#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
ALG13	79868	hgsc.bcm.edu;ucsc.edu	37	X	110951455	110951455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:110951455delT	ENST00000394780.3	+	4	596	c.584delT	c.(583-585)ctcfs	p.L195fs	ALG13-AS1_ENST00000430794.1_RNA|ALG13_ENST00000251943.4_Frame_Shift_Del_p.L91fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	195	Deubiquitinase activity.				cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TTTTTTCCTCTCCCTCTTACC	0.473																																																	0													122.0	102.0	108.0					X																	110951455		1568	3582	5150	SO:0001589	frameshift_variant	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.584delT	X.37:g.110951455delT	ENSP00000378260:p.Leu195fs		B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Frame_Shift_Del	DEL	ENST00000394780.3	37	CCDS55477.1																																																																																				0.473	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272895.1		NM_018466	
ALPP	250	broad.mit.edu	37	2	233246044	233246044	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:233246044G>T	ENST00000392027.2	+	10	1545	c.1276G>T	c.(1276-1278)Ggc>Tgc	p.G426C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	426					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)	p.G426C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTCAAGGACGGCGCCCGGCC	0.697																																																	1	Substitution - Missense(1)	kidney(1)											55.0	65.0	62.0					2																	233246044		2203	4300	6503	SO:0001583	missense	250			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1276G>T	2.37:g.233246044G>T	ENSP00000375881:p.Gly426Cys		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	ENST00000392027.2	37	CCDS2490.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281743	0.40394	.	.	ENSG00000163283	ENST00000392027	D	0.96232	-3.95	2.12	2.12	0.27331	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.353217	0.29093	N	0.013167	D	0.97601	0.9214	M	0.88450	2.955	0.39125	D	0.961731	D	0.69078	0.997	P	0.61275	0.886	D	0.97887	1.0295	10	0.66056	D	0.02	.	10.6872	0.45850	0.0:0.0:1.0:0.0	.	426	P05187	PPB1_HUMAN	C	426	ENSP00000375881:G426C	ENSP00000375881:G426C	G	+	1	0	ALPP	232954288	0.042000	0.20092	0.002000	0.10522	0.107000	0.19398	2.189000	0.42621	1.167000	0.42706	0.305000	0.20034	GGC		0.697	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3		NM_001632	
ALPPL2	251	broad.mit.edu	37	2	233274125	233274125	+	Missense_Mutation	SNP	G	G	T	rs145179673	byFrequency	TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:233274125G>T	ENST00000295453.3	+	10	1319	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	423					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)	p.G423C(1)		breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)	GCTCAAGGACGGCGCCCGGCC	0.692																																																	1	Substitution - Missense(1)	kidney(1)											16.0	12.0	14.0					2																	233274125		2097	4098	6195	SO:0001583	missense	251			J04948	CCDS2491.1	2q37	2008-05-20			ENSG00000163286	ENSG00000163286			441	protein-coding gene	gene with protein product		171810					Standard	NM_031313		Approved		uc002vss.4	P10696	OTTHUMG00000133257	ENST00000295453.3:c.1267G>T	2.37:g.233274125G>T	ENSP00000295453:p.Gly423Cys		A8KAF2|Q16727|Q53S81|Q96CM1	Missense_Mutation	SNP	ENST00000295453.3	37	CCDS2491.1	.	.	.	.	.	.	.	.	.	.	g	10.44	1.349760	0.24426	.	.	ENSG00000163286	ENST00000295453	D	0.96232	-3.95	2.54	0.391	0.16282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.353217	0.29093	N	0.013167	D	0.95217	0.8449	M	0.78223	2.4	0.09310	N	1	B	0.29232	0.238	B	0.38500	0.275	D	0.90817	0.4706	10	0.66056	D	0.02	.	6.6902	0.23167	0.0:0.3688:0.4428:0.1884	.	423	P10696	PPBN_HUMAN	C	423	ENSP00000295453:G423C	ENSP00000295453:G423C	G	+	1	0	ALPPL2	232982369	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	0.077000	0.14738	-0.062000	0.13088	0.205000	0.17691	GGC		0.692	ALPPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257034.2		NM_031313	
APC2	10297	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1461048	1461048	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:1461048A>G	ENST00000535453.1	+	12	3247	c.1534A>G	c.(1534-1536)Atc>Gtc	p.I512V	CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000233607.2_Missense_Mutation_p.I512V|APC2_ENST00000238483.4_Missense_Mutation_p.I238V			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)	p.I512V(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGTCCAGCATCCTTCGGAA	0.642																																																	1	Substitution - Missense(1)	kidney(1)											120.0	112.0	115.0					19																	1461048		2203	4300	6503	SO:0001583	missense	10297				CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1534A>G	19.37:g.1461048A>G	ENSP00000442954:p.Ile512Val		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Missense_Mutation	SNP	ENST00000535453.1	37	CCDS12068.1	.	.	.	.	.	.	.	.	.	.	A	4.012	-0.000481	0.07819	.	.	ENSG00000115266	ENST00000233607;ENST00000238483;ENST00000535453	T;T;T	0.64438	-0.1;0.78;-0.1	4.05	4.05	0.47172	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.50582	0.1624	N	0.01789	-0.72	0.39718	D	0.971438	D;D	0.61697	0.99;0.984	D;D	0.75484	0.986;0.967	T	0.52609	-0.8553	10	0.13108	T	0.6	-33.0742	11.9673	0.53042	1.0:0.0:0.0:0.0	.	511;512	O95996-3;O95996	.;APC2_HUMAN	V	512;238;512	ENSP00000233607:I512V;ENSP00000238483:I238V;ENSP00000442954:I512V	ENSP00000233607:I512V	I	+	1	0	APC2	1412048	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	3.163000	0.50763	1.703000	0.51240	0.459000	0.35465	ATC		0.642	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883	
APOBEC3F	200316	broad.mit.edu;hgsc.bcm.edu	37	22	39441014	39441014	+	Silent	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr22:39441014T>A	ENST00000308521.5	+	3	597	c.240T>A	c.(238-240)ccT>ccA	p.P80P	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q8IUX4	ABC3F_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	80	CMP/dCMP deaminase zinc-binding 1.				base conversion or substitution editing (GO:0016553)|cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral process (GO:0048525)|positive regulation of defense response to virus by host (GO:0002230)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|ribonucleoprotein complex (GO:0030529)	cytidine deaminase activity (GO:0004126)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.P80P(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					ACCAGCTGCCTGCTTACAAGT	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											97.0	76.0	83.0					22																	39441014		2203	4297	6500	SO:0001819	synonymous_variant	200316			BC038808	CCDS33648.1, CCDS33649.1	22q13.1-q13.2	2008-05-15			ENSG00000128394	ENSG00000128394		"""Apolipoprotein B mRNA editing enzymes"""	17356	protein-coding gene	gene with protein product		608993				11863358, 17121840	Standard	NM_145298		Approved	ARP8, BK150C2.4.MRNA, KA6	uc003aww.3	Q8IUX4	OTTHUMG00000151080	ENST00000308521.5:c.240T>A	22.37:g.39441014T>A			B0QYD4|Q45F03|Q6ICH3|Q7Z2N2|Q7Z2N5	Silent	SNP	ENST00000308521.5	37	CCDS33648.1																																																																																				0.582	APOBEC3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321216.1		NM_145298	
ADTRP	84830	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	11778959	11778959	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:11778959G>C	ENST00000414691.3	-	1	444	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	ADTRP_ENST00000379413.2_Missense_Mutation_p.L12V|ADTRP_ENST00000229583.5_Missense_Mutation_p.L12V	NM_032744.3	NP_116133.1	Q96IZ2	ADTRP_HUMAN	androgen-dependent TFPI-regulating protein	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L12V(1)									CTCAGAACAAGGAAGTGGTAT	0.468																																																	1	Substitution - Missense(1)	kidney(1)											182.0	168.0	173.0					6																	11778959		2203	4300	6503	SO:0001583	missense	0			AJ420520	CCDS4521.1, CCDS47374.1	6p24.1	2012-01-30	2012-01-27	2012-01-27	ENSG00000111863	ENSG00000111863			21214	protein-coding gene	gene with protein product	"""androgen-induced 1-like"""	614348	"""chromosome 6 open reading frame 105"""	C6orf105		21868574	Standard	NM_032744		Approved	dJ413H6.1, AIG1L	uc011dip.2	Q96IZ2	OTTHUMG00000014260	ENST00000414691.3:c.34C>G	6.37:g.11778959G>C	ENSP00000404416:p.Leu12Val		B2R7T9|B4DV39|Q5THW1	Missense_Mutation	SNP	ENST00000414691.3	37	CCDS4521.1	.	.	.	.	.	.	.	.	.	.	G	5.338	0.247670	0.10130	.	.	ENSG00000111863	ENST00000414691;ENST00000229583;ENST00000379413;ENST00000379415;ENST00000506810	T;T;T;T;T	0.29142	1.58;1.58;1.58;1.58;1.58	5.83	0.139	0.14798	.	0.586375	0.18441	N	0.141140	T	0.04452	0.0122	L	0.37466	1.105	0.29393	N	0.862459	B;B	0.28512	0.214;0.211	B;B	0.30029	0.055;0.11	T	0.39440	-0.9614	10	0.02654	T	1	-6.8402	1.9699	0.03404	0.1564:0.1216:0.4118:0.3102	.	12;12	Q96IZ2-2;Q96IZ2	.;ADTRP_HUMAN	V	12	ENSP00000404416:L12V;ENSP00000229583:L12V;ENSP00000368723:L12V;ENSP00000368726:L12V;ENSP00000422927:L12V	ENSP00000229583:L12V	L	-	1	0	C6orf105	11886945	1.000000	0.71417	0.150000	0.22450	0.040000	0.13550	0.846000	0.27682	-0.306000	0.08818	0.491000	0.48974	CTT		0.468	ADTRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039864.3		NM_032744	
ATXN1	6310	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	16328126	16328126	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:16328126T>C	ENST00000244769.4	-	8	1352	c.416A>G	c.(415-417)tAt>tGt	p.Y139C	ATXN1_ENST00000436367.1_Missense_Mutation_p.Y139C	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	139					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Y139C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				GAAGCTGGCATAGGTTCCACT	0.657																																																	1	Substitution - Missense(1)	kidney(1)											75.0	79.0	78.0					6																	16328126		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.416A>G	6.37:g.16328126T>C	ENSP00000244769:p.Tyr139Cys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	T	14.83	2.652063	0.47362	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.50813	0.73;0.73	5.11	5.11	0.69529	.	0.124052	0.56097	D	0.000027	T	0.59838	0.2223	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.65573	0.936	T	0.67031	-0.5773	10	0.87932	D	0	-19.0477	14.908	0.70735	0.0:0.0:0.0:1.0	.	139	P54253	ATX1_HUMAN	C	139	ENSP00000244769:Y139C;ENSP00000416360:Y139C	ENSP00000244769:Y139C	Y	-	2	0	ATXN1	16436105	1.000000	0.71417	0.999000	0.59377	0.108000	0.19459	4.687000	0.61708	1.925000	0.55765	0.383000	0.25322	TAT		0.657	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3		NM_000332	
FAM221A	340277	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	23737866	23737866	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:23737866C>A	ENST00000344962.4	+	5	782	c.693C>A	c.(691-693)ttC>ttA	p.F231L	FAM221A_ENST00000409192.3_Intron|FAM221A_ENST00000409653.1_Missense_Mutation_p.F173L|FAM221A_ENST00000409994.3_Intron	NM_199136.3	NP_954587.2	A4D161	F221A_HUMAN	family with sequence similarity 221, member A	231								p.F231L(1)									ACAGCCCATTCCTAAAAGCAT	0.338																																																	1	Substitution - Missense(1)	kidney(1)											133.0	136.0	135.0					7																	23737866		2203	4299	6502	SO:0001583	missense	0				CCDS5385.1, CCDS47561.1, CCDS47562.1, CCDS75570.1	7p15.3	2012-04-02	2012-04-02	2012-04-02	ENSG00000188732	ENSG00000188732			27977	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 46"""	C7orf46		12477932	Standard	XR_242080		Approved	FLJ45875, MGC72075, DKFZp686F0810	uc003swo.4	A4D161	OTTHUMG00000128463	ENST00000344962.4:c.693C>A	7.37:g.23737866C>A	ENSP00000342576:p.Phe231Leu		Q05CG4|Q4G0Q7|Q6P519	Missense_Mutation	SNP	ENST00000344962.4	37	CCDS5385.1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711143	0.68730	.	.	ENSG00000188732	ENST00000344962;ENST00000409653	T;T	0.25085	1.94;1.82	5.96	-0.752	0.11072	.	0.000000	0.85682	D	0.000000	T	0.46946	0.1419	M	0.80183	2.485	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.50482	-0.8823	10	0.62326	D	0.03	-17.3659	11.6552	0.51313	0.0:0.4507:0.0:0.5493	.	231	A4D161	CG046_HUMAN	L	231;173	ENSP00000342576:F231L;ENSP00000386900:F173L	ENSP00000342576:F231L	F	+	3	2	C7orf46	23704391	0.987000	0.35691	0.996000	0.52242	0.669000	0.39330	0.458000	0.21892	-0.037000	0.13646	-0.302000	0.09304	TTC		0.338	FAM221A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250261.1		NM_199136	
