#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
ALDH7A1	501	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	125891622	125891622	+	Splice_Site	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:125891622C>T	ENST00000409134.3	-	12	1313		c.e12+1		ALDH7A1_ENST00000447989.2_Intron|ALDH7A1_ENST00000553117.1_Intron|RNU6-963P_ENST00000363477.1_RNA	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1						cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.?(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		GAGATACTCACGGTCCCATGG	0.413																																																	1	Unknown(1)	kidney(1)											97.0	95.0	96.0					5																	125891622		2203	4300	6503	SO:0001630	splice_region_variant	501			S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.1093+1G>A	5.37:g.125891622C>T			B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Splice_Site	SNP	ENST00000409134.3	37	CCDS4137.2	.	.	.	.	.	.	.	.	.	.	C	8.100	0.776533	0.16120	.	.	ENSG00000164904	ENST00000409134;ENST00000437170	.	.	.	4.99	4.13	0.48395	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5246	0.61586	0.0:0.9231:0.0:0.0769	.	.	.	.	.	-1	.	.	.	-	.	.	ALDH7A1	125919521	1.000000	0.71417	0.997000	0.53966	0.022000	0.10575	4.498000	0.60373	1.244000	0.43870	-0.137000	0.14449	.		0.413	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2		NM_001182	Intron
ARID1A	8289	hgsc.bcm.edu	37	1	27087419	27087420	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	GG	GG	GG	-	GG	GG	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:27087419_27087420delGG	ENST00000324856.7	+	5	2364_2365	c.1993_1994delGG	c.(1993-1995)gggfs	p.G665fs	RN7SL501P_ENST00000578818.1_RNA|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.G665fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.G282fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	665					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCACATCAGGGATTTCCAGC	0.52			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0																																										SO:0001589	frameshift_variant	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1993_1994delGG	1.37:g.27087419_27087420delGG	ENSP00000320485:p.Gly665fs		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	CCDS285.1																																																																																				0.520	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2		NM_139135	
ATP2A2	488	broad.mit.edu;ucsc.edu	37	12	110720427	110720427	+	Splice_Site	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr12:110720427G>C	ENST00000539276.2	+	2	245		c.e2+1		ATP2A2_ENST00000308664.6_Splice_Site|ATP2A2_ENST00000395494.2_Splice_Site|ATP2A2_ENST00000552636.1_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|epidermis development (GO:0008544)|ER-nucleus signaling pathway (GO:0006984)|ion transmembrane transport (GO:0034220)|negative regulation of heart contraction (GO:0045822)|positive regulation of heart rate (GO:0010460)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calcium-transporting ATPase activity involved in regulation of cardiac muscle cell membrane potential (GO:0086039)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|S100 protein binding (GO:0044548)	p.?(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GCTGAAGAAGGTAATCTTAAC	0.363																																																	1	Unknown(1)	kidney(1)											281.0	277.0	279.0					12																	110720427		2203	4300	6503	SO:0001630	splice_region_variant	488				CCDS9143.1, CCDS9144.1	12q24.11	2012-10-22			ENSG00000174437	ENSG00000174437	3.6.3.8	"""ATPases / P-type"""	812	protein-coding gene	gene with protein product	"""sarcoplasmic/endoplasmic reticulum calcium ATPase 2"", ""calcium pump 2"""	108740		ATP2B, DAR		10080178	Standard	NM_170665		Approved	SERCA2	uc001tqk.4	P16615	OTTHUMG00000169327	ENST00000539276.2:c.136+1G>C	12.37:g.110720427G>C			A6NDN7|B4DF05|P16614|Q86VJ2	Splice_Site	SNP	ENST00000539276.2	37	CCDS9144.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.231040	0.79688	.	.	ENSG00000174437	ENST00000308664;ENST00000395494;ENST00000539276	.	.	.	5.79	4.89	0.63831	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.256	0.73585	0.0682:0.0:0.9318:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ATP2A2	109204810	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	9.178000	0.94855	2.739000	0.93911	0.655000	0.94253	.		0.363	ATP2A2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403539.1		NM_001681	Intron
ATRX	546	broad.mit.edu;hgsc.bcm.edu	37	X	76813066	76813066	+	Silent	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:76813066C>T	ENST00000373344.5	-	30	6769	c.6555G>A	c.(6553-6555)ctG>ctA	p.L2185L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.L2147L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2185	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with MECP2.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.L2185L(2)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCGAAAAGACAGTGACTGCT	0.348			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	3	Substitution - coding silent(2)|Unknown(1)	kidney(2)|bone(1)											144.0	131.0	135.0					X																	76813066		2203	4296	6499	SO:0001819	synonymous_variant	546			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6555G>A	X.37:g.76813066C>T			D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Silent	SNP	ENST00000373344.5	37	CCDS14434.1																																																																																				0.348	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2		NM_000489	
BRD7	29117	hgsc.bcm.edu	37	16	50383993	50383994	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:50383993_50383994insAC	ENST00000394688.3	-	5	690_691	c.531_532insGT	c.(529-534)gattttfs	p.F178fs	BRD7_ENST00000394689.2_Frame_Shift_Ins_p.F178fs|snoU13_ENST00000459559.1_RNA|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	178	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ATGGTACTAAAATCCATTGGGT	0.337																																																	0																																										SO:0001589	frameshift_variant	29117			AF213969	CCDS10742.1, CCDS54007.1	16q12.1	2008-11-18	2002-01-14		ENSG00000166164	ENSG00000166164			14310	protein-coding gene	gene with protein product			"""bromodomain-containing 7"""			10526152, 18809673	Standard	NM_013263		Approved	CELTIX1, BP75	uc002ege.2	Q9NPI1	OTTHUMG00000133170	ENST00000394688.3:c.531_532insGT	16.37:g.50383993_50383994insAC	ENSP00000378180:p.Phe178fs		Q4VC09|Q8N2L9|Q96KA4|Q9BV48|Q9UH59	Frame_Shift_Ins	INS	ENST00000394688.3	37	CCDS10742.1																																																																																				0.337	BRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256874.3		NM_013263	
TRAPPC11	60684	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184585186	184585186	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr4:184585186C>T	ENST00000334690.6	+	2	368	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.L56F	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	56					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)		p.L56F(1)									TTTCAAGGTGCTCCCAGGTGA	0.478																																																	1	Substitution - Missense(1)	kidney(1)											148.0	142.0	144.0					4																	184585186		2203	4300	6503	SO:0001583	missense	0				CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.166C>T	4.37:g.184585186C>T	ENSP00000335371:p.Leu56Phe		A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	ENST00000334690.6	37	CCDS34112.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.615559	0.87359	.	.	ENSG00000168538	ENST00000334690;ENST00000357207;ENST00000360109	.	.	.	6.03	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.66655	0.2811	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.982;0.988	T	0.63184	-0.6694	9	0.25751	T	0.34	.	14.7095	0.69218	0.0:0.9304:0.0:0.0696	.	56;56	Q7Z392;Q7Z392-3	TPC11_HUMAN;.	F	56	.	ENSP00000335371:L56F	L	+	1	0	C4orf41	184822180	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.801000	0.69115	1.545000	0.49373	0.655000	0.94253	CTC		0.478	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2		NM_021942	
CA9	768	broad.mit.edu;hgsc.bcm.edu	37	9	35676103	35676103	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:35676103C>G	ENST00000378357.4	+	4	751	c.647C>G	c.(646-648)cCc>cGc	p.P216R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	216	Catalytic.				bicarbonate transport (GO:0015701)|cellular response to hypoxia (GO:0071456)|morphogenesis of an epithelium (GO:0002009)|one-carbon metabolic process (GO:0006730)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to drug (GO:0042493)|response to testosterone (GO:0033574)|secretion (GO:0046903)|small molecule metabolic process (GO:0044281)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.P216R(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		Benzthiazide(DB00562)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Zonisamide(DB00909)	GCTCTGGGTCCCGGGCGGGAG	0.701																																																	1	Substitution - Missense(1)	kidney(1)											14.0	18.0	17.0					9																	35676103		2197	4296	6493	SO:0001583	missense	768			X66839	CCDS6585.1	9p13.3	2012-08-21			ENSG00000107159	ENSG00000107159		"""Carbonic anhydrases"""	1383	protein-coding gene	gene with protein product	"""carbonic dehydratase"", ""RCC-associated protein G250"""	603179				8661007, 9787087	Standard	NM_001216		Approved	MN, CAIX	uc003zxo.4	Q16790	OTTHUMG00000021029	ENST00000378357.4:c.647C>G	9.37:g.35676103C>G	ENSP00000367608:p.Pro216Arg		Q5T4R1	Missense_Mutation	SNP	ENST00000378357.4	37	CCDS6585.1	.	.	.	.	.	.	.	.	.	.	C	6.650	0.488435	0.12641	.	.	ENSG00000107159	ENST00000378357;ENST00000544074	T	0.65178	-0.14	4.96	4.06	0.47325	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.191796	0.36482	N	0.002571	T	0.72301	0.3443	M	0.66506	2.035	0.36083	D	0.842937	D;D	0.76494	0.989;0.999	P;D	0.70487	0.901;0.969	T	0.75929	-0.3144	10	0.45353	T	0.12	.	8.5467	0.33426	0.0:0.8984:0.0:0.1016	.	216;216	F5H404;Q16790	.;CAH9_HUMAN	R	216	ENSP00000367608:P216R	ENSP00000367608:P216R	P	+	2	0	CA9	35666103	0.014000	0.17966	0.998000	0.56505	0.129000	0.20672	0.974000	0.29436	2.735000	0.93741	0.655000	0.94253	CCC		0.701	CA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055479.1		NM_001216	
