#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AGRN	375790	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	981443	981443	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:981443C>G	ENST00000379370.2	+	16	2830	c.2780C>G	c.(2779-2781)aCc>aGc	p.T927S		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	927	Kazal-like 9. {ECO:0000255|PROSITE- ProRule:PRU00798}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|clustering of voltage-gated sodium channels (GO:0045162)|extracellular matrix organization (GO:0030198)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|neuromuscular junction development (GO:0007528)|neurotransmitter receptor metabolic process (GO:0045213)|phototransduction, visible light (GO:0007603)|plasma membrane organization (GO:0007009)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of synaptic growth at neuromuscular junction (GO:0045887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor clustering (GO:0043113)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synapse organization (GO:0050808)	basal lamina (GO:0005605)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acetylcholine receptor regulator activity (GO:0030548)|calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|dystroglycan binding (GO:0002162)|heparan sulfate proteoglycan binding (GO:0043395)|laminin binding (GO:0043236)|sialic acid binding (GO:0033691)|structural constituent of cytoskeleton (GO:0005200)	p.T927S(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		CCGATGCTCACCTGTCCAGAG	0.637																																																	1	Substitution - Missense(1)	kidney(1)											162.0	156.0	158.0					1																	981443		2203	4300	6503	SO:0001583	missense	375790			XM_372195	CCDS30551.1	1p36.33	2014-09-17		2007-02-16	ENSG00000188157	ENSG00000188157		"""Proteoglycans / Extracellular Matrix : Other"""	329	protein-coding gene	gene with protein product	"""agrin proteoglycan"""	103320				1851019, 12270958	Standard	NM_198576		Approved	AGRIN	uc001ack.2	O00468	OTTHUMG00000040778	ENST00000379370.2:c.2780C>G	1.37:g.981443C>G	ENSP00000368678:p.Thr927Ser		Q5SVA1|Q5SVA2|Q60FE1|Q7KYS8|Q8N4J5|Q96IC1|Q9BTD4	Missense_Mutation	SNP	ENST00000379370.2	37	CCDS30551.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608935	0.28623	.	.	ENSG00000188157	ENST00000379370	T	0.74421	-0.84	5.6	4.59	0.56863	Proteinase inhibitor I1, Kazal (1);	0.779782	0.11307	N	0.577583	T	0.59676	0.2211	N	0.16708	0.43	0.09310	N	1	P	0.48640	0.913	P	0.45232	0.474	T	0.52041	-0.8628	10	0.49607	T	0.09	-8.1959	4.2894	0.10870	0.0:0.7533:0.0:0.2467	.	927	O00468	AGRIN_HUMAN	S	927	ENSP00000368678:T927S	ENSP00000368678:T927S	T	+	2	0	AGRN	971306	0.024000	0.19004	0.108000	0.21378	0.064000	0.16182	2.628000	0.46477	2.636000	0.89361	0.655000	0.94253	ACC		0.637	AGRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097990.2		NM_198576	
AHNAK2	113146	hgsc.bcm.edu	37	14	105415666	105415666	+	Missense_Mutation	SNP	G	G	A	rs150446570	byFrequency	TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr14:105415666G>A	ENST00000333244.5	-	7	6241	c.6122C>T	c.(6121-6123)cCt>cTt	p.P2041L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2041						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCAGAAGGGGGCTGAAT	0.657													.|||	1030	0.205671	0.0522	0.2767	5008	,	,		12622	0.0407		0.4135	False		,,,				2504	0.319																0													103.0	64.0	77.0					14																	105415666		1915	4022	5937	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6122C>T	14.37:g.105415666G>A	ENSP00000353114:p.Pro2041Leu		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	15.40	2.821193	0.50633	.	.	ENSG00000185567	ENST00000333244	T	0.02032	4.49	3.87	3.87	0.44632	.	.	.	.	.	T	0.15046	0.0363	M	0.89030	3	0.25811	N	0.984398	D	0.89917	1.0	D	0.91635	0.999	T	0.04840	-1.0923	9	0.36615	T	0.2	-14.9447	14.4707	0.67514	0.0:0.0:1.0:0.0	.	2041	Q8IVF2	AHNK2_HUMAN	L	2041	ENSP00000353114:P2041L	ENSP00000353114:P2041L	P	-	2	0	AHNAK2	104486711	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.423000	0.02450	1.720000	0.51447	0.485000	0.47835	CCT		0.657	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1		NM_138420	
AVPR2	554	broad.mit.edu	37	X	153171715	153171715	+	Missense_Mutation	SNP	G	G	A	rs368306347		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:153171715G>A	ENST00000358927.2	+	3	964	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	AVPR2_ENST00000370049.1_Missense_Mutation_p.R252Q|AVPR2_ENST00000337474.5_Missense_Mutation_p.R252Q			P30518	V2R_HUMAN	arginine vasopressin receptor 2	252			R -> W (in dbSNP:rs61733407).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)	p.R252Q(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	AGGGGACGCCGGACAGGCAGC	0.652																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						G	GLN/ARG,GLN/ARG	1,3834		0,1,1631,571	83.0	72.0	76.0		755,755	0.2	0.0	X		76	0,6728		0,0,2428,1872	no	missense,missense	AVPR2	NM_000054.4,NM_001146151.1	43,43	0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095	possibly-damaging,possibly-damaging	252/372,252/310	153171715	1,10562	2203	4300	6503	SO:0001583	missense	554			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.755G>A	X.37:g.153171715G>A	ENSP00000351805:p.Arg252Gln		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	ENST00000358927.2	37	CCDS14735.1	.	.	.	.	.	.	.	.	.	.	g	0.069	-1.205466	0.01568	2.61E-4	0.0	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.77358	-1.09;-0.86;-1.09;-0.51	4.13	0.151	0.14888	GPCR, rhodopsin-like superfamily (1);	1.368180	0.04734	N	0.421642	T	0.66636	0.2809	L	0.41415	1.275	0.20563	N	0.999889	B;B	0.15141	0.012;0.007	B;B	0.11329	0.005;0.006	T	0.41106	-0.9527	10	0.23302	T	0.38	-13.4909	4.2092	0.10503	0.4162:0.0:0.4253:0.1585	.	252;252	P30518-2;P30518	.;V2R_HUMAN	Q	252	ENSP00000351805:R252Q;ENSP00000393513:R252Q;ENSP00000338072:R252Q;ENSP00000359066:R252Q	ENSP00000338072:R252Q	R	+	2	0	AVPR2	152824909	0.078000	0.21339	0.007000	0.13788	0.017000	0.09413	1.392000	0.34486	-0.062000	0.13088	-0.819000	0.03115	CGG		0.652	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061127.2			
HECTD4	283450	broad.mit.edu;hgsc.bcm.edu	37	12	112650409	112650409	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:112650409G>T	ENST00000430131.2	-	48	7390	c.6245C>A	c.(6244-6246)cCt>cAt	p.P2082H	HECTD4_ENST00000377560.5_Missense_Mutation_p.P2332H|HECTD4_ENST00000550722.1_Missense_Mutation_p.P2358H			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	2082					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.P2332H(1)|p.P2082H(1)									TCCCGGAGGAGGTGGAGTCCC	0.527																																																	2	Substitution - Missense(2)	kidney(2)											45.0	48.0	47.0					12																	112650409		1913	4141	6054	SO:0001583	missense	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.6245C>A	12.37:g.112650409G>T	ENSP00000404379:p.Pro2082His		L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.7|27.7	4.858261|4.858261	0.91433|0.91433	.|.	.|.	ENSG00000173064|ENSG00000173064	ENST00000550968|ENST00000377560;ENST00000430131;ENST00000550722	.|T;T;T	.|0.53857	.|0.6;0.61;0.6	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	.|.	.|.	.|.	.|.	T|T	0.60405|0.60405	0.2266|0.2266	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	T|T	0.66143|0.66143	-0.5997|-0.5997	5|9	.|0.87932	.|D	.|0	.|.	20.3325|20.3325	0.98724|0.98724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2082	.|Q9Y4D8	.|K0614_HUMAN	I|H	249|2332;2082;2358	.|ENSP00000366783:P2332H;ENSP00000404379:P2082H;ENSP00000449784:P2358H	.|ENSP00000366783:P2332H	L|P	-|-	1|2	0|0	C12orf51|C12orf51	111134792|111134792	1.000000|1.000000	0.71417|0.71417	0.990000|0.990000	0.47175|0.47175	0.792000|0.792000	0.44763|0.44763	9.375000|9.375000	0.97178|0.97178	2.805000|2.805000	0.96524|0.96524	0.655000|0.655000	0.94253|0.94253	CTC|CCT		0.527	HECTD4-202	KNOWN	basic	protein_coding	protein_coding			NM_173813	
NRDE2	55051	hgsc.bcm.edu;ucsc.edu	37	14	90754790	90754793	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	CACT	CACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr14:90754790_90754793delCACT	ENST00000354366.3	-	11	3158_3161	c.2926_2929delAGTG	c.(2926-2931)agtgttfs	p.SV976fs	NRDE2_ENST00000357904.3_Frame_Shift_Del_p.SV745fs	NM_017970.3	NP_060440.2	Q9H7Z3	NRDE2_HUMAN	NRDE-2, necessary for RNA interference, domain containing	976																	AGCGGGTAAACACTCACTTTCATG	0.529																																																	0																																										SO:0001589	frameshift_variant	0			AK000870	CCDS9890.1	14q32.11	2012-12-14	2012-09-25	2012-09-25	ENSG00000119720	ENSG00000119720			20186	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 102"""	C14orf102			Standard	NM_017970		Approved	FLJ14051	uc001xyi.2	Q9H7Z3	OTTHUMG00000171020	ENST00000354366.3:c.2926_2929delAGTG	14.37:g.90754794_90754797delCACT	ENSP00000346335:p.Ser976fs		B4DH71|Q4G0A7|Q9NWH6	Frame_Shift_Del	DEL	ENST00000354366.3	37	CCDS9890.1																																																																																				0.529	NRDE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411264.1		NM_017970	
MOAP1	64112	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	93652729	93652729	+	5'Flank	SNP	C	C	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr14:93652729C>T	ENST00000556883.1	-	0	0				RP11-371E8.4_ENST00000557048.1_Intron|MOAP1_ENST00000298894.4_5'Flank|TMEM251_ENST00000415050.2_Silent_p.L75L|TMEM251_ENST00000283534.4_Silent_p.L37L|RP11-371E8.4_ENST00000557574.1_Silent_p.L37L			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1						apoptotic signaling pathway (GO:0097190)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of apoptotic process (GO:0043065)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:0001844)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ubiquitin protein ligase binding (GO:0031625)	p.L75L(1)|p.L37L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		TTACAACAGGCTGGCCTTGGA	0.478																																																	2	Substitution - coding silent(2)	kidney(2)											165.0	164.0	164.0					14																	93652729		1959	4148	6107	SO:0001631	upstream_gene_variant	0			BC015044	CCDS9908.1	14q32.12	2012-02-09			ENSG00000165943	ENSG00000165943		"""Paraneoplastic Ma antigens"""	16658	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 4"""	609485				11060313	Standard	NM_022151		Approved	MAP-1, PNMA4	uc001ybj.3	Q96BY2	OTTHUMG00000169184		14.37:g.93652729C>T	Exception_encountered		B2RDF6|Q9H833|Q9HAS1	Silent	SNP	ENST00000556883.1	37	CCDS9908.1																																																																																				0.478	MOAP1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412685.1			
