP00000257770:p.Leu563Pro		B3KQI8|O75520|Q5W116	Missense_Mutation	SNP	ENST00000257770.3	37	CCDS5002.1	.	.	.	.	.	.	.	.	.	.	T	8.560	0.877633	0.17395	.	.	ENSG00000135318	ENST00000257770;ENST00000369651	T;T	0.58358	0.44;0.34	5.79	5.79	0.91817	.	0.189294	0.47093	D	0.000249	T	0.32164	0.0820	L	0.56769	1.78	0.80722	D	1	B;B	0.27351	0.176;0.176	B;B	0.19391	0.025;0.025	T	0.43589	-0.9382	10	0.72032	D	0.01	-13.1395	8.4951	0.33123	0.0:0.0693:0.132:0.7987	.	513;563	B3KQI8;P21589	.;5NTD_HUMAN	P	563;513	ENSP00000257770:L563P;ENSP00000358665:L513P	ENSP00000257770:L563P	L	+	2	0	NT5E	86260404	0.991000	0.36638	0.883000	0.34634	0.118000	0.20060	2.444000	0.44890	2.218000	0.71995	0.533000	0.62120	CTT		0.353	NT5E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041388.1			14	103	14	103
RNGTT	8732	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	89563379	89563379	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	ENST00000369485.4	-	9	1187	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_ENST00000538899.1_Missense_Mutation_p.R274H|RNGTT_ENST00000265607.6_Missense_Mutation_p.R334H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R334H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	334	GTase.|Interaction with POLR2A. {ECO:0000250}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289																																																0													95.0	94.0	94.0					6																	89563379		2202	4297	6499	SO:0001583	missense	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1001G>A	6.37:g.89563379C>T	ENSP00000358497:p.Arg334His		E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Missense_Mutation	SNP	ENST00000369485.4	37	CCDS5017.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178865	0.38511	.	.	ENSG00000111880	ENST00000369485;ENST00000265607;ENST00000538899;ENST00000536746;ENST00000369475	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.29	4.4	0.53042	mRNA capping enzyme (1);	0.210160	0.50627	D	0.000116	T	0.61451	0.2348	N	0.24115	0.695	0.46149	D	0.998894	B;B;B;B	0.14438	0.003;0.01;0.003;0.005	B;B;B;B	0.11329	0.003;0.006;0.002;0.004	T	0.61633	-0.7023	10	0.39692	T	0.17	-12.2932	8.9359	0.35700	0.1495:0.7761:0.0:0.0744	.	274;334;334;334	B4DSJ8;Q5TCW7;O60942-2;O60942	.;.;.;MCE1_HUMAN	H	334;334;274;305;334	ENSP00000358497:R334H;ENSP00000265607:R334H;ENSP00000442609:R274H;ENSP00000358487:R334H	ENSP00000265607:R334H	R	-	2	0	RNGTT	89620098	0.985000	0.35326	0.758000	0.31321	0.826000	0.46750	2.594000	0.46189	1.334000	0.45468	0.552000	0.68991	CGT		0.289	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041469.1			13	108	13	108
TMEM200A	114801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	130761742	130761742	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	ENST00000296978.3	+	3	1046	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_ENST00000545622.1_Missense_Mutation_p.S59P|TMEM200A_ENST00000392429.1_Missense_Mutation_p.S59P	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	59						integral component of membrane (GO:0016021)				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478																																																0													126.0	126.0	126.0					6																	130761742		2203	4300	6503	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.175T>C	6.37:g.130761742T>C	ENSP00000296978:p.Ser59Pro		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	T	19.33	3.806301	0.70682	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	M	0.73217	2.22	0.58432	D	0.999999	D	0.76494	0.999	D	0.87578	0.998	T	0.78071	-0.2347	9	0.87932	D	0	.	15.5161	0.75826	0.0:0.0:0.0:1.0	.	59	Q86VY9	T200A_HUMAN	P	59	.	ENSP00000296978:S59P	S	+	1	0	TMEM200A	130803435	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.095000	0.71439	2.056000	0.61249	0.528000	0.53228	TCC		0.478	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		61	93	61	93
FOXP2	93986	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	114282537	114282537	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	ENST00000393494.2	+	7	1127	c.848G>A	c.(847-849)gGc>gAc	p.G283D	FOXP2_ENST00000378237.3_Missense_Mutation_p.G283D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G307D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G262D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G283D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G308D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393500.3_Missense_Mutation_p.G208D|FOXP2_ENST00000403559.4_Missense_Mutation_p.G300D			O15409	FOXP2_HUMAN	forkhead box P2	283					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428																																																0													206.0	183.0	191.0					7																	114282537		2203	4300	6503	SO:0001583	missense	93986			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.848G>A	7.37:g.114282537G>A	ENSP00000377132:p.Gly283Asp		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	17.06	3.292946	0.60086	.	.	ENSG00000128573	ENST00000393500;ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000393489;ENST00000360232;ENST00000393495;ENST00000390668;ENST00000393491	T;T;T;T;T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;1.24;0.99;0.99;0.99;0.99	4.86	2.99	0.34606	.	0.145318	0.64402	D	0.000007	T	0.49236	0.1545	L	0.37630	1.12	0.58432	D	0.999999	B;B;B;D;B;B;B	0.76494	0.001;0.001;0.0;0.999;0.003;0.001;0.001	B;B;B;D;B;B;B	0.71414	0.001;0.001;0.001;0.973;0.003;0.001;0.002	T	0.35301	-0.9794	10	0.40728	T	0.16	.	10.1939	0.43043	0.0752:0.1369:0.7879:0.0	.	282;300;191;283;307;283;308	B7ZLK5;B4DLD9;Q0PRL4;O15409-6;Q8N6B5;O15409;O15409-4	.;.;.;.;.;FOXP2_HUMAN;.	D	208;283;308;300;283;260;283;191;283;140;307;191	ENSP00000377137:G208D;ENSP00000377132:G283D;ENSP00000386200:G308D;ENSP00000385069:G300D;ENSP00000265436:G283D;ENSP00000367482:G283D;ENSP00000377129:G191D;ENSP00000353367:G283D;ENSP00000375084:G307D;ENSP00000377130:G191D	ENSP00000265436:G283D	G	+	2	0	FOXP2	114069773	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	7.540000	0.82074	0.534000	0.28695	-0.384000	0.06662	GGC		0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		35	61	35	61