CACNA1F	778	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	49071691	49071691	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:49071691T>G	ENST00000376265.2	-	29	3546	c.3485A>C	c.(3484-3486)gAa>gCa	p.E1162A	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1097A|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1151A	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1162					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.E1162A(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGGGCATATTCCACACATTG	0.587																																																	1	Substitution - Missense(1)	kidney(1)											128.0	86.0	100.0					X																	49071691		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3485A>C	X.37:g.49071691T>G	ENSP00000365441:p.Glu1162Ala		A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	T	17.99	3.524278	0.64747	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96856	-4.15;-4.08;-4.08	5.5	5.5	0.81552	.	0.420318	0.27100	N	0.020921	D	0.96911	0.8991	M	0.84683	2.71	0.49483	D	0.999796	D;P	0.56521	0.976;0.647	P;P	0.49085	0.6;0.548	D	0.96898	0.9658	10	0.62326	D	0.03	.	13.5123	0.61519	0.0:0.0:0.0:1.0	.	1151;1162	F5CIQ9;O60840	.;CAC1F_HUMAN	A	1097;1151;1162	ENSP00000365427:E1097A;ENSP00000321618:E1151A;ENSP00000365441:E1162A	ENSP00000321618:E1151A	E	-	2	0	CACNA1F	48958635	0.992000	0.36948	0.976000	0.42696	0.576000	0.36127	7.979000	0.88103	1.834000	0.53371	0.441000	0.28932	GAA		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1		NM_005183	
CAPN11	11131	broad.mit.edu;hgsc.bcm.edu	37	6	44141055	44141055	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr6:44141055C>A	ENST00000398776.1	+	7	801	c.763C>A	c.(763-765)Cct>Act	p.P255T	CAPN11_ENST00000542245.1_Missense_Mutation_p.P255T	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	255	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|peptidase activity (GO:0008233)	p.P255T(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCAGAGGCCCCCTCAGAACCT	0.592											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											44.0	48.0	47.0					6																	44141055		1935	4124	6059	SO:0001583	missense	11131			AJ242832	CCDS47436.1	6p12	2013-01-10			ENSG00000137225	ENSG00000137225		"""EF-hand domain containing"""	1478	protein-coding gene	gene with protein product		604822				10409436	Standard	NM_007058		Approved		uc003owt.1	Q9UMQ6	OTTHUMG00000014758	ENST00000398776.1:c.763C>A	6.37:g.44141055C>A	ENSP00000381758:p.Pro255Thr	921	B2RA64|Q5T3G1|Q8N4R5	Missense_Mutation	SNP	ENST00000398776.1	37	CCDS47436.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461094	0.63513	.	.	ENSG00000137225	ENST00000398776;ENST00000542245	D;D	0.88431	-2.38;-2.38	4.36	3.49	0.39957	Peptidase C2, calpain, catalytic domain (3);	0.140597	0.33553	N	0.004797	D	0.94195	0.8137	H	0.94771	3.58	0.35680	D	0.814033	D	0.71674	0.998	D	0.65233	0.933	D	0.95345	0.8441	10	0.87932	D	0	.	12.1409	0.53996	0.0:0.9155:0.0:0.0845	.	255	Q9UMQ6	CAN11_HUMAN	T	255	ENSP00000381758:P255T;ENSP00000441078:P255T	ENSP00000381758:P255T	P	+	1	0	CAPN11	44249033	0.366000	0.25014	0.275000	0.24674	0.763000	0.43281	2.326000	0.43849	1.439000	0.47511	0.650000	0.86243	CCT		0.592	CAPN11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040714.3			
CLU	1191	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27466547	27466547	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr8:27466547C>T	ENST00000316403.10	-	3	559	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	CLU_ENST00000405140.3_Missense_Mutation_p.G52R|CLU_ENST00000560366.1_Missense_Mutation_p.G104R|CLU_ENST00000546343.1_Missense_Mutation_p.G63R|CLU_ENST00000523500.1_Missense_Mutation_p.G52R			P10909	CLUS_HUMAN	clusterin	52				G -> Q (in Ref. 10; AA sequence). {ECO:0000305}.	blood coagulation (GO:0007596)|cell morphogenesis (GO:0000902)|central nervous system myelin maintenance (GO:0032286)|chaperone-mediated protein complex assembly (GO:0051131)|chaperone-mediated protein folding (GO:0061077)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|lipid metabolic process (GO:0006629)|microglial cell activation (GO:0001774)|microglial cell proliferation (GO:0061518)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of protein homooligomerization (GO:0032463)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of neurofibrillary tangle assembly (GO:1902998)|positive regulation of neuron death (GO:1901216)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of tau-protein kinase activity (GO:1902949)|positive regulation of tumor necrosis factor production (GO:0032760)|protein import (GO:0017038)|protein stabilization (GO:0050821)|regulation of beta-amyloid clearance (GO:1900221)|regulation of neuron death (GO:1901214)|regulation of neuronal signal transduction (GO:1902847)|release of cytochrome c from mitochondria (GO:0001836)|response to misfolded protein (GO:0051788)|response to virus (GO:0009615)|reverse cholesterol transport (GO:0043691)	apical dendrite (GO:0097440)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|spherical high-density lipoprotein particle (GO:0034366)	misfolded protein binding (GO:0051787)|ubiquitin protein ligase binding (GO:0031625)	p.G104R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		TGTTTCACCCCGTTGACAGCA	0.443																																																	1	Substitution - Missense(1)	kidney(1)											167.0	155.0	159.0					8																	27466547		2203	4300	6503	SO:0001583	missense	1191			M64722	CCDS47832.1	8p21-p12	2012-11-30	2006-02-10		ENSG00000120885	ENSG00000120885			2095	protein-coding gene	gene with protein product	"""complement lysis inhibitor"", ""sulfated glycoprotein 2"", ""testosterone-repressed prostate message 2"", ""apolipoprotein J"""	185430	"""clusterin (complement lysis inhibitor, SP-40,40, sulfated glycoprotein 2, testosterone-repressed prostate message 2, apolipoprotein J)"""	CLI, APOJ		1585460	Standard	NR_038335		Approved	SGP-2, SP-40, TRPM-2, KUB1, CLU1, CLU2	uc003xfz.2	P10909	OTTHUMG00000102114	ENST00000316403.10:c.154G>A	8.37:g.27466547C>T	ENSP00000315130:p.Gly52Arg		B2R9Q1|B3KSE6|P11380|P11381|Q2TU75|Q5HYC1|Q7Z5B9	Missense_Mutation	SNP	ENST00000316403.10	37	CCDS47832.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438530	0.83885	.	.	ENSG00000120885	ENST00000316403;ENST00000546343;ENST00000405140;ENST00000523500;ENST00000523589;ENST00000520796;ENST00000519742;ENST00000520491;ENST00000522413;ENST00000519472;ENST00000523396	T;T;T;T;T;T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01;1.01	5.46	4.59	0.56863	Clusterin, N-terminal (1);	0.114681	0.64402	D	0.000013	T	0.54951	0.1890	M	0.77820	2.39	0.54753	D	0.999989	D;D;D	0.57571	0.975;0.975;0.98	P;P;P	0.52159	0.564;0.564;0.691	T	0.61826	-0.6983	10	0.87932	D	0	-26.5141	11.9872	0.53155	0.0:0.916:0.0:0.084	.	104;63;52	P10909-2;P10909-5;P10909	.;.;CLUS_HUMAN	R	104;63;52;52;52;52;52;52;52;52;52	ENSP00000446413:G63R;ENSP00000385419:G52R;ENSP00000429620:G52R;ENSP00000431070:G52R;ENSP00000429336:G52R;ENSP00000431026:G52R;ENSP00000429881:G52R;ENSP00000428779:G52R;ENSP00000427868:G52R;ENSP00000428526:G52R	ENSP00000315130:G104R	G	-	1	0	CLU	27522464	1.000000	0.71417	0.538000	0.28064	0.825000	0.46686	6.631000	0.74277	1.303000	0.44873	0.655000	0.94253	GGG		0.443	CLU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219953.3		NM_001831	
CDH17	1015	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	95183159	95183159	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr8:95183159G>T	ENST00000027335.3	-	8	962	c.838C>A	c.(838-840)Cca>Aca	p.P280T	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.P280T	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	280	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.P280T(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GGGAATCTTGGCAGCTTCTCT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											122.0	118.0	119.0					8																	95183159		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.838C>A	8.37:g.95183159G>T	ENSP00000027335:p.Pro280Thr		Q15336|Q2M2E0	Missense_Mutation	SNP	ENST00000027335.3	37	CCDS6260.1	.	.	.	.	.	.	.	.	.	.	G	10.73	1.433121	0.25813	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.61980	0.06;0.06	5.95	0.721	0.18219	Cadherin (4);Cadherin-like (1);	0.116455	0.39274	N	0.001414	T	0.55210	0.1906	M	0.79258	2.445	0.09310	N	1	B	0.27910	0.193	B	0.31390	0.129	T	0.45629	-0.9248	10	0.33141	T	0.24	-1.3649	3.0521	0.06173	0.2141:0.1212:0.5401:0.1246	.	280	Q12864	CAD17_HUMAN	T	280	ENSP00000027335:P280T;ENSP00000401468:P280T	ENSP00000027335:P280T	P	-	1	0	CDH17	95252335	0.042000	0.20092	0.027000	0.17364	0.629000	0.37895	0.508000	0.22692	0.369000	0.24510	0.650000	0.86243	CCA		0.453	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378560.1		NM_004063	
COL15A1	1306	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	101777786	101777786	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:101777786G>A	ENST00000375001.3	+	10	1864	c.1441G>A	c.(1441-1443)Gtc>Atc	p.V481I		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	481	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)	p.V481I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGCCAGTGGGGTCCCCACAGA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											66.0	60.0	62.0					9																	101777786		2203	4300	6503	SO:0001583	missense	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1441G>A	9.37:g.101777786G>A	ENSP00000364140:p.Val481Ile		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.728601	0.30593	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89270	-2.49	3.33	-0.888	0.10583	.	14.345800	0.00465	N	0.000107	T	0.78842	0.4347	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.63400	-0.6646	10	0.32370	T	0.25	0.017	3.062	0.06203	0.2192:0.0:0.4175:0.3633	.	481	P39059	COFA1_HUMAN	I	481;451	ENSP00000364140:V481I	ENSP00000364140:V481I	V	+	1	0	COL15A1	100817607	0.000000	0.05858	0.069000	0.20011	0.954000	0.61252	-0.321000	0.08018	-0.188000	0.10499	-0.143000	0.13931	GTC		0.547	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3		NM_001855	
CPA2	1358	broad.mit.edu;ucsc.edu	37	7	129916502	129916502	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr7:129916502C>T	ENST00000222481.4	+	7	675	c.620C>T	c.(619-621)aCt>aTt	p.T207I		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	207					protein catabolic process in the vacuole (GO:0007039)	extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.T205I(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					CCATCCATCACTTCCATTCTG	0.453																																																	1	Substitution - Missense(1)	kidney(1)											240.0	217.0	225.0					7																	129916502		2203	4300	6503	SO:0001583	missense	1358			U19977	CCDS5817.2	7q32	2012-02-10			ENSG00000158516	ENSG00000158516	3.4.17.15		2297	protein-coding gene	gene with protein product		600688				7896805, 10860668	Standard	NM_001869		Approved		uc003vpq.3	P48052	OTTHUMG00000157019	ENST00000222481.4:c.620C>T	7.37:g.129916502C>T	ENSP00000222481:p.Thr207Ile		A4D1M4|C9JIK1|Q53XS1|Q96A12|Q96QN3|Q9UCF1	Missense_Mutation	SNP	ENST00000222481.4	37	CCDS5817.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528256	0.64860	.	.	ENSG00000158516	ENST00000222481	T	0.12147	2.71	5.41	5.41	0.78517	Peptidase M14, carboxypeptidase A (2);	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.91612	3.225	0.80722	D	1	D;D	0.76494	0.999;0.979	D;D	0.74348	0.983;0.919	T	0.58267	-0.7666	10	0.87932	D	0	.	18.5688	0.91128	0.0:1.0:0.0:0.0	.	205;207	B4DDX9;P48052	.;CBPA2_HUMAN	I	207	ENSP00000222481:T207I	ENSP00000222481:T207I	T	+	2	0	CPA2	129703738	0.999000	0.42202	0.881000	0.34555	0.181000	0.23173	4.503000	0.60407	2.721000	0.93114	0.655000	0.94253	ACT		0.453	CPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347124.2		NM_001869	