CACNA2D4	93589	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	2022187	2022187	+	Splice_Site	SNP	A	A	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:2022187A>G	ENST00000382722.5	-	3	789		c.e3+1		CACNA2D4_ENST00000585708.1_Splice_Site|CACNA2D4_ENST00000588077.1_Splice_Site|CACNA2D4_ENST00000585732.1_Splice_Site|CACNA2D4_ENST00000586184.1_Splice_Site|CACNA2D4_ENST00000587995.1_Splice_Site	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4						calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.?(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GGCCTGGAGTACCTGGACCGC	0.607																																					Colon(2;101 179 21030 23310 28141)												2	Unknown(2)	kidney(2)											99.0	115.0	109.0					12																	2022187		2133	4237	6370	SO:0001630	splice_region_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.426+1T>C	12.37:g.2022187A>G			Q7Z3S8|Q86XZ5|Q8IZS9	Splice_Site	SNP	ENST00000382722.5	37	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.901097	0.33535	.	.	ENSG00000151062	ENST00000456077;ENST00000280663;ENST00000382722	.	.	.	5.32	5.32	0.75619	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.995	0.71425	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CACNA2D4	1892448	1.000000	0.71417	0.834000	0.33040	0.013000	0.08279	8.806000	0.91930	2.022000	0.59522	0.529000	0.55759	.		0.607	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			Intron
CASC1	55259	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	25347862	25347862	+	Intron	SNP	G	G	C	rs201727120		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:25347862G>C	ENST00000320267.9	-	1	85				LYRM5_ENST00000555711.1_5'Flank|CASC1_ENST00000354189.5_Silent_p.P45P|CASC1_ENST00000557684.1_Intron|CASC1_ENST00000537577.1_Intron|LYRM5_ENST00000556927.1_5'Flank|LYRM5_ENST00000381356.4_5'Flank|LYRM5_ENST00000556402.1_5'Flank|LYRM5_ENST00000556351.1_5'Flank|LYRM5_ENST00000557540.2_5'Flank|CASC1_ENST00000395987.3_Intron|CASC1_ENST00000545133.1_Intron|CASC1_ENST00000395990.2_Intron|LYRM5_ENST00000556885.1_5'Flank|LYRM5_ENST00000554266.1_5'Flank|LYRM5_ENST00000553788.1_5'Flank	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1									p.P45P(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			GCTGAGAAGAGGGCCGACCCA	0.498																																																	1	Substitution - coding silent(1)	kidney(1)											67.0	68.0	68.0					12																	25347862		1891	4119	6010	SO:0001627	intron_variant	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.3+147C>G	12.37:g.25347862G>C			B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Silent	SNP	ENST00000320267.9	37	CCDS41762.1																																																																																				0.498	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1		NM_018272	
CASP7	840	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	115489084	115489084	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr10:115489084A>T	ENST00000345633.4	+	8	1081	c.697A>T	c.(697-699)Agg>Tgg	p.R233W	CASP7_ENST00000369331.4_Silent_p.G221G|CASP7_ENST00000369321.2_Missense_Mutation_p.R266W|CASP7_ENST00000369318.3_Missense_Mutation_p.R233W|CASP7_ENST00000452490.2_Missense_Mutation_p.R208W|CASP7_ENST00000369315.1_Missense_Mutation_p.R233W	NM_033339.4	NP_203125.1	P55210	CASP7_HUMAN	caspase 7, apoptosis-related cysteine peptidase	233					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway (GO:0097193)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.R266W(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8		Colorectal(252;0.0946)|Breast(234;0.188)		Epithelial(162;0.012)|all cancers(201;0.014)		TTACTCGTGGAGGAGCCCAGG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											99.0	106.0	104.0					10																	115489084		2203	4300	6503	SO:0001583	missense	840			U37448	CCDS7580.1, CCDS7581.1, CCDS7582.1, CCDS58096.1, CCDS73200.1	10q25	2006-02-17	2005-08-17		ENSG00000165806	ENSG00000165806		"""Caspases"""	1508	protein-coding gene	gene with protein product		601761	"""caspase 7, apoptosis-related cysteine protease"""			8521391, 8576161	Standard	NM_033338		Approved	MCH3, CMH-1, ICE-LAP3	uc010qsa.3	P55210	OTTHUMG00000019076	ENST00000345633.4:c.697A>T	10.37:g.115489084A>T	ENSP00000298701:p.Arg233Trp		B4DQU7|B5BU45|D3DRB8|Q13364|Q53YD5|Q5SVL0|Q5SVL3|Q96BA0	Missense_Mutation	SNP	ENST00000345633.4	37	CCDS7581.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042339	0.75732	.	.	ENSG00000165806	ENST00000369321;ENST00000345633;ENST00000369318;ENST00000442393;ENST00000369315;ENST00000452490	T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77	5.85	3.42	0.39159	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase non-catalytic subunit p10 (1);Peptidase C14, caspase precursor p45, core (2);	0.041854	0.85682	D	0.000000	T	0.51550	0.1681	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.54463	-0.8290	9	0.87932	D	0	.	12.6428	0.56718	0.5987:0.4013:0.0:0.0	.	208;241;266;233	B4DQU7;B4DWA2;P55210-3;P55210	.;.;.;CASP7_HUMAN	W	266;233;233;194;233;208	ENSP00000358327:R266W;ENSP00000298701:R233W;ENSP00000358324:R233W;ENSP00000358321:R233W;ENSP00000398107:R208W	ENSP00000298701:R233W	R	+	1	2	CASP7	115479074	1.000000	0.71417	1.000000	0.80357	0.826000	0.46750	3.885000	0.56182	0.424000	0.26061	0.533000	0.62120	AGG		0.502	CASP7-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050439.1		NM_033338	
CDH12	1010	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	21751935	21751935	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr5:21751935C>A	ENST00000382254.1	-	15	3382	c.2296G>T	c.(2296-2298)Gac>Tac	p.D766Y	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Missense_Mutation_p.D766Y|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.D726Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	766					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D766Y(1)		NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GTCAGATAGTCATAGTCCTGG	0.507										HNSCC(59;0.17)																																							1	Substitution - Missense(1)	kidney(1)											115.0	110.0	111.0					5																	21751935		2203	4300	6503	SO:0001583	missense	1010			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.2296G>T	5.37:g.21751935C>A	ENSP00000371689:p.Asp766Tyr		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657686	0.47467	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.81078	-1.45;-1.45;-1.45	5.18	4.29	0.51040	Cadherin, cytoplasmic domain (1);	0.197880	0.52532	D	0.000071	D	0.91429	0.7295	H	0.95780	3.72	0.41747	D	0.989643	D;P	0.54964	0.969;0.911	D;P	0.63192	0.912;0.583	D	0.93193	0.6585	10	0.87932	D	0	.	12.4482	0.55664	0.0:0.9162:0.0:0.0838	.	726;766	B7Z2U6;P55289	.;CAD12_HUMAN	Y	766;766;726	ENSP00000423577:D766Y;ENSP00000371689:D766Y;ENSP00000428786:D726Y	ENSP00000371689:D766Y	D	-	1	0	CDH12	21787692	1.000000	0.71417	0.701000	0.30321	0.703000	0.40648	4.052000	0.57420	1.137000	0.42214	0.467000	0.42956	GAC		0.507	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1		NM_004061	
CUX1	1523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	101923413	101923413	+	Splice_Site	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:101923413G>T	ENST00000560541.1	+	19	2352		c.e19+1		CUX1_ENST00000425244.2_Splice_Site|CUX1_ENST00000393824.3_Splice_Site|CUX1_ENST00000547394.2_Splice_Site|CUX1_ENST00000437600.4_Splice_Site|CUX1_ENST00000292538.4_Splice_Site			P39880	CUX1_HUMAN	cut-like homeobox 1						auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)	p.?(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCAAGCGGGTTCGTGAGCC	0.677																																																	1	Unknown(1)	kidney(1)											61.0	52.0	55.0					7																	101923413		2203	4300	6503	SO:0001630	splice_region_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000560541.1:c.2352+1G>T	7.37:g.101923413G>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Splice_Site	SNP	ENST00000560541.1	37		.	.	.	.	.	.	.	.	.	.	g	16.45	3.127113	0.56721	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000425244;ENST00000437600	.	.	.	3.33	3.33	0.38152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.197	0.73100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CUX1	101710133	1.000000	0.71417	0.989000	0.46669	0.551000	0.35334	6.961000	0.76042	1.870000	0.54199	0.556000	0.70494	.		0.677	CUX1-019	KNOWN	basic|exp_conf	processed_transcript	protein_coding	OTTHUMT00000418419.1		NM_001913	Intron
DCST1	149095	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155014062	155014062	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:155014062G>C	ENST00000295542.1	+	7	817	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	DCST1_ENST00000392480.1_Missense_Mutation_p.E241Q|DCST1_ENST00000423025.2_Missense_Mutation_p.E216Q|DCST1_ENST00000368419.2_Missense_Mutation_p.E241Q	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	241						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.E241Q(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GAAGATGTATGAGCTGAAGAC	0.617																																																	1	Substitution - Missense(1)	kidney(1)											63.0	64.0	64.0					1																	155014062		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.721G>C	1.37:g.155014062G>C	ENSP00000295542:p.Glu241Gln		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528395	0.27299	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	4.27	4.27	0.50696	.	0.557749	0.15882	N	0.239998	T	0.44973	0.1319	M	0.63428	1.95	0.28315	N	0.922507	P;D;P	0.63880	0.92;0.993;0.92	B;P;B	0.54590	0.255;0.756;0.255	T	0.27571	-1.0070	10	0.30854	T	0.27	-28.9646	8.2348	0.31620	0.1075:0.0:0.8925:0.0	.	216;266;241	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	Q	241;241;216;241	ENSP00000295542:E241Q;ENSP00000376271:E241Q;ENSP00000387369:E216Q;ENSP00000357404:E241Q	ENSP00000295542:E241Q	E	+	1	0	DCST1	153280686	1.000000	0.71417	0.988000	0.46212	0.952000	0.60782	3.931000	0.56529	2.387000	0.81309	0.462000	0.41574	GAG		0.617	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1		NM_152494	