WNT2	7472	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis (GO:0055009)|canonical Wnt signaling pathway (GO:0060070)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|iris morphogenesis (GO:0061072)|labyrinthine layer blood vessel development (GO:0060716)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|lung induction (GO:0060492)|mammary gland epithelium development (GO:0061180)|neuron differentiation (GO:0030182)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597																																																0													54.0	45.0	48.0					7																	116960776		2203	4300	6503	SO:0001583	missense	7472			X07876	CCDS5771.1	7q31	2013-02-28			ENSG00000105989	ENSG00000105989		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12780	protein-coding gene	gene with protein product	"""secreted growth factor"""	147870		INT1L1		2971536	Standard	NM_003391		Approved	IRP	uc003viz.3	P09544	OTTHUMG00000023428	ENST00000265441.3:c.155G>A	7.37:g.116960776C>T	ENSP00000265441:p.Arg52Gln		A4D0V1|Q75N05|Q9UDP9	Missense_Mutation	SNP	ENST00000265441.3	37	CCDS5771.1	.	.	.	.	.	.	.	.	.	.	C	35	5.542970	0.96474	.	.	ENSG00000105989	ENST00000265441;ENST00000491214	T;T	0.76448	-1.02;-1.02	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.87748	0.6255	M	0.76433	2.335	0.58432	D	0.999999	D	0.89917	1.0	D	0.76575	0.988	D	0.86304	0.1682	10	0.38643	T	0.18	.	18.5879	0.91197	0.0:1.0:0.0:0.0	.	52	P09544	WNT2_HUMAN	Q	52	ENSP00000265441:R52Q;ENSP00000419466:R52Q	ENSP00000265441:R52Q	R	-	2	0	WNT2	116748012	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.419000	0.80179	2.691000	0.91804	0.655000	0.94253	CGG		0.597	WNT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059749.3	NM_003391		10	37	10	37
AKR1B10	57016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	134212705	134212705	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	ENST00000359579.4	+	1	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	14					cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502																																																0													129.0	116.0	121.0					7																	134212705		2203	4300	6503	SO:0001819	synonymous_variant	57016			AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.42C>T	7.37:g.134212705C>T			A4D1P1|O75890|Q6FHF3|Q8IWZ1	Silent	SNP	ENST00000359579.4	37	CCDS5832.1																																																																																				0.502	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339615.1	NM_020299		19	97	19	97
POLR3D	661	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	22107627	22107627	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	ENST00000397802.4	+	7	1176	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_ENST00000306433.4_Missense_Mutation_p.L321M			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	321					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGCTGACCTGACAGAGGG	0.542																																																0													84.0	80.0	82.0					8																	22107627		2203	4300	6503	SO:0001583	missense	661			M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.961C>A	8.37:g.22107627C>A	ENSP00000380904:p.Leu321Met		Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Missense_Mutation	SNP	ENST00000397802.4	37	CCDS34858.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118931	0.56505	.	.	ENSG00000168495	ENST00000306433;ENST00000397802	.	.	.	5.41	3.61	0.41365	.	0.069554	0.64402	D	0.000014	T	0.67571	0.2907	M	0.69248	2.105	0.50313	D	0.99986	D	0.69078	0.997	D	0.68621	0.959	T	0.63871	-0.6539	9	0.35671	T	0.21	-15.51	6.8571	0.24046	0.0:0.697:0.1442:0.1588	.	321	P05423	RPC4_HUMAN	M	321	.	ENSP00000303088:L321M	L	+	1	2	POLR3D	22163572	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	1.603000	0.36794	0.641000	0.30601	0.561000	0.74099	CTG		0.542	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		36	59	36	59
DOCK5	80005	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	25154057	25154057	+	Missense_Mutation	SNP	G	G	C	rs374015497		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	ENST00000276440.7	+	7	543	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_ENST00000481100.1_Missense_Mutation_p.D167H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	167					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512																																					Pancreas(145;34 1887 3271 10937 30165)											0								G	HIS/ASP	0,4406		0,0,2203	120.0	98.0	105.0		499	5.7	1.0	8		105	1,8599	1.2+/-3.3	0,1,4299	no	missense	DOCK5	NM_024940.6	81	0,1,6502	CC,CG,GG		0.0116,0.0,0.0077	probably-damaging	167/1871	25154057	1,13005	2203	4300	6503	SO:0001583	missense	80005				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.499G>C	8.37:g.25154057G>C	ENSP00000276440:p.Asp167His		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	ENST00000276440.7	37	CCDS6047.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243106	0.79912	0.0	1.16E-4	ENSG00000147459	ENST00000481100;ENST00000276440	T;T	0.48201	0.82;0.82	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.74481	0.3722	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.77619	-0.2520	10	0.87932	D	0	.	19.9142	0.97043	0.0:0.0:1.0:0.0	.	167	Q9H7D0	DOCK5_HUMAN	H	167	ENSP00000429737:D167H;ENSP00000276440:D167H	ENSP00000276440:D167H	D	+	1	0	DOCK5	25209974	1.000000	0.71417	0.990000	0.47175	0.376000	0.30014	9.156000	0.94705	2.941000	0.99782	0.655000	0.94253	GAT		0.512	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		4	20	4	20