CROCC	9696	hgsc.bcm.edu	37	1	17275382	17275382	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:17275382G>A	ENST00000375541.5	+	19	2866	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGGAAGCCGAGGGGCAGGC	0.662																																																	0													22.0	27.0	25.0					1																	17275382		2169	4240	6409	SO:0001583	missense	9696			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2797G>A	1.37:g.17275382G>A	ENSP00000364691:p.Glu933Lys			Missense_Mutation	SNP	ENST00000375541.5	37	CCDS30616.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.992618	0.74703	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.24350	1.86	4.38	4.38	0.52667	.	.	.	.	.	T	0.21427	0.0516	L	0.41492	1.28	0.48040	D	0.999579	P;P	0.41748	0.761;0.641	B;B	0.35182	0.197;0.116	T	0.06445	-1.0826	9	0.51188	T	0.08	.	15.2441	0.73493	0.0:0.0:1.0:0.0	.	236;933	Q5TZA2-2;Q5TZA2	.;CROCC_HUMAN	K	933;814	ENSP00000364691:E933K	ENSP00000364691:E933K	E	+	1	0	CROCC	17147969	1.000000	0.71417	0.180000	0.23079	0.929000	0.56500	6.930000	0.75858	2.374000	0.81015	0.557000	0.71058	GAG		0.662	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006249.2		NM_014675	
CR1	1378	broad.mit.edu;hgsc.bcm.edu	37	1	207700214	207700214	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:207700214G>C	ENST00000367049.4	+	6	1003	c.1003G>C	c.(1003-1005)Gct>Cct	p.A335P	CR1_ENST00000400960.2_Missense_Mutation_p.A335P|CR1_ENST00000367051.1_Intron|CR1_ENST00000367050.4_Intron|CR1_ENST00000367052.1_Missense_Mutation_p.A335P|CR1_ENST00000367053.1_Missense_Mutation_p.A335P	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	335	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.A335P(1)|p.A340P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTCAGAGGGGCTGCGTCTAT	0.557																																																	2	Substitution - Missense(2)	kidney(2)											32.0	47.0	44.0					1																	207700214		1033	3531	4564	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.1003G>C	1.37:g.207700214G>C	ENSP00000356016:p.Ala335Pro		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	ENST00000367049.4	37	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327881	0.24080	.	.	ENSG00000203710	ENST00000367052;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	3.73	-1.3	0.09259	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.58977	0.2160	L	0.28694	0.88	0.09310	N	1	D;P;P	0.89917	1.0;0.592;0.592	D;B;B	0.85130	0.997;0.112;0.112	T	0.48937	-0.8990	9	0.28530	T	0.3	.	1.6102	0.02692	0.2155:0.1593:0.4633:0.1619	.	335;335;335	E9PQN4;P17927;E9PDY4	.;CR1_HUMAN;.	P	335	ENSP00000356019:A335P;ENSP00000356020:A335P;ENSP00000383744:A335P;ENSP00000356016:A335P	ENSP00000356016:A335P	A	+	1	0	CR1	205766837	0.063000	0.20901	0.002000	0.10522	0.104000	0.19210	0.149000	0.16243	-0.110000	0.12022	-0.300000	0.09419	GCT		0.557	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1		NM_000573	
DOCK8	81704	hgsc.bcm.edu	37	9	311956	311957	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:311956_311957insG	ENST00000453981.1	+	6	643_644	c.531_532insG	c.(532-534)ggcfs	p.G178fs	DOCK8_ENST00000469391.1_Frame_Shift_Ins_p.G110fs|DOCK8_ENST00000432829.2_Frame_Shift_Ins_p.G110fs			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	178					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCTCACAGGCAGGCCCCCGCCA	0.545																																																	0																																										SO:0001589	frameshift_variant	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.533dupG	9.37:g.311958_311958dupG	ENSP00000408464:p.Gly178fs		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Frame_Shift_Ins	INS	ENST00000453981.1	37	CCDS6440.2																																																																																				0.545	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5		XM_036307	
DUOX2	50506	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	45398798	45398798	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:45398798G>A	ENST00000603300.1	-	16	2075	c.1873C>T	c.(1873-1875)Cga>Tga	p.R625*	DUOX2_ENST00000389039.6_Nonsense_Mutation_p.R625*	NM_014080.4	NP_054799.4	Q9NRD8	DUOX2_HUMAN	dual oxidase 2	625					adenohypophysis morphogenesis (GO:0048855)|bone mineralization (GO:0030282)|cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|inner ear development (GO:0048839)|multicellular organism growth (GO:0035264)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|response to virus (GO:0009615)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|peroxidase activity (GO:0004601)	p.R625*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGTGTTCTCGGCCCCGGAAA	0.557																																																	1	Substitution - Nonsense(1)	kidney(1)											148.0	145.0	146.0					15																	45398798		2198	4298	6496	SO:0001587	stop_gained	50506			AF181972	CCDS10117.1	15q15.3-q21	2013-01-10			ENSG00000140279	ENSG00000140279		"""EF-hand domain containing"""	13273	protein-coding gene	gene with protein product	"""dual oxidase-like domains 2"", ""nicotinamide adenine dinucleotide phosphate oxidase"", ""flavoprotein NADPH oxidase"", ""NADPH thyroid oxidase 2"", ""NADH/NADPH thyroid oxidase p138-tox"", ""NADPH oxidase/peroxidase DUOX2"""	606759				10601291, 10806195	Standard	NM_014080		Approved	P138-TOX, P138(TOX), THOX2, LNOX2	uc010bea.3	Q9NRD8	OTTHUMG00000131355	ENST00000603300.1:c.1873C>T	15.37:g.45398798G>A	ENSP00000475084:p.Arg625*		A8MQ13|D2XI64|Q9NR02|Q9UHF9	Nonsense_Mutation	SNP	ENST00000603300.1	37	CCDS10117.1	.	.	.	.	.	.	.	.	.	.	G	41	8.775552	0.98950	.	.	ENSG00000140279	ENST00000389039	.	.	.	5.42	4.42	0.53409	.	0.584816	0.18081	N	0.152290	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.1592	12.4305	0.55571	0.0:0.0:0.7839:0.2161	.	.	.	.	X	625	.	ENSP00000373691:R625X	R	-	1	2	DUOX2	43186090	0.027000	0.19231	0.998000	0.56505	0.664000	0.39144	1.233000	0.32648	2.534000	0.85438	0.455000	0.32223	CGA		0.557	DUOX2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_014080	
EFNA3	1944	hgsc.bcm.edu	37	1	155057646	155057657	+	In_Frame_Del	DEL	GGGGTGGGCCCC	GGGGTGGGCCCC	-	rs139404791|rs71576043|rs145094848|rs199552063	byFrequency	TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	GGGGTGGGCCCC	GGGGTGGGCCCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:155057646_155057657delGGGGTGGGCCCC	ENST00000368408.3	+	2	278_289	c.208_219delGGGGTGGGCCCC	c.(208-219)ggggtgggccccdel	p.GVGP70del	EFNA3_ENST00000556931.1_In_Frame_Del_p.GVGP65del|EFNA3_ENST00000505139.1_In_Frame_Del_p.GVGP65del|EFNA3_ENST00000418360.2_In_Frame_Del_p.GVGP70del	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	70	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.				axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAACAGCTCGGGGGTgggccccggggcgggac	0.665														75	0.014976	0.0008	0.0231	5008	,	,		14542	0.0		0.0179	False		,,,				2504	0.0409																0										23,4163		2,19,2072						-2.1	1.0		dbSNP_130	30	146,8000		14,118,3941	no	coding	EFNA3	NM_004952.4		16,137,6013	A1A1,A1R,RR		1.7923,0.5495,1.3704				169,12163				SO:0001651	inframe_deletion	1944			BC017722	CCDS1090.1	1q21-q22	2011-03-09			ENSG00000143590	ENSG00000143590		"""Ephrins"""	3223	protein-coding gene	gene with protein product		601381		EPLG3		8660976	Standard	NM_004952		Approved	LERK3, Ehk1-L	uc001fhf.3	P52797	OTTHUMG00000035313	ENST00000368408.3:c.208_219delGGGGTGGGCCCC	1.37:g.155057646_155057657delGGGGTGGGCCCC	ENSP00000357393:p.Gly70_Pro73del		B7ZAD3|D3DV85|Q0VGC9|Q5SR70	In_Frame_Del	DEL	ENST00000368408.3	37	CCDS1090.1																																																																																				0.665	EFNA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085429.1		NM_004952	
ELSPBP1	64100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	48517560	48517560	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr19:48517560G>T	ENST00000339841.2	+	3	381	c.203G>T	c.(202-204)aGt>aTt	p.S68I	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	68	Fibronectin type-II 1. {ECO:0000255|PROSITE-ProRule:PRU00479}.				single fertilization (GO:0007338)	extracellular region (GO:0005576)		p.S68I(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TACTGCCAGAGTGAAGGTGAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											139.0	120.0	127.0					19																	48517560		2203	4300	6503	SO:0001583	missense	64100			AJ278478	CCDS12708.1	19q13.33	2009-09-17							14417	protein-coding gene	gene with protein product	"""epididymal protein 12"""	607443					Standard	NM_022142		Approved	HE12, E12, EDDM12	uc002pht.3	Q96BH3		ENST00000339841.2:c.203G>T	19.37:g.48517560G>T	ENSP00000340660:p.Ser68Ile		Q96RT0|Q9H4C8	Missense_Mutation	SNP	ENST00000339841.2	37	CCDS12708.1	.	.	.	.	.	.	.	.	.	.	G	3.575	-0.086879	0.07097	.	.	ENSG00000169393	ENST00000339841	T	0.09817	2.94	3.27	-6.53	0.01866	Fibronectin, type II, collagen-binding (3);Kringle-like fold (2);	3.219210	0.02094	N	0.053327	T	0.04907	0.0132	N	0.11255	0.115	0.09310	N	1	B	0.10296	0.003	B	0.09377	0.004	T	0.27773	-1.0064	10	0.35671	T	0.21	.	2.2998	0.04159	0.2553:0.4462:0.1175:0.181	.	68	Q96BH3	ESPB1_HUMAN	I	68	ENSP00000340660:S68I	ENSP00000340660:S68I	S	+	2	0	ELSPBP1	53209372	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.044000	0.00631	-2.737000	0.00381	-1.173000	0.01734	AGT		0.473	ELSPBP1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465207.1			
FBXW7	55294	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	153332528	153332528	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr4:153332528A>T	ENST00000281708.4	-	2	1657	c.428T>A	c.(427-429)gTc>gAc	p.V143D	FBXW7_ENST00000603548.1_Missense_Mutation_p.V143D|FBXW7_ENST00000603841.1_Missense_Mutation_p.V143D|FBXW7_ENST00000604872.1_Missense_Mutation_p.V143D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	143					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.V143D(2)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GGAGTTCGTGACACTGTTAGT	0.428			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	2	Substitution - Missense(2)	kidney(2)											285.0	205.0	232.0					4																	153332528		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.428T>A	4.37:g.153332528A>T	ENSP00000281708:p.Val143Asp		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207137	0.58343	.	.	ENSG00000109670	ENST00000281708	T	0.54866	0.55	5.54	5.54	0.83059	.	1.504730	0.03586	N	0.230998	T	0.47469	0.1447	N	0.14661	0.345	0.80722	D	1	P	0.36733	0.567	B	0.39185	0.293	T	0.10567	-1.0624	10	0.46703	T	0.11	-0.4692	15.6888	0.77434	1.0:0.0:0.0:0.0	.	143	Q969H0	FBXW7_HUMAN	D	143	ENSP00000281708:V143D	ENSP00000281708:V143D	V	-	2	0	FBXW7	153551978	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.778000	0.75043	2.114000	0.64651	0.528000	0.53228	GTC		0.428	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			