DENND5A	23258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	9225842	9225842	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr11:9225842G>A	ENST00000328194.3	-	4	634	c.314C>T	c.(313-315)gCa>gTa	p.A105V	DENND5A_ENST00000530044.1_Missense_Mutation_p.A105V	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	105	UDENN.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A105V(1)		breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTCTTGAATGCCAGCCCTTT	0.473																																																	1	Substitution - Missense(1)	kidney(1)											58.0	57.0	58.0					11																	9225842		2201	4296	6497	SO:0001583	missense	23258			AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.314C>T	11.37:g.9225842G>A	ENSP00000328524:p.Ala105Val		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	CCDS31423.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.197902	0.79015	.	.	ENSG00000184014	ENST00000328194;ENST00000530044	T;T	0.44083	0.93;0.93	5.57	5.57	0.84162	uDENN (3);	0.050138	0.85682	D	0.000000	T	0.34658	0.0905	N	0.03608	-0.345	0.80722	D	1	B;P	0.35575	0.271;0.51	B;P	0.45913	0.21;0.497	T	0.43410	-0.9393	10	0.44086	T	0.13	.	19.555	0.95342	0.0:0.0:1.0:0.0	.	105;105	E9PS91;Q6IQ26	.;DEN5A_HUMAN	V	105	ENSP00000328524:A105V;ENSP00000435866:A105V	ENSP00000328524:A105V	A	-	2	0	DENND5A	9182418	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.640000	0.89533	0.655000	0.94253	GCA		0.473	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2		NM_015213	
EFCAB5	374786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	28386632	28386632	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr17:28386632G>T	ENST00000394835.3	+	14	2842	c.2650G>T	c.(2650-2652)Gat>Tat	p.D884Y	RNY4P13_ENST00000384284.1_RNA|EFCAB5_ENST00000541045.1_Intron|EFCAB5_ENST00000378738.3_Missense_Mutation_p.D884Y|AC104984.4_ENST00000583250.1_RNA|EFCAB5_ENST00000536908.2_Intron|EFCAB5_ENST00000320856.5_Intron|EFCAB5_ENST00000394832.2_Missense_Mutation_p.D884Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	884	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.D884Y(1)		breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GTGGGACAGTGATGGCTCAGG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											100.0	99.0	99.0					17																	28386632		1855	4098	5953	SO:0001583	missense	374786			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.2650G>T	17.37:g.28386632G>T	ENSP00000378312:p.Asp884Tyr		B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	ENST00000394835.3	37	CCDS11254.2	.	.	.	.	.	.	.	.	.	.	G	18.22	3.575447	0.65878	.	.	ENSG00000176927	ENST00000394835;ENST00000394832;ENST00000378738	T;T;T	0.35421	1.31;1.31;1.31	5.39	4.42	0.53409	EF-hand-like domain (1);	.	.	.	.	T	0.56171	0.1967	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.993	D;P	0.69479	0.964;0.891	T	0.59894	-0.7368	9	0.72032	D	0.01	-13.9765	11.7645	0.51922	0.0858:0.0:0.9142:0.0	.	884;884	B5MEA3;A4FU69	.;EFCB5_HUMAN	Y	884	ENSP00000378312:D884Y;ENSP00000378309:D884Y;ENSP00000368012:D884Y	ENSP00000368012:D884Y	D	+	1	0	EFCAB5	25410758	1.000000	0.71417	0.943000	0.38184	0.943000	0.58893	4.526000	0.60566	1.262000	0.44165	0.455000	0.32223	GAT		0.413	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256120.4		NM_198529	
FAM200A	221786	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99145777	99145777	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:99145777A>T	ENST00000449309.1	-	2	633	c.254T>A	c.(253-255)aTc>aAc	p.I85N		NM_145111.3	NP_659802.1	Q8TCP9	F200A_HUMAN	family with sequence similarity 200, member A	85						integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)	p.I85N(1)		endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						tgctggaaggataattttttc	0.378																																																	1	Substitution - Missense(1)	kidney(1)											76.0	75.0	75.0					7																	99145777		2105	4071	6176	SO:0001583	missense	221786				CCDS5668.1	7q22.1	2010-02-22	2010-02-22	2010-02-22	ENSG00000221909	ENSG00000221909			25401	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 38"""	C7orf38		10607616	Standard	NM_145111		Approved	FLJ36794, DKFZp727G131	uc003ura.3	Q8TCP9	OTTHUMG00000156723	ENST00000449309.1:c.254T>A	7.37:g.99145777A>T	ENSP00000411372:p.Ile85Asn		A4D293|A8K3V9|B2RD92|C9J6A8|D6W5T2|Q8N9P3	Missense_Mutation	SNP	ENST00000449309.1	37	CCDS5668.1	.	.	.	.	.	.	.	.	.	.	A	15.56	2.870815	0.51695	.	.	ENSG00000221909	ENST00000449309;ENST00000408938	T;T	0.48201	0.82;0.82	2.58	2.58	0.30949	.	0.638626	0.12736	N	0.443408	T	0.51873	0.1700	L	0.34521	1.04	0.25042	N	0.991192	D	0.76494	0.999	D	0.74674	0.984	T	0.29579	-1.0007	10	0.39692	T	0.17	.	7.0471	0.25052	1.0:0.0:0.0:0.0	.	85	Q8TCP9	F200A_HUMAN	N	85	ENSP00000411372:I85N;ENSP00000386191:I85N	ENSP00000386191:I85N	I	-	2	0	FAM200A	98983713	1.000000	0.71417	0.983000	0.44433	0.951000	0.60555	2.096000	0.41738	1.422000	0.47177	0.533000	0.62120	ATC		0.378	FAM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345467.1		NM_145111	
BRINP2	57795	hgsc.bcm.edu	37	1	177250096	177250097	+	Frame_Shift_Ins	INS	-	-	C	rs142394323		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:177250096_177250097insC	ENST00000361539.4	+	8	2096_2097	c.1784_1785insC	c.(1783-1788)ggcagcfs	p.S596fs	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	596					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)		p.S596fs*4(1)									CCCTTTGGGGGCAGCCACTCTG	0.564																																																	1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)																																								SO:0001589	frameshift_variant	57795				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1785dupC	1.37:g.177250097_177250097dupC	ENSP00000354481:p.Ser596fs		O95560|Q6ZWC1|Q7LCZ9|Q8N360	Frame_Shift_Ins	INS	ENST00000361539.4	37	CCDS1320.1																																																																																				0.564	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084599.1		NM_021165	
FBLN2	2199	broad.mit.edu	37	3	13612493	13612493	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr3:13612493G>C	ENST00000295760.7	+	2	707	c.638G>C	c.(637-639)gGg>gCg	p.G213A	FBLN2_ENST00000404922.3_Missense_Mutation_p.G213A|FBLN2_ENST00000492059.1_Missense_Mutation_p.G213A|FBLN2_ENST00000535798.1_Missense_Mutation_p.G239A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	213	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)	p.G213A(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			ACAGCCCTGGGGGGTGAGGTC	0.672																																																	1	Substitution - Missense(1)	kidney(1)											18.0	21.0	20.0					3																	13612493		2044	4188	6232	SO:0001583	missense	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.638G>C	3.37:g.13612493G>C	ENSP00000295760:p.Gly213Ala		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	1.915	-0.449682	0.04572	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.77620	-1.11;-1.05;-1.02;-1.05	5.45	-5.46	0.02608	.	1.136770	0.06564	N	0.747155	T	0.40909	0.1136	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.06405	0.001;0.002;0.002	T	0.46978	-0.9152	10	0.02654	T	1	.	0.7786	0.01036	0.2798:0.1525:0.3256:0.2421	.	213;213;239	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	A	239;213;213;213	ENSP00000445705:G239A;ENSP00000384169:G213A;ENSP00000295760:G213A;ENSP00000420042:G213A	ENSP00000295760:G213A	G	+	2	0	FBLN2	13587493	0.004000	0.15560	0.000000	0.03702	0.012000	0.07955	0.642000	0.24735	-0.569000	0.06030	0.650000	0.86243	GGG		0.672	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019	
FEM1B	10116	hgsc.bcm.edu;ucsc.edu	37	15	68582267	68582267	+	Silent	SNP	T	T	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr15:68582267T>C	ENST00000306917.4	+	2	1186	c.571T>C	c.(571-573)Ttg>Ctg	p.L191L		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	191					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AGCCACAGCATTGCACTTTGC	0.463																																																	0													73.0	63.0	67.0					15																	68582267		2200	4298	6498	SO:0001819	synonymous_variant	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.571T>C	15.37:g.68582267T>C			O43146	Silent	SNP	ENST00000306917.4	37	CCDS10228.1																																																																																				0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			
Unknown	0	broad.mit.edu	37	13	52400734	52400734	+	IGR	DEL	A	A	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr13:52400734delA								RP11-327P2.5 (13378 upstream) : CCDC70 (35382 downstream)																							CAGAGCCAGGAAAGCACAGAG	0.562																																																	0																																										SO:0001628	intergenic_variant	0																															13.37:g.52400734delA				Frame_Shift_Del	DEL		37																																																																																				0	0.562									
GCN1L1	10985	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	120582805	120582805	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:120582805A>T	ENST00000300648.6	-	40	5089	c.5077T>A	c.(5077-5079)Ttt>Att	p.F1693I		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1693					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)	p.F1693I(1)		NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTCCTCAAAGCACGACTCC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											83.0	89.0	87.0					12																	120582805		2173	4275	6448	SO:0001583	missense	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.5077T>A	12.37:g.120582805A>T	ENSP00000300648:p.Phe1693Ile		A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Missense_Mutation	SNP	ENST00000300648.6	37	CCDS41847.1	.	.	.	.	.	.	.	.	.	.	A	34	5.342577	0.95783	.	.	ENSG00000089154	ENST00000300648	T	0.65178	-0.14	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79981	0.4540	M	0.84082	2.675	0.80722	D	1	D	0.69078	0.997	D	0.67103	0.949	T	0.83066	-0.0145	10	0.66056	D	0.02	.	15.9002	0.79369	1.0:0.0:0.0:0.0	.	1693	Q92616	GCN1L_HUMAN	I	1693	ENSP00000300648:F1693I	ENSP00000300648:F1693I	F	-	1	0	GCN1L1	119067188	1.000000	0.71417	0.999000	0.59377	0.937000	0.57800	9.043000	0.93799	2.219000	0.72066	0.533000	0.62120	TTT		0.587	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1			