NRG1	3084	hgsc.bcm.edu;ucsc.edu	37	8	32600199	32600199	+	Intron	SNP	A	A	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:32600199A>T	ENST00000405005.3	+	7	700				NRG1_ENST00000519301.1_Silent_p.P158P|NRG1_ENST00000520502.2_Silent_p.P268P|NRG1_ENST00000341377.5_Missense_Mutation_p.Q236L|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523079.1_Silent_p.P213P|NRG1_ENST00000287842.3_Silent_p.P213P|NRG1_ENST00000287845.5_Silent_p.P179P|NRG1_ENST00000520407.1_Silent_p.P394P|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000356819.4_Silent_p.P213P|NRG1_ENST00000539990.1_Silent_p.P59P			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCAGGTGCCCAAATGAGTTTA	0.423																																																0													169.0	154.0	159.0					8																	32600199		2203	4300	6503	SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.700+606A>T	8.37:g.32600199A>T			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Missense_Mutation	SNP	ENST00000405005.3	37	CCDS6085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.627|9.627	1.135418|1.135418	0.21123|0.21123	.|.	.|.	ENSG00000157168|ENSG00000157168	ENST00000518206|ENST00000341377;ENST00000523041	.|T	.|0.78481	.|-1.18	6.03|6.03	3.61|3.61	0.41365|0.41365	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72985	.|0.3529	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.46512	.|0.879	.|B	.|0.40375	.|0.327	.|T	.|0.73043	.|-0.4107	.|8	.|0.62326	.|D	.|0.03	.|.	13.2324|13.2324	0.59951|0.59951	0.7497:0.2503:0.0:0.0|0.7497:0.2503:0.0:0.0	.|.	.|236	.|Q02297-4	.|.	X|L	115|236;185	.|ENSP00000340497:Q236L	.|ENSP00000340497:Q236L	K|Q	+|+	1|2	0|0	NRG1|NRG1	32719741|32719741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.389000|3.389000	0.52516|0.52516	0.498000|0.498000	0.27948|0.27948	-0.313000|-0.313000	0.08912|0.08912	AAA|CAA		0.423	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			39	205	39	205
ANK1	286	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	ENST00000347528.4	-	36	4453	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000396942.1_Missense_Mutation_p.R1457H	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.R1457H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522																																																1	Substitution - Missense(1)	ovary(1)						C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	154.0	110.0	125.0		4370,4493,4370,4370,4370	5.5	0.3	8	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	29,29,29,29,29	0,4,6499	TT,TC,CC		0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	1457/1881,1498/1898,1457/1857,1457/1882,1457/1720	41543690	4,13002	2203	4300	6503	SO:0001583	missense	286			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.4370G>A	8.37:g.41543690C>T	ENSP00000339620:p.Arg1457His		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.443909	0.83993	4.54E-4	2.33E-4	ENSG00000029534	ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	D;D;D;D;D;D;D	0.86865	-2.18;-2.18;-2.18;-2.18;-2.18;-2.18;-2.18	5.49	5.49	0.81192	Death (3);DEATH-like (2);	0.059384	0.64402	D	0.000004	D	0.93314	0.7869	M	0.80847	2.515	0.80722	D	1	P;D;D;P;P;D	0.63880	0.917;0.985;0.958;0.933;0.68;0.993	P;P;P;P;P;D	0.63597	0.723;0.849;0.849;0.552;0.723;0.916	D	0.93865	0.7157	10	0.72032	D	0.01	.	18.3408	0.90304	0.0:1.0:0.0:0.0	.	1498;1457;1457;1457;1457;773	P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.;.;ANK1_HUMAN;.;.;.	H	1457;1457;1457;1457;1457;1457;1498;1457	ENSP00000339620:R1457H;ENSP00000289734:R1457H;ENSP00000369082:R1457H;ENSP00000380149:R1457H;ENSP00000380147:R1457H;ENSP00000309131:R1457H;ENSP00000265709:R1498H	ENSP00000265709:R1498H	R	-	2	0	ANK1	41662847	1.000000	0.71417	0.303000	0.25071	0.461000	0.32589	4.440000	0.59975	2.573000	0.86826	0.655000	0.94253	CGT		0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		29	81	29	81
CLVS1	157807	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	62371030	62371030	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	ENST00000519846.1	+	6	1378	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_ENST00000518592.1_Silent_p.S23S|CLVS1_ENST00000325897.4_Silent_p.S302S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	302					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502																																																0													90.0	76.0	81.0					8																	62371030		2203	4300	6503	SO:0001819	synonymous_variant	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.906C>T	8.37:g.62371030C>T			B2R7M5|C8UZT3|Q8NB32	Silent	SNP	ENST00000519846.1	37	CCDS6176.1																																																																																				0.502	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378323.1	NM_173519		24	55	24	55
COL5A1	1289	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	9	137591840	137591840	+	Silent	SNP	C	C	T	rs369180922		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19502	0.001		0.0	False		,,,				2504	0.0															0								C		0,4406		0,0,2203	91.0	91.0	91.0		363	-7.5	0.9	9		91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	COL5A1	NM_000093.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		121/1839	137591840	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.363C>T	9.37:g.137591840C>T			Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	CCDS6982.1																																																																																				0.587	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		29	131	29	131
GYG2	8908	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	2799186	2799186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	ENST00000381163.3	+	12	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.R444C|GYG2_ENST00000398806.3_Missense_Mutation_p.R449C|GYG2_ENST00000542787.1_Missense_Mutation_p.R409C	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	480					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	glycogenin glucosyltransferase activity (GO:0008466)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGAAGGCCGTATCGACTA	0.572																																																0													161.0	97.0	119.0					X																	2799186		2203	4297	6500	SO:0001583	missense	8908			U94361	CCDS14121.1, CCDS48074.1	Xp22.3	2013-02-22			ENSG00000056998	ENSG00000056998	2.4.1.186	"""Glycosyltransferase family 8 domain containing"""	4700	protein-coding gene	gene with protein product	"""glycogenin glucosyltransferase"""	300198				9857012	Standard	NM_001079855		Approved	GN-2	uc004cqs.1	O15488	OTTHUMG00000021079	ENST00000381163.3:c.1438C>T	X.37:g.2799186C>T	ENSP00000370555:p.Arg480Cys		B7WNN6|O15485|O15486|O15487|O15489|O15490	Missense_Mutation	SNP	ENST00000381163.3	37	CCDS14121.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709985	0.30322	.	.	ENSG00000056998	ENST00000398806;ENST00000381163;ENST00000338623;ENST00000542787	T;T;T;T	0.46063	0.88;1.2;1.19;1.21	3.94	3.07	0.35406	.	0.754711	0.12072	N	0.502200	T	0.49338	0.1551	L	0.29908	0.895	0.09310	N	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;1.0	P;D;P;D;D;D	0.74023	0.901;0.975;0.832;0.962;0.982;0.94	T	0.32534	-0.9903	10	0.87932	D	0	.	8.4852	0.33067	0.0:0.8832:0.0:0.1168	.	444;409;440;449;449;480	O15488-6;O15488-4;O15488-3;A8K8Y1;O15488-2;O15488	.;.;.;.;.;GLYG2_HUMAN	C	449;480;444;409	ENSP00000381786:R449C;ENSP00000370555:R480C;ENSP00000341273:R444C;ENSP00000446092:R409C	ENSP00000341273:R444C	R	+	1	0	GYG2	2809186	0.010000	0.17322	0.001000	0.08648	0.071000	0.16799	3.167000	0.50793	0.548000	0.28955	0.540000	0.68198	CGT		0.572	GYG2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055645.1	NM_003918		7	32	7	32