CACNA1G	8913	broad.mit.edu;ucsc.edu	37	17	48703477	48703477	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:48703477T>A	ENST00000359106.5	+	38	6499	c.6499T>A	c.(6499-6501)Tac>Aac	p.Y2167N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.Y2081N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.Y2111N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.Y2067N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.Y2077N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.Y2074N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.Y2156N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000503485.1_Missense_Mutation_p.Y2040N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.Y2033N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.Y2088N|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000514181.1_Missense_Mutation_p.Y2049N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.Y2104N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.Y2133N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.Y2017N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.Y2056N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.Y2063N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.Y2040N|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000513964.1_Missense_Mutation_p.Y2029N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.Y2122N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.Y2096N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.Y2051N|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000510366.1_Missense_Mutation_p.Y2022N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2167					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.Y2167N(2)|p.Y2133N(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGCCCGGGCCTACTCTTTCTG	0.662											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					3	Substitution - Missense(3)	kidney(3)											25.0	33.0	31.0					17																	48703477		2041	4168	6209	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6499T>A	17.37:g.48703477T>A	ENSP00000352011:p.Tyr2167Asn	956	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	t	7.863	0.726545	0.15439	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000359106;ENST00000429973;ENST00000515411	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96427	-3.9;-3.9;-3.85;-3.9;-3.91;-3.92;-4.01;-3.97;-3.98;-4.0;-3.87;-3.87;-3.95;-3.89;-3.85;-3.92;-3.89;-3.87;-3.92;-3.87;-3.93;-3.87	5.31	-3.58	0.04597	.	2.284100	0.02572	U	0.097877	D	0.89584	0.6757	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.14012	0.009;0.001;0.001;0.003;0.001;0.003;0.003;0.001;0.003;0.001;0.002;0.002;0.001;0.001;0.001;0.009;0.001;0.001;0.009;0.001;0.004;0.001	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.20384	0.013;0.01;0.01;0.017;0.01;0.013;0.017;0.01;0.017;0.023;0.017;0.013;0.01;0.01;0.01;0.029;0.01;0.005;0.013;0.007;0.008;0.005	T	0.81972	-0.0688	10	0.25751	T	0.34	.	2.8869	0.05664	0.1668:0.0723:0.2645:0.4964	.	2017;2029;2022;2104;2077;2049;2081;2040;2067;2096;2063;2156;2056;2111;2074;2144;2122;2040;2033;2088;2051;2167	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN	N	2051;2040;2133;2033;2096;2063;2029;2017;2022;2040;2122;2156;2077;2067;2088;2074;2049;2111;2081;2167;2056;2104	ENSP00000353990:Y2051N;ENSP00000339302:Y2040N;ENSP00000347078:Y2133N;ENSP00000409759:Y2033N;ENSP00000425522:Y2096N;ENSP00000426261:Y2063N;ENSP00000425451:Y2029N;ENSP00000422407:Y2017N;ENSP00000426814:Y2022N;ENSP00000427238:Y2040N;ENSP00000423112:Y2122N;ENSP00000420918:Y2156N;ENSP00000426172:Y2077N;ENSP00000423045:Y2067N;ENSP00000427173:Y2088N;ENSP00000426098:Y2074N;ENSP00000425698:Y2049N;ENSP00000426232:Y2111N;ENSP00000423317:Y2081N;ENSP00000352011:Y2167N;ENSP00000414388:Y2056N;ENSP00000423155:Y2104N	ENSP00000339302:Y2040N	Y	+	1	0	CACNA1G	46058476	0.029000	0.19370	0.556000	0.28293	0.888000	0.51559	0.219000	0.17641	-0.671000	0.05274	0.379000	0.24179	TAC		0.662	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1		NM_018896	
CAPN1	823	hgsc.bcm.edu	37	11	64972256	64972260	+	Frame_Shift_Del	DEL	TTATG	TTATG	-	rs370475728		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	TTATG	TTATG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:64972256_64972260delTTATG	ENST00000527323.1	+	10	1508_1512	c.1268_1272delTTATG	c.(1267-1272)cttatgfs	p.LM423fs	CAPN1_ENST00000279247.6_Frame_Shift_Del_p.LM423fs|CAPN1_ENST00000533129.1_Frame_Shift_Del_p.LM423fs|CAPN1_ENST00000533820.1_Frame_Shift_Del_p.LM423fs|CAPN1_ENST00000524773.1_Frame_Shift_Del_p.LM423fs			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	423	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GTGCTCGCCCTTATGCAGAAGCACC	0.629											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1268_1272delTTATG	11.37:g.64972256_64972260delTTATG	ENSP00000431984:p.Leu423fs	1080	Q2TTR0|Q6DHV4	Frame_Shift_Del	DEL	ENST00000527323.1	37	CCDS44644.1																																																																																				0.629	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																																	0									,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347	
CD93	22918	broad.mit.edu;hgsc.bcm.edu	37	20	23066499	23066499	+	Silent	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr20:23066499G>A	ENST00000246006.4	-	1	478	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.L111L(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AAGCCCTTCAGCGGCAGACTA	0.632																																																	1	Substitution - coding silent(1)	kidney(1)											19.0	17.0	18.0					20																	23066499		2193	4292	6485	SO:0001819	synonymous_variant	22918			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.331C>T	20.37:g.23066499G>A			O00274	Silent	SNP	ENST00000246006.4	37	CCDS13149.1																																																																																				0.632	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2		NM_012072	
CDC23	8697	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	137524758	137524758	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr5:137524758G>C	ENST00000394886.2	-	16	1733	c.1703C>G	c.(1702-1704)cCt>cGt	p.P568R		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	568					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)	p.P562R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAAGGGAGCAGGCACCTCGGT	0.522																																																	1	Substitution - Missense(1)	kidney(1)											213.0	192.0	199.0					5																	137524758		2203	4300	6503	SO:0001583	missense	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1703C>G	5.37:g.137524758G>C	ENSP00000378350:p.Pro568Arg		A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661613	0.29515	.	.	ENSG00000094880	ENST00000394886	T	0.41758	0.99	5.29	5.29	0.74685	.	0.276584	0.42682	D	0.000662	T	0.26304	0.0642	N	0.08118	0	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06991	-1.0796	10	0.19147	T	0.46	-8.7203	19.1135	0.93328	0.0:0.0:1.0:0.0	.	568	Q9UJX2	CDC23_HUMAN	R	568	ENSP00000378350:P568R	ENSP00000378350:P568R	P	-	2	0	CDC23	137552657	1.000000	0.71417	1.000000	0.80357	0.200000	0.23975	6.628000	0.74262	2.757000	0.94681	0.462000	0.41574	CCT		0.522	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			
CDKL5	6792	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	18622979	18622979	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:18622979G>C	ENST00000379989.3	+	13	2220	c.1935G>C	c.(1933-1935)ttG>ttC	p.L645F	CDKL5_ENST00000379996.3_Missense_Mutation_p.L645F|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	645					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.L645F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TGCAACTCTTGTCACCCCAGG	0.532																																																	1	Substitution - Missense(1)	kidney(1)											150.0	135.0	140.0					X																	18622979		2203	4300	6503	SO:0001583	missense	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.1935G>C	X.37:g.18622979G>C	ENSP00000369325:p.Leu645Phe		G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481952	0.44147	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.80909	-1.43;-1.43	5.83	3.11	0.35812	.	0.064922	0.64402	D	0.000007	T	0.75946	0.3919	L	0.36672	1.1	0.33977	D	0.647535	P	0.52577	0.954	P	0.49637	0.617	T	0.79650	-0.1715	10	0.87932	D	0	-4.3291	7.9369	0.29935	0.7848:0.0:0.2152:0.0	.	645	O76039	CDKL5_HUMAN	F	645	ENSP00000369332:L645F;ENSP00000369325:L645F	ENSP00000369325:L645F	L	+	3	2	CDKL5	18532900	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	1.071000	0.30666	0.198000	0.20407	-0.380000	0.06706	TTG		0.532	CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2		NM_003159	
CELA3A	10136	broad.mit.edu;ucsc.edu	37	1	22336337	22336337	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:22336337A>G	ENST00000290122.3	+	7	801	c.782A>G	c.(781-783)gAc>gGc	p.D261G	RNU6-776P_ENST00000364403.1_RNA|RN7SL186P_ENST00000466485.2_RNA	NM_005747.4	NP_005738.4	P09093	CEL3A_HUMAN	chymotrypsin-like elastase family, member 3A	261	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cholesterol metabolic process (GO:0008203)|digestion (GO:0007586)|proteolysis (GO:0006508)		serine-type endopeptidase activity (GO:0004252)	p.D261G(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCTTCATCGACTGGATTGAG	0.602																																																	1	Substitution - Missense(1)	kidney(1)											59.0	58.0	59.0					1																	22336337		2203	4300	6503	SO:0001583	missense	10136			D00306	CCDS220.1	1p36.12	2009-05-05	2009-05-05	2009-05-05	ENSG00000142789	ENSG00000142789			15944	protein-coding gene	gene with protein product	"""protease E"""		"""elastase 3A, pancreatic (protease E)"", ""elastase 3A, pancreatic"""	ELA3A		2826474, 2460440	Standard	NM_005747		Approved	ELA3		P09093	OTTHUMG00000002755	ENST00000290122.3:c.782A>G	1.37:g.22336337A>G	ENSP00000290122:p.Asp261Gly		B1AQ53|Q9BRW4	Missense_Mutation	SNP	ENST00000290122.3	37	CCDS220.1	.	.	.	.	.	.	.	.	.	.	A	2.435	-0.330051	0.05314	.	.	ENSG00000142789	ENST00000290122;ENST00000400271	T;T	0.20598	2.06;2.06	3.65	2.51	0.30379	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	T	0.14527	0.0351	L	0.31845	0.965	0.09310	N	0.999999	B	0.10296	0.003	B	0.16722	0.016	T	0.27123	-1.0083	9	0.51188	T	0.08	-33.6676	3.715	0.08434	0.6554:0.2241:0.1205:0.0	.	261	P09093	CEL3A_HUMAN	G	261;69	ENSP00000290122:D261G;ENSP00000383130:D69G	ENSP00000290122:D261G	D	+	2	0	CELA3A	22208924	0.005000	0.15991	0.342000	0.25602	0.049000	0.14656	0.220000	0.17660	0.472000	0.27344	0.374000	0.22700	GAC		0.602	CELA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007791.1		NM_005747	
CHRAC1	54108	broad.mit.edu	37	8	141521619	141521619	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:141521619delT	ENST00000220913.5	+	1	223	c.21delT	c.(19-21)ggtfs	p.G7fs	CHRAC1_ENST00000519533.1_Frame_Shift_Del_p.G7fs	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	7					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGGTCGTGGGTAAAGACAAGG	0.697																																																	0													16.0	14.0	15.0					8																	141521619		2174	4285	6459	SO:0001589	frameshift_variant	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.21delT	8.37:g.141521619delT	ENSP00000220913:p.Gly7fs			Frame_Shift_Del	DEL	ENST00000220913.5	37	CCDS6379.1																																																																																				0.697	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1		NM_017444	
CPAMD8	27151	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	17010350	17010350	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:17010350T>G	ENST00000443236.1	-	37	4956	c.4925A>C	c.(4924-4926)gAc>gCc	p.D1642A	CPAMD8_ENST00000597335.1_5'Flank	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1595						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.D1642A(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATGTGCTTGTCAAGGAGCAG	0.577																																																	1	Substitution - Missense(1)	kidney(1)											65.0	73.0	71.0					19																	17010350		2084	4225	6309	SO:0001583	missense	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4925A>C	19.37:g.17010350T>G	ENSP00000402505:p.Asp1642Ala		Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.01|18.01	3.527506|3.527506	0.64860|0.64860	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	2.88|2.88	1.84|1.84	0.25277|0.25277	Alpha-macroglobulin, receptor-binding (3);|.	0.542373|.	0.17729|.	U|.	0.163970|.	T|T	0.56978|0.56978	0.2022|0.2022	L|L	0.55481|0.55481	1.735|1.735	0.80722|0.80722	D|D	1|1	P|.	0.38280|.	0.625|.	B|.	0.39971|.	0.315|.	T|T	0.48479|0.48479	-0.9032|-0.9032	9|5	0.42905|.	T|.	0.14|.	.|.	7.7676|7.7676	0.28988|0.28988	0.0:0.1059:0.0:0.8941|0.0:0.1059:0.0:0.8941	.|.	1595|.	Q8IZJ3|.	CPMD8_HUMAN|.	A|P	1642|1653	.|.	ENSP00000291440:D1642A|.	D|T	-|-	2|1	0|0	CPAMD8|CPAMD8	16871350|16871350	1.000000|1.000000	0.71417|0.71417	0.247000|0.247000	0.24249|0.24249	0.858000|0.858000	0.48976|0.48976	4.101000|4.101000	0.57769|0.57769	0.194000|0.194000	0.20326|0.20326	0.444000|0.444000	0.29173|0.29173	GAC|ACA		0.577	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2		NM_015692	