GABRQ	55879	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	151821523	151821523	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:151821523C>A	ENST00000370306.2	+	9	1698	c.1678C>A	c.(1678-1680)Ctt>Att	p.L560I		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	560					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.L560I(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TACCTGGGGCCTTAATGATGA	0.517																																																	1	Substitution - Missense(1)	kidney(1)											110.0	85.0	93.0					X																	151821523		2203	4300	6503	SO:0001583	missense	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1678C>A	X.37:g.151821523C>A	ENSP00000359329:p.Leu560Ile		A6NFN1|Q32MB4|Q9NZK8	Missense_Mutation	SNP	ENST00000370306.2	37	CCDS14707.1	.	.	.	.	.	.	.	.	.	.	C	9.064	0.995281	0.19043	.	.	ENSG00000147402	ENST00000370306;ENST00000333733	T	0.80653	-1.4	4.69	0.707	0.18139	Neurotransmitter-gated ion-channel transmembrane domain (2);	6.994430	0.00166	N	0.000001	T	0.74053	0.3666	L	0.43152	1.355	0.09310	N	1	B	0.14805	0.011	B	0.19946	0.027	T	0.55842	-0.8077	10	0.87932	D	0	.	2.4985	0.04628	0.3041:0.3099:0.2938:0.0922	.	560	Q9UN88	GBRT_HUMAN	I	560;85	ENSP00000359329:L560I	ENSP00000331410:L85I	L	+	1	0	GABRQ	151572179	0.009000	0.17119	0.000000	0.03702	0.012000	0.07955	-0.091000	0.11146	-0.007000	0.14345	0.600000	0.82982	CTT		0.517	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058763.2		NM_018558	
HYDIN	54768	broad.mit.edu;hgsc.bcm.edu	37	16	70884503	70884503	+	Silent	SNP	A	A	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:70884503A>G	ENST00000393567.2	-	74	12649	c.12499T>C	c.(12499-12501)Ttg>Ctg	p.L4167L	RNU6ATAC25P_ENST00000408798.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4167					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.L4118L(1)|p.L4166L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTGCAGATCAAATTAAAGTTC	0.443																																																	2	Substitution - coding silent(2)	kidney(2)											67.0	58.0	61.0					16																	70884503		1851	4098	5949	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.12499T>C	16.37:g.70884503A>G			A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				0.443	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			
KAT2B	8850	hgsc.bcm.edu	37	3	20113852	20113853	+	Frame_Shift_Ins	INS	-	-	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:20113852_20113853insG	ENST00000263754.4	+	2	786_787	c.331_332insG	c.(331-333)tggfs	p.W111fs	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	111					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ATGTAATGGCTGGAAAAACCCT	0.455																																																	0																																										SO:0001589	frameshift_variant	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.333dupG	3.37:g.20113854_20113854dupG	ENSP00000263754:p.Trp111fs		Q6NSK1	Frame_Shift_Ins	INS	ENST00000263754.4	37	CCDS2634.1																																																																																				0.455	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1		NM_003884	
KIAA0430	9665	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	15706525	15706525	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:15706525G>C	ENST00000396368.3	-	17	3569	c.3363C>G	c.(3361-3363)atC>atG	p.I1121M	CTB-193M12.1_ENST00000549756.1_RNA|KIAA0430_ENST00000602337.1_Missense_Mutation_p.I1118M|KIAA0430_ENST00000344181.3_Missense_Mutation_p.I723M|KIAA0430_ENST00000551742.1_Missense_Mutation_p.I1121M|KIAA0430_ENST00000540441.2_Missense_Mutation_p.I956M|KIAA0430_ENST00000548025.1_Missense_Mutation_p.I1118M	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	MARF1_HUMAN	KIAA0430	1121	HTH OST-type 3. {ECO:0000255|PROSITE- ProRule:PRU00975}.				double-strand break repair (GO:0006302)|female meiotic division (GO:0007143)|negative regulation of phosphatase activity (GO:0010923)|oogenesis (GO:0048477)|regulation of gene expression (GO:0010468)	membrane (GO:0016020)|peroxisome (GO:0005777)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.I1121M(1)		breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGAAATGACTGATGGGTATGA	0.468																																																	1	Substitution - Missense(1)	kidney(1)											234.0	234.0	234.0					16																	15706525		2008	4201	6209	SO:0001583	missense	9665			AB007890	CCDS10562.2, CCDS53990.1, CCDS55991.1	16p13.11	2013-01-11			ENSG00000166783	ENSG00000166783		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29562	protein-coding gene	gene with protein product	"""limkain b1"", ""protein phosphatase 1, regulatory subunit 34"", ""meiosis arrest female 1"""	614593				9455477, 10493829, 15932519, 22442484, 23090997	Standard	NM_014647		Approved	LKAP, PPP1R34, Marf1	uc010uzw.2	Q9Y4F3	OTTHUMG00000129884	ENST00000396368.3:c.3363C>G	16.37:g.15706525G>C	ENSP00000379654:p.Ile1121Met		A8MSK2|B2RNX2|B4DYY9|B7ZMG1|B7ZMG2|F8VV09|Q6P1R6|Q8WYR2|Q9Y4J9	Missense_Mutation	SNP	ENST00000396368.3	37	CCDS10562.2	.	.	.	.	.	.	.	.	.	.	G	15.63	2.891155	0.52014	.	.	ENSG00000166783	ENST00000396368;ENST00000540441;ENST00000321370;ENST00000344181;ENST00000548025;ENST00000551742;ENST00000551298	T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83	5.45	-4.0	0.04057	.	0.310256	0.36167	N	0.002750	T	0.27697	0.0681	N	0.02011	-0.69	0.27218	N	0.959746	P;B;B;P	0.44877	0.813;0.019;0.019;0.845	P;B;B;P	0.52454	0.573;0.029;0.029;0.699	T	0.46498	-0.9187	10	0.42905	T	0.14	.	11.9162	0.52767	0.2151:0.1098:0.6751:0.0	.	1120;1118;1117;1120	Q9Y4F3-5;F8VV09;Q9Y4F3-4;Q9Y4F3	.;.;.;LKAP_HUMAN	M	1121;956;1061;723;1118;1121;901	ENSP00000379654:I1121M;ENSP00000439819:I956M;ENSP00000341939:I723M;ENSP00000449376:I1118M;ENSP00000450309:I1121M	ENSP00000315718:I1061M	I	-	3	3	KIAA0430	15614026	0.261000	0.24063	0.336000	0.25522	0.978000	0.69477	-0.549000	0.06041	-0.611000	0.05709	-0.280000	0.10049	ATC		0.468	KIAA0430-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252131.2		NM_014647	
LCN9	392399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	138555246	138555246	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:138555246A>C	ENST00000277526.3	+	1	79	c.79A>C	c.(79-81)Aac>Cac	p.N27H	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	27						extracellular region (GO:0005576)	pheromone binding (GO:0005550)|transporter activity (GO:0005215)	p.N27H(2)		kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		TATGCAGAGGAACTACAACGT	0.627																																																	2	Substitution - Missense(2)	kidney(2)											92.0	97.0	95.0					9																	138555246		2067	4198	6265	SO:0001583	missense	392399			AY301270	CCDS56593.1	9q34	2011-11-14			ENSG00000148386	ENSG00000148386		"""Lipocalins"""	17442	protein-coding gene	gene with protein product	"""MUP-like lipocalin"", ""epididymal-specific lipocalin-9"""	612903				15363845	Standard	NM_001001676		Approved		uc004cgk.2	Q8WX39	OTTHUMG00000020916	ENST00000277526.3:c.79A>C	9.37:g.138555246A>C	ENSP00000277526:p.Asn27His		C9J5F0|Q6JVE7	Missense_Mutation	SNP	ENST00000277526.3	37	CCDS56593.1	.	.	.	.	.	.	.	.	.	.	a	12.32	1.903759	0.33628	.	.	ENSG00000148386	ENST00000277526	T	0.21031	2.03	2.56	-3.11	0.05299	Lipocalin conserved site (1);Calycin (1);	0.696284	0.11860	N	0.522487	T	0.30541	0.0768	M	0.83223	2.63	0.09310	N	1	P	0.48407	0.91	P	0.49708	0.62	T	0.16453	-1.0402	10	0.87932	D	0	-24.0605	5.5553	0.17113	0.3133:0.189:0.4977:0.0	.	27	Q8WX39	LCN9_HUMAN	H	27	ENSP00000277526:N27H	ENSP00000277526:N27H	N	+	1	0	LCN9	137695067	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-0.367000	0.07553	-0.736000	0.04831	0.375000	0.23000	AAC		0.627	LCN9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410711.1		NM_001001676	
CRSP8P	441089	broad.mit.edu	37	5	79646840	79646840	+	IGR	DEL	T	T	-	rs398093513|rs34240292|rs60187147|rs574131513	byFrequency	TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:79646840delT								SPZ1 (29179 upstream) : RNU6-211P (14704 downstream)																							GCGTGGGGGCTTACTGCCGGC	0.632													T|TT|T|insertion	3039	0.606829	0.5741	0.5144	5008	,	,		16148	0.8482		0.4364	False		,,,				2504	0.6431																0																																										SO:0001628	intergenic_variant	0																															5.37:g.79646840delT				RNA	DEL		37																																																																																				0	0.632									
MESP2	145873	broad.mit.edu	37	15	90321551	90321551	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:90321551G>A	ENST00000341735.3	+	2	1180	c.1180G>A	c.(1180-1182)Ggc>Agc	p.G394S	MESP2_ENST00000560219.1_Missense_Mutation_p.G96S|MESP2_ENST00000558723.1_3'UTR	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	394					mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G394S(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			GGCCCGCCTGGGCATCTTCTA	0.547																																																	1	Substitution - Missense(1)	kidney(1)											25.0	28.0	27.0					15																	90321551		1833	4075	5908	SO:0001583	missense	145873				CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.1180G>A	15.37:g.90321551G>A	ENSP00000342392:p.Gly394Ser		Q7RTU2	Missense_Mutation	SNP	ENST00000341735.3	37	CCDS42078.1	.	.	.	.	.	.	.	.	.	.	G	5.176	0.217954	0.09810	.	.	ENSG00000188095	ENST00000341735	T	0.79247	-1.25	4.91	1.97	0.26223	.	.	.	.	.	T	0.59362	0.2188	N	0.14661	0.345	0.09310	N	1	B	0.18013	0.025	B	0.13407	0.009	T	0.48103	-0.9064	9	0.41790	T	0.15	-2.3782	7.2158	0.25959	0.3001:0.0:0.6999:0.0	.	394	Q0VG99	MESP2_HUMAN	S	394	ENSP00000342392:G394S	ENSP00000342392:G394S	G	+	1	0	MESP2	88122555	0.477000	0.25909	0.400000	0.26346	0.002000	0.02628	0.996000	0.29719	0.316000	0.23135	-0.216000	0.12614	GGC		0.547	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1		XM_085261	