PRPS2	5634	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	12838861	12838861	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	ENST00000380668.5	+	6	931	c.803C>T	c.(802-804)gCt>gTt	p.A268V	PRPS2_ENST00000398491.2_Missense_Mutation_p.A271V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	268					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483																																																0													109.0	89.0	96.0					X																	12838861		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.803C>T	X.37:g.12838861C>T	ENSP00000370043:p.Ala268Val		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	ENST00000380668.5	37	CCDS14150.1	.	.	.	.	.	.	.	.	.	.	C	15.08	2.726098	0.48833	.	.	ENSG00000101911	ENST00000380668;ENST00000398491;ENST00000461630;ENST00000460220	T;T;T	0.72167	-0.63;-0.63;-0.63	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.81240	0.4781	M	0.88105	2.93	0.80722	D	1	P;P	0.51449	0.797;0.945	B;P	0.48921	0.391;0.595	D	0.86073	0.1539	10	0.66056	D	0.02	-13.406	17.5895	0.87992	0.0:1.0:0.0:0.0	.	268;271	P11908;P11908-2	PRPS2_HUMAN;.	V	268;271;123;100	ENSP00000370043:A268V;ENSP00000381504:A271V;ENSP00000418911:A123V	ENSP00000370043:A268V	A	+	2	0	PRPS2	12748782	1.000000	0.71417	0.948000	0.38648	0.977000	0.68977	7.332000	0.79203	2.169000	0.68431	0.468000	0.43344	GCT		0.483	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055772.2	NM_002765		19	76	19	76
RS1	6247	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	18660177	18660177	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	ENST00000379984.3	-	6	662	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	208	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657																																																0													60.0	55.0	57.0					X																	18660177		2203	4300	6503	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.622G>A	X.37:g.18660177C>T	ENSP00000369320:p.Val208Ile		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.122812	0.77436	.	.	ENSG00000102104	ENST00000379984	D	0.98862	-5.19	5.63	5.63	0.86233	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.104953	0.64402	D	0.000003	D	0.97337	0.9129	L	0.33668	1.02	0.40901	D	0.984153	D	0.58620	0.983	P	0.48189	0.57	D	0.97450	1.0027	10	0.34782	T	0.22	.	18.6736	0.91521	0.0:1.0:0.0:0.0	.	208	O15537	XLRS1_HUMAN	I	208	ENSP00000369320:V208I	ENSP00000369320:V208I	V	-	1	0	RS1	18570098	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	3.786000	0.55431	2.353000	0.79882	0.594000	0.82650	GTC		0.657	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			28	70	28	70
POLA1	5422	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	24830876	24830876	+	Silent	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	ENST00000379059.3	+	29	3189	c.3174G>A	c.(3172-3174)ctG>ctA	p.L1058L	POLA1_ENST00000379068.3_Silent_p.L1064L	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1058					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	ACGCTGCTCTGGTTGTTGAGC	0.393																																																0													107.0	101.0	103.0					X																	24830876		2203	4300	6503	SO:0001819	synonymous_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3174G>A	X.37:g.24830876G>A			Q86UQ7	Silent	SNP	ENST00000379059.3	37	CCDS14214.1																																																																																				0.393	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000056111.1	NM_016937		24	50	24	50
FAM47B	170062	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	34962025	34962025	+	Silent	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	ENST00000329357.5	+	1	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	359								p.D359D(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGAAGACGCACGGGCTC	0.537																																																1	Substitution - coding silent(1)	large_intestine(1)											44.0	42.0	43.0					X																	34962025		2202	4300	6502	SO:0001819	synonymous_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1077C>T	X.37:g.34962025C>T			Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.537	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		21	60	21	60
FAM120C	54954	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	54209051	54209051	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	ENST00000375180.2	-	1	637	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_ENST00000497680.1_5'UTR|FAM120C_ENST00000477084.1_Missense_Mutation_p.A194V|FAM120C_ENST00000328235.4_Missense_Mutation_p.A194V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	194							poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721																																																0													28.0	20.0	23.0					X																	54209051		2185	4282	6467	SO:0001583	missense	54954			AY150025	CCDS14356.1, CCDS55421.1, CCDS75987.1	Xp11.22	2011-04-13	2006-07-04	2006-07-04	ENSG00000184083	ENSG00000184083			16949	protein-coding gene	gene with protein product		300741	"""chromosome X open reading frame 17"""	CXorf17		14585507	Standard	XM_006724589		Approved	ORF34, FLJ20506	uc004dsz.4	Q9NX05	OTTHUMG00000021625	ENST00000375180.2:c.581C>T	X.37:g.54209051G>A	ENSP00000364324:p.Ala194Val		B2RMT7	Missense_Mutation	SNP	ENST00000375180.2	37	CCDS14356.1	.	.	.	.	.	.	.	.	.	.	g	10.37	1.330370	0.24167	.	.	ENSG00000184083	ENST00000375180;ENST00000328235;ENST00000477084	T;T;T	0.56103	0.48;0.48;0.48	3.62	1.81	0.25067	.	0.222735	0.35585	U	0.003111	T	0.24122	0.0584	N	0.10972	0.075	0.46654	D	0.999148	P;B;P	0.40083	0.498;0.066;0.702	B;B;B	0.34722	0.139;0.019;0.188	T	0.08659	-1.0711	10	0.08837	T	0.75	-5.1376	8.5069	0.33193	0.2102:0.0:0.7898:0.0	.	194;194;194	F8W881;Q9NX05-2;Q9NX05	.;.;F120C_HUMAN	V	194	ENSP00000364324:A194V;ENSP00000329896:A194V;ENSP00000420718:A194V	ENSP00000329896:A194V	A	-	2	0	FAM120C	54225776	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	5.860000	0.69546	0.211000	0.20683	0.513000	0.50165	GCG		0.721	FAM120C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056795.2	NM_017848		7	17	7	17