GOLGA6L3	100133220	broad.mit.edu	37	15	83014106	83014106	+	Silent	SNP	T	T	C	rs62009901		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr15:83014106T>C	ENST00000557886.1	-	6	576	c.477A>G	c.(475-477)gtA>gtG	p.V159V															p.V159V(12)		endometrium(6)|kidney(5)|prostate(1)	12						GTAGCTGCTCTACCTTAGATG	0.498																																																	12	Substitution - coding silent(12)	kidney(6)|endometrium(4)|prostate(2)																																								SO:0001819	synonymous_variant	647042																														ENST00000557886.1:c.477A>G	15.37:g.83014106T>C				Silent	SNP	ENST00000557886.1	37																																																																																					0.498	RP13-996F3.4-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419277.1			
GOLGA6L17P	642402	broad.mit.edu	37	15	85053188	85053188	+	RNA	SNP	C	C	G	rs201559925	byFrequency	TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr15:85053188C>G	ENST00000414190.2	-	0	264					NR_003246.2																						CCCTGTTCTCCGCAGCCCGAA	0.488																																																	0																																												374650																															15.37:g.85053188C>G				RNA	SNP	ENST00000414190.2	37																																																																																					0.488	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			
HOXA11-AS	221883	broad.mit.edu	37	7	27228484	27228484	+	RNA	DEL	A	A	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:27228484delA	ENST00000522863.1	+	0	1421				HOXA11-AS_ENST00000479766.1_RNA|RP1-170O19.14_ENST00000523331.1_lincRNA|HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522674.1_RNA|HOXA11-AS_ENST00000520395.1_RNA					HOXA11 antisense RNA																		GCAAGAGGCCAAAAAATGTTT	0.552																																																	0																																												0					7p15.2	2012-10-19	2012-08-15	2012-03-14	ENSG00000240990	ENSG00000240990		"""Long non-coding RNAs"", ""-"""	24957	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 76"", ""HOXA cluster antisense RNA 5 (non-protein coding)"", ""HOXA11 antisense RNA 1 (non-protein coding)"""	607530	"""homeobox A11 antisense"", ""HOXA11 antisense RNA (non-protein coding)"""	HOXA11AS		9745033, 12050232	Standard	NR_002795		Approved	HOXA11-AS1, HOXA11S, HOXA-AS5, NCRNA00076			OTTHUMG00000158205		7.37:g.27228484delA				RNA	DEL	ENST00000522863.1	37																																																																																					0.552	HOXA11-AS-006	KNOWN	not_organism_supported|not_organism_supported|basic|exp_conf	antisense	antisense	OTTHUMT00000317662.1		NR_002795	
INHBB	3625	hgsc.bcm.edu	37	2	121107175	121107176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr2:121107175_121107176insG	ENST00000295228.3	+	2	995_996	c.949_950insG	c.(949-951)tggfs	p.W317fs		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	317					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CCTCATCGGCTGGAACGACTGG	0.624																																																	0																																										SO:0001589	frameshift_variant	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.951dupG	2.37:g.121107177_121107177dupG	ENSP00000295228:p.Trp317fs		Q53T31|Q8N1D3	Frame_Shift_Ins	INS	ENST00000295228.3	37	CCDS2132.1																																																																																				0.624	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254234.1			
ITGA6	3655	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	173354250	173354250	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr2:173354250C>A	ENST00000264106.6	+	21	2863	c.2660C>A	c.(2659-2661)aCa>aAa	p.T887K	ITGA6_ENST00000409532.1_Missense_Mutation_p.T729K|ITGA6_ENST00000343713.4_Missense_Mutation_p.T843K|ITGA6_ENST00000409080.1_Missense_Mutation_p.T848K|ITGA6_ENST00000264107.7_Missense_Mutation_p.T848K|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000375221.2_Missense_Mutation_p.T887K			P23229	ITA6_HUMAN	integrin, alpha 6	887					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.T848K(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AACCTCGGCACAGCAACCTTG	0.343																																																	2	Substitution - Missense(2)	kidney(2)											91.0	93.0	92.0					2																	173354250		2203	4300	6503	SO:0001583	missense	3655				CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.2660C>A	2.37:g.173354250C>A	ENSP00000264106:p.Thr887Lys		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37		.	.	.	.	.	.	.	.	.	.	C	14.19	2.461787	0.43736	.	.	ENSG00000091409	ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.36	5.36	0.76844	.	0.142523	0.64402	D	0.000008	T	0.43567	0.1253	L	0.53729	1.69	0.49687	D	0.999812	B;B;B;B	0.11235	0.001;0.004;0.002;0.002	B;B;B;B	0.17979	0.004;0.008;0.008;0.02	T	0.25117	-1.0141	10	0.38643	T	0.18	.	19.1083	0.93305	0.0:1.0:0.0:0.0	.	843;887;848;848	P23229-4;P23229-9;G5E9H1;P23229-2	.;.;.;.	K	729;848;887;887;843;848;887;843	ENSP00000386614:T729K;ENSP00000264107:T848K;ENSP00000264106:T887K;ENSP00000364369:T887K;ENSP00000341078:T843K;ENSP00000386896:T848K;ENSP00000406694:T887K;ENSP00000394169:T843K	ENSP00000264106:T887K	T	+	2	0	ITGA6	173062496	0.001000	0.12720	0.999000	0.59377	0.989000	0.77384	0.725000	0.25970	2.520000	0.84964	0.591000	0.81541	ACA		0.343	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				
KIF3A	11127	hgsc.bcm.edu;ucsc.edu	37	5	132070046	132070062	+	Frame_Shift_Del	DEL	CCCCTCATCTCATCCAC	CCCCTCATCTCATCCAC	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	CCCCTCATCTCATCCAC	CCCCTCATCTCATCCAC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr5:132070046_132070062delCCCCTCATCTCATCCAC	ENST00000378746.4	-	2	333_349	c.115_131delGTGGATGAGATGAGGGG	c.(115-132)gtggatgagatgaggggafs	p.VDEMRG39fs	KIF3A_ENST00000403231.1_Frame_Shift_Del_p.VDEMRG39fs|KIF3A_ENST00000378735.1_Frame_Shift_Del_p.VDEMRG39fs	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	39	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterior/posterior pattern specification (GO:0009952)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|dorsal/ventral neural tube patterning (GO:0021904)|epidermal stem cell homeostasis (GO:0036334)|epidermis development (GO:0008544)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|inner ear receptor stereocilium organization (GO:0060122)|kidney development (GO:0001822)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|organelle organization (GO:0006996)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of receptor-mediated endocytosis (GO:0048260)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|neuron projection (GO:0043005)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|spectrin binding (GO:0030507)	p.E41Q(1)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTGATAGTTCCCCTCATCTCATCCACACTGACAGCC	0.415																																																	1	Substitution - Missense(1)	pancreas(1)																																								SO:0001589	frameshift_variant	11127			AF041853	CCDS34235.1, CCDS75295.1, CCDS75296.1	5q31	2012-08-01			ENSG00000131437	ENSG00000131437		"""Kinesins"""	6319	protein-coding gene	gene with protein product	"""kinesin family protein 3A"""	604683				1054846	Standard	XM_005271868		Approved	FLA10, KLP-20	uc003kxo.3	Q9Y496	OTTHUMG00000059725	ENST00000378746.4:c.115_131delGTGGATGAGATGAGGGG	5.37:g.132070046_132070062delCCCCTCATCTCATCCAC	ENSP00000368020:p.Val39fs		A8MSW9|Q59EN1|Q86XE9|Q9Y6V4	Frame_Shift_Del	DEL	ENST00000378746.4	37	CCDS34235.1																																																																																				0.415	KIF3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132788.3		NM_007054	
KIF3B	9371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	30898421	30898421	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr20:30898421G>T	ENST00000375712.3	+	2	1008	c.841G>T	c.(841-843)Gct>Tct	p.A281S	KIF3B_ENST00000418717.2_5'UTR	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	281	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)	p.A281S(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGTCATCTCTGCTCTAGTGGA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											91.0	85.0	87.0					20																	30898421		2203	4300	6503	SO:0001583	missense	9371			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.841G>T	20.37:g.30898421G>T	ENSP00000364864:p.Ala281Ser		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	ENST00000375712.3	37	CCDS13200.1	.	.	.	.	.	.	.	.	.	.	G	18.44	3.625510	0.66901	.	.	ENSG00000101350	ENST00000375712	T	0.76839	-1.05	4.52	4.52	0.55395	Kinesin, motor domain (3);	0.053679	0.64402	D	0.000001	D	0.83464	0.5260	L	0.53249	1.67	0.80722	D	1	B;P	0.39352	0.18;0.669	P;P	0.53549	0.538;0.729	D	0.84350	0.0532	10	0.52906	T	0.07	.	17.4488	0.87586	0.0:0.0:1.0:0.0	.	281;281	B4DYF2;O15066	.;KIF3B_HUMAN	S	281	ENSP00000364864:A281S	ENSP00000364864:A281S	A	+	1	0	KIF3B	30362082	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	7.753000	0.85153	2.336000	0.79503	0.462000	0.41574	GCT		0.517	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078619.1		NM_004798	
MAGED2	10916	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	54839919	54839919	+	Splice_Site	SNP	A	A	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:54839919A>G	ENST00000375068.1	+	10	1441		c.e10-1		MAGED2_ENST00000218439.4_Splice_Site|MAGED2_ENST00000375058.1_Splice_Site|MAGED2_ENST00000375062.4_Splice_Site|MAGED2_ENST00000396224.1_Splice_Site|SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000347546.4_Splice_Site|MAGED2_ENST00000375060.1_Splice_Site|MAGED2_ENST00000375053.2_Splice_Site			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2							membrane (GO:0016020)		p.?(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						TTCTTCTCTCAGGATACATCA	0.408																																																	1	Unknown(1)	kidney(1)											107.0	88.0	94.0					X																	54839919		2203	4300	6503	SO:0001630	splice_region_variant	10916			AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1209-1A>G	X.37:g.54839919A>G			A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Splice_Site	SNP	ENST00000375068.1	37	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	A	13.31	2.199819	0.38905	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9968	0.58650	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAGED2	54856644	1.000000	0.71417	0.907000	0.35723	0.580000	0.36256	6.396000	0.73234	1.871000	0.54225	0.486000	0.48141	.		0.408	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2		NM_014599	Intron