CTNNA1	1495	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	138269640	138269640	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr5:138269640G>A	ENST00000302763.7	+	18	2673	c.2583G>A	c.(2581-2583)atG>atA	p.M861I	CTNNA1_ENST00000355078.5_Missense_Mutation_p.M758I|CTNNA1_ENST00000518825.1_3'UTR|CTNNA1_ENST00000540387.1_Missense_Mutation_p.M491I	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	861					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.M861I(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATGGAAGATGAAGGCACCAG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											92.0	79.0	83.0					5																	138269640		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.2583G>A	5.37:g.138269640G>A	ENSP00000304669:p.Met861Ile		Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816285	0.90790	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000540387;ENST00000520520	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	M	0.72353	2.195	0.80722	D	1	D;P	0.65815	0.995;0.955	D;P	0.70227	0.968;0.876	T	0.59343	-0.7472	10	0.27785	T	0.31	-15.655	17.5312	0.87815	0.0:0.0:1.0:0.0	.	738;861	B4DKT9;P35221	.;CTNA1_HUMAN	I	758;861;884;846;491;91	ENSP00000347190:M758I;ENSP00000304669:M861I;ENSP00000438476:M491I;ENSP00000430076:M91I	ENSP00000304669:M861I	M	+	3	0	CTNNA1	138297539	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.596000	0.98267	2.454000	0.82982	0.561000	0.74099	ATG		0.502	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1		NM_001903	
CUL4B	8450	broad.mit.edu;ucsc.edu	37	X	119694026	119694026	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:119694026G>T	ENST00000404115.3	-	3	923	c.522C>A	c.(520-522)aaC>aaA	p.N174K	CUL4B_ENST00000336592.6_Missense_Mutation_p.N161K|CUL4B_ENST00000371322.5_Missense_Mutation_p.N156K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	174	Ser-rich.				cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.N174K(1)|p.N156K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGCTAGGCCGTTTGCATGAT	0.448																																																	2	Substitution - Missense(2)	kidney(2)											112.0	103.0	106.0					X																	119694026		2203	4300	6503	SO:0001583	missense	8450			U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.522C>A	X.37:g.119694026G>T	ENSP00000384109:p.Asn174Lys		B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892570	0.52121	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.68765	-0.34;-0.34;-0.35	5.4	1.63	0.23807	.	0.198344	0.51477	D	0.000083	T	0.72503	0.3468	L	0.55990	1.75	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	T	0.68345	-0.5433	9	.	.	.	-14.0422	6.9502	0.24540	0.5509:0.0:0.4491:0.0	.	174;156	Q13620;Q13620-1	CUL4B_HUMAN;.	K	156;161;174	ENSP00000360373:N156K;ENSP00000338919:N161K;ENSP00000384109:N174K	.	N	-	3	2	CUL4B	119578054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.258000	0.43249	0.487000	0.27698	0.436000	0.28706	AAC		0.448	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1		NM_003588	
CYP27B1	1594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	58158259	58158259	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:58158259C>T	ENST00000228606.4	-	6	1247	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E	CYP27B1_ENST00000546496.1_5'Flank	NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	346					bone mineralization (GO:0030282)|calcitriol biosynthetic process from calciol (GO:0036378)|calcium ion homeostasis (GO:0055074)|calcium ion transport (GO:0006816)|decidualization (GO:0046697)|G1 to G0 transition (GO:0070314)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of vitamin D 24-hydroxylase activity (GO:0010980)|positive regulation of vitamin D receptor signaling pathway (GO:0070564)|regulation of bone mineralization (GO:0030500)|response to estrogen (GO:0043627)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	calcidiol 1-monooxygenase activity (GO:0004498)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.E346E(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Alfacalcidol(DB01436)|Calcidiol(DB00146)|Corticotropin(DB01285)|Ergocalciferol(DB00153)	CAGCTGTGATCTCTGAGTGGA	0.582																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	125.0	124.0					12																	58158259		2203	4300	6503	SO:0001819	synonymous_variant	1594			AB006987	CCDS8954.1	12q14.1	2013-11-13	2003-01-14		ENSG00000111012	ENSG00000111012		"""Cytochrome P450s"""	2606	protein-coding gene	gene with protein product	"""VDDR I"", ""1alpha(OH)ase"", ""25-Hydroxyvitamin D3 1alpha-hydroxylase"""	609506	"""cytochrome P450, subfamily XXVIIB (25-hydroxyvitamin D-1-alpha-hydroxylase), polypeptide 1"""	VDD1, PDDR		9295274, 9344864	Standard	NM_000785		Approved	CYP1, P450c1	uc001spz.1	O15528	OTTHUMG00000170457	ENST00000228606.4:c.1038G>A	12.37:g.58158259C>T			B2RC61|Q548T3	Silent	SNP	ENST00000228606.4	37	CCDS8954.1																																																																																				0.582	CYP27B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409248.1		NM_000785	
CYTH3	9265	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6226736	6226736	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:6226736T>G	ENST00000350796.3	-	4	330	c.194A>C	c.(193-195)cAg>cCg	p.Q65P		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	65					establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)	p.Q65P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TTTGTTCCTCTGAGTCGTTTT	0.443																																																	1	Substitution - Missense(1)	kidney(1)											273.0	251.0	259.0					7																	6226736		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.194A>C	7.37:g.6226736T>G	ENSP00000297044:p.Gln65Pro		A4D2N8	Missense_Mutation	SNP	ENST00000350796.3	37	CCDS5346.1	.	.	.	.	.	.	.	.	.	.	T	16.63	3.177962	0.57692	.	.	ENSG00000008256	ENST00000350796	T	0.30448	1.53	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.31670	0.0804	L	0.54863	1.705	0.80722	D	1	B	0.10296	0.003	B	0.11329	0.006	T	0.05068	-1.0908	10	0.38643	T	0.18	.	14.8209	0.70070	0.0:0.0:0.0:1.0	.	65	O43739-2	.	P	65	ENSP00000297044:Q65P	ENSP00000297044:Q65P	Q	-	2	0	CYTH3	6193261	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.588000	0.82629	2.198000	0.70561	0.533000	0.62120	CAG		0.443	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207396.2		NM_004227	
DNAH1	25981	broad.mit.edu;ucsc.edu	37	3	52393986	52393986	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:52393986G>C	ENST00000420323.2	+	27	4723	c.4462G>C	c.(4462-4464)Gtg>Ctg	p.V1488L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1488	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.V1488L(2)		cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCAGCGGGCAGTGCTGTCAGC	0.572																																																	2	Substitution - Missense(2)	kidney(2)											166.0	174.0	172.0					3																	52393986		2161	4260	6421	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.4462G>C	3.37:g.52393986G>C	ENSP00000401514:p.Val1488Leu		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	ENST00000420323.2	37	CCDS46842.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571043	0.45798	.	.	ENSG00000114841	ENST00000420323	T	0.58060	0.36	5.13	5.13	0.70059	.	0.000000	0.46758	D	0.000266	T	0.42291	0.1196	L	0.39020	1.185	0.39501	D	0.968207	B	0.28552	0.215	B	0.25614	0.062	T	0.42241	-0.9463	10	0.51188	T	0.08	.	12.1372	0.53979	0.078:0.0:0.922:0.0	.	1488	C9JXH6	.	L	1488	ENSP00000401514:V1488L	ENSP00000401514:V1488L	V	+	1	0	DNAH1	52369026	0.997000	0.39634	0.965000	0.40720	0.627000	0.37826	2.569000	0.45973	2.677000	0.91161	0.561000	0.74099	GTG		0.572	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1		NM_015512	
DNAH8	1769	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	38891824	38891824	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:38891824T>G	ENST00000359357.3	+	71	10451	c.10197T>G	c.(10195-10197)aaT>aaG	p.N3399K	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.N3363K|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3616K			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3399					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.N3399K(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GTCCTTTCAATCAGATATTTA	0.418																																																	2	Substitution - Missense(2)	kidney(2)											189.0	182.0	185.0					6																	38891824		2203	4300	6503	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.10197T>G	6.37:g.38891824T>G	ENSP00000352312:p.Asn3399Lys		O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37		.	.	.	.	.	.	.	.	.	.	T	22.7	4.319226	0.81469	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.73897	-0.79;-0.79;-0.79	6.06	-0.555	0.11807	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.82171	0.4979	M	0.89658	3.05	0.58432	D	0.999998	D	0.89917	1.0	D	0.91635	0.999	D	0.83475	0.0061	10	0.62326	D	0.03	.	10.6324	0.45545	0.0:0.3096:0.0:0.6904	.	3399	Q96JB1	DYH8_HUMAN	K	3604;3604;3399;3363	ENSP00000333363:N3604K;ENSP00000352312:N3399K;ENSP00000402294:N3363K	ENSP00000333363:N3604K	N	+	3	2	DNAH8	38999802	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	0.650000	0.24858	-0.043000	0.13513	-0.290000	0.09829	AAT		0.418	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1		NM_001206927	
DNAH9	1770	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	11648206	11648206	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:11648206G>T	ENST00000262442.4	+	31	6272	c.6204G>T	c.(6202-6204)caG>caT	p.Q2068H	DNAH9_ENST00000454412.2_Missense_Mutation_p.Q2068H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2068					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.Q2068H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGAGGACCAGGTCCTGATGC	0.607																																																	1	Substitution - Missense(1)	kidney(1)											63.0	56.0	59.0					17																	11648206		2203	4300	6503	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6204G>T	17.37:g.11648206G>T	ENSP00000262442:p.Gln2068His		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497806	0.64186	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.27256	1.72;1.68	5.46	-5.7	0.02421	.	2.406600	0.01752	N	0.029979	T	0.50616	0.1626	M	0.68593	2.085	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.64841	-0.6312	10	0.51188	T	0.08	.	17.8215	0.88652	0.2516:0.0:0.7484:0.0	.	2068	Q9NYC9	DYH9_HUMAN	H	2068;2068;650	ENSP00000262442:Q2068H;ENSP00000414874:Q2068H	ENSP00000262442:Q2068H	Q	+	3	2	DNAH9	11588931	0.883000	0.30277	0.893000	0.35052	0.986000	0.74619	-0.032000	0.12266	-1.212000	0.02620	-0.303000	0.09236	CAG		0.607	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2		NM_001372	
EIF4A2	1974	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	186504360	186504360	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:186504360A>C	ENST00000323963.5	+	7	761	c.697A>C	c.(697-699)Att>Ctt	p.I233L	EIF4A2_ENST00000440191.2_Missense_Mutation_p.I234L|SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Missense_Mutation_p.I138L|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA|SNORD2_ENST00000459163.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	233	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)	p.I233L(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GAGAGATCCAATTCGAATTCT	0.348			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	1	Substitution - Missense(1)	kidney(1)											99.0	101.0	101.0					3																	186504360		2203	4299	6502	SO:0001583	missense	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.697A>C	3.37:g.186504360A>C	ENSP00000326381:p.Ile233Leu		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Missense_Mutation	SNP	ENST00000323963.5	37	CCDS3282.1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459382	0.43634	.	.	ENSG00000156976	ENST00000323963;ENST00000440191;ENST00000356531	T;T;T	0.04654	3.58;3.58;3.58	5.06	5.06	0.68205	DEAD-like helicase (2);	0.095216	0.64402	D	0.000001	T	0.05914	0.0154	N	0.25485	0.75	0.53005	D	0.999968	B;B;B;B	0.26809	0.16;0.043;0.014;0.028	B;B;B;B	0.34452	0.183;0.054;0.103;0.048	T	0.37174	-0.9717	10	0.72032	D	0.01	-9.0749	13.0926	0.59174	1.0:0.0:0.0:0.0	.	89;138;234;233	B4DJX6;Q9NZE6;Q14240-2;Q14240	.;.;.;IF4A2_HUMAN	L	233;234;138	ENSP00000326381:I233L;ENSP00000398370:I234L;ENSP00000348925:I138L	ENSP00000326381:I233L	I	+	1	0	EIF4A2	187987054	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.988000	0.56951	2.254000	0.74563	0.528000	0.53228	ATT		0.348	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1		NM_001967	