USP51	158880	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	55514135	55514135	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	ENST00000500968.3	-	2	1320	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	413	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438																																																0													78.0	74.0	76.0					X																	55514135		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.1238C>T	X.37:g.55514135G>A	ENSP00000423333:p.Ser413Leu		Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	9.336	1.061733	0.19987	.	.	ENSG00000247746	ENST00000500968	T	0.32753	1.44	3.57	2.69	0.31865	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.275770	0.34580	N	0.003854	T	0.20007	0.0481	L	0.28458	0.855	0.23101	N	0.9983	B	0.19200	0.034	B	0.18871	0.023	T	0.15492	-1.0435	10	0.36615	T	0.2	.	8.0403	0.30517	0.1289:0.0:0.8711:0.0	.	413	Q70EK9	UBP51_HUMAN	L	413	ENSP00000423333:S413L	ENSP00000423333:S413L	S	-	2	0	USP51	55530860	1.000000	0.71417	0.692000	0.30179	0.991000	0.79684	3.250000	0.51445	0.677000	0.31305	0.508000	0.49915	TCG		0.438	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286		15	48	15	48
KIAA2022	340533	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	73963361	73963361	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	ENST00000055682.6	-	3	1642	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	344					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGGGCAGGTAGTAAAGAC	0.463																																																0													59.0	52.0	54.0					X																	73963361		2203	4300	6503	SO:0001583	missense	340533				CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1031C>A	X.37:g.73963361G>T	ENSP00000055682:p.Thr344Asn		A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	G	0.297	-0.976011	0.02215	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.22743	1.94;1.94	5.93	5.02	0.67125	.	0.204009	0.49916	D	0.000124	T	0.05181	0.0138	N	0.00793	-1.18	0.25872	N	0.983693	B	0.06786	0.001	B	0.06405	0.002	T	0.35798	-0.9774	10	0.02654	T	1	-10.2644	8.658	0.34075	0.0:0.2019:0.5668:0.2312	.	344	Q5QGS0	K2022_HUMAN	N	344	ENSP00000362567:T344N;ENSP00000055682:T344N	ENSP00000055682:T344N	T	-	2	0	KIAA2022	73880086	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.274000	0.58921	2.510000	0.84645	0.600000	0.82982	ACC		0.463	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		17	72	17	72
CFP	5199	broad.mit.edu;ucsc.edu	37	X	47487019	47487019	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	ENST00000396992.3	-	4	545	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_ENST00000247153.3_Missense_Mutation_p.W142L|CFP_ENST00000480317.1_5'Flank|CFP_ENST00000377005.2_Missense_Mutation_p.W142L	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	142	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632																																																0													14.0	14.0	14.0					X																	47487019		2198	4288	6486	SO:0001583	missense	5199			M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.425G>T	X.37:g.47487019C>A	ENSP00000380189:p.Trp142Leu		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	ENST00000396992.3	37	CCDS14282.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507012	0.64410	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	H	0.98295	4.195	0.80722	D	1	D;D	0.89917	1.0;0.982	D;P	0.97110	1.0;0.904	D	0.91599	0.5293	10	0.87932	D	0	.	14.562	0.68148	0.0:1.0:0.0:0.0	.	78;142	B3KVK6;P27918	.;PROP_HUMAN	L	142;142;142;7	ENSP00000380189:W142L;ENSP00000247153:W142L;ENSP00000366204:W142L;ENSP00000418258:W7L	ENSP00000247153:W142L	W	-	2	0	CFP	47371963	1.000000	0.71417	0.982000	0.44146	0.271000	0.26615	5.409000	0.66374	2.517000	0.84864	0.600000	0.82982	TGG		0.632	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056435.2	NM_002621		7	17	7	17
AMMECR1	9949	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	109459855	109459855	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	ENST00000262844.5	-	3	757	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_ENST00000372059.2_Missense_Mutation_p.L160P|AMMECR1_ENST00000372057.1_Missense_Mutation_p.L74P	NM_015365.2	NP_056180.1	Q9Y4X0	AMMR1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	197	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378																																																0													68.0	62.0	64.0					X																	109459855		2203	4300	6503	SO:0001583	missense	9949			AJ007014	CCDS14551.1, CCDS35368.1, CCDS55476.1	Xq22.3	2014-06-17	2008-09-12		ENSG00000101935	ENSG00000101935			467	protein-coding gene	gene with protein product		300195				10049589, 9480748	Standard	NM_001171689		Approved		uc004eoo.3	Q9Y4X0	OTTHUMG00000022197	ENST00000262844.5:c.590T>C	X.37:g.109459855A>G	ENSP00000262844:p.Leu197Pro		Q5JYV9|Q6P9D8|Q8WX22|Q9UIQ8	Missense_Mutation	SNP	ENST00000262844.5	37	CCDS14551.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432755	0.83776	.	.	ENSG00000101935	ENST00000262844;ENST00000372059;ENST00000372057	.	.	.	5.75	5.75	0.90469	AMMECR1 domain (2);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.79784	0.993;0.986	D	0.89764	0.3949	9	0.87932	D	0	-28.8197	15.0142	0.71570	1.0:0.0:0.0:0.0	.	160;197	Q9Y4X0-3;Q9Y4X0	.;AMER1_HUMAN	P	197;160;74	.	ENSP00000262844:L197P	L	-	2	0	AMMECR1	109346511	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.957000	0.93082	1.928000	0.55862	0.486000	0.48141	CTT		0.378	AMMECR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057907.1			21	101	21	101