MYO18A	399687	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27438794	27438794	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr17:27438794T>C	ENST00000527372.1	-	16	2866	c.2686A>G	c.(2686-2688)Acc>Gcc	p.T896A	MYO18A_ENST00000531253.1_Missense_Mutation_p.T896A|MYO18A_ENST00000354329.4_Missense_Mutation_p.T896A|MYO18A_ENST00000533112.1_Missense_Mutation_p.T896A	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	896	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)	p.T896A(2)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCAGGAGGGTGTCCTCACTG	0.592											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)												2	Substitution - Missense(2)	kidney(2)											37.0	44.0	42.0					17																	27438794		1893	4103	5996	SO:0001583	missense	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2686A>G	17.37:g.27438794T>C	ENSP00000437073:p.Thr896Ala	794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393675	0.25205	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000458428	D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3	5.42	-10.8	0.00216	Myosin head, motor domain (2);	0.497841	0.23821	N	0.044228	T	0.79076	0.4385	M	0.62154	1.92	0.09310	N	0.999994	B;B;B;B;B	0.10296	0.001;0.001;0.003;0.001;0.001	B;B;B;B;B	0.12837	0.004;0.002;0.007;0.006;0.008	T	0.50742	-0.8792	10	0.30078	T	0.28	.	12.7293	0.57189	0.0749:0.4563:0.0:0.4688	.	565;508;896;896;896	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	A	896;896;896;896;896;508	ENSP00000346291:T896A;ENSP00000435932:T896A;ENSP00000434228:T896A;ENSP00000437073:T896A	ENSP00000346291:T896A	T	-	1	0	MYO18A	24462920	0.000000	0.05858	0.006000	0.13384	0.793000	0.44817	-0.347000	0.07750	-2.642000	0.00428	-2.040000	0.00418	ACC		0.592	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1		NM_078471	
MYO3A	53904	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	26377305	26377305	+	Silent	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr10:26377305G>T	ENST00000265944.5	+	15	1699	c.1533G>T	c.(1531-1533)ctG>ctT	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L511L(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATATCTCCTGGAAAAATCCC	0.343																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	63.0	62.0					10																	26377305		2203	4300	6503	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.1533G>T	10.37:g.26377305G>T			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	ENST00000265944.5	37	CCDS7148.1																																																																																				0.343	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1		NM_017433	
NOD1	10392	hgsc.bcm.edu	37	7	30494802	30494803	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:30494802_30494803insA	ENST00000222823.4	-	5	851_852	c.326_327insT	c.(325-327)ttcfs	p.F109fs	NOD1_ENST00000423334.2_Frame_Shift_Ins_p.F109fs	NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	109					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-8 biosynthetic process (GO:0042228)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of tumor necrosis factor production (GO:0032760)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|identical protein binding (GO:0042802)|peptidoglycan binding (GO:0042834)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GGGAAGGGGAGAAGCCGATCTC	0.609																																																	0																																										SO:0001589	frameshift_variant	10392			AF126484	CCDS5427.1	7p15-p14	2006-12-08	2006-12-08	2006-12-08	ENSG00000106100	ENSG00000106100		"""Nucleotide-binding domain and leucine rich repeat containing"""	16390	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 1"", ""NLR family, CARD domain containing 1"""	605980	"""caspase recruitment domain family, member 4"""	CARD4		10224040, 10329646	Standard	NM_006092		Approved	NLRC1, CLR7.1	uc003tav.3	Q9Y239	OTTHUMG00000023923	ENST00000222823.4:c.327dupT	7.37:g.30494804_30494804dupA	ENSP00000222823:p.Phe109fs		B4DTU3|Q549U4|Q8IWF5	Frame_Shift_Ins	INS	ENST00000222823.4	37	CCDS5427.1																																																																																				0.609	NOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250443.2			
OR2T12	127064	broad.mit.edu	37	1	248458511	248458511	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:248458511C>A	ENST00000317996.1	-	1	369	c.370G>T	c.(370-372)Gtc>Ttc	p.V124F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V124F(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GGGTGGCAGACAGCCGCATAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											9.0	10.0	9.0					1																	248458511		2150	4219	6369	SO:0001583	missense	127064			BK004485	CCDS31110.1	1q44	2012-08-09			ENSG00000177201	ENSG00000177201		"""GPCR / Class A : Olfactory receptors"""	19592	protein-coding gene	gene with protein product							Standard	NM_001004692		Approved		uc010pzj.2	Q8NG77	OTTHUMG00000040457	ENST00000317996.1:c.370G>T	1.37:g.248458511C>A	ENSP00000324583:p.Val124Phe			Missense_Mutation	SNP	ENST00000317996.1	37	CCDS31110.1	.	.	.	.	.	.	.	.	.	.	c	15.38	2.816818	0.50633	.	.	ENSG00000177201	ENST00000317996	T	0.49720	0.77	1.55	-0.996	0.10218	GPCR, rhodopsin-like superfamily (1);	0.539931	0.13808	U	0.361336	T	0.58395	0.2119	M	0.80746	2.51	0.33637	D	0.606824	D	0.56287	0.975	P	0.58210	0.835	T	0.65376	-0.6183	10	0.87932	D	0	.	5.5049	0.16848	0.0:0.221:0.0:0.779	.	124	Q8NG77	O2T12_HUMAN	F	124	ENSP00000324583:V124F	ENSP00000324583:V124F	V	-	1	0	OR2T12	246525134	0.823000	0.29233	0.022000	0.16811	0.124000	0.20399	1.540000	0.36115	-0.207000	0.10187	0.175000	0.17021	GTC		0.617	OR2T12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097353.1		NM_001004692	
OR5R1	219479	broad.mit.edu;ucsc.edu	37	11	56185258	56185258	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr11:56185258A>G	ENST00000312253.1	-	1	450	c.451T>C	c.(451-453)Tac>Cac	p.Y151H		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	151						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y151H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					AGGAAGCTGTATATATATGGA	0.453																																																	1	Substitution - Missense(1)	kidney(1)											107.0	109.0	108.0					11																	56185258		2201	4296	6497	SO:0001583	missense	219479			AB065504	CCDS31530.1	11q11	2012-08-09		2004-03-10	ENSG00000174942	ENSG00000174942		"""GPCR / Class A : Olfactory receptors"""	14841	protein-coding gene	gene with protein product				OR5R1P			Standard	NM_001004744		Approved		uc010rji.2	Q8NH85	OTTHUMG00000154219	ENST00000312253.1:c.451T>C	11.37:g.56185258A>G	ENSP00000308595:p.Tyr151His			Missense_Mutation	SNP	ENST00000312253.1	37	CCDS31530.1	.	.	.	.	.	.	.	.	.	.	A	11.90	1.775599	0.31411	.	.	ENSG00000174942	ENST00000312253	T	0.38077	1.16	5.91	3.41	0.39046	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30269	U	0.010013	T	0.61739	0.2371	M	0.87269	2.87	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.53725	-0.8398	10	0.40728	T	0.16	-15.5217	12.6112	0.56552	0.7648:0.2351:0.0:0.0	.	151	Q8NH85	OR5R1_HUMAN	H	151	ENSP00000308595:Y151H	ENSP00000308595:Y151H	Y	-	1	0	OR5R1	55941834	0.000000	0.05858	0.921000	0.36526	0.017000	0.09413	0.080000	0.14802	2.265000	0.75225	0.472000	0.43445	TAC		0.453	OR5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334444.1		NM_001004744	
POLB	5423	hgsc.bcm.edu	37	8	42196541	42196541	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr8:42196541delT	ENST00000265421.4	+	2	243	c.73delT	c.(73-75)tttfs	p.F25fs	POLB_ENST00000538005.1_Intron|POLB_ENST00000530566.1_Intron	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	25					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neuron apoptotic process (GO:0051402)|pyrimidine dimer repair (GO:0006290)|response to ethanol (GO:0045471)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|enzyme binding (GO:0019899)|lyase activity (GO:0016829)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCGCAAACTTTGAGAAGAA	0.478								DNA polymerases (catalytic subunits)																																									0													111.0	89.0	97.0					8																	42196541		2203	4300	6503	SO:0001589	frameshift_variant	5423				CCDS6129.1	8p12-p11	2012-10-02			ENSG00000070501	ENSG00000070501	2.7.7.7	"""DNA polymerases"""	9174	protein-coding gene	gene with protein product		174760					Standard	NM_002690		Approved		uc003xoz.2	P06746	OTTHUMG00000164093	ENST00000265421.4:c.73delT	8.37:g.42196541delT	ENSP00000265421:p.Phe25fs		B2RC78|Q3KP48|Q6FI34	Frame_Shift_Del	DEL	ENST00000265421.4	37	CCDS6129.1																																																																																				0.478	POLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377242.1		NM_002690	
RAP1A	5906	hgsc.bcm.edu;ucsc.edu	37	1	112247019	112247019	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:112247019delG	ENST00000369709.3	+	6	558	c.379delG	c.(379-381)ggcfs	p.G127fs	RAP1A_ENST00000545460.1_Frame_Shift_Del_p.G127fs|RAP1A_ENST00000356415.1_Frame_Shift_Del_p.G127fs|RAP1A_ENST00000436150.2_Frame_Shift_Del_p.G127fs|RAP1A_ENST00000494982.1_3'UTR	NM_002884.2	NP_002875.1	P62834	RAP1A_HUMAN	RAP1A, member of RAS oncogene family	127					activation of MAPKK activity (GO:0000186)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of vasculogenesis (GO:2001214)|protein transport (GO:0015031)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|guanyl-nucleotide exchange factor complex (GO:0032045)|late endosome (GO:0005770)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		GCGAGTAGTTGGCAAAGAGCA	0.383																																																	0													107.0	100.0	102.0					1																	112247019		2203	4300	6503	SO:0001589	frameshift_variant	5906			BC014086	CCDS840.1	1p13.3	2014-05-09			ENSG00000116473	ENSG00000116473			9855	protein-coding gene	gene with protein product		179520				3143720	Standard	XM_006710803		Approved	KREV-1, SMGP21	uc001ebl.3	P62834	OTTHUMG00000011959	ENST00000369709.3:c.379delG	1.37:g.112247019delG	ENSP00000358723:p.Gly127fs		P10113	Frame_Shift_Del	DEL	ENST00000369709.3	37	CCDS840.1																																																																																				0.383	RAP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033071.1		NM_002884	