MLH3	27030	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	75513873	75513873	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:75513873T>G	ENST00000556740.1	-	1	2521	c.2486A>C	c.(2485-2487)aAg>aCg	p.K829T	MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_5'Flank|MLH3_ENST00000556257.1_Missense_Mutation_p.K829T|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000355774.2_Missense_Mutation_p.K829T|MLH3_ENST00000238662.7_Missense_Mutation_p.K829T			Q9UHC1	MLH3_HUMAN	mutL homolog 3	829					ATP catabolic process (GO:0006200)|female meiosis I (GO:0007144)|male meiosis (GO:0007140)|mismatch repair (GO:0006298)|protein localization (GO:0008104)|reciprocal meiotic recombination (GO:0007131)|synaptonemal complex assembly (GO:0007130)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|mismatch repair complex (GO:0032300)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|chromatin binding (GO:0003682)|mismatched DNA binding (GO:0030983)|satellite DNA binding (GO:0003696)|single-stranded DNA binding (GO:0003697)	p.K829T(2)		breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GAATGGAAACTTCTCTGAGTT	0.383								Mismatch excision repair (MMR)																																									2	Substitution - Missense(2)	kidney(2)											86.0	88.0	87.0					14																	75513873		2203	4300	6503	SO:0001583	missense	27030			AF195657	CCDS9837.1, CCDS32123.1	14q24.3	2014-09-17	2013-09-12			ENSG00000119684			7128	protein-coding gene	gene with protein product		604395	"""mutL (E. coli) homolog 3"", ""mutL homolog 3 (E. coli)"""			10615123	Standard	XR_245681		Approved		uc001xrd.1	Q9UHC1		ENST00000556740.1:c.2486A>C	14.37:g.75513873T>G	ENSP00000452316:p.Lys829Thr		P49751|Q56DK9|Q9P292|Q9UHC0	Missense_Mutation	SNP	ENST00000556740.1	37	CCDS32123.1	.	.	.	.	.	.	.	.	.	.	T	7.393	0.631257	0.14322	.	.	ENSG00000119684	ENST00000355774;ENST00000238662;ENST00000556257;ENST00000556740	T;T;D;T	0.81579	-1.43;-1.45;-1.51;-1.43	5.84	4.69	0.59074	.	0.937916	0.08975	N	0.866627	T	0.75496	0.3857	L	0.43152	1.355	0.29473	N	0.856923	B;B	0.17667	0.023;0.006	B;B	0.14578	0.011;0.002	T	0.66252	-0.5970	10	0.46703	T	0.11	-0.2914	10.5808	0.45255	0.0:0.0732:0.0:0.9268	.	829;829	Q9UHC1-2;Q9UHC1	.;MLH3_HUMAN	T	829	ENSP00000348020:K829T;ENSP00000238662:K829T;ENSP00000451540:K829T;ENSP00000452316:K829T	ENSP00000238662:K829T	K	-	2	0	MLH3	74583626	0.000000	0.05858	0.010000	0.14722	0.022000	0.10575	0.547000	0.23299	1.027000	0.39758	0.533000	0.62120	AAG		0.383	MLH3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415006.1		NM_014381	
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152529113	152529113	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr2:152529113G>T	ENST00000172853.10	-	37	4216	c.4069C>A	c.(4069-4071)Cac>Aac	p.H1357N	NEB_ENST00000603639.1_Missense_Mutation_p.H1357N|NEB_ENST00000427231.2_Missense_Mutation_p.H1357N|NEB_ENST00000604864.1_Missense_Mutation_p.H1357N|NEB_ENST00000397345.3_Missense_Mutation_p.H1357N|NEB_ENST00000409198.1_Missense_Mutation_p.H1357N			P20929	NEBU_HUMAN	nebulin	1357					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.H1357N(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCATATAGTGGACCAGCTTG	0.458																																																	2	Substitution - Missense(2)	kidney(2)											131.0	126.0	128.0					2																	152529113		1927	4132	6059	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.4069C>A	2.37:g.152529113G>T	ENSP00000172853:p.His1357Asn		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37		.	.	.	.	.	.	.	.	.	.	G	22.6	4.314564	0.81358	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000172853	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.90814	3.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.78643	-0.2124	10	0.41790	T	0.15	.	15.0068	0.71519	0.0696:0.0:0.9304:0.0	.	1357	P20929	NEBU_HUMAN	N	1357	ENSP00000386259:H1357N;ENSP00000380505:H1357N;ENSP00000416578:H1357N;ENSP00000172853:H1357N	ENSP00000172853:H1357N	H	-	1	0	NEB	152237359	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.764000	0.68826	2.712000	0.92718	0.650000	0.86243	CAC		0.458	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NIN	51199	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	51224783	51224783	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:51224783C>T	ENST00000382041.3	-	18	3155	c.2965G>A	c.(2965-2967)Gcc>Acc	p.A989T	NIN_ENST00000324330.9_Missense_Mutation_p.A989T|NIN_ENST00000245441.5_Missense_Mutation_p.A989T|NIN_ENST00000530997.2_Missense_Mutation_p.A989T|NIN_ENST00000382043.4_Intron|NIN_ENST00000389868.3_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.A989T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	989					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)	p.A989T(2)|p.A995T(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TTCTCCATGGCTAGAAGCTTG	0.502			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	3	Substitution - Missense(3)	kidney(3)											144.0	140.0	141.0					14																	51224783		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.2965G>A	14.37:g.51224783C>T	ENSP00000371472:p.Ala989Thr		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	ENST00000382041.3	37	CCDS32079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.458|9.458	1.092393|1.092393	0.20471|0.20471	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.08193|.	3.39;3.12;3.12;3.12|.	5.46|5.46	4.38|4.38	0.52667|0.52667	.|.	0.290468|.	0.33875|.	N|.	0.004477|.	T|T	0.53850|0.53850	0.1822|0.1822	M|M	0.64997|0.64997	1.995|1.995	0.21950|0.21950	N|N	0.999456|0.999456	B;B;B;P|.	0.45902|.	0.298;0.193;0.075;0.868|.	B;B;B;B|.	0.41510|.	0.076;0.048;0.034;0.359|.	T|T	0.46062|0.46062	-0.9218|-0.9218	10|5	0.23302|.	T|.	0.38|.	-1.0317|-1.0317	10.6887|10.6887	0.45858|0.45858	0.0:0.8375:0.0:0.1625|0.0:0.8375:0.0:0.1625	.|.	995;989;989;989|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	T|N	989;972;995;989;989;989|479	ENSP00000245441:A989T;ENSP00000371472:A989T;ENSP00000324210:A989T;ENSP00000412391:A989T|.	ENSP00000245441:A989T|.	A|S	-|-	1|2	0|0	NIN|NIN	50294533|50294533	0.093000|0.093000	0.21703|0.21703	0.673000|0.673000	0.29887|0.29887	0.043000|0.043000	0.13939|0.13939	1.208000|1.208000	0.32345|0.32345	2.561000|2.561000	0.86390|0.86390	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.502	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2		NM_182946	
OR1J2	26740	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	125273604	125273604	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr9:125273604C>T	ENST00000335302.5	+	1	524	c.524C>T	c.(523-525)cCc>cTc	p.P175L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P175L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						AACACCATCCCCCATGTCTTC	0.532																																																	1	Substitution - Missense(1)	kidney(1)											184.0	153.0	163.0					9																	125273604		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.524C>T	9.37:g.125273604C>T	ENSP00000335575:p.Pro175Leu		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	ENST00000335302.5	37	CCDS35121.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.678659	0.29783	.	.	ENSG00000197233	ENST00000335302	T	0.00063	8.78	4.33	-0.143	0.13444	GPCR, rhodopsin-like superfamily (1);	0.407958	0.17651	U	0.166674	T	0.00178	0.0005	M	0.74467	2.265	0.09310	N	1	B	0.15719	0.014	B	0.25614	0.062	T	0.43310	-0.9399	10	0.62326	D	0.03	.	3.6823	0.08314	0.493:0.2948:0.1262:0.086	.	175	Q8NGS2	OR1J2_HUMAN	L	175	ENSP00000335575:P175L	ENSP00000335575:P175L	P	+	2	0	OR1J2	124313425	0.000000	0.05858	0.014000	0.15608	0.108000	0.19459	-0.816000	0.04477	0.062000	0.16340	0.650000	0.86243	CCC		0.532	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053932.1			
OR52K1	390036	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	4510760	4510760	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr11:4510760G>A	ENST00000307632.3	+	1	652	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V210V(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTATTGTGGTGTTGGACCTGC	0.502																																																	1	Substitution - coding silent(1)	kidney(1)											536.0	414.0	455.0					11																	4510760		2201	4298	6499	SO:0001819	synonymous_variant	390036			AB065790	CCDS31352.1	11p15.4	2012-08-09			ENSG00000196778	ENSG00000196778		"""GPCR / Class A : Olfactory receptors"""	15222	protein-coding gene	gene with protein product							Standard	NM_001005171		Approved		uc001lza.2	Q8NGK4	OTTHUMG00000165705	ENST00000307632.3:c.630G>A	11.37:g.4510760G>A			B9EH54|Q6IFK5	Silent	SNP	ENST00000307632.3	37	CCDS31352.1																																																																																				0.502	OR52K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385846.1		NM_001005171	
OR51V1	283111	broad.mit.edu;ucsc.edu	37	11	5221093	5221093	+	Missense_Mutation	SNP	C	C	T	rs182727082		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr11:5221093C>T	ENST00000321255.1	-	1	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	280					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V280M(2)		endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGTGGGCCACGGGGGAAAGG	0.473																																																	2	Substitution - Missense(2)	large_intestine(1)|kidney(1)						C	MET/VAL	0,4402		0,0,2201	119.0	106.0	110.0		838	-10.3	0.0	11		110	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR51V1	NM_001004760.2	21	0,1,6498	TT,TC,CC		0.0116,0.0,0.0077	benign	280/322	5221093	1,12997	2201	4298	6499	SO:0001583	missense	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.838G>A	11.37:g.5221093C>T	ENSP00000321729:p.Val280Met			Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	0.367	-0.936392	0.02340	0.0	1.16E-4	ENSG00000176742	ENST00000321255	T	0.71934	-0.61	5.15	-10.3	0.00346	GPCR, rhodopsin-like superfamily (1);	1.832430	0.03207	N	0.175706	T	0.59500	0.2198	M	0.71036	2.16	0.09310	N	1	B	0.34161	0.439	B	0.29598	0.104	T	0.51585	-0.8687	10	0.48119	T	0.1	.	2.5027	0.04638	0.291:0.2728:0.3341:0.1021	.	280	Q9H2C8	O51V1_HUMAN	M	280	ENSP00000321729:V280M	ENSP00000321729:V280M	V	-	1	0	OR51V1	5177669	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-5.098000	0.00151	-5.117000	0.00021	-1.224000	0.01588	GTG		0.473	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1		NM_001004760	
PAX4	5078	hgsc.bcm.edu;ucsc.edu	37	7	127252007	127252007	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr7:127252007delA	ENST00000341640.2	-	7	944	c.739delT	c.(739-741)tctfs	p.S247fs	PAX4_ENST00000463946.1_Frame_Shift_Del_p.S245fs|PAX4_ENST00000378740.2_Frame_Shift_Del_p.S247fs|PAX4_ENST00000338516.3_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	255					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACCTGTGCAGAGATGATTCCT	0.567																																					Ovarian(113;737 1605 7858 27720 34092)												0													64.0	58.0	60.0					7																	127252007		2203	4300	6503	SO:0001589	frameshift_variant	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.739delT	7.37:g.127252007delA	ENSP00000339906:p.Ser247fs		O95161|Q6B0H0	Frame_Shift_Del	DEL	ENST00000341640.2	37	CCDS5797.1																																																																																				0.567	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			
PCDH9	5101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	67800364	67800364	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr13:67800364G>A	ENST00000377865.2	-	1	2343	c.2209C>T	c.(2209-2211)Ctg>Ttg	p.L737L	PCDH9_ENST00000328454.5_Silent_p.L737L|PCDH9_ENST00000456367.1_Silent_p.L737L|PCDH9_ENST00000544246.1_Silent_p.L737L|PCDH9_ENST00000377861.3_Silent_p.L737L			Q9HC56	PCDH9_HUMAN	protocadherin 9	737	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L737L(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTTCTTCCAGAGTAATGTTA	0.433																																																	1	Substitution - coding silent(1)	kidney(1)											144.0	137.0	139.0					13																	67800364		2203	4300	6503	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2209C>T	13.37:g.67800364G>A			A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	ENST00000377865.2	37	CCDS9444.1																																																																																				0.433	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1		NM_203487	