OBSCN	84033	broad.mit.edu;ucsc.edu	37	1	228404888	228404888	+	Missense_Mutation	SNP	C	C	T	rs373325473	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	ENST00000422127.1	+	8	2596	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T851M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000570156.2_Missense_Mutation_p.T851M|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	851	Ig-like 8.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGTGGGGACGCGGCACCGG	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		15494	0.002		0.0	False		,,,				2504	0.0															0								C	MET/THR,MET/THR	0,4294		0,0,2147	52.0	61.0	58.0		2552,2552	3.8	0.0	1		58	1,8507		0,1,4253	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	81,81	0,1,6400	TT,TC,CC		0.0118,0.0,0.0078	probably-damaging,probably-damaging	851/7969,851/6621	228404888	1,12801	2147	4254	6401	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.2552C>T	1.37:g.228404888C>T	ENSP00000409493:p.Thr851Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	6.555	0.470672	0.12461	0.0	1.18E-4	ENSG00000154358	ENST00000284548;ENST00000422127	T;T	0.67523	-0.27;-0.27	4.94	3.76	0.43208	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.506961	0.18319	N	0.144850	T	0.71013	0.3290	L	0.61218	1.895	0.09310	N	0.999998	P;D	0.76494	0.95;0.999	P;P	0.60117	0.475;0.869	T	0.60177	-0.7314	10	0.39692	T	0.17	.	4.2505	0.10693	0.3063:0.55:0.0:0.1437	.	851;851	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	M	851	ENSP00000284548:T851M;ENSP00000409493:T851M	ENSP00000284548:T851M	T	+	2	0	OBSCN	226471511	0.000000	0.05858	0.001000	0.08648	0.088000	0.18126	-0.120000	0.10660	0.968000	0.38212	0.655000	0.94253	ACG		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	113	15	113
ZDBF2	57683	broad.mit.edu;ucsc.edu	37	2	207169761	207169761	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	ENST00000374423.3	+	5	895	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	170							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGGTCAGGCTACAAATAAT	0.423																																																0													54.0	52.0	53.0					2																	207169761		1851	4088	5939	SO:0001583	missense	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.509C>T	2.37:g.207169761C>T	ENSP00000363545:p.Ala170Val		Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.259081	0.59321	.	.	ENSG00000204186	ENST00000374423	T	0.16597	2.33	5.11	2.32	0.28847	.	1.667500	0.03943	N	0.287243	T	0.17066	0.0410	L	0.46157	1.445	0.09310	N	1	B	0.28636	0.218	B	0.24155	0.051	T	0.27054	-1.0085	10	0.56958	D	0.05	.	5.3097	0.15823	0.0:0.5917:0.1491:0.2592	.	170	Q9HCK1	ZDBF2_HUMAN	V	170	ENSP00000363545:A170V	ENSP00000363545:A170V	A	+	2	0	ZDBF2	206878006	0.012000	0.17670	0.134000	0.22075	0.127000	0.20565	0.003000	0.13083	0.183000	0.20059	-0.145000	0.13849	GCT		0.423	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		9	37	9	37
SP100	6672	broad.mit.edu;ucsc.edu	37	2	231367785	231367785	+	Silent	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	ENST00000264052.5	+	20	2080	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_ENST00000340126.4_Silent_p.R575R|SP100_ENST00000409112.1_Silent_p.R575R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	575					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289																																																0													78.0	83.0	82.0					2																	231367785		2203	4300	6503	SO:0001819	synonymous_variant	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.1725A>G	2.37:g.231367785A>G			B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Silent	SNP	ENST00000264052.5	37	CCDS2477.1																																																																																				0.289	SP100-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256914.2	NM_003113		18	92	18	92
SERPINB11	89778	broad.mit.edu;ucsc.edu	37	18	61387343	61387343	+	RNA	SNP	A	A	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	ENST00000382749.5	+	0	817				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000544088.1_RNA|SERPINB11_ENST00000489748.1_RNA			Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAAATAAATTTCAAGTA	0.348																																					Ovarian(27;496 784 5942 8975 23930)											0													62.0	64.0	63.0					18																	61387343		1816	4086	5902			89778					18q21.33	2014-02-18	2009-01-22		ENSG00000206072	ENSG00000206072		"""Serine (or cysteine) peptidase inhibitors"""	14221	protein-coding gene	gene with protein product		615682	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 11"", ""serpin peptidase inhibitor, clade B (ovalbumin), member 11"""			17562709, 24172014	Standard	XM_006722569		Approved	EPIPIN	uc002ljk.4	Q96P15	OTTHUMG00000060404		18.37:g.61387343A>T			A8K9R0|Q5Q120|Q5Q121|Q5Q122|Q5Q123|Q6ISD3|Q96P13|Q96P14	RNA	SNP	ENST00000382749.5	37		.	.	.	.	.	.	.	.	.	.	A	19.17	3.776656	0.70107	.	.	ENSG00000206072	ENST00000544088;ENST00000536691	D;D	0.85339	-1.97;-1.97	5.62	4.47	0.54385	Serpin domain (3);	.	.	.	.	D	0.90762	0.7100	M	0.83774	2.66	0.09310	N	1	D;D;D	0.67145	0.98;0.996;0.966	P;D;P	0.65010	0.748;0.931;0.837	T	0.82573	-0.0390	9	0.66056	D	0.02	.	7.1688	0.25706	0.7605:0.1604:0.079:0.0	.	16;191;191	F5GWT8;F5GYW9;Q96P15	.;.;SPB11_HUMAN	I	191;16	ENSP00000441497:K191I;ENSP00000441708:K16I	ENSP00000421854:K191I	K	+	2	0	SERPINB11	59538323	0.000000	0.05858	0.990000	0.47175	0.933000	0.57130	0.446000	0.21694	2.263000	0.75096	0.533000	0.62120	AAA		0.348	SERPINB11-002	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000207392.3	NM_080475		8	33	8	33