RDM1	201299	broad.mit.edu;hgsc.bcm.edu	37	17	34257122	34257122	+	Missense_Mutation	SNP	C	C	G	rs145918765		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr17:34257122C>G	ENST00000293273.6	-	2	279	c.234G>C	c.(232-234)aaG>aaC	p.K78N	RDM1_ENST00000394529.3_Missense_Mutation_p.K55N|RDM1_ENST00000394527.1_Missense_Mutation_p.K55N|RDM1_ENST00000394528.3_Missense_Mutation_p.K78N|RDM1_ENST00000430160.2_Missense_Mutation_p.K55N|RDM1_ENST00000419453.2_Missense_Mutation_p.K55N|RDM1_ENST00000431884.2_Missense_Mutation_p.K78N|RDM1_ENST00000591402.1_Missense_Mutation_p.K55N|RDM1_ENST00000425909.3_Missense_Mutation_p.K78N	NM_145654.3	NP_663629.1	Q8NG50	RDM1_HUMAN	RAD52 motif containing 1	78	Necessary for nuclear localization and for nucleolar accumulation in response to heat shock.|RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.K78N(2)		breast(1)|kidney(3)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)	9		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GGTCGCATGCCTTTTGGGCTC	0.473								Other identified genes with known or suspected DNA repair function																																									2	Substitution - Missense(2)	kidney(2)											113.0	124.0	120.0					17																	34257122		2203	4300	6503	SO:0001583	missense	201299			AB080728	CCDS11301.1, CCDS42299.1, CCDS54111.1, CCDS54108.1, CCDS54109.1, CCDS54110.1, CCDS59280.1, CCDS59281.1	17q11.2	2014-04-10	2014-04-10	2005-10-20	ENSG00000187456	ENSG00000278023		"""RNA binding motif (RRM) containing"""	19950	protein-coding gene	gene with protein product		612896	"""RAD52 homolog B (S. cerevisiae)"", ""RAD52 motif 1"""	RAD52B		15611051	Standard	NM_001163120		Approved	MGC33977	uc002hkh.3	Q8NG50	OTTHUMG00000188399	ENST00000293273.6:c.234G>C	17.37:g.34257122C>G	ENSP00000293273:p.Lys78Asn		A0JP55|A8MV46|A8MY68|A8MZ92|A8RCS5|A8RCT0|A8RCT5|A8RCT8|A8RCU3|A8RCU8|A8RCW0|A8RCW5	Missense_Mutation	SNP	ENST00000293273.6	37	CCDS11301.1	.	.	.	.	.	.	.	.	.	.	C	10.24	1.294912	0.23564	.	.	ENSG00000187456	ENST00000293273;ENST00000394529;ENST00000431884;ENST00000425909;ENST00000436836;ENST00000430160;ENST00000394528;ENST00000394527	T;T;T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31;2.31;2.31	3.64	0.363	0.16118	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.386614	0.26352	N	0.024880	T	0.26412	0.0645	M	0.65975	2.015	0.09310	N	1	D;P;D;P;D;P;D;D;D	0.56287	0.968;0.646;0.96;0.763;0.96;0.914;0.968;0.975;0.96	P;B;P;B;P;B;P;P;P	0.57679	0.773;0.214;0.663;0.288;0.663;0.395;0.697;0.825;0.663	T	0.06023	-1.0850	10	0.49607	T	0.09	-0.08	5.0802	0.14653	0.0:0.6172:0.1734:0.2094	.	55;55;78;78;55;55;78;78;55	B4DZ74;Q8NG50-4;Q8NG50-5;Q8NG50-10;Q8NG50-2;Q8NG50-11;A8MY68;Q8NG50;Q8NG50-6	.;.;.;.;.;.;.;RDM1_HUMAN;.	N	78;55;78;78;78;55;78;55	ENSP00000293273:K78N;ENSP00000378037:K55N;ENSP00000391290:K78N;ENSP00000393620:K78N;ENSP00000397431:K78N;ENSP00000413421:K55N;ENSP00000378036:K78N;ENSP00000378035:K55N	ENSP00000293273:K78N	K	-	3	2	RDM1	31281235	0.002000	0.14202	0.000000	0.03702	0.210000	0.24377	-0.577000	0.05847	0.023000	0.15187	0.655000	0.94253	AAG		0.473	RDM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256588.2		NM_145654	
REST	5978	hgsc.bcm.edu	37	4	57797283	57797283	+	Missense_Mutation	SNP	G	G	A	rs544207693	byFrequency	TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr4:57797283G>A	ENST00000309042.7	+	4	2573	c.2259G>A	c.(2257-2259)atG>atA	p.M753I		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	753	Pro-rich.				cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|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 transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.M753_P768delMEVVQKEPVKIELSPP(1)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTCCTCCCATGGAGGTGGTCC	0.562													G|||	37	0.00738818	0.0061	0.0014	5008	,	,		17837	0.0069		0.0159	False		,,,				2504	0.0051																1	Deletion - In frame(1)	central_nervous_system(1)											255.0	269.0	264.0					4																	57797283		2202	4300	6502	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.2259G>A	4.37:g.57797283G>A	ENSP00000311816:p.Met753Ile		A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	ENST00000309042.7	37	CCDS3509.1	.	.	.	.	.	.	.	.	.	.	G	4.038	0.004725	0.07866	.	.	ENSG00000084093	ENST00000309042;ENST00000358605	T	0.07908	3.15	2.74	0.984	0.19773	.	.	.	.	.	T	0.07143	0.0181	L	0.44542	1.39	0.09310	N	1	B;B	0.24426	0.103;0.038	B;B	0.16289	0.015;0.006	T	0.34129	-0.9841	9	0.35671	T	0.21	0.1743	6.7945	0.23717	0.2523:0.0:0.7477:0.0	.	730;753	F8WAN5;Q13127	.;REST_HUMAN	I	753;730	ENSP00000311816:M753I	ENSP00000311816:M753I	M	+	3	0	REST	57492040	0.099000	0.21834	0.001000	0.08648	0.059000	0.15707	0.297000	0.19101	0.222000	0.20900	0.491000	0.48974	ATG		0.562	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250691.2		NM_005612	
RP1L1	94137	hgsc.bcm.edu	37	8	10466019	10466019	+	Silent	SNP	A	A	T	rs199959237|rs535482422|rs199577777	byFrequency	TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr8:10466019A>T	ENST00000382483.3	-	4	5812	c.5589T>A	c.(5587-5589)gcT>gcA	p.A1863A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1943					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCCCTTCAGCCTCCTGGG	0.627																																																	0													157.0	156.0	156.0					8																	10466019		1904	4108	6012	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5589T>A	8.37:g.10466019A>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	ENST00000382483.3	37	CCDS43708.1																																																																																				0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
RPS26	6231	broad.mit.edu;hgsc.bcm.edu	37	12	56436231	56436231	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr12:56436231G>A	ENST00000356464.5	+	2	340	c.26G>A	c.(25-27)gGt>gAt	p.G9D	RPS26_ENST00000552361.1_Missense_Mutation_p.G9D|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	9					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.G9D(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AGGAACAATGGTCGTGCCAAA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											48.0	44.0	45.0					12																	56436231		2203	4300	6503	SO:0001583	missense	6231			AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.26G>A	12.37:g.56436231G>A	ENSP00000348849:p.Gly9Asp		P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Missense_Mutation	SNP	ENST00000356464.5	37	CCDS31832.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860181	0.91433	.	.	ENSG00000197728	ENST00000356464;ENST00000552361	D;D	0.95238	-3.65;-3.65	4.7	4.7	0.59300	.	0.000000	0.64402	U	0.000001	D	0.94558	0.8247	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.95441	0.8525	10	0.66056	D	0.02	.	16.9028	0.86117	0.0:0.0:1.0:0.0	.	9	P62854	RS26_HUMAN	D	9	ENSP00000348849:G9D;ENSP00000450339:G9D	ENSP00000348849:G9D	G	+	2	0	RPS26	54722498	1.000000	0.71417	0.910000	0.35882	0.584000	0.36387	9.209000	0.95087	2.589000	0.87451	0.563000	0.77884	GGT		0.547	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1		NM_001029	
RYR2	6262	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	237791209	237791209	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:237791209G>A	ENST00000366574.2	+	41	6586	c.6269G>A	c.(6268-6270)cGg>cAg	p.R2090Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				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)	p.R2088Q(1)		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)			TTGCTCCATCGGCAGTATGAC	0.557																																																	1	Substitution - Missense(1)	kidney(1)											73.0	72.0	72.0					1																	237791209		1981	4151	6132	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.6269G>A	1.37:g.237791209G>A	ENSP00000355533:p.Arg2090Gln		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822115	0.90873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98474	-4.95;-4.93;-4.95	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000016	D	0.99105	0.9692	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99433	1.0936	10	0.62326	D	0.03	.	19.0363	0.92980	0.0:0.0:1.0:0.0	.	2090	Q92736	RYR2_HUMAN	Q	2090;2088;2074	ENSP00000355533:R2090Q;ENSP00000353174:R2088Q;ENSP00000443798:R2074Q	ENSP00000353174:R2088Q	R	+	2	0	RYR2	235857832	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.811000	0.86092	2.571000	0.86741	0.591000	0.81541	CGG		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2		NM_001035	
SH3BP5L	80851	broad.mit.edu	37	1	249106452	249106452	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:249106452C>T	ENST00000366472.5	-	7	2058	c.829G>A	c.(829-831)Ggg>Agg	p.G277R	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.G245R	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	277								p.G277R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			GGCAGACCCCCGCGGCGCCGT	0.692																																																	1	Substitution - Missense(1)	kidney(1)											28.0	31.0	30.0					1																	249106452		2203	4300	6503	SO:0001583	missense	80851			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.829G>A	1.37:g.249106452C>T	ENSP00000355428:p.Gly277Arg		B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Missense_Mutation	SNP	ENST00000366472.5	37	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	2.609	-0.291276	0.05568	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	0.427	0.427	0.16489	.	0.125966	0.53938	D	0.000057	T	0.29288	0.0729	L	0.34521	1.04	0.31456	N	0.67015	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.23868	-1.0176	8	0.15952	T	0.53	-38.8819	.	.	.	.	245;170;277;135	B4DQ94;B4DSF1;Q7L8J4;Q96MW4	.;.;3BP5L_HUMAN;.	R	277;245	.	ENSP00000355428:G277R	G	-	1	0	SH3BP5L	247073075	0.974000	0.33945	0.991000	0.47740	0.509000	0.34042	0.441000	0.21611	0.458000	0.26988	0.467000	0.42956	GGG		0.692	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1		NM_030645	