PCDHA5	56143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140202183	140202183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140202183G>T	ENST00000529859.1	+	1	823	c.823G>T	c.(823-825)Gaa>Taa	p.E275*	PCDHA5_ENST00000529619.1_Nonsense_Mutation_p.E275*|PCDHA5_ENST00000378126.3_Nonsense_Mutation_p.E275*|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	275	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.E275*(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAATAAGGAAATAGTGTA	0.328																																																	2	Substitution - Nonsense(2)	kidney(2)											43.0	45.0	44.0					5																	140202183		2203	4298	6501	SO:0001587	stop_gained	56143			AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.823G>T	5.37:g.140202183G>T	ENSP00000436557:p.Glu275*		O75284|Q8N4R3	Nonsense_Mutation	SNP	ENST00000529859.1	37	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026373	0.75390	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	.	.	.	4.11	4.11	0.48088	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.7192	0.85406	0.0:0.0:1.0:0.0	.	.	.	.	X	275	.	ENSP00000367366:E275X	E	+	1	0	PCDHA5	140182367	0.911000	0.30947	0.933000	0.37362	0.399000	0.30720	2.429000	0.44758	1.995000	0.58328	0.655000	0.94253	GAA		0.328	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2		NM_018908	
PCDHAC2	56134	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140347848	140347848	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140347848G>A	ENST00000289269.5	+	1	2029	c.1497G>A	c.(1495-1497)aaG>aaA	p.K499K	PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN	protocadherin alpha subfamily C, 2	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.K499K(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATGAAAAGGAGAATGCAG	0.507																																					Melanoma(190;638 2083 3390 11909 52360)												1	Substitution - coding silent(1)	kidney(1)											119.0	113.0	115.0					5																	140347848		2203	4300	6503	SO:0001819	synonymous_variant	56134			AF152474	CCDS4242.1	5q31	2010-11-26			ENSG00000243232	ENSG00000243232		"""Cadherins / Protocadherins : Clustered"""	8677	other	complex locus constituent		606321				10380929	Standard	NM_031883		Approved	PCDH-ALPHA-C2		Q9Y5I4	OTTHUMG00000129607	ENST00000289269.5:c.1497G>A	5.37:g.140347848G>A			Q2M3V1|Q9Y5F4	Silent	SNP	ENST00000289269.5	37	CCDS4242.1																																																																																				0.507	PCDHAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251802.2		NM_018899	
PCDHB10	56126	broad.mit.edu;hgsc.bcm.edu	37	5	140573503	140573503	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140573503G>T	ENST00000239446.4	+	1	1562	c.1378G>T	c.(1378-1380)Gtc>Ttc	p.V460F		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	460	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V460F(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACCCTGTTCGTCCGCGAGAA	0.637																																																	1	Substitution - Missense(1)	kidney(1)											44.0	50.0	48.0					5																	140573503		2203	4290	6493	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1378G>T	5.37:g.140573503G>T	ENSP00000239446:p.Val460Phe		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	g	9.117	1.007962	0.19199	.	.	ENSG00000120324	ENST00000239446	T	0.57436	0.4	3.22	-1.36	0.09085	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64057	0.2564	M	0.79123	2.44	0.09310	N	1	D	0.65815	0.995	D	0.69307	0.963	T	0.53229	-0.8468	9	0.72032	D	0.01	.	2.7858	0.05373	0.1771:0.3797:0.3148:0.1284	.	460	Q9UN67	PCDBA_HUMAN	F	460	ENSP00000239446:V460F	ENSP00000239446:V460F	V	+	1	0	PCDHB10	140553687	0.000000	0.05858	0.006000	0.13384	0.270000	0.26580	-0.534000	0.06150	-0.080000	0.12685	-1.205000	0.01647	GTC		0.637	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930	
PCDHB10	56126	broad.mit.edu;hgsc.bcm.edu	37	5	140573506	140573506	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr5:140573506C>T	ENST00000239446.4	+	1	1565	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R461C(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGTTCGTCCGCGAGAACAA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											44.0	50.0	48.0					5																	140573506		2203	4290	6493	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1381C>T	5.37:g.140573506C>T	ENSP00000239446:p.Arg461Cys		Q96T99	Missense_Mutation	SNP	ENST00000239446.4	37	CCDS4252.1	.	.	.	.	.	.	.	.	.	.	c	7.288	0.610515	0.14066	.	.	ENSG00000120324	ENST00000239446	T	0.01767	4.65	3.22	2.23	0.28157	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.04272	0.0118	M	0.80332	2.49	0.09310	N	1	B	0.28419	0.211	B	0.30572	0.117	T	0.11867	-1.0570	9	0.62326	D	0.03	.	11.7727	0.51968	0.1757:0.8243:0.0:0.0	.	461	Q9UN67	PCDBA_HUMAN	C	461	ENSP00000239446:R461C	ENSP00000239446:R461C	R	+	1	0	PCDHB10	140553690	0.000000	0.05858	0.081000	0.20488	0.363000	0.29612	0.121000	0.15667	1.819000	0.53055	0.549000	0.68633	CGC		0.632	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251821.1		NM_018930	
PGPEP1L	145814	hgsc.bcm.edu	37	15	99511804	99511805	+	Frame_Shift_Ins	INS	-	-	C	rs398043625|rs5814919	byFrequency	TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:99511804_99511805insC	ENST00000378919.6	-	5	698_699	c.493_494insG	c.(493-495)gtcfs	p.V165fs	PGPEP1L_ENST00000535714.1_Frame_Shift_Ins_p.V111fs|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	165							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						CTGGATGATGACTCTCAAGGCT	0.574													C|C|CC|insertion	2217	0.442692	0.1558	0.4914	5008	,	,		17754	0.4841		0.5716	False		,,,				2504	0.6207																0									,	816,2946		112,592,1177					,	1.6	0.2		dbSNP_114	44	4130,3796		1081,1968,914	no	frameshift,frameshift	PGPEP1L	NM_001167902.1,NM_001102612.2	,	1193,2560,2091	A1A1,A1R,RR		47.893,21.6906,42.3169	,	,		4946,6742				SO:0001589	frameshift_variant	145814				CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.494dupG	15.37:g.99511805_99511805dupC	ENSP00000368199:p.Val165fs		H0YF86	Frame_Shift_Ins	INS	ENST00000378919.6	37	CCDS53977.1																																																																																				0.574	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1		NM_001102612.2	
PHACTR4	65979	broad.mit.edu	37	1	28802704	28802704	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:28802704C>T	ENST00000373839.3	+	8	1768	c.1507C>T	c.(1507-1509)Cca>Tca	p.P503S	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P513S|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	503					actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)	p.P513S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTAAATTACCACAGTGTCT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											87.0	83.0	84.0					1																	28802704		1977	4162	6139	SO:0001583	missense	65979			AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.1507C>T	1.37:g.28802704C>T	ENSP00000362945:p.Pro503Ser		A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Missense_Mutation	SNP	ENST00000373839.3	37	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	C	16.25	3.070257	0.55539	.	.	ENSG00000204138	ENST00000373839;ENST00000373836;ENST00000373838	T;T	0.25912	1.77;1.77	5.42	5.42	0.78866	.	0.489196	0.19856	N	0.104539	T	0.44767	0.1309	M	0.61703	1.905	0.58432	D	0.999999	D;D	0.71674	0.991;0.998	P;P	0.58520	0.815;0.84	T	0.08743	-1.0707	10	0.27785	T	0.31	-4.1937	18.5582	0.91092	0.0:1.0:0.0:0.0	.	513;503	Q8IZ21-2;Q8IZ21	.;PHAR4_HUMAN	S	503;513;502	ENSP00000362945:P503S;ENSP00000362942:P513S	ENSP00000362942:P513S	P	+	1	0	PHACTR4	28675291	0.907000	0.30839	0.767000	0.31495	0.191000	0.23601	2.202000	0.42743	2.704000	0.92352	0.655000	0.94253	CCA		0.433	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4		NM_023923	
PIK3R5	23533	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8793400	8793400	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr17:8793400G>A	ENST00000447110.1	-	8	825	c.701C>T	c.(700-702)gCa>gTa	p.A234V	PIK3R5_ENST00000581552.1_Missense_Mutation_p.A234V|PIK3R5_ENST00000584803.1_Missense_Mutation_p.A234V	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	234				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122). {ECO:0000305}.	blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)	p.A234V(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGTGCCTCTGCGGTCTCCGT	0.627																																					NSCLC(18;589 615 7696 20311 50332)												1	Substitution - Missense(1)	kidney(1)											80.0	73.0	75.0					17																	8793400		2203	4300	6503	SO:0001583	missense	23533			AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.701C>T	17.37:g.8793400G>A	ENSP00000392812:p.Ala234Val		B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Missense_Mutation	SNP	ENST00000447110.1	37	CCDS11147.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392406	0.96009	.	.	ENSG00000141506	ENST00000269300;ENST00000447110	T	0.76709	-1.04	5.21	5.21	0.72293	.	0.312796	0.35805	N	0.002978	T	0.62563	0.2438	N	0.19112	0.55	0.20764	N	0.999853	B	0.06786	0.001	B	0.12837	0.008	T	0.34279	-0.9835	10	0.05351	T	0.99	-2.8799	17.3066	0.87197	0.0:0.0:1.0:0.0	.	234	Q8WYR1	PI3R5_HUMAN	V	234	ENSP00000392812:A234V	ENSP00000269300:A234V	A	-	2	0	PIK3R5	8734125	0.080000	0.21391	0.596000	0.28811	0.980000	0.70556	2.635000	0.46537	2.423000	0.82170	0.561000	0.74099	GCA		0.627	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2		NM_014308	
PNMA1	9240	hgsc.bcm.edu	37	14	74179715	74179716	+	Frame_Shift_Ins	INS	-	-	G	rs200824271		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:74179715_74179716insG	ENST00000316836.3	-	1	1412_1413	c.627_628insC	c.(625-630)cccgccfs	p.A210fs		NM_006029.4	NP_006020.4	Q8ND90	PNMA1_HUMAN	paraneoplastic Ma antigen 1	210					inflammatory response to antigenic stimulus (GO:0002437)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)		p.A210T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2)	13				BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797)		acatcagcggcggggcctctaa	0.559																																																	1	Substitution - Missense(1)	prostate(1)																																								SO:0001589	frameshift_variant	9240			AF037364	CCDS9818.1	14q24.3	2012-02-09	2012-02-09		ENSG00000176903	ENSG00000176903		"""Paraneoplastic Ma antigens"""	9158	protein-coding gene	gene with protein product		604010	"""paraneoplastic antigen MA1"""			10050892	Standard	NM_006029		Approved	MA1	uc001xor.1	Q8ND90	OTTHUMG00000169183	ENST00000316836.3:c.628dupC	14.37:g.74179719_74179719dupG	ENSP00000318914:p.Ala210fs		A8K4L5|O95144|Q8NG07	Frame_Shift_Ins	INS	ENST00000316836.3	37	CCDS9818.1																																																																																				0.559	PNMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402774.1		NM_006029	