FAM46D	169966	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	79698411	79698411	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:79698411A>T	ENST00000308293.5	+	3	612	c.373A>T	c.(373-375)Atc>Ttc	p.I125F	FAM46D_ENST00000538312.1_Missense_Mutation_p.I125F	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	125								p.I125F(1)		kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						CTCCCCAGATATCATGAAAGA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											105.0	101.0	102.0					X																	79698411		2203	4299	6502	SO:0001583	missense	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.373A>T	X.37:g.79698411A>T	ENSP00000308575:p.Ile125Phe		B2R9Q6|Q7Z3F6|Q8NHU1	Missense_Mutation	SNP	ENST00000308293.5	37	CCDS14446.1	.	.	.	.	.	.	.	.	.	.	A	10.03	1.239618	0.22711	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	T;T	0.22539	1.95;1.95	4.27	3.02	0.34903	Domain of unknown function DUF1693 (1);	0.180912	0.48286	D	0.000193	T	0.19366	0.0465	N	0.22421	0.69	0.23186	N	0.998155	P	0.35821	0.523	P	0.45377	0.478	T	0.11179	-1.0598	10	0.87932	D	0	-0.0058	9.1703	0.37076	0.8202:0.1798:0.0:0.0	.	125	Q8NEK8	FA46D_HUMAN	F	125	ENSP00000443410:I125F;ENSP00000308575:I125F	ENSP00000308575:I125F	I	+	1	0	FAM46D	79585067	0.249000	0.23941	0.051000	0.19133	0.001000	0.01503	4.596000	0.61055	1.579000	0.49836	0.437000	0.28790	ATC		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057338.1		NM_152630	
FANCG	2189	broad.mit.edu;hgsc.bcm.edu	37	9	35075002	35075002	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:35075002G>A	ENST00000378643.3	-	12	2049	c.1558C>T	c.(1558-1560)Cgt>Tgt	p.R520C	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	520					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.R520C(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCAGTCCACGACTAATTAGG	0.557			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	1	Substitution - Missense(1)	kidney(1)											104.0	98.0	100.0					9																	35075002		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1558C>T	9.37:g.35075002G>A	ENSP00000367910:p.Arg520Cys			Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426950	0.83667	.	.	ENSG00000221829	ENST00000378643	T	0.74526	-0.85	5.7	4.75	0.60458	Tetratricopeptide-like helical (1);	.	.	.	.	D	0.83188	0.5200	M	0.63843	1.955	0.58432	D	0.999997	D	0.89917	1.0	D	0.83275	0.996	D	0.84237	0.0470	9	0.87932	D	0	-10.8209	12.5819	0.56394	0.0:0.0:0.8342:0.1658	.	520	O15287	FANCG_HUMAN	C	520	ENSP00000367910:R520C	ENSP00000367910:R520C	R	-	1	0	FANCG	35065002	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.270000	0.43355	2.688000	0.91661	0.655000	0.94253	CGT		0.557	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1		NM_004629	
FANCG	2189	broad.mit.edu;hgsc.bcm.edu	37	9	35075004	35075004	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:35075004C>G	ENST00000378643.3	-	12	2047	c.1556G>C	c.(1555-1557)aGt>aCt	p.S519T	VCP_ENST00000358901.6_5'Flank|FANCG_ENST00000476212.1_Intron	NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	519					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|mitochondrion organization (GO:0007005)|ovarian follicle development (GO:0001541)|response to radiation (GO:0009314)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	damaged DNA binding (GO:0003684)	p.S519T(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGTCCACGACTAATTAGGGC	0.557			"""Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		Fanconi anaemia G	9	9p13	2189	"""Fanconi anemia, complementation group G"""		L	1	Substitution - Missense(1)	kidney(1)											104.0	97.0	100.0					9																	35075004		2203	4300	6503	SO:0001583	missense	2189			AJ007669	CCDS6574.1	9p13	2014-09-17			ENSG00000221829	ENSG00000221829		"""Fanconi anemia, complementation groups"""	3588	protein-coding gene	gene with protein product	"""DNA repair protein XRCC9"", ""X-ray repair, complementing defective, in Chinese hamster, 9"", ""X-ray repair complementing defective repair in Chinese hamster cells 9"""	602956		XRCC9		9256465, 9382107	Standard	NM_004629		Approved	FAG	uc003zwb.1	O15287	OTTHUMG00000019850	ENST00000378643.3:c.1556G>C	9.37:g.35075004C>G	ENSP00000367910:p.Ser519Thr			Missense_Mutation	SNP	ENST00000378643.3	37	CCDS6574.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694422	0.88830	.	.	ENSG00000221829	ENST00000378643	T	0.55930	0.49	5.7	5.7	0.88788	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.63260	0.2496	M	0.61703	1.905	0.30341	N	0.785757	D	0.55172	0.97	P	0.51833	0.681	T	0.65755	-0.6091	9	0.62326	D	0.03	-3.3104	16.58	0.84712	0.0:1.0:0.0:0.0	.	519	O15287	FANCG_HUMAN	T	519	ENSP00000367910:S519T	ENSP00000367910:S519T	S	-	2	0	FANCG	35065004	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.616000	0.61197	2.688000	0.91661	0.655000	0.94253	AGT		0.557	FANCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052269.1		NM_004629	
FMOD	2331	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203316788	203316788	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:203316788G>A	ENST00000354955.4	-	2	1074	c.611C>T	c.(610-612)gCc>gTc	p.A204V	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	204					carbohydrate metabolic process (GO:0005975)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor complex assembly (GO:0007181)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)		p.A204V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GAGGTACAAGGCCGTGAGGTT	0.582																																																	1	Substitution - Missense(1)	kidney(1)											111.0	111.0	111.0					1																	203316788		2203	4300	6503	SO:0001583	missense	2331			U05291	CCDS30976.1	1q32	2008-02-05			ENSG00000122176	ENSG00000122176		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3774	protein-coding gene	gene with protein product	"""fibromodulin proteoglycan"""	600245				7851907	Standard	NM_002023		Approved	SLRR2E	uc001gzr.3	Q06828	OTTHUMG00000035910	ENST00000354955.4:c.611C>T	1.37:g.203316788G>A	ENSP00000347041:p.Ala204Val		Q15331|Q8IV47	Missense_Mutation	SNP	ENST00000354955.4	37	CCDS30976.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.067|9.067	0.996025|0.996025	0.19043|0.19043	.|.	.|.	ENSG00000122176|ENSG00000122176	ENST00000435105;ENST00000354955|ENST00000539467	T|.	0.54866|.	0.55|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.241534|.	0.41938|.	D|.	0.000788|.	T|T	0.30039|0.30039	0.0752|0.0752	N|N	0.02403|0.02403	-0.565|-0.565	0.36272|0.36272	D|D	0.855244|0.855244	P|.	0.49961|.	0.93|.	P|.	0.53102|.	0.718|.	T|T	0.33137|0.33137	-0.9880|-0.9880	10|6	0.10636|0.08179	T|T	0.68|0.78	-10.3664|-10.3664	17.2771|17.2771	0.87119|0.87119	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	204|.	Q06828|.	FMOD_HUMAN|.	V|S	191;204|183	ENSP00000347041:A204V|.	ENSP00000347041:A204V|ENSP00000438680:P183S	A|P	-|-	2|1	0|0	FMOD|FMOD	201583411|201583411	0.913000|0.913000	0.31002|0.31002	0.938000|0.938000	0.37757|0.37757	0.809000|0.809000	0.45718|0.45718	2.370000|2.370000	0.44240|0.44240	2.414000|2.414000	0.81942|0.81942	0.655000|0.655000	0.94253|0.94253	GCC|CCT		0.582	FMOD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087472.1		NM_002023	
FRY	10129	broad.mit.edu;ucsc.edu	37	13	32841377	32841377	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:32841377C>A	ENST00000380250.3	+	55	8513	c.8017C>A	c.(8017-8019)Cag>Aag	p.Q2673K	FRY_ENST00000542859.1_Missense_Mutation_p.Q43K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2673						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.Q2673K(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TGCCGCCTTTCAGCCCGCAGC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											100.0	107.0	105.0					13																	32841377		2049	4195	6244	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8017C>A	13.37:g.32841377C>A	ENSP00000369600:p.Gln2673Lys		Q9Y3N6	Missense_Mutation	SNP	ENST00000380250.3	37	CCDS41875.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.702073	0.88924	.	.	ENSG00000073910	ENST00000380250;ENST00000380235;ENST00000542859	T	0.24723	1.84	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	M	0.81942	2.565	0.58432	D	0.999999	D;D	0.71674	0.997;0.998	D;D	0.79784	0.977;0.993	T	0.52230	-0.8603	10	0.35671	T	0.21	.	19.4344	0.94785	0.0:1.0:0.0:0.0	.	454;2673	Q8NB82;Q5TBA9	.;FRY_HUMAN	K	2673;317;43	ENSP00000369600:Q2673K	ENSP00000369567:Q317K	Q	+	1	0	FRY	31739377	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	7.458000	0.80787	2.600000	0.87896	0.650000	0.86243	CAG		0.542	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044405.1		NM_023037	
GBA2	57704	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	35738346	35738346	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:35738346C>T	ENST00000378103.3	-	14	2603	c.2080G>A	c.(2080-2082)Gca>Aca	p.A694T	GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000378088.1_5'UTR|GBA2_ENST00000378094.4_Missense_Mutation_p.A694T|GBA2_ENST00000545786.1_Missense_Mutation_p.A700T	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	694					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)	p.A694T(1)		NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCACAGCTGCCAGCCACAGC	0.562																																																	1	Substitution - Missense(1)	kidney(1)											90.0	96.0	94.0					9																	35738346		2203	4300	6503	SO:0001583	missense	57704			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2080G>A	9.37:g.35738346C>T	ENSP00000367343:p.Ala694Thr		D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Missense_Mutation	SNP	ENST00000378103.3	37	CCDS6589.1	.	.	.	.	.	.	.	.	.	.	C	31	5.080410	0.94050	.	.	ENSG00000070610	ENST00000378103;ENST00000378094;ENST00000545786	.	.	.	5.7	5.7	0.88788	Six-hairpin glycosidase-like (1);Glucosylceramidase (1);	0.047547	0.85682	D	0.000000	D	0.83280	0.5220	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.985;0.999	D	0.84354	0.0534	9	0.72032	D	0.01	-12.8045	19.8389	0.96675	0.0:1.0:0.0:0.0	.	700;694;694	F5H7P6;Q9HCG7-2;Q9HCG7	.;.;GBA2_HUMAN	T	694;694;700	.	ENSP00000367334:A694T	A	-	1	0	GBA2	35728346	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	7.458000	0.80787	2.703000	0.92315	0.655000	0.94253	GCA		0.562	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1		NM_020944	
GOLGA2	2801	broad.mit.edu	37	9	131021536	131021536	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:131021536C>T	ENST00000421699.2	-	19	1938	c.1926G>A	c.(1924-1926)ctG>ctA	p.L642L	GOLGA2_ENST00000609374.1_Silent_p.L630L|AL590708.1_ENST00000408370.1_RNA	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	642					mitotic cell cycle (GO:0000278)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)		p.L630L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GCTGGGTCTGCAGCAGTAGCT	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											26.0	25.0	25.0					9																	131021536		2203	4300	6503	SO:0001819	synonymous_variant	2801			L06147	CCDS6896.2	9q34.13	2010-06-28	2010-02-12		ENSG00000167110	ENSG00000167110			4425	protein-coding gene	gene with protein product	"""Golgi matrix protein GM130"", ""SY11 protein"""	602580	"""golgi autoantigen, golgin subfamily a, 2"""			8315394	Standard	NM_004486		Approved	GM130, golgin-95	uc011maw.2	Q08379	OTTHUMG00000020732	ENST00000421699.2:c.1926G>A	9.37:g.131021536C>T			Q6GRM9|Q9BRB0|Q9NYF9	Silent	SNP	ENST00000421699.2	37	CCDS6896.2																																																																																				0.607	GOLGA2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054358.2		NM_004486	
GPR15	2838	broad.mit.edu;ucsc.edu	37	3	98251550	98251550	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:98251550C>A	ENST00000284311.3	+	1	808	c.673C>A	c.(673-675)Cat>Aat	p.H225N		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	225					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.H225N(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GCTGTGTGCCCATTACCAGCA	0.433																																																	1	Substitution - Missense(1)	kidney(1)											138.0	133.0	135.0					3																	98251550		2203	4300	6503	SO:0001583	missense	2838				CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.673C>A	3.37:g.98251550C>A	ENSP00000284311:p.His225Asn		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	C	13.47	2.247126	0.39697	.	.	ENSG00000154165	ENST00000284311	T	0.39997	1.05	4.92	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000062	T	0.43634	0.1256	L	0.50993	1.605	0.09310	N	0.999995	P	0.47841	0.901	P	0.51777	0.679	T	0.29518	-1.0009	10	0.44086	T	0.13	-4.0725	6.7741	0.23611	0.0:0.8174:0.0:0.1825	.	225	P49685	GPR15_HUMAN	N	225	ENSP00000284311:H225N	ENSP00000284311:H225N	H	+	1	0	GPR15	99734240	0.986000	0.35501	0.857000	0.33713	0.569000	0.35902	5.659000	0.68010	2.729000	0.93468	0.655000	0.94253	CAT		0.433	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			