SLC17A1	6568	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	25830753	25830753	+	Splice_Site	SNP	T	T	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr6:25830753T>C	ENST00000244527.4	-	2	148	c.33A>G	c.(31-33)aaA>aaG	p.K11K	SLC17A1_ENST00000427328.1_Splice_Site_p.K11K|SLC17A1_ENST00000468082.1_Splice_Site_p.K11K|SLC17A1_ENST00000476801.1_Splice_Site_p.K11K	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	11					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)	p.K11K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AAGTGCTACCTTTTTTGGGAG	0.403																																																	1	Substitution - coding silent(1)	kidney(1)											186.0	175.0	178.0					6																	25830753		2203	4300	6503	SO:0001630	splice_region_variant	6568				CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.34+1A>G	6.37:g.25830753T>C			A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Silent	SNP	ENST00000244527.4	37	CCDS4565.1																																																																																				0.403	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			Silent
STAG3L2	442582	broad.mit.edu	37	7	74298857	74298857	+	RNA	SNP	T	T	C	rs1635764		TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:74298857T>C	ENST00000423186.1	-	0	1055							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTCTCCTGCATATCACCCAGG	0.567																																																	0																																												442582					7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74298857T>C			A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	SNP	ENST00000423186.1	37																																																																																					0.567	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2		NM_001025202	
TAF7L	54457	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	100524198	100524198	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:100524198G>A	ENST00000372907.3	-	13	1383	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	TAF7L_ENST00000372905.2_Missense_Mutation_p.R298C|TAF7L_ENST00000356784.1_Missense_Mutation_p.R372C|TAF7L_ENST00000324762.6_Missense_Mutation_p.R298C	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	458			R -> H (in dbSNP:rs41310729). {ECO:0000269|PubMed:16597641, ECO:0000269|PubMed:17714218}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)		p.R458C(2)		NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTCAGAAAACGCTGCAACTGT	0.438																																					Ovarian(104;431 1530 3210 15406 18594)												2	Substitution - Missense(2)	upper_aerodigestive_tract(1)|kidney(1)											174.0	153.0	160.0					X																	100524198		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1372C>T	X.37:g.100524198G>A	ENSP00000361998:p.Arg458Cys		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	ENST00000372907.3	37	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	G	0.986	-0.695613	0.03279	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.22743	2.53;1.94;1.94;1.95	4.33	-0.0451	0.13853	.	1.843890	0.03075	N	0.157777	T	0.06325	0.0163	N	0.00621	-1.32	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.18871	-1.0323	10	0.39692	T	0.17	4.5082	1.9746	0.03413	0.447:0.309:0.0917:0.1523	.	458;298	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	C	458;298;298;372	ENSP00000361998:R458C;ENSP00000361996:R298C;ENSP00000320283:R298C;ENSP00000349235:R372C	ENSP00000320283:R298C	R	-	1	0	TAF7L	100410854	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	0.468000	0.22051	-0.256000	0.09473	-0.505000	0.04504	CGT		0.438	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			
Unknown	0	broad.mit.edu	37	9	70182347	70182347	+	IGR	DEL	T	T	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr9:70182347delT								FOXD4L5 (3532 upstream) : FOXD4L4 (244275 downstream)																							CTGTGTATTGTTTTTTTTTTG	0.244																																																	0																																										SO:0001628	intergenic_variant	0																															9.37:g.70182347delT				RNA	DEL		37																																																																																				0	0.244									
TUBBP5	643224	broad.mit.edu	37	9	141071078	141071078	+	RNA	SNP	A	A	G	rs201043758	byFrequency	TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr9:141071078A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.M233V(7)									GTCTGCTACCATGAGTGGGGT	0.552																																																	7	Substitution - Missense(7)	endometrium(4)|kidney(2)|ovary(1)																																										643224			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071078A>G				Missense_Mutation	SNP	ENST00000503395.1	37																																																																																					0.552	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1		NR_027156	
VHL	7428	hgsc.bcm.edu	37	3	10183614	10183614	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4162-01A-02W-1382-10	TCGA-BP-4162-11A-01W-1244-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina MiSeq	c637a3a7-a6a3-4a16-88ce-c25fd22866ee	ca28ed39-29d1-4e3d-9a48-5385d4dd85c3	g.chr3:10183614A>G	ENST00000256474.2	+	1	923	c.83A>G	c.(82-84)gAc>gGc	p.D28G	VHL_ENST00000345392.2_Missense_Mutation_p.D28G|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	28	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.D28V(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCTGAAGAAGACGGCGGGGAG	0.736		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	1	Substitution - Missense(1)	kidney(1)											10.0	13.0	12.0					3																	10183614		1939	3851	5790	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.83A>G	3.37:g.10183614A>G	ENSP00000256474:p.Asp28Gly		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	A	3.150	-0.174515	0.06421	.	.	ENSG00000134086	ENST00000256474;ENST00000345392;ENST00000450183	D;D	0.81908	-1.55;-1.55	3.41	-6.81	0.01704	.	2.172090	0.02653	N	0.106672	T	0.61664	0.2365	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54801	-0.8239	10	0.30854	T	0.27	-3.589	2.7188	0.05195	0.181:0.4544:0.1816:0.183	.	28;28	P40337-2;P40337	.;VHL_HUMAN	G	28	ENSP00000256474:D28G;ENSP00000344757:D28G	ENSP00000256474:D28G	D	+	2	0	VHL	10158614	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-1.052000	0.03503	-3.113000	0.00241	-0.995000	0.02519	GAC		0.736	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
VHL	7428	hgsc.bcm.edu	37	3	10183797	10183797	+	Missense_Mutation	SNP	T	T	A	rs5030807		TCGA-BP-4162-01A-02W-1382-10	TCGA-BP-4162-11A-01W-1244-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PacBio	.		Illumina MiSeq	c637a3a7-a6a3-4a16-88ce-c25fd22866ee	ca28ed39-29d1-4e3d-9a48-5385d4dd85c3	g.chr3:10183797T>A	ENST00000256474.2	+	1	1106	c.266T>A	c.(265-267)cTc>cAc	p.L89H	VHL_ENST00000345392.2_Missense_Mutation_p.L89H|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	89			L -> H (in lung cancer).|L -> P (in VHLD; type I; dbSNP:rs5030807). {ECO:0000269|PubMed:8956040}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L89H(11)|p.L89P(6)|p.L89R(3)|p.R60fs*35(1)|p.V84_E94>E(1)|p.V84fs*69(1)|p.L89fs*67(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CCCGTATGGCTCAACTTCGAC	0.726	L89H(NCIH28_PLEURA)	1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																													.	yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	24	Substitution - Missense(20)|Deletion - Frameshift(3)|Complex - deletion inframe(1)	kidney(22)|pancreas(1)|pleura(1)	GRCh37	CM941368	VHL	M	rs5030807						13.0	16.0	15.0					3																	10183797		2106	4156	6262	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.266T>A	3.37:g.10183797T>A	ENSP00000256474:p.Leu89His		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.986585	0.93106	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99815	-6.9;-6.9	5.06	5.06	0.68205	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.185584	0.46442	D	0.000292	D	0.99576	0.9847	L	0.41492	1.28	0.33129	D	0.542832	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.957	D	0.97755	1.0217	10	0.87932	D	0	-8.4916	12.8448	0.57823	0.0:0.0:0.0:1.0	.	89;89	P40337-2;P40337	.;VHL_HUMAN	H	89	ENSP00000256474:L89H;ENSP00000344757:L89H	ENSP00000256474:L89H	L	+	2	0	VHL	10158797	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	4.914000	0.63348	1.920000	0.55613	0.450000	0.29827	CTC		0.726	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
USP4	7375	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49373006	49373006	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr3:49373006A>C	ENST00000265560.4	-	2	171	c.125T>G	c.(124-126)tTc>tGc	p.F42C	USP4_ENST00000351842.4_Missense_Mutation_p.F42C|USP4_ENST00000415188.1_Missense_Mutation_p.F42C|USP4_ENST00000416417.1_Missense_Mutation_p.F42C	NM_003363.3	NP_003354.2	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	42	DUSP. {ECO:0000255|PROSITE- ProRule:PRU00613}.|Necessary for interaction with SART3. {ECO:0000269|PubMed:20595234}.				negative regulation of protein ubiquitination (GO:0031397)|protein deubiquitination (GO:0016579)|protein localization to cell surface (GO:0034394)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adenosine receptor binding (GO:0031685)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.F42C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CCACTGCTTGAACCACCGGCT	0.413																																																	1	Substitution - Missense(1)	kidney(1)											120.0	109.0	113.0					3																	49373006		2203	4300	6503	SO:0001583	missense	7375			U20657	CCDS2793.1, CCDS2794.1, CCDS58832.1	3p21.3	2005-10-11	2005-08-08		ENSG00000114316	ENSG00000114316		"""Ubiquitin-specific peptidases"""	12627	protein-coding gene	gene with protein product		603486	"""ubiquitin specific protease 4 (proto-oncogene)"""	UNP		12838346, 9464533	Standard	NM_199443		Approved	Unph	uc003cwq.2	Q13107	OTTHUMG00000156825	ENST00000265560.4:c.125T>G	3.37:g.49373006A>C	ENSP00000265560:p.Phe42Cys		A8K6Y0|C9IY91|O43452|O43453|Q08AK8	Missense_Mutation	SNP	ENST00000265560.4	37	CCDS2793.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.230032	0.79688	.	.	ENSG00000114316	ENST00000351842;ENST00000265560;ENST00000416417;ENST00000415188	T;T;T	0.42131	1.67;1.7;0.98	5.01	5.01	0.66863	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (3);	0.000000	0.85682	D	0.000000	T	0.70351	0.3214	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.77822	-0.2445	10	0.87932	D	0	-18.5847	12.9626	0.58466	1.0:0.0:0.0:0.0	.	42;42	Q13107-2;Q13107	.;UBP4_HUMAN	C	42	ENSP00000341028:F42C;ENSP00000265560:F42C;ENSP00000400623:F42C	ENSP00000265560:F42C	F	-	2	0	USP4	49348010	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.726000	0.91474	2.007000	0.58848	0.379000	0.24179	TTC		0.413	USP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346069.1		NM_199443	