SEP15	9403	broad.mit.edu;ucsc.edu	37	1	87369113	87369113	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	ENST00000331835.5	-	2	356	c.94G>T	c.(94-96)Gag>Tag	p.E32*	SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000401030.3_Nonsense_Mutation_p.E32*|SEP15_ENST00000370554.1_Nonsense_Mutation_p.E32*	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN		32					'de novo' posttranslational protein folding (GO:0051084)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)	selenium binding (GO:0008430)						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GATGAAAACTCTGCCCCAAAA	0.418																																																0													32.0	30.0	31.0					1																	87369113		1852	4095	5947	SO:0001587	stop_gained	0																														ENST00000331835.5:c.94G>T	1.37:g.87369113C>A	ENSP00000328729:p.Glu32*		Q4GZG7|Q8WU00|Q9BS64|Q9GZW0|Q9NR01	Nonsense_Mutation	SNP	ENST00000331835.5	37		.	.	.	.	.	.	.	.	.	.	C	38	6.658045	0.97739	.	.	ENSG00000183291	ENST00000331835;ENST00000370554;ENST00000401030	.	.	.	5.79	5.79	0.91817	.	0.105120	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-17.6434	16.5092	0.84280	0.0:0.8608:0.1392:0.0	.	.	.	.	X	32	.	ENSP00000328729:E32X	E	-	1	0	RP4-604K5.1	87141701	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.805000	0.55575	2.753000	0.94483	0.555000	0.69702	GAG		0.418	SEP15-001	KNOWN	basic|appris_principal|seleno	protein_coding	protein_coding	OTTHUMT00000023518.1			12	20	12	20
OR9G1	390174	broad.mit.edu;ucsc.edu	37	11	56468417	56468417	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	ENST00000312153.1	+	1	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	185			E -> K (in dbSNP:rs11228735).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCCTTGGTGGAGCTGGCCTGT	0.463																																																0													117.0	119.0	118.0					11																	56468417		2201	4296	6497	SO:0001583	missense	390174			AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.554A>G	11.37:g.56468417A>G	ENSP00000309012:p.Glu185Gly		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	A	9.397	1.077135	0.20227	.	.	ENSG00000174914	ENST00000312153	T	0.00174	8.62	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.344874	0.25037	N	0.033639	T	0.00144	0.0004	L	0.41573	1.285	0.09310	N	1	B	0.12013	0.005	B	0.22601	0.04	T	0.39623	-0.9605	10	0.52906	T	0.07	-6.0418	5.1574	0.15042	0.751:0.0:0.0879:0.1611	.	185	Q8NH87	OR9G1_HUMAN	G	185	ENSP00000309012:E185G	ENSP00000309012:E185G	E	+	2	0	OR9G1	56224993	0.000000	0.05858	0.985000	0.45067	0.605000	0.37080	1.007000	0.29860	2.006000	0.58801	0.467000	0.42956	GAG		0.463	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		29	130	29	130
ADAMTS18	170692	broad.mit.edu;ucsc.edu	37	16	77401350	77401350	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	ENST00000282849.5	-	4	1184	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ADAMTS18_ENST00000567121.1_5'Flank	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	256					eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCTTGCGTCGTCCACAAAAA	0.443																																																0													81.0	79.0	79.0					16																	77401350		2198	4300	6498	SO:0001587	stop_gained	170692			AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.766C>T	16.37:g.77401350G>A	ENSP00000282849:p.Arg256*		Q6P4R5|Q6ZWJ9	Nonsense_Mutation	SNP	ENST00000282849.5	37	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	G	38	7.081865	0.98051	.	.	ENSG00000140873	ENST00000282849;ENST00000449265	.	.	.	4.99	3.98	0.46160	.	0.064498	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9118	0.58184	0.0:0.0:0.76:0.2399	.	.	.	.	X	256	.	ENSP00000282849:R256X	R	-	1	2	ADAMTS18	75958851	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.703000	0.47110	2.603000	0.88011	0.555000	0.69702	CGA		0.443	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			20	78	20	78
PCSK2	5126	broad.mit.edu;ucsc.edu	37	20	17446133	17446133	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	ENST00000262545.2	+	11	1680	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_ENST00000377899.1_Missense_Mutation_p.M436I|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Missense_Mutation_p.M420I	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	455					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGTGAAAATGGCTAAAGACT	0.567																																																0													78.0	66.0	70.0					20																	17446133		2203	4300	6503	SO:0001583	missense	5126			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1365G>T	20.37:g.17446133G>T	ENSP00000262545:p.Met455Ile		B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Missense_Mutation	SNP	ENST00000262545.2	37	CCDS13125.1	.	.	.	.	.	.	.	.	.	.	G	16.69	3.193715	0.58017	.	.	ENSG00000125851	ENST00000377899;ENST00000262545;ENST00000536609	T;T;T	0.62498	0.02;0.02;0.02	5.68	5.68	0.88126	Galactose-binding domain-like (1);Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.037608	0.85682	D	0.000000	T	0.60483	0.2272	L	0.55834	1.745	0.58432	D	0.999999	B;B;B	0.22909	0.042;0.077;0.008	B;B;B	0.23018	0.043;0.043;0.007	T	0.55256	-0.8169	10	0.35671	T	0.21	-31.3417	18.3441	0.90315	0.0:0.0:1.0:0.0	.	420;436;455	B4DFQ3;B1ANH9;P16519	.;.;NEC2_HUMAN	I	436;455;420	ENSP00000367131:M436I;ENSP00000262545:M455I;ENSP00000437458:M420I	ENSP00000262545:M455I	M	+	3	0	PCSK2	17394133	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.498000	0.81546	2.686000	0.91538	0.555000	0.69702	ATG		0.567	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594		6	48	6	48
CISH	1154	broad.mit.edu;ucsc.edu	37	3	50645154	50645154	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	ENST00000348721.3	-	3	841	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	CISH_ENST00000443053.2_Missense_Mutation_p.R238C	NM_145071.2	NP_659508.1	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	221	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of signal transduction (GO:0009968)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622																																																0													97.0	97.0	97.0					3																	50645154		2203	4300	6503	SO:0001583	missense	1154			Z77852	CCDS2831.1, CCDS46834.1	3p21.3	2013-02-14			ENSG00000114737	ENSG00000114737		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	1984	protein-coding gene	gene with protein product		602441				9465889, 7796808	Standard	NM_013324		Approved	CIS, G18, CIS-1, SOCS	uc003dax.3	Q9NSE2	OTTHUMG00000156853	ENST00000348721.3:c.661C>T	3.37:g.50645154G>A	ENSP00000294173:p.Arg221Cys		B2R9N1|G5E9R1|Q9NS38|Q9Y5R1	Missense_Mutation	SNP	ENST00000348721.3	37	CCDS2831.1	.	.	.	.	.	.	.	.	.	.	G	34	5.394437	0.96009	.	.	ENSG00000114737	ENST00000443053;ENST00000348721	T;T	0.51817	0.69;0.69	5.73	5.73	0.89815	SOCS protein, C-terminal (4);	0.100972	0.64402	D	0.000001	T	0.53302	0.1788	L	0.31420	0.93	0.80722	D	1	D;D	0.69078	0.997;0.996	P;P	0.55303	0.764;0.773	T	0.53795	-0.8388	10	0.56958	D	0.05	-17.355	19.5168	0.95168	0.0:0.0:1.0:0.0	.	238;221	G5E9R1;Q9NSE2	.;CISH_HUMAN	C	238;221	ENSP00000409346:R238C;ENSP00000294173:R221C	ENSP00000294173:R221C	R	-	1	0	CISH	50620158	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.660000	0.74417	2.693000	0.91896	0.655000	0.94253	CGC		0.622	CISH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346245.1	NM_145071		23	104	23	104