TMEM199	147007	hgsc.bcm.edu	37	17	26684390	26684391	+	5'Flank	INS	-	-	C	rs11448856|rs67934205		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr17:26684390_26684391insC	ENST00000292114.3	+	0	0				POLDIP2_ENST00000540200.1_Frame_Shift_Ins_p.P28fs|TMEM199_ENST00000509083.1_5'Flank|TMEM199_ENST00000395404.3_5'Flank|POLDIP2_ENST00000003607.4_5'UTR|CTB-96E2.3_ENST00000591482.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199							integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GCACAGAGCGGCTTTGCCACCG	0.762													?|C|CC|unsure	5008	1.0	1.0	1.0	5008	,	,		11683	1.0		1.0	False		,,,				2504	1.0																0										2752,40		1369,14,13						3.8	0.1		dbSNP_130	4	6434,100		3190,54,23	no	frameshift	POLDIP2	NM_015584.3		4559,68,36	A1A1,A1R,RR		1.5305,1.4327,1.5012				9186,140				SO:0001631	upstream_gene_variant	26073			AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498		17.37:g.26684391_26684391dupC	Exception_encountered			Frame_Shift_Ins	INS	ENST00000292114.3	37	CCDS11228.1																																																																																				0.762	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2		NM_152464	
RHBDF1	64285	hgsc.bcm.edu	37	16	111871	111871	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:111871C>T	ENST00000262316.6	-	8	1275	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	RHBDF1_ENST00000454039.2_Missense_Mutation_p.R378Q	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	378					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)		p.R378Q(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GTTGGTGAGCCGTCCCACCAT	0.692																																																	1	Substitution - Missense(1)	kidney(1)											26.0	28.0	27.0					16																	111871		2198	4293	6491	SO:0001583	missense	64285			BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1133G>A	16.37:g.111871C>T	ENSP00000262316:p.Arg378Gln		Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	ENST00000262316.6	37	CCDS32344.1	.	.	.	.	.	.	.	.	.	.	.	18.96	3.734427	0.69189	.	.	ENSG00000007384	ENST00000262316;ENST00000454039	T;T	0.67698	0.6;-0.28	4.43	4.43	0.53597	.	0.212602	0.44688	D	0.000423	T	0.47097	0.1427	L	0.27053	0.805	0.32394	N	0.552889	P;D;B	0.60575	0.948;0.988;0.081	B;B;B	0.40285	0.325;0.311;0.011	T	0.58411	-0.7641	10	0.37606	T	0.19	-42.2471	6.3364	0.21298	0.0:0.7976:0.0:0.2024	.	378;401;378	F5GWL4;B4E3Q0;Q96CC6	.;.;RHDF1_HUMAN	Q	378	ENSP00000262316:R378Q;ENSP00000392133:R378Q	ENSP00000262316:R378Q	R	-	2	0	RHBDF1	51871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.137000	0.50562	2.448000	0.82819	0.462000	0.41574	CGG		0.692	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134178.2		NM_022450	
SENP6	26054	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76421100	76421100	+	Silent	SNP	A	A	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr6:76421100A>T	ENST00000447266.2	+	21	3355	c.2877A>T	c.(2875-2877)ggA>ggT	p.G959G	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370014.3_Silent_p.G959G|SENP6_ENST00000370010.2_Silent_p.G952G	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	959	Protease.				protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.G959G(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				CAGAAATAGGACAGTGGCATT	0.338																																																	2	Substitution - coding silent(2)	kidney(2)											93.0	93.0	93.0					6																	76421100		1901	4119	6020	SO:0001819	synonymous_variant	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.2877A>T	6.37:g.76421100A>T			A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Silent	SNP	ENST00000447266.2	37	CCDS47454.1																																																																																				0.338	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041272.2		NM_015571	
SERPINI1	5274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	167508254	167508254	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:167508254A>C	ENST00000295777.5	+	3	776	c.345A>C	c.(343-345)caA>caC	p.Q115H	SERPINI1_ENST00000446050.2_Missense_Mutation_p.Q115H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	115					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.Q115H(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TGTTTGTGCAAAATGGATTTC	0.348																																																	1	Substitution - Missense(1)	kidney(1)											92.0	96.0	95.0					3																	167508254		2203	4300	6503	SO:0001583	missense	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.345A>C	3.37:g.167508254A>C	ENSP00000295777:p.Gln115His		A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	A	18.93	3.726717	0.69074	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;T;T;T	0.88046	-2.33;-0.88;-0.88;-0.88	5.63	2.0	0.26442	Serpin domain (3);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.88938	0.3378	10	0.87932	D	0	.	8.4806	0.33040	0.538:0.0:0.462:0.0	.	115	Q99574	NEUS_HUMAN	H	115	ENSP00000420133:Q115H;ENSP00000397373:Q115H;ENSP00000295777:Q115H;ENSP00000420561:Q115H	ENSP00000295777:Q115H	Q	+	3	2	SERPINI1	168990948	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.623000	0.37008	0.111000	0.17947	-0.263000	0.10527	CAA		0.348	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1			
SLC25A33	84275	broad.mit.edu;hgsc.bcm.edu	37	1	9642417	9642417	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:9642417C>T	ENST00000302692.6	+	7	1034	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	275					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.A275V(1)		endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		GTCCAGACGGCGCGCCTGGTG	0.498																																																	1	Substitution - Missense(1)	kidney(1)											70.0	70.0	70.0					1																	9642417		2203	4300	6503	SO:0001583	missense	84275			AF495714	CCDS103.1	1p36.22	2013-05-22	2012-03-29		ENSG00000171612	ENSG00000171612		"""Solute carriers"""	29681	protein-coding gene	gene with protein product		610816	"""solute carrier family 25, member 33"""			14715278, 16949250	Standard	XM_005263503		Approved	MGC4399, BMSC-MCP, PNC1	uc001apw.3	Q9BSK2	OTTHUMG00000001322	ENST00000302692.6:c.824C>T	1.37:g.9642417C>T	ENSP00000306328:p.Ala275Val			Missense_Mutation	SNP	ENST00000302692.6	37	CCDS103.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.290714	0.59976	.	.	ENSG00000171612	ENST00000302692	T	0.78126	-1.15	5.54	5.54	0.83059	Mitochondrial carrier domain (2);	0.226564	0.45126	D	0.000384	T	0.62720	0.2451	N	0.25957	0.775	0.50313	D	0.999862	B	0.33379	0.41	B	0.29942	0.109	T	0.59679	-0.7409	10	0.16420	T	0.52	-12.5406	12.2112	0.54381	0.0:0.9224:0.0:0.0776	.	275	Q9BSK2	S2533_HUMAN	V	275	ENSP00000306328:A275V	ENSP00000306328:A275V	A	+	2	0	SLC25A33	9565004	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	4.182000	0.58310	2.767000	0.95098	0.555000	0.69702	GCG		0.498	SLC25A33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003851.2		NM_032315	
SLC30A8	169026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	118184908	118184909	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	CC	CC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr8:118184908_118184909delCC	ENST00000456015.2	+	8	1098_1099	c.1098_1099delCC	c.(1096-1101)gaccccfs	p.P367fs	SLC30A8_ENST00000521243.1_Frame_Shift_Del_p.P318fs|SLC30A8_ENST00000519688.1_Frame_Shift_Del_p.P318fs|SLC30A8_ENST00000427715.2_Frame_Shift_Del_p.P318fs	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	367					cellular zinc ion homeostasis (GO:0006882)|insulin secretion (GO:0030073)|positive regulation of insulin secretion (GO:0032024)|regulation of sequestering of zinc ion (GO:0061088)|regulation of vesicle-mediated transport (GO:0060627)|response to glucose (GO:0009749)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TCTGTGAAGACCCCTGTGACTA	0.46																																					Ovarian(162;1202 1922 6011 16223 52092)												0																																										SO:0001589	frameshift_variant	169026				CCDS6322.1, CCDS55272.1	8q24.11	2014-08-12			ENSG00000164756			"""Solute carriers"""	20303	protein-coding gene	gene with protein product		611145					Standard	NM_001172811		Approved		uc003yoh.3	Q8IWU4	OTTHUMG00000164962	ENST00000456015.2:c.1098_1099delCC	8.37:g.118184910_118184911delCC	ENSP00000415011:p.Pro367fs		A0AVP9|A5YM39|B4DPE0|Q8TCL3	Frame_Shift_Del	DEL	ENST00000456015.2	37	CCDS6322.1																																																																																				0.460	SLC30A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381205.1		NM_173851	
SLITRK3	22865	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	164905805	164905805	+	Silent	SNP	C	C	G	rs145516007	byFrequency	TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:164905805C>G	ENST00000475390.1	-	2	3257	c.2814G>C	c.(2812-2814)tcG>tcC	p.S938S	SLITRK3_ENST00000241274.3_Silent_p.S938S			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	938					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.S938S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTTCCAGCCGAGAAGAGAA	0.502										HNSCC(40;0.11)																																							1	Substitution - coding silent(1)	kidney(1)											175.0	174.0	174.0					3																	164905805		2203	4300	6503	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2814G>C	3.37:g.164905805C>G			Q1RMY6	Silent	SNP	ENST00000475390.1	37	CCDS3197.1																																																																																				0.502	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1		NM_014926	
SMC1A	8243	hgsc.bcm.edu	37	X	53430709	53430709	+	Splice_Site	SNP	C	C	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chrX:53430709C>G	ENST00000322213.4	-	14	2440	c.2313G>C	c.(2311-2313)caG>caC	p.Q771H		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	771					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.Q771H(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CCCTACCAACCTGGTTCATCT	0.532																																																	1	Substitution - Missense(1)	kidney(1)											179.0	132.0	148.0					X																	53430709		2203	4300	6503	SO:0001630	splice_region_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.2313+1G>C	X.37:g.53430709C>G			O14995|Q16351|Q2M228	Missense_Mutation	SNP	ENST00000322213.4	37	CCDS14352.1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233809	0.58886	.	.	ENSG00000072501	ENST00000322213	T	0.78003	-1.14	4.45	4.45	0.53987	RecF/RecN/SMC (1);	0.164120	0.41097	D	0.000948	T	0.80571	0.4648	M	0.61703	1.905	0.80722	D	1	B;B	0.33073	0.396;0.393	B;P	0.44359	0.289;0.447	T	0.78635	-0.2127	9	.	.	.	.	15.3885	0.74723	0.0:1.0:0.0:0.0	.	749;771	Q6MZR8;Q14683	.;SMC1A_HUMAN	H	771	ENSP00000323421:Q771H	.	Q	-	3	2	SMC1A	53447434	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.084000	0.64462	2.230000	0.72887	0.529000	0.55759	CAG		0.532	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2		NM_006306	Missense_Mutation