WDR86	349136	broad.mit.edu;ucsc.edu	37	7	151092874	151092874	+	Silent	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr7:151092874G>A	ENST00000334493.6	-	3	1144	c.714C>T	c.(712-714)gtC>gtT	p.V238V	WDR86_ENST00000477459.1_Silent_p.V110V|WDR86_ENST00000463000.1_5'UTR|WDR86_ENST00000469830.2_Silent_p.V238V	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	238								p.V238V(2)|p.V110V(1)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGACAGATGACGGAGCCCC	0.687																																																	3	Substitution - coding silent(3)	kidney(3)											19.0	21.0	20.0					7																	151092874		2161	4238	6399	SO:0001819	synonymous_variant	349136			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.714C>T	7.37:g.151092874G>A			B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	ENST00000334493.6	37	CCDS5925.2																																																																																				0.687	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3		NM_198285	
WDR87	83889	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	38380084	38380084	+	Silent	SNP	G	G	A			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:38380084G>A	ENST00000303868.5	-	6	4334	c.4110C>T	c.(4108-4110)ggC>ggT	p.G1370G	WDR87_ENST00000447313.2_Silent_p.G1409G	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1370								p.G1370G(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TAACTTTCTTGCCCTTTTTCA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	82.0	91.0					19																	38380084		692	1591	2283	SO:0001819	synonymous_variant	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.4110C>T	19.37:g.38380084G>A			Q9BWV9	Silent	SNP	ENST00000303868.5	37	CCDS46063.1																																																																																				0.393	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000314628.2		XM_940478	
YOD1	55432	hgsc.bcm.edu;ucsc.edu	37	1	207222973	207222977	+	Frame_Shift_Del	DEL	GCAAA	GCAAA	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	GCAAA	GCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr1:207222973_207222977delGCAAA	ENST00000315927.4	-	2	481_485	c.435_439delTTTGC	c.(433-441)actttgcctfs	p.LP146fs	YOD1_ENST00000391927.1_Frame_Shift_Del_p.LP102fs|PFKFB2_ENST00000411990.2_Intron|YOD1_ENST00000367084.1_Frame_Shift_Del_p.LP102fs	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	146					cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GTAAGCACAGGCAAAGTTTCCCTGA	0.478																																																	0																																										SO:0001589	frameshift_variant	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.435_439delTTTGC	1.37:g.207222973_207222977delGCAAA	ENSP00000326813:p.Leu146fs		B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Frame_Shift_Del	DEL	ENST00000315927.4	37	CCDS31002.1																																																																																				0.478	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087837.1		NM_018566	
ZBED3	84327	broad.mit.edu	37	5	76373057	76373058	+	In_Frame_Ins	INS	-	-	GCG			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr5:76373057_76373058insGCG	ENST00000255198.2	-	3	1010_1011	c.646_647insCGC	c.(646-648)ctc>cCGCtc	p.215_216insP	CTC-564N23.2_ENST00000512650.1_RNA|ZBED3_ENST00000505685.1_5'Flank	NM_032367.2	NP_115743.1	Q96IU2	ZBED3_HUMAN	zinc finger, BED-type containing 3	215					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein stabilization (GO:0050821)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_lung(232;0.00645)|Lung NSC(167;0.0135)|Ovarian(174;0.0798)|Prostate(461;0.121)		OV - Ovarian serous cystadenocarcinoma(54;2.24e-51)|Epithelial(54;9.06e-46)|all cancers(79;2.48e-41)		GTCGTCCTTGAGCGGCGGCGGC	0.733																																																	0																																										SO:0001652	inframe_insertion	84327			BC007239	CCDS4036.1	5q13.2	2013-05-03			ENSG00000132846	ENSG00000132846		"""Zinc fingers, BED-type"""	20711	protein-coding gene	gene with protein product		615250				23533661	Standard	NM_032367		Approved	MGC15435	uc003kev.1	Q96IU2	OTTHUMG00000102131	ENST00000255198.2:c.644_646dupCGC	5.37:g.76373064_76373066dupGCG	ENSP00000255198:p.Pro215_Pro215dup			In_Frame_Ins	INS	ENST00000255198.2	37	CCDS4036.1																																																																																				0.733	ZBED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219970.1		NM_032367	
ZCCHC13	389874	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	73524500	73524500	+	Silent	SNP	C	C	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chrX:73524500C>T	ENST00000339534.2	+	1	476	c.399C>T	c.(397-399)tgC>tgT	p.C133C		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	133							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.C133C(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GTTACCGATGCGGCGAGATTG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	56.0	61.0					X																	73524500		2203	4300	6503	SO:0001819	synonymous_variant	389874			BC021176	CCDS14425.1	Xq13.2	2008-02-05			ENSG00000187969	ENSG00000187969		"""Zinc fingers, CCHC domain containing"""	31749	protein-coding gene	gene with protein product							Standard	NM_203303		Approved	4930513O09RIK, Cnbp2, ZNF9L	uc004ebs.4	Q8WW36	OTTHUMG00000021851	ENST00000339534.2:c.399C>T	X.37:g.73524500C>T				Silent	SNP	ENST00000339534.2	37	CCDS14425.1																																																																																				0.552	ZCCHC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057260.1		NM_203303	
ZNF350	59348	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52469415	52469415	+	Silent	SNP	C	C	G			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:52469415C>G	ENST00000243644.4	-	5	518	c.291G>C	c.(289-291)gtG>gtC	p.V97V	HCCAT3_ENST00000595010.1_RNA|ZNF350_ENST00000600703.1_5'Flank|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	97					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V97V(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TCCTTCTGTTCACCAGGCTTT	0.358																																																	1	Substitution - coding silent(1)	kidney(1)											66.0	67.0	66.0					19																	52469415		2203	4299	6502	SO:0001819	synonymous_variant	59348			AF295096	CCDS12845.1	19q13.41	2013-05-23			ENSG00000256683	ENSG00000256683		"""Zinc fingers, C2H2-type"", ""-"""	16656	protein-coding gene	gene with protein product		605422				11090615, 11161714	Standard	NM_021632		Approved	ZBRK1, ZFQR	uc002pyd.3	Q9GZX5	OTTHUMG00000182538	ENST00000243644.4:c.291G>C	19.37:g.52469415C>G			Q96G73|Q9HAQ4	Silent	SNP	ENST00000243644.4	37	CCDS12845.1																																																																																				0.358	ZNF350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462278.1		NM_021632	
ZNF528	84436	hgsc.bcm.edu;ucsc.edu	37	19	52918713	52918715	+	In_Frame_Del	DEL	ACC	ACC	-			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	ACC	ACC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:52918713_52918715delACC	ENST00000360465.3	+	7	1034_1036	c.608_610delACC	c.(607-612)aaccaa>aaa	p.203_204NQ>K	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGCCTTACTAACCAAGTAATCCA	0.404																																																	0																																										SO:0001651	inframe_deletion	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.608_610delACC	19.37:g.52918713_52918715delACC	ENSP00000353652:p.Asn203_Gln204delinsLys		B3KPN4|Q86T88|Q96JK0	In_Frame_Del	DEL	ENST00000360465.3	37	CCDS33091.1																																																																																				0.404	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1		NM_032423	
ZIM3	114026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57646742	57646742	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr19:57646742A>T	ENST00000269834.1	-	5	1348	c.963T>A	c.(961-963)gaT>gaA	p.D321E	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	321					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D321E(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTTTCACAAGATCTGACTTGT	0.408																																																	1	Substitution - Missense(1)	kidney(1)											147.0	143.0	144.0					19																	57646742		2203	4300	6503	SO:0001583	missense	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.963T>A	19.37:g.57646742A>T	ENSP00000269834:p.Asp321Glu		Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	A	9.455	1.091709	0.20471	.	.	ENSG00000141946	ENST00000269834	T	0.07327	3.2	2.61	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03564	0.0102	N	0.11131	0.1	0.09310	N	1	B	0.23735	0.09	B	0.29176	0.099	T	0.45991	-0.9223	9	0.02654	T	1	.	4.8052	0.13316	0.6956:0.0:0.3044:0.0	.	321	Q96PE6	ZIM3_HUMAN	E	321	ENSP00000269834:D321E	ENSP00000269834:D321E	D	-	3	2	ZIM3	62338554	0.000000	0.05858	0.858000	0.33744	0.639000	0.38242	-1.317000	0.02707	0.183000	0.20059	0.260000	0.18958	GAT		0.408	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			
SPRED1	161742	broad.mit.edu	37	15	38632097	38632097	+	Splice_Site	SNP	G	G	T			TCGA-BP-4162-01A-02D-1386-10	TCGA-BP-4162-11A-01D-1251-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	33d9ec10-b162-4bfa-a332-1802bad586bc	56936753-6197-46ae-b994-df957a6023ab	g.chr15:38632097G>T	ENST00000299084.4	+	5	1442		c.e5+1			NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1						inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)	p.?(1)		kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGCCAATCAGGTAAGAAGATA	0.383									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)	.											1	Unknown(1)	kidney(1)											78.0	80.0	79.0					15																	38632097		2200	4296	6496	SO:0001630	splice_region_variant	161742	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.582+1G>T	15.37:g.38632097G>T			B2RPJ8|Q05D53|Q8N256	Splice_Site	SNP	ENST00000299084.4	37	CCDS32193.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128272	0.56721	.	.	ENSG00000166068	ENST00000299084	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.402	0.83643	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SPRED1	36419389	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	6.258000	0.72487	2.370000	0.80446	0.585000	0.79938	.		0.383	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418217.1			Intron