TNXB	7148	broad.mit.edu;ucsc.edu	37	6	32049264	32049264	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	ENST00000375244.3	-	10	4124	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	TNXB_ENST00000375247.2_Missense_Mutation_p.A1308V|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1395	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617																																																0													32.0	36.0	35.0					6																	32049264		2044	4183	6227	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3923C>T	6.37:g.32049264G>A	ENSP00000364393:p.Ala1308Val		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	10.20	1.284947	0.23392	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.04551	3.6;3.6	5.55	-3.29	0.05017	.	2.028370	0.02480	N	0.088392	T	0.01558	0.0050	L	0.47716	1.5	0.09310	N	1	P	0.40681	0.727	B	0.36030	0.216	T	0.39482	-0.9612	10	0.39692	T	0.17	.	7.0117	0.24865	0.0:0.1808:0.3792:0.4399	.	1308	P22105-3	.	V	1308	ENSP00000364393:A1308V;ENSP00000364396:A1308V	ENSP00000364393:A1308V	A	-	2	0	TNXB	32157242	0.000000	0.05858	0.000000	0.03702	0.473000	0.32948	-2.653000	0.00856	-0.857000	0.04115	-0.723000	0.03601	GCG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		4	19	4	19
HTR1E	3354	broad.mit.edu;ucsc.edu	37	6	87725427	87725427	+	Silent	SNP	C	C	A			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	ENST00000305344.5	+	2	1078	c.375C>A	c.(373-375)acC>acA	p.T125T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	125					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GGGCCATCACCAATGCTATTG	0.562																																																0													106.0	85.0	92.0					6																	87725427		2203	4300	6503	SO:0001819	synonymous_variant	3354				CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.375C>A	6.37:g.87725427C>A			E1P503|Q9P1Y1	Silent	SNP	ENST00000305344.5	37	CCDS5006.1																																																																																				0.562	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865		18	129	18	129
TP53	7157	broad.mit.edu;hgsc.bcm.edu	37	17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	ENST00000269305.4	-	8	1022	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs	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	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		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"""	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	GRCh37	CM961376	TP53	M							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001589	frameshift_variant	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.833delC	17.37:g.7577105delG	ENSP00000269305:p.Pro278fs		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	Frame_Shift_Del	DEL	ENST00000269305.4	37	CCDS11118.1																																																																																				0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	13	38	13
EMILIN2	84034	broad.mit.edu;hgsc.bcm.edu	37	18	2891806	2891806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	ENST00000254528.3	+	4	1840	c.1681delC	c.(1681-1683)cctfs	p.P561fs		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	561					cell adhesion (GO:0007155)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502																																																0													74.0	70.0	71.0					18																	2891806		2203	4300	6503	SO:0001589	frameshift_variant	84034			AF270513	CCDS11828.1	18p11.3	2008-02-05			ENSG00000132205	ENSG00000132205		"""EMI domain containing"""	19881	protein-coding gene	gene with protein product		608928					Standard	NM_032048		Approved	FLJ33200, FOAP-10	uc002kln.3	Q9BXX0	OTTHUMG00000128525	ENST00000254528.3:c.1681delC	18.37:g.2891806delC	ENSP00000254528:p.Pro561fs		B2RMY3|Q8NBH3|Q96JQ4	Frame_Shift_Del	DEL	ENST00000254528.3	37	CCDS11828.1																																																																																				0.502	EMILIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250337.2	NM_032048		23	62	23	62
CYTH4	27128	broad.mit.edu;hgsc.bcm.edu	37	22	37705324	37705326	+	In_Frame_Del	DEL	CTT	CTT	-	rs542894219		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	ENST00000248901.6	+	9	955_957	c.768_770delCTT	c.(766-771)accttc>acc	p.F258del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	258					positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567																																																0																																										SO:0001651	inframe_deletion	27128			AF075458	CCDS13946.1	22q12.3-q13.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000100055	ENSG00000100055		"""Pleckstrin homology (PH) domain containing"""	9505	protein-coding gene	gene with protein product		606514	"""pleckstrin homology, Sec7 and coiled/coil domains 4"", ""pleckstrin homology, Sec7 and coiled-coil domains 4"""	PSCD4		10591208	Standard	NM_013385		Approved	CYT4, cytohesin-4	uc003arf.3	Q9UIA0	OTTHUMG00000150562	ENST00000248901.6:c.768_770delCTT	22.37:g.37705327_37705329delCTT	ENSP00000248901:p.Phe258del		Q5R3F9|Q9UGT6	In_Frame_Del	DEL	ENST00000248901.6	37	CCDS13946.1																																																																																				0.567	CYTH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318917.1			45	80	45	80