SPESP1	246777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	69238414	69238414	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr15:69238414G>C	ENST00000310673.3	+	2	695	c.541G>C	c.(541-543)Gtc>Ctc	p.V181L	RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	181					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)		p.V181F(1)|p.V181L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CAAGTCACCTGTCACCACTTT	0.448																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											124.0	121.0	122.0					15																	69238414		2200	4298	6498	SO:0001583	missense	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.541G>C	15.37:g.69238414G>C	ENSP00000312284:p.Val181Leu		Q8NG22|Q8WVH8	Missense_Mutation	SNP	ENST00000310673.3	37	CCDS10230.1	.	.	.	.	.	.	.	.	.	.	G	8.345	0.829606	0.16749	.	.	ENSG00000258484	ENST00000310673	T	0.26810	1.71	3.77	-5.33	0.02713	.	1.845360	0.03277	N	0.185649	T	0.12220	0.0297	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.15150	-1.0447	10	0.16420	T	0.52	4.9367	0.4776	0.00542	0.3815:0.1288:0.2022:0.2875	.	181	Q6UW49	SPESP_HUMAN	L	181	ENSP00000312284:V181L	ENSP00000312284:V181L	V	+	1	0	SPESP1	67025468	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.184000	0.09698	-1.117000	0.02965	-0.274000	0.10170	GTC		0.448	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257125.1		NM_145658	
SPTB	6710	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	65289684	65289684	+	Silent	SNP	G	G	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr14:65289684G>A	ENST00000389721.5	-	1	161	c.129C>T	c.(127-129)tcC>tcT	p.S43S	SPTB_ENST00000542895.1_Silent_p.S43S|SPTB_ENST00000389722.3_Silent_p.S43S|SPTB_ENST00000389720.3_Silent_p.S43S|SPTB_ENST00000556626.1_Silent_p.S43S	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	43	Actin-binding.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.S43S(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCTTTATCCGGGACCTCTCAA	0.577											OREG0022736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											126.0	113.0	117.0					14																	65289684		2203	4300	6503	SO:0001819	synonymous_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.129C>T	14.37:g.65289684G>A		1083	Q15510|Q15519	Silent	SNP	ENST00000389721.5	37	CCDS32100.1																																																																																				0.577	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			
TELO2	9894	broad.mit.edu;hgsc.bcm.edu	37	16	1557029	1557029	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr16:1557029A>G	ENST00000262319.6	+	18	2482	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	735					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)	p.M735V(1)		NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				AGGGGCCCTGATGTGCCTGGC	0.647																																																	1	Substitution - Missense(1)	kidney(1)											62.0	47.0	52.0					16																	1557029		2197	4299	6496	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.2203A>G	16.37:g.1557029A>G	ENSP00000262319:p.Met735Val		D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	ENST00000262319.6	37	CCDS32363.1	.	.	.	.	.	.	.	.	.	.	A	15.46	2.840489	0.51057	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.18174	2.23	4.62	4.62	0.57501	.	0.073354	0.85682	D	0.000000	T	0.31451	0.0797	M	0.70595	2.14	0.58432	D	0.999994	D	0.67145	0.996	P	0.60286	0.872	T	0.18808	-1.0325	10	0.07644	T	0.81	-50.1973	13.132	0.59389	1.0:0.0:0.0:0.0	.	735	Q9Y4R8	TELO2_HUMAN	V	258;735	ENSP00000262319:M735V	ENSP00000262319:M735V	M	+	1	0	TELO2	1497030	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	3.013000	0.49582	1.962000	0.57031	0.379000	0.24179	ATG		0.647	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103602.2		NM_016111	
TMEM155	132332	hgsc.bcm.edu;ucsc.edu	37	4	122682726	122682726	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr4:122682726delA	ENST00000337677.5	-	5	737	c.179delT	c.(178-180)ttgfs	p.L60fs	TMEM155_ENST00000394396.1_Frame_Shift_Del_p.L60fs|TMEM155_ENST00000394394.1_Frame_Shift_Del_p.L60fs	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	60						extracellular region (GO:0005576)				breast(1)|lung(5)	6						CAAGCGAACCAAAAACAAATC	0.388																																																	0													64.0	67.0	66.0					4																	122682726		2203	4300	6503	SO:0001589	frameshift_variant	132332			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.179delT	4.37:g.122682726delA	ENSP00000336987:p.Leu60fs		D3DNW9|Q96NI2	Frame_Shift_Del	DEL	ENST00000337677.5	37	CCDS3721.1																																																																																				0.388	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256637.2		NM_152399	
VCAM1	7412	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	101200121	101200121	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr1:101200121T>G	ENST00000294728.2	+	8	1957	c.1856T>G	c.(1855-1857)gTc>gGc	p.V619G	VCAM1_ENST00000370115.1_Missense_Mutation_p.V420G|VCAM1_ENST00000347652.2_Missense_Mutation_p.V527G|VCAM1_ENST00000370119.4_Missense_Mutation_p.V557G	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	619	Ig-like C2-type 7.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|amine metabolic process (GO:0009308)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-matrix adhesion (GO:0007160)|cellular response to glucose stimulus (GO:0071333)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chorio-allantoic fusion (GO:0060710)|chronic inflammatory response (GO:0002544)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte tethering or rolling (GO:0050901)|membrane to membrane docking (GO:0022614)|oxidation-reduction process (GO:0055114)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|viral process (GO:0016032)	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex (GO:0071065)|apical part of cell (GO:0045177)|cell surface (GO:0009986)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|podosome (GO:0002102)|sarcolemma (GO:0042383)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|primary amine oxidase activity (GO:0008131)	p.V619G(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GGAGACACTGTCATCATCTCT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											67.0	69.0	68.0					1																	101200121		2203	4300	6503	SO:0001583	missense	7412			M60335	CCDS773.1, CCDS774.1, CCDS55617.1	1p32-p31	2014-01-30			ENSG00000162692	ENSG00000162692		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	12663	protein-coding gene	gene with protein product		192225					Standard	NM_080682		Approved	CD106	uc001dti.3	P19320	OTTHUMG00000010982	ENST00000294728.2:c.1856T>G	1.37:g.101200121T>G	ENSP00000294728:p.Val619Gly		A8K6R7|B4DKS4|E9PDD1|Q6NUP8	Missense_Mutation	SNP	ENST00000294728.2	37	CCDS773.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.143122	0.77888	.	.	ENSG00000162692	ENST00000370119;ENST00000347652;ENST00000294728;ENST00000370115	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.87	5.87	0.94306	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.161614	0.56097	D	0.000031	T	0.65811	0.2727	M	0.90082	3.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.996;0.999	T	0.74147	-0.3759	10	0.87932	D	0	-17.3734	15.1469	0.72662	0.0:0.0:0.0:1.0	.	557;527;619	E9PDD1;P19320-2;P19320	.;.;VCAM1_HUMAN	G	557;527;619;420	ENSP00000359137:V557G;ENSP00000304611:V527G;ENSP00000294728:V619G;ENSP00000359133:V420G	ENSP00000294728:V619G	V	+	2	0	VCAM1	100972709	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.424000	0.52764	2.371000	0.80710	0.533000	0.62120	GTC		0.388	VCAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030213.1		NM_001078	
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Nonsense_Mutation	SNP	C	C	A	rs5030826		TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq;PacBio			Illumina GAIIx	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr3:10183725C>A	ENST00000256474.2	+	1	1034	c.194C>A	c.(193-195)tCg>tAg	p.S65*	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Nonsense_Mutation_p.S65*	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		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.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(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)		GTGCTGCGCTCGGTGAACTCG	0.721		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"""	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001587	stop_gained	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.194C>A	3.37:g.10183725C>A	ENSP00000256474:p.Ser65*		B2RE45|Q13599|Q6PDA9	Nonsense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.576281	0.86645	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	.	.	.	5.54	4.67	0.58626	.	0.055860	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	rs5030826	.	.	.	X	65	.	ENSP00000256474:S65X	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZBTB12	221527	broad.mit.edu;hgsc.bcm.edu	37	6	31867889	31867889	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5102-01A-01D-1421-08	TCGA-B0-5102-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	abea5e3e-705a-4d2c-b207-1ab43767a19b	f74efc75-f8a0-4192-ba8c-22922fc44b5c	g.chr6:31867889C>A	ENST00000375527.2	-	2	1369	c.1194G>T	c.(1192-1194)caG>caT	p.Q398H	C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000395728.3_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375537.4_5'Flank|EHMT2_ENST00000375528.4_5'Flank|EHMT2_ENST00000375530.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	398					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q398H(1)		endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GGGTGGACTTCTGTGTGAAGC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											128.0	86.0	100.0					6																	31867889		2203	4300	6503	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1194G>T	6.37:g.31867889C>A	ENSP00000364677:p.Gln398His		B0UY00|Q5JQ98	Missense_Mutation	SNP	ENST00000375527.2	37	CCDS4727.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655907	0.47467	.	.	ENSG00000204366	ENST00000375527	T	0.07327	3.2	3.82	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.073075	0.56097	U	0.000032	T	0.03783	0.0107	N	0.04636	-0.2	0.38027	D	0.935059	D	0.67145	0.996	D	0.81914	0.995	T	0.50092	-0.8868	10	0.27082	T	0.32	.	7.6359	0.28266	0.0:0.7843:0.0:0.2157	.	398	Q9Y330	ZBT12_HUMAN	H	398	ENSP00000364677:Q398H	ENSP00000364677:Q398H	Q	-	3	2	ZBTB12	31975868	0.993000	0.37304	0.950000	0.38849	0.904000	0.53231	0.628000	0.24522	0.592000	0.29728	0.313000	0.20887	CAG		0.607	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076315.2		NM_181842	