SLC52A1	55065	hgsc.bcm.edu;ucsc.edu	37	17	4937468	4937468	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:4937468C>T	ENST00000424747.1	-	3	1028	c.316G>A	c.(316-318)Gca>Aca	p.A106T	SLC52A1_ENST00000512825.2_Missense_Mutation_p.A106T|SLC52A1_ENST00000254853.5_Missense_Mutation_p.A106T	NM_001104577.1	NP_001098047.1	Q9NWF4	S52A1_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	106					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.A106T(1)									AGCTGCCCTGCCACTGGGGCC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											50.0	58.0	55.0					17																	4937468		2203	4300	6503	SO:0001583	missense	0			AY070775	CCDS11066.1	17p13.3	2013-07-17	2013-07-17	2012-02-29	ENSG00000132517	ENSG00000132517		"""Solute carriers"""	30225	protein-coding gene	gene with protein product	"""riboflavin transporter 1"""	607883	"""G protein-coupled receptor 172B"""	GPR172B		12740431, 18632736	Standard	NM_001104577		Approved	FLJ10060, GPCR42, PAR2, hRFT1, RFVT1	uc002gao.4	Q9NWF4	OTTHUMG00000099448	ENST00000424747.1:c.316G>A	17.37:g.4937468C>T	ENSP00000399979:p.Ala106Thr		B5MEV1|B5MEV2|Q6P9E0|Q86UT0	Missense_Mutation	SNP	ENST00000424747.1	37	CCDS11066.1	.	.	.	.	.	.	.	.	.	.	C	12.31	1.900427	0.33535	.	.	ENSG00000132517	ENST00000254853;ENST00000512825;ENST00000424747	T;T;T	0.76186	-1.0;-1.0;-1.0	1.84	0.839	0.18907	.	0.127546	0.51477	D	0.000089	T	0.79275	0.4418	M	0.82056	2.57	0.44603	D	0.997576	D;D	0.71674	0.991;0.998	P;P	0.61201	0.885;0.87	T	0.75001	-0.3471	10	0.16896	T	0.51	.	6.3912	0.21587	0.0:0.8254:0.0:0.1746	.	106;106	F5H5Y1;Q9NWF4	.;RFT_HUMAN	T	106	ENSP00000254853:A106T;ENSP00000443026:A106T;ENSP00000399979:A106T	ENSP00000254853:A106T	A	-	1	0	GPR172B	4878192	0.990000	0.36364	0.647000	0.29507	0.209000	0.24338	1.169000	0.31871	0.343000	0.23821	-0.229000	0.12294	GCA		0.627	SLC52A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216913.1		NM_017986	
HECW1	23072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	43503283	43503283	+	Silent	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:43503283T>C	ENST00000395891.2	+	14	3281	c.2676T>C	c.(2674-2676)atT>atC	p.I892I	HECW1_ENST00000453890.1_Silent_p.I858I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	892					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.I871I(1)|p.I892I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCGAACCATTGCAACAGAGA	0.488																																																	2	Substitution - coding silent(2)	kidney(2)											69.0	75.0	73.0					7																	43503283		1905	4113	6018	SO:0001819	synonymous_variant	23072			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.2676T>C	7.37:g.43503283T>C			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	CCDS5469.2																																																																																				0.488	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052	
INHBC	3626	hgsc.bcm.edu	37	12	57843412	57843413	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:57843412_57843413insG	ENST00000309668.2	+	2	793_794	c.666_667insG	c.(667-669)gccfs	p.A223fs		NM_005538.2	NP_005529.1	P55103	INHBC_HUMAN	inhibin, beta C	223					growth (GO:0040007)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	transforming growth factor beta receptor binding (GO:0005160)			breast(2)|endometrium(1)|large_intestine(6)|liver(2)|lung(4)|prostate(1)	16						CTTTTGTGGCAGCCCGGGTGAG	0.594																																																	0																																										SO:0001589	frameshift_variant	3626				CCDS8938.1	12q13	2008-02-05				ENSG00000175189			6068	protein-coding gene	gene with protein product		601233				7826378	Standard	NM_005538		Approved		uc001snv.1	P55103	OTTHUMG00000169994	ENST00000309668.2:c.667dupG	12.37:g.57843413_57843413dupG	ENSP00000308716:p.Ala223fs		A1L3Y2	Frame_Shift_Ins	INS	ENST00000309668.2	37	CCDS8938.1																																																																																				0.594	INHBC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406770.1		NM_005538	
ITPR2	3709	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	26839514	26839514	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:26839514T>C	ENST00000381340.3	-	11	1464	c.1048A>G	c.(1048-1050)Atc>Gtc	p.I350V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	350	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)	p.I350V(1)	ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTATACATGATCTTCTCCCCT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											190.0	182.0	185.0					12																	26839514		1895	4116	6011	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.1048A>G	12.37:g.26839514T>C	ENSP00000370744:p.Ile350Val		O94773	Missense_Mutation	SNP	ENST00000381340.3	37	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338917	0.41398	.	.	ENSG00000123104	ENST00000381340	D	0.86497	-2.13	4.92	4.92	0.64577	MIR motif (2);MIR (2);	0.000000	0.85682	D	0.000000	D	0.90086	0.6903	M	0.73598	2.24	0.80722	D	1	P	0.47545	0.897	P	0.55615	0.78	D	0.87761	0.2598	10	0.09590	T	0.72	.	14.7409	0.69455	0.0:0.0:0.0:1.0	.	350	Q14571	ITPR2_HUMAN	V	350	ENSP00000370744:I350V	ENSP00000370744:I350V	I	-	1	0	ITPR2	26730781	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.795000	0.69074	2.058000	0.61347	0.528000	0.53228	ATC		0.433	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1		NM_002223	
KAT2B	8850	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	20153227	20153227	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:20153227A>G	ENST00000263754.4	+	6	1446	c.991A>G	c.(991-993)Aaa>Gaa	p.K331E		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	331					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)	p.K331E(1)		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						AAGACAGGAAAAAGATAAACT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											125.0	111.0	115.0					3																	20153227		2203	4300	6503	SO:0001583	missense	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.991A>G	3.37:g.20153227A>G	ENSP00000263754:p.Lys331Glu		Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	A	29.8	5.035944	0.93630	.	.	ENSG00000114166	ENST00000263754	T	0.24723	1.84	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.49218	0.1544	M	0.75777	2.31	0.80722	D	1	D	0.63880	0.993	P	0.62382	0.901	T	0.48479	-0.9032	10	0.46703	T	0.11	-22.624	15.9703	0.80008	1.0:0.0:0.0:0.0	.	331	Q92831	KAT2B_HUMAN	E	331	ENSP00000263754:K331E	ENSP00000263754:K331E	K	+	1	0	KAT2B	20128231	1.000000	0.71417	0.975000	0.42487	0.982000	0.71751	9.207000	0.95064	2.171000	0.68590	0.533000	0.62120	AAA		0.453	KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1		NM_003884	
KCTD14	65987	broad.mit.edu;ucsc.edu	37	11	77727894	77727894	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:77727894G>T	ENST00000353172.5	-	2	557	c.513C>A	c.(511-513)tgC>tgA	p.C171*	KCTD14_ENST00000533144.1_Nonsense_Mutation_p.C141*|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	171					protein homooligomerization (GO:0051260)			p.C171*(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			TTTCCACCAGGCACACAAGCA	0.527																																					NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)												1	Substitution - Nonsense(1)	kidney(1)											135.0	127.0	130.0					11																	77727894		2200	4292	6492	SO:0001587	stop_gained	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.513C>A	11.37:g.77727894G>T	ENSP00000316482:p.Cys171*		B2R9R8	Nonsense_Mutation	SNP	ENST00000353172.5	37	CCDS8255.2	.	.	.	.	.	.	.	.	.	.	G	18.17	3.563660	0.65651	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	.	.	.	4.52	-1.67	0.08238	.	0.051022	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7341	0.51755	0.7627:0.0:0.2373:0.0	.	.	.	.	X	171;141	.	ENSP00000316482:C171X	C	-	3	2	KCTD14	77405542	0.017000	0.18338	0.072000	0.20136	0.100000	0.18952	0.143000	0.16115	-0.302000	0.08869	0.561000	0.74099	TGC		0.527	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1		NM_023930	
NYAP2	57624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	226447525	226447526	+	Missense_Mutation	DNP	CC	CC	AG			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:226447525_226447526CC>AG	ENST00000272907.6	+	4	1805_1806	c.1392_1393CC>AG	c.(1390-1395)agCCtc>agAGtc	p.464_465SL>RV	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	464	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)			p.S464R(1)|p.S464>?(1)|p.L465V(1)									ATTCGGGCAGCCTCTCAAGGAG	0.634																																																	3	Substitution - Missense(2)|Complex(1)	kidney(3)																																								SO:0001583	missense	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	Exception_encountered	2.37:g.226447525_226447526delinsAG	ENSP00000272907:p.S464_L465delinsRV		A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1																																																																																				0.634	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1		NM_020864	
KIF21A	55605	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	39730918	39730918	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:39730918T>G	ENST00000361418.5	-	17	2413	c.2398A>C	c.(2398-2400)Aag>Cag	p.K800Q	KIF21A_ENST00000361961.3_Missense_Mutation_p.K787Q|KIF21A_ENST00000395670.3_Missense_Mutation_p.K800Q|KIF21A_ENST00000541463.2_Missense_Mutation_p.K787Q|KIF21A_ENST00000544797.2_Missense_Mutation_p.K787Q			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	800					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K787Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CGTTGATCCTTTTTCAACTGA	0.328																																																	1	Substitution - Missense(1)	kidney(1)											174.0	156.0	162.0					12																	39730918		2203	4299	6502	SO:0001583	missense	55605			AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.2398A>C	12.37:g.39730918T>G	ENSP00000354878:p.Lys800Gln		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	CCDS53776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.2|25.2	4.617089|4.617089	0.87359|0.87359	.|.	.|.	ENSG00000139116|ENSG00000139116	ENST00000552961|ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T|T;T;T;T;T	0.24538|0.23754	1.85|1.89;1.89;1.89;1.89;1.89	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.000000|0.000000	0.56097|0.56097	D|D	0.000030|0.000030	T|T	0.54615|0.54615	0.1869|0.1869	M|M	0.82193|0.82193	2.58|2.58	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D;D;D;D	.|0.89917	.|1.0;0.989;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.996;0.985;0.999;0.996;0.999	T|T	0.61763|0.61763	-0.6996|-0.6996	8|10	0.72032|0.87932	D|D	0.01|0	.|.	14.5444|14.5444	0.68017|0.68017	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|787;787;800;787;800	.|F5H219;F5H0C3;Q7Z4S6;Q7Z4S6-2;Q7Z4S6-3	.|.;.;KI21A_HUMAN;.;.	N|Q	147|787;800;800;787;800;787	ENSP00000447765:K147N|ENSP00000354851:K787Q;ENSP00000379029:K800Q;ENSP00000445606:K787Q;ENSP00000354878:K800Q;ENSP00000438075:K787Q	ENSP00000449698:K57N|ENSP00000344501:K800Q	K|K	-|-	3|1	2|0	KIF21A|KIF21A	38017185|38017185	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.292000|7.292000	0.78731|0.78731	2.033000|2.033000	0.60031|0.60031	0.528000|0.528000	0.53228|0.53228	AAA|AAG		0.328	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641	
KIF2B	84643	hgsc.bcm.edu;ucsc.edu	37	17	51902361	51902361	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:51902361delA	ENST00000268919.4	+	1	2123	c.1967delA	c.(1966-1968)caafs	p.Q656fs		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	656					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCGAGATCCAAAAGAAACTG	0.458																																																	0													88.0	86.0	87.0					17																	51902361		2203	4300	6503	SO:0001589	frameshift_variant	84643			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1967delA	17.37:g.51902361delA	ENSP00000268919:p.Gln656fs		Q96MA2|Q9BXG6	Frame_Shift_Del	DEL	ENST00000268919.4	37	CCDS32685.1																																																																																				0.458	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1		NM_032559	
KLF3	51274	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	38690220	38690220	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr4:38690220T>G	ENST00000261438.5	+	3	377	c.72T>G	c.(70-72)aaT>aaG	p.N24K	KLF3_ENST00000514033.1_Missense_Mutation_p.N24K	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	24	Pro-rich.|Repressor domain.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N24K(1)		endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCATCTAATTACATGGAAT	0.393																																																	1	Substitution - Missense(1)	kidney(1)											72.0	75.0	74.0					4																	38690220		2203	4300	6503	SO:0001583	missense	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.72T>G	4.37:g.38690220T>G	ENSP00000261438:p.Asn24Lys		Q6PIR1|Q86TN0|Q9P2X6	Missense_Mutation	SNP	ENST00000261438.5	37	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.281843	0.59758	.	.	ENSG00000109787	ENST00000261438;ENST00000514033	T;T	0.50001	3.12;0.76	6.07	4.9	0.64082	.	0.063242	0.64402	D	0.000004	T	0.28034	0.0691	N	0.14661	0.345	0.34084	D	0.65996	B	0.29037	0.231	B	0.19666	0.026	T	0.41928	-0.9481	10	0.66056	D	0.02	.	8.8824	0.35382	0.0:0.1384:0.0:0.8616	.	24	P57682	KLF3_HUMAN	K	24	ENSP00000261438:N24K;ENSP00000421252:N24K	ENSP00000261438:N24K	N	+	3	2	KLF3	38366615	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.954000	0.49113	2.326000	0.78906	0.533000	0.62120	AAT		0.393	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2			
LHFPL3	375612	broad.mit.edu	37	7	103969251	103969251	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:103969251C>T	ENST00000535008.1	+	1	148	c.24C>T	c.(22-24)gcC>gcT	p.A8A	LHFPL3_ENST00000543266.1_Silent_p.A8A|LHFPL3_ENST00000401970.2_5'UTR|LHFPL3_ENST00000424859.1_5'UTR			Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 3	8						integral component of membrane (GO:0016021)		p.A8A(1)		kidney(1)|large_intestine(2)|lung(6)	9						ccgccgctgccgccgccgccg	0.721																																																	1	Substitution - coding silent(1)	kidney(1)											11.0	14.0	13.0					7																	103969251		1949	4092	6041	SO:0001819	synonymous_variant	375612			AY260763		7q22.2	2006-06-13			ENSG00000187416	ENSG00000187416			6589	protein-coding gene	gene with protein product		609719	"""lipoma HMGIC fusion partner-like 4"""	LHFPL4		10329012	Standard	NM_199000		Approved		uc003vce.3	Q86UP9	OTTHUMG00000157273	ENST00000535008.1:c.24C>T	7.37:g.103969251C>T			A1L383|A4D0Q5	Silent	SNP	ENST00000535008.1	37																																																																																					0.721	LHFPL3-201	KNOWN	basic	protein_coding	protein_coding			NM_199000	
LIPF	8513	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	90438403	90438403	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr10:90438403G>A	ENST00000238983.4	+	10	1208	c.1162G>A	c.(1162-1164)Gac>Aac	p.D388N	LIPF_ENST00000355843.2_Missense_Mutation_p.D365N|LIPF_ENST00000608620.1_Missense_Mutation_p.D355N|LIPF_ENST00000394375.3_Missense_Mutation_p.D398N	NM_004190.3	NP_004181.1	P07098	LIPG_HUMAN	lipase, gastric	388					lipid catabolic process (GO:0016042)|malate metabolic process (GO:0006108)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|mitochondrion (GO:0005739)	lipid binding (GO:0008289)|malate dehydrogenase activity (GO:0016615)|triglyceride lipase activity (GO:0004806)	p.D388N(1)|p.D398N(1)		NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)	Orlistat(DB01083)	AGTTTACAATGACATTGTTTC	0.328																																																	2	Substitution - Missense(2)	kidney(2)											58.0	62.0	61.0					10																	90438403		2203	4300	6503	SO:0001583	missense	8513			X05997	CCDS7389.1, CCDS55718.1, CCDS55719.1, CCDS65896.1	10q23	2005-10-30			ENSG00000182333	ENSG00000182333	3.1.1.3		6622	protein-coding gene	gene with protein product		601980				3304425, 9186906	Standard	NM_004190		Approved	HGL, HLAL	uc010qmt.2	P07098	OTTHUMG00000018695	ENST00000238983.4:c.1162G>A	10.37:g.90438403G>A	ENSP00000238983:p.Asp388Asn		B7Z723|F5H1P4|Q2M1P6|Q5VXI7|Q5VXI8|Q658L8	Missense_Mutation	SNP	ENST00000238983.4	37	CCDS7389.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769341	0.49680	.	.	ENSG00000182333	ENST00000394375;ENST00000238983;ENST00000355843	T;T;T	0.71461	-0.57;-0.57;-0.57	5.25	4.32	0.51571	.	0.371038	0.23474	N	0.047794	T	0.66470	0.2792	L	0.59967	1.855	0.22142	N	0.99933	B;B;B;B	0.21071	0.005;0.041;0.01;0.051	B;B;B;B	0.28553	0.062;0.055;0.027;0.091	T	0.61802	-0.6988	10	0.59425	D	0.04	-4.2333	9.1224	0.36795	0.0807:0.1511:0.7682:0.0	.	355;398;365;388	Q5VXI8;F5H1P4;Q658L8;P07098	.;.;.;LIPG_HUMAN	N	398;388;355	ENSP00000377900:D398N;ENSP00000238983:D388N;ENSP00000348101:D355N	ENSP00000238983:D388N	D	+	1	0	LIPF	90428383	0.995000	0.38212	0.363000	0.25875	0.944000	0.59088	2.287000	0.43505	1.517000	0.48917	0.655000	0.94253	GAC		0.328	LIPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049256.1			
LRRC4	64101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	127670011	127670011	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:127670011T>C	ENST00000249363.3	-	2	940	c.683A>G	c.(682-684)aAc>aGc	p.N228S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	228					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.N228S(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		AGGGAAGTGGTTCCCTGACAT	0.547																																																	1	Substitution - Missense(1)	kidney(1)											35.0	34.0	34.0					7																	127670011		2203	4297	6500	SO:0001583	missense	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.683A>G	7.37:g.127670011T>C	ENSP00000249363:p.Asn228Ser		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.082163	0.55861	.	.	ENSG00000128594	ENST00000249363	T	0.72615	-0.67	4.7	4.7	0.59300	.	0.000000	0.64402	U	0.000001	D	0.86108	0.5854	M	0.91249	3.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.88529	0.3101	10	0.62326	D	0.03	.	12.1761	0.54186	0.0:0.0:0.0:1.0	.	228	Q9HBW1	LRRC4_HUMAN	S	228	ENSP00000249363:N228S	ENSP00000249363:N228S	N	-	2	0	LRRC4	127457247	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.868000	0.87116	1.951000	0.56629	0.533000	0.62120	AAC		0.547	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1		NM_022143	
MAB21L1	4081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	36049398	36049398	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:36049398T>A	ENST00000379919.4	-	1	1434	c.878A>T	c.(877-879)gAg>gTg	p.E293V	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	293					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.E293V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CAGGCAAGACTCGTCCCAGTC	0.542																																																	1	Substitution - Missense(1)	kidney(1)											103.0	88.0	93.0					13																	36049398		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.878A>T	13.37:g.36049398T>A	ENSP00000369251:p.Glu293Val		Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	T	16.53	3.149150	0.57151	.	.	ENSG00000180660	ENST00000379919	T	0.11063	2.81	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.26810	0.0656	M	0.77820	2.39	0.80722	D	1	P	0.41929	0.765	P	0.49597	0.616	T	0.00756	-1.1579	10	0.48119	T	0.1	-36.0866	16.0659	0.80870	0.0:0.0:0.0:1.0	.	293	Q13394	MB211_HUMAN	V	293	ENSP00000369251:E293V	ENSP00000369251:E293V	E	-	2	0	MAB21L1	34947398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.040000	0.89188	2.209000	0.71365	0.533000	0.62120	GAG		0.542	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3		NM_005584	
MED25	81857	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	50322487	50322487	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:50322487C>G	ENST00000312865.6	+	3	292	c.239C>G	c.(238-240)tCc>tGc	p.S80C	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	80	Interaction with the Mediator complex.				cell death (GO:0008219)|gene expression (GO:0010467)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of chromatin binding (GO:0035563)|positive regulation of mediator complex assembly (GO:2001178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|transcription factor binding (GO:0008134)	p.S80C(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		GCTCCCGAGTCCTACGTACAA	0.557																																					GBM(51;894 1657 37868)												2	Substitution - Missense(2)	kidney(2)											106.0	87.0	93.0					19																	50322487		2203	4300	6503	SO:0001583	missense	81857			AL136746	CCDS33075.1	19q13.3	2014-09-17	2007-07-30			ENSG00000104973			28845	protein-coding gene	gene with protein product		610197	"""mediator of RNA polymerase II transcription, subunit 25 homolog (S. cerevisiae)"""			9110174, 11230166	Standard	NM_030973		Approved	ARC92, ACID1, TCBAP0758, DKFZp434K0512	uc002ppw.2	Q71SY5		ENST00000312865.6:c.239C>G	19.37:g.50322487C>G	ENSP00000326767:p.Ser80Cys		A8K095|B9TX30|O95783|Q6P143|Q6QMH5|Q707U4|Q8TB55|Q9H0L5|Q9HB34	Missense_Mutation	SNP	ENST00000312865.6	37	CCDS33075.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674545	0.88445	.	.	ENSG00000104973	ENST00000355584;ENST00000377077;ENST00000312881;ENST00000312865;ENST00000456294;ENST00000542221;ENST00000544580	T	0.78003	-1.14	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.80934	0.4719	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.81701	-0.0813	10	0.45353	T	0.12	.	18.3137	0.90210	0.0:1.0:0.0:0.0	.	80	Q71SY5	MED25_HUMAN	C	80	ENSP00000326767:S80C	ENSP00000326767:S80C	S	+	2	0	MED25	55014299	1.000000	0.71417	1.000000	0.80357	0.647000	0.38526	6.905000	0.75714	2.689000	0.91719	0.655000	0.94253	TCC		0.557	MED25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465316.1		NM_030973	
MRPS17	51373	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	56022693	56022693	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:56022693C>T	ENST00000285298.4	+	3	344	c.215C>T	c.(214-216)cCa>cTa	p.P72L	MRPS17_ENST00000426595.1_Missense_Mutation_p.P167L	NM_015969.2	NP_057053.1	Q9Y2R5	RT17_HUMAN	mitochondrial ribosomal protein S17	72					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.P72L(1)		kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTACCTGTTCCACGAGCAAAG	0.448																																																	1	Substitution - Missense(1)	kidney(1)											187.0	190.0	189.0					7																	56022693		2203	4300	6503	SO:0001583	missense	51373			AB051352	CCDS5520.1	7p11-q11.21	2012-09-13			ENSG00000239789	ENSG00000239789		"""Mitochondrial ribosomal proteins / small subunits"""	14047	protein-coding gene	gene with protein product	"""28S ribosomal protein S17, mitochondrial"""	611980				11279123	Standard	NM_015969		Approved	HSPC011, RPMS17, MRP-S17	uc003trd.3	Q9Y2R5	OTTHUMG00000023153	ENST00000285298.4:c.215C>T	7.37:g.56022693C>T	ENSP00000285298:p.Pro72Leu		Q86X15	Missense_Mutation	SNP	ENST00000285298.4	37	CCDS5520.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.899604	0.72754	.	.	ENSG00000249773;ENSG00000239789;ENSG00000239789	ENST00000426595;ENST00000285298;ENST00000443449	T	0.00932	5.53	4.84	4.84	0.62591	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.103125	0.43919	D	0.000505	T	0.02688	0.0081	M	0.90309	3.105	0.26598	N	0.973073	B;P	0.37061	0.437;0.58	B;B	0.37601	0.171;0.254	T	0.09207	-1.0685	10	0.52906	T	0.07	.	12.0045	0.53251	0.0:0.7114:0.2886:0.0	.	72;84	Q9Y2R5;Q8IY71	RT17_HUMAN;.	L	167;72;72	ENSP00000390331:P167L	ENSP00000285298:P72L	P	+	2	0	MRPS17;RP11-15K19.2	55990187	0.082000	0.21442	0.753000	0.31225	0.984000	0.73092	3.059000	0.49947	2.518000	0.84900	0.655000	0.94253	CCA		0.448	MRPS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251527.2		NM_015969	
MYH7	4625	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	23891451	23891451	+	Silent	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr14:23891451C>A	ENST00000355349.3	-	25	3345	c.3183G>T	c.(3181-3183)ctG>ctT	p.L1061L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1061					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)	p.L1061L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTCCTGGGTCAGCTTCAGGT	0.592																																																	1	Substitution - coding silent(1)	kidney(1)											153.0	119.0	131.0					14																	23891451		2203	4300	6503	SO:0001819	synonymous_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3183G>T	14.37:g.23891451C>A			A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Silent	SNP	ENST00000355349.3	37	CCDS9601.1																																																																																				0.592	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3		NM_000257	
NCL	4691	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	232321358	232321358	+	Silent	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:232321358T>C	ENST00000322723.4	-	11	1929	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	SNORA75_ENST00000384158.1_RNA|SNORD20_ENST00000384550.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	563					angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)	p.S563S(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TGGCATTAGGTGATCCCCTGG	0.458																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	112.0	112.0					2																	232321358		2203	4300	6503	SO:0001819	synonymous_variant	4691				CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1689A>G	2.37:g.232321358T>C			Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	CCDS33397.1																																																																																				0.458	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1		NM_005381	
NHSL2	340527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	71359245	71359245	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:71359245A>C	ENST00000373677.1	+	2	2011	c.749A>C	c.(748-750)gAt>gCt	p.D250A	NHSL2_ENST00000535692.1_Missense_Mutation_p.D250A|NHSL2_ENST00000510661.1_Missense_Mutation_p.D385A|NHSL2_ENST00000540800.1_Missense_Mutation_p.D616A			Q5HYW2	NHSL2_HUMAN	NHS-like 2	250								p.D616A(1)|p.D247A(1)		NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					TCCCACCCAGATGCTCAGGGT	0.532																																																	2	Substitution - Missense(2)	kidney(2)											132.0	97.0	109.0					X																	71359245		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.749A>C	X.37:g.71359245A>C	ENSP00000362781:p.Asp250Ala		B2RN94	Missense_Mutation	SNP	ENST00000373677.1	37		.	.	.	.	.	.	.	.	.	.	A	10.12	1.262930	0.23051	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.53206	1.26;0.66;0.63;0.66	5.39	5.39	0.77823	.	0.197595	0.44483	D	0.000459	T	0.61198	0.2328	L	0.56769	1.78	0.48040	D	0.999572	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.66979	0.948;0.948;0.948	T	0.59473	-0.7448	10	0.33141	T	0.24	-9.8643	12.2398	0.54536	1.0:0.0:0.0:0.0	.	616;385;250	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	A	616;250;385;250	ENSP00000444617:D616A;ENSP00000362781:D250A;ENSP00000424079:D385A;ENSP00000444914:D250A	ENSP00000362781:D250A	D	+	2	0	NHSL2	71275970	1.000000	0.71417	0.991000	0.47740	0.965000	0.64279	3.563000	0.53784	1.795000	0.52594	0.486000	0.48141	GAT		0.532	NHSL2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057170.1		NM_001013627	
NKAP	79576	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	119077352	119077352	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chrX:119077352G>T	ENST00000371410.3	-	1	383	c.217C>A	c.(217-219)Cgc>Agc	p.R73S		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	73	Ser-rich.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.R73S(1)		breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GAGCGTGAGCGGTAGGACTGG	0.667																																																	1	Substitution - Missense(1)	kidney(1)											34.0	36.0	35.0					X																	119077352		2203	4300	6503	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.217C>A	X.37:g.119077352G>T	ENSP00000360464:p.Arg73Ser		Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	g	10.88	1.474652	0.26511	.	.	ENSG00000101882	ENST00000371410	T	0.17370	2.28	3.81	1.05	0.20165	.	0.335779	0.29139	N	0.013037	T	0.07188	0.0182	N	0.22421	0.69	0.41741	D	0.989614	P	0.43024	0.798	B	0.34590	0.186	T	0.42531	-0.9446	10	0.21014	T	0.42	-3.0177	4.1722	0.10334	0.2141:0.0:0.6026:0.1834	.	73	Q8N5F7	NKAP_HUMAN	S	73	ENSP00000360464:R73S	ENSP00000360464:R73S	R	-	1	0	NKAP	118961380	0.863000	0.29885	0.925000	0.36789	0.290000	0.27261	0.081000	0.14823	0.097000	0.17492	0.544000	0.68410	CGC		0.667	NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1		NM_024528	
OPTC	26254	broad.mit.edu;hgsc.bcm.edu	37	1	203468978	203468978	+	Splice_Site	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:203468978G>C	ENST00000367222.2	+	5	847	c.731G>C	c.(730-732)aGg>aCg	p.R244T		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	244					negative regulation of angiogenesis (GO:0016525)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)	p.R244T(1)		breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			GCAGCCTTCAGGGTGAGTCAA	0.587																																																	1	Substitution - Missense(1)	kidney(1)											81.0	83.0	83.0					1																	203468978		2203	4300	6503	SO:0001630	splice_region_variant	26254			AF161702	CCDS1439.1	1q31	2008-02-05			ENSG00000188770	ENSG00000188770			8158	protein-coding gene	gene with protein product	"""oculoglycan"""	605127				10636917	Standard	NM_014359		Approved		uc001gzu.1	Q9UBM4	OTTHUMG00000036100	ENST00000367222.2:c.732+1G>C	1.37:g.203468978G>C			Q5T2G4	Missense_Mutation	SNP	ENST00000367222.2	37	CCDS1439.1	.	.	.	.	.	.	.	.	.	.	g	12.85	2.062867	0.36373	.	.	ENSG00000188770	ENST00000367222	T	0.02369	4.32	4.57	-4.95	0.03048	.	1.446220	0.04361	N	0.357517	T	0.02156	0.0067	N	0.17800	0.525	0.09310	N	0.999997	B	0.18013	0.025	B	0.12837	0.008	T	0.46830	-0.9163	10	0.39692	T	0.17	-6.0E-4	6.3163	0.21192	0.5977:0.0:0.1529:0.2495	.	244	Q9UBM4	OPT_HUMAN	T	244	ENSP00000356191:R244T	ENSP00000356191:R244T	R	+	2	0	OPTC	201735601	0.408000	0.25360	0.003000	0.11579	0.117000	0.20001	0.303000	0.19210	-0.935000	0.03728	0.556000	0.70494	AGG		0.587	OPTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087964.1		NM_014359	Missense_Mutation
PKDCC	91461	broad.mit.edu	37	2	42275952	42275952	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:42275952C>T	ENST00000294964.5	+	1	793	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_138370.2	NP_612379.2			protein kinase domain containing, cytoplasmic									p.R62W(1)|p.R205W(1)		breast(2)|kidney(1)|lung(5)	8						GCTGCTGGAGCGGCTGCGGCA	0.667																																																	2	Substitution - Missense(2)	kidney(2)											23.0	17.0	19.0					2																	42275952		2185	4282	6467	SO:0001583	missense	91461				CCDS33186.2	2p21	2014-01-28	2012-12-07		ENSG00000162878	ENSG00000162878			25123	protein-coding gene	gene with protein product	"""vertebrate lonesome kinase"""	614150	"""protein kinase domain containing, cytoplasmic homolog (mouse)"""			19097194, 19465597	Standard	NM_138370		Approved	SgK493, Vlk	uc002rsg.3	Q504Y2	OTTHUMG00000152303	ENST00000294964.5:c.613C>T	2.37:g.42275952C>T	ENSP00000294964:p.Arg205Trp			Missense_Mutation	SNP	ENST00000294964.5	37	CCDS33186.2	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959346	0.74016	.	.	ENSG00000162878	ENST00000294964	.	.	.	3.8	1.68	0.24146	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.410146	0.23805	N	0.044390	T	0.78400	0.4277	M	0.90705	3.14	0.46609	D	0.999128	D	0.89917	1.0	D	0.73708	0.981	T	0.78388	-0.2223	9	0.87932	D	0	-21.9198	7.3488	0.26678	0.2806:0.5759:0.1435:0.0	.	205	Q504Y2	PKDCC_HUMAN	W	205	.	ENSP00000294964:R205W	R	+	1	2	PKDCC	42129456	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.194000	0.32174	0.771000	0.33359	0.448000	0.29417	CGG		0.667	PKDCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325745.3			
PLCL1	5334	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	198949407	198949407	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:198949407T>G	ENST00000428675.1	+	2	1564	c.1166T>G	c.(1165-1167)tTt>tGt	p.F389C	PLCL1_ENST00000437704.2_Missense_Mutation_p.F291C	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	389					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.F291C(1)|p.F389C(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TGTGACATTTTTGATCCTGAG	0.388																																																	2	Substitution - Missense(2)	kidney(2)											106.0	100.0	102.0					2																	198949407		2203	4300	6503	SO:0001583	missense	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1166T>G	2.37:g.198949407T>G	ENSP00000402861:p.Phe389Cys		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	ENST00000428675.1	37	CCDS2326.2	.	.	.	.	.	.	.	.	.	.	T	16.87	3.241318	0.58995	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.21543	2.0;2.0	5.94	5.94	0.96194	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.64402	D	0.000001	T	0.59715	0.2214	H	0.94183	3.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.995	T	0.72090	-0.4395	9	.	.	.	.	16.3979	0.83621	0.0:0.0:0.0:1.0	.	389;315	Q15111;B4DYZ4	PLCL1_HUMAN;.	C	389;291	ENSP00000402861:F389C;ENSP00000414138:F291C	.	F	+	2	0	PLCL1	198657652	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.029000	0.88807	2.279000	0.76181	0.459000	0.35465	TTT		0.388	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1		NM_006226	
PLD1	5337	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	171323102	171323102	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr3:171323102G>T	ENST00000351298.4	-	26	3113	c.2987C>A	c.(2986-2988)aCa>aAa	p.T996K	PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000356327.5_Missense_Mutation_p.T958K	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	996					chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.T996K(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCATAAATTGTAGCATTTCG	0.413																																					NSCLC(149;2174 3517 34058)												1	Substitution - Missense(1)	kidney(1)											163.0	146.0	152.0					3																	171323102		2203	4300	6503	SO:0001583	missense	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2987C>A	3.37:g.171323102G>T	ENSP00000342793:p.Thr996Lys			Missense_Mutation	SNP	ENST00000351298.4	37	CCDS3216.1	.	.	.	.	.	.	.	.	.	.	G	18.23	3.578605	0.65878	.	.	ENSG00000075651	ENST00000356327;ENST00000351298	T;T	0.05081	3.51;3.5	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	T	0.06188	0.0160	L	0.31294	0.92	0.80722	D	1	B;B	0.33288	0.228;0.406	B;B	0.32583	0.046;0.148	T	0.25152	-1.0140	10	0.06494	T	0.89	-20.767	19.7705	0.96361	0.0:0.0:1.0:0.0	.	981;996	Q59EA4;Q13393	.;PLD1_HUMAN	K	958;996	ENSP00000348681:T958K;ENSP00000342793:T996K	ENSP00000342793:T996K	T	-	2	0	PLD1	172805796	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.062000	0.89475	2.669000	0.90835	0.655000	0.94253	ACA		0.413	PLD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000346730.2		NM_002662	
PLEKHM1	9842	hgsc.bcm.edu;ucsc.edu	37	17	43517526	43517526	+	Intron	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:43517526T>C	ENST00000430334.3	-	10	3035				PLEKHM1_ENST00000421073.2_Intron|PLEKHM1_ENST00000580404.1_Intron	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1						intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					ATGACACTCTTACCTGTTGGA	0.473																																																	0													75.0	71.0	73.0					17																	43517526		2203	4300	6503	SO:0001627	intron_variant	9842			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.2901+2A>G	17.37:g.43517526T>C			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	RNA	SNP	ENST00000430334.3	37	CCDS32671.1																																																																																				0.473	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444659.1		NM_014798	
PPL	5493	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	4953994	4953994	+	Silent	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:4953994C>A	ENST00000345988.2	-	3	299	c.210G>T	c.(208-210)gtG>gtT	p.V70V	PPL_ENST00000590782.2_Silent_p.V70V	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	70					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.V70V(1)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCTGCAGGGTCACGTCCCGGT	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	46.0	50.0					16																	4953994		2197	4300	6497	SO:0001819	synonymous_variant	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.210G>T	16.37:g.4953994C>A			O60314|O60454|Q14C98	Silent	SNP	ENST00000345988.2	37	CCDS10526.1																																																																																				0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251715.1		NM_002705	
PRAME	23532	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	22	22890580	22890580	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr22:22890580A>G	ENST00000398741.1	-	6	1745	c.1439T>C	c.(1438-1440)gTc>gCc	p.V480A	PRAME_ENST00000402697.1_Missense_Mutation_p.V480A|PRAME_ENST00000543184.1_Missense_Mutation_p.V480A|PRAME_ENST00000398743.2_Missense_Mutation_p.V480A|PRAME_ENST00000424204.2_Missense_Mutation_p.V464A|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000405655.3_Missense_Mutation_p.V480A|PRAME_ENST00000539862.1_Missense_Mutation_p.V464A	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	480	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.V480A(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACTAAGCCAGACCATGCTGGG	0.582																																					Melanoma(73;1707 1838 15168 27201)												1	Substitution - Missense(1)	kidney(1)											111.0	104.0	107.0					22																	22890580		2203	4300	6503	SO:0001583	missense	23532			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1439T>C	22.37:g.22890580A>G	ENSP00000381726:p.Val480Ala		B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	A	7.765	0.706220	0.15239	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85;0.85	3.68	0.234	0.15390	.	0.420400	0.21226	N	0.078078	T	0.45135	0.1327	M	0.82823	2.61	0.09310	N	1	P	0.36789	0.57	B	0.38458	0.274	T	0.47058	-0.9146	10	0.87932	D	0	.	2.6963	0.05136	0.5991:0.0:0.2009:0.1999	.	480	P78395	PRAME_HUMAN	A	480;480;480;480;464;480;464	ENSP00000381728:V480A;ENSP00000445675:V480A;ENSP00000381726:V480A;ENSP00000384343:V480A;ENSP00000445097:V464A;ENSP00000385198:V480A;ENSP00000407342:V464A	ENSP00000381726:V480A	V	-	2	0	PRAME	21220580	0.986000	0.35501	0.025000	0.17156	0.017000	0.09413	3.524000	0.53495	-0.027000	0.13873	0.523000	0.50628	GTC		0.582	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1		NM_206953	
PRELP	5549	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203453269	203453269	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:203453269C>A	ENST00000343110.2	+	2	1084	c.957C>A	c.(955-957)aaC>aaA	p.N319K		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	319					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.N319K(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			TGTACCTCAACAACAATAGCA	0.567																																																	1	Substitution - Missense(1)	kidney(1)											26.0	30.0	29.0					1																	203453269		2183	4232	6415	SO:0001583	missense	5549			BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.957C>A	1.37:g.203453269C>A	ENSP00000343924:p.Asn319Lys		Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.480962	0.63849	.	.	ENSG00000188783	ENST00000343110	T	0.04502	3.61	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	N	0.14661	0.345	0.54753	D	0.999988	D	0.61080	0.989	D	0.67725	0.953	T	0.42103	-0.9471	10	0.40728	T	0.16	-7.2958	10.0921	0.42453	0.0:0.9068:0.0:0.0932	.	319	P51888	PRELP_HUMAN	K	319	ENSP00000343924:N319K	ENSP00000343924:N319K	N	+	3	2	PRELP	201719892	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.755000	0.38379	2.214000	0.71695	0.462000	0.41574	AAC		0.567	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1		NM_002725	
PRRC2B	84726	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	134351306	134351306	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr9:134351306G>C	ENST00000357304.4	+	15	3845	c.3790G>C	c.(3790-3792)Gac>Cac	p.D1264H	PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1264							poly(A) RNA binding (GO:0044822)	p.D1264H(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CAGACACCCTGACGCATTTGG	0.557											OREG0019561	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	kidney(2)											43.0	48.0	46.0					9																	134351306		2016	4172	6188	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3790G>C	9.37:g.134351306G>C	ENSP00000349856:p.Asp1264His	1610	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	ENST00000357304.4	37	CCDS48044.1	.	.	.	.	.	.	.	.	.	.	G	14.46	2.541332	0.45280	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.02015	4.5	5.81	5.81	0.92471	.	.	.	.	.	T	0.08313	0.0207	L	0.47716	1.5	0.80722	D	1	D;D	0.69078	0.997;0.995	P;P	0.60473	0.875;0.819	T	0.25710	-1.0124	8	.	.	.	.	19.051	0.93046	0.0:0.0:1.0:0.0	.	560;1264	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	H	1264;560	ENSP00000349856:D1264H	.	D	+	1	0	PRRC2B	133341127	1.000000	0.71417	0.083000	0.20561	0.001000	0.01503	6.976000	0.76135	2.745000	0.94114	0.655000	0.94253	GAC		0.557	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				
PYCARD	29108	hgsc.bcm.edu	37	16	31213523	31213523	+	Splice_Site	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:31213523G>T	ENST00000247470.9	-	2	577	c.276C>A	c.(274-276)ggC>ggA	p.G92G	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	92					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|macropinocytosis (GO:0044351)|myeloid dendritic cell activation (GO:0001773)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002588)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 secretion (GO:2001181)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phagocytosis (GO:0050766)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell migration (GO:2000406)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of protein stability (GO:0031647)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|IkappaB kinase complex (GO:0008385)|mitochondrion (GO:0005739)|NLRP1 inflammasome complex (GO:0072558)|NLRP3 inflammasome complex (GO:0072559)|nucleolus (GO:0005730)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|protein homodimerization activity (GO:0042803)|Pyrin domain binding (GO:0032090)			NS(1)|kidney(1)	2						CGGCTCCAGAGCCTGGAAGGA	0.697																																																	0													21.0	25.0	24.0					16																	31213523		2197	4299	6496	SO:0001630	splice_region_variant	29108			AB023416	CCDS10708.1, CCDS10709.1	16p11.2	2013-01-22			ENSG00000103490	ENSG00000103490			16608	protein-coding gene	gene with protein product		606838					Standard	NM_013258		Approved	TMS-1, CARD5, ASC	uc010cak.3	Q9ULZ3	OTTHUMG00000176753	ENST00000247470.9:c.275-1C>A	16.37:g.31213523G>T			Q96D12|Q9BSZ5|Q9HBD0|Q9NXJ8	Silent	SNP	ENST00000247470.9	37	CCDS10708.1																																																																																				0.697	PYCARD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255539.13		NM_013258	Silent
QRICH2	84074	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	74276934	74276934	+	Missense_Mutation	SNP	C	C	T	rs564431023		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:74276934C>T	ENST00000262765.5	-	9	4045	c.3866G>A	c.(3865-3867)cGg>cAg	p.R1289Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1289								p.R1289Q(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGTTTCTGCCGATGGTCCTC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											94.0	83.0	86.0					17																	74276934		2203	4300	6503	SO:0001583	missense	84074			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3866G>A	17.37:g.74276934C>T	ENSP00000262765:p.Arg1289Gln		A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146265	0.37923	.	.	ENSG00000129646	ENST00000262765;ENST00000447564;ENST00000301613	T;T	0.46451	3.03;0.87	4.63	1.56	0.23342	.	.	.	.	.	T	0.23492	0.0568	N	0.20986	0.625	0.18873	N	0.999986	P;P	0.36249	0.545;0.545	B;B	0.29267	0.1;0.057	T	0.08166	-1.0735	9	0.36615	T	0.2	-20.2312	7.4806	0.27402	0.0:0.5723:0.0:0.4277	.	1289;1289	B5MD94;Q9H0J4	.;QRIC2_HUMAN	Q	1289;297;1289	ENSP00000262765:R1289Q;ENSP00000394461:R297Q	ENSP00000262765:R1289Q	R	-	2	0	QRICH2	71788529	0.000000	0.05858	0.988000	0.46212	0.922000	0.55478	-0.396000	0.07278	0.412000	0.25729	-0.136000	0.14681	CGG		0.622	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1		NM_032134	
RABGEF1	27342	broad.mit.edu;hgsc.bcm.edu	37	7	66248812	66248812	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:66248812G>C	ENST00000284957.5	+	4	574	c.497G>C	c.(496-498)gGa>gCa	p.G166A	KCTD7_ENST00000510829.2_Missense_Mutation_p.G166A|KCTD7_ENST00000451741.2_Missense_Mutation_p.G166A|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000450873.2_Missense_Mutation_p.G166A|RABGEF1_ENST00000439720.2_Missense_Mutation_p.G179A|KCTD7_ENST00000380828.2_Missense_Mutation_p.G206A|RABGEF1_ENST00000437078.2_Missense_Mutation_p.G180A			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	344	Interaction with ubiquitinated proteins.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein targeting to membrane (GO:0006612)	early endosome (GO:0005769)	DNA binding (GO:0003677)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|zinc ion binding (GO:0008270)	p.G166A(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TTTTTGGAAGGAATGCATTAC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											40.0	37.0	38.0					7																	66248812		2203	4300	6503	SO:0001583	missense	27342			AJ250042	CCDS5535.1, CCDS69308.1, CCDS75610.1	7q11.21	2010-07-09			ENSG00000154710	ENSG00000154710			17676	protein-coding gene	gene with protein product		609700				12505986, 11098082	Standard	NM_014504		Approved	rabex-5, RABEX5	uc003tvh.3	Q9UJ41	OTTHUMG00000129547	ENST00000284957.5:c.497G>C	7.37:g.66248812G>C	ENSP00000284957:p.Gly166Ala		B4DZM7|Q3HKR2|Q3HKR3|Q53FG0	Missense_Mutation	SNP	ENST00000284957.5	37	CCDS5535.1	.	.	.	.	.	.	.	.	.	.	.	3.555	-0.090883	0.07053	.	.	ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000243335;ENSG00000154710;ENSG00000154710;ENSG00000154710;ENSG00000154710	ENST00000380827;ENST00000380828;ENST00000510829;ENST00000451741;ENST00000284957;ENST00000450873;ENST00000439720;ENST00000437078	T;T;T;T;T;T;T	0.30714	1.6;1.52;1.52;1.52;1.52;1.52;1.52	5.71	-0.947	0.10382	.	0.642779	0.17431	N	0.174480	T	0.12987	0.0315	N	0.03608	-0.345	0.21933	N	0.999468	B	0.02656	0.0	B	0.01281	0.0	T	0.22347	-1.0219	10	0.12430	T	0.62	-0.132	16.3611	0.83269	0.0:0.7167:0.2166:0.0667	.	180	B4DZM7	.	A	211;206;166;166;166;166;179;180	ENSP00000370208:G206A;ENSP00000421124:G166A;ENSP00000398177:G166A;ENSP00000284957:G166A;ENSP00000415815:G166A;ENSP00000403429:G179A;ENSP00000390480:G180A	ENSP00000370207:G211A	G	+	2	0	RABGEF1;KCTD7	65886247	0.892000	0.30473	0.955000	0.39395	0.993000	0.82548	0.669000	0.25142	-0.187000	0.10516	-0.314000	0.08810	GGA		0.373	RABGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251737.3		NM_014504	
RAD54L	8438	broad.mit.edu;hgsc.bcm.edu	37	1	46743873	46743873	+	Silent	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:46743873G>A	ENST00000371975.4	+	18	2837	c.2163G>A	c.(2161-2163)caG>caA	p.Q721Q	RAD54L_ENST00000442598.1_Silent_p.Q721Q|LRRC41_ENST00000472710.1_5'Flank	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	721					chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q721Q(1)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGTACTCCAGGCTGCCTGGG	0.617								Direct reversal of damage;Homologous recombination																																									1	Substitution - coding silent(1)	kidney(1)											39.0	36.0	37.0					1																	46743873		2203	4300	6503	SO:0001819	synonymous_variant	8438			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.2163G>A	1.37:g.46743873G>A			Q5TE31|Q6IUY3	Silent	SNP	ENST00000371975.4	37	CCDS532.1																																																																																				0.617	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021272.1		NM_003579	
RBM26	64062	broad.mit.edu	37	13	79928637	79928637	+	Silent	SNP	A	A	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:79928637A>C	ENST00000438737.2	-	13	2363	c.1923T>G	c.(1921-1923)ggT>ggG	p.G641G	RBM26_ENST00000267229.7_Silent_p.G638G|RBM26_ENST00000438724.1_Silent_p.G641G			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	641					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G638G(1)|p.G641G(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		AAGGTACTGGACCCAGCCGCT	0.468																																																	2	Substitution - coding silent(2)	kidney(2)											73.0	72.0	73.0					13																	79928637		2203	4300	6503	SO:0001819	synonymous_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1923T>G	13.37:g.79928637A>C			B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37																																																																																					0.468	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4		NM_022118	
RBM39	9584	broad.mit.edu;hgsc.bcm.edu	37	20	34292611	34292611	+	Silent	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr20:34292611A>G	ENST00000253363.6	-	16	1494	c.1471T>C	c.(1471-1473)Ttg>Ctg	p.L491L	RBM39_ENST00000361162.6_Silent_p.L485L|RBM39_ENST00000407261.4_Silent_p.L334L|RBM39_ENST00000528062.3_Silent_p.L469L			Q14498	RBM39_HUMAN	RNA binding motif protein 39	491	Interaction with NCOA6. {ECO:0000250}.|RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.L491L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCCATGCAATGCATTGACA	0.378																																																	1	Substitution - coding silent(1)	kidney(1)											122.0	121.0	121.0					20																	34292611		2203	4300	6503	SO:0001819	synonymous_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.1471T>C	20.37:g.34292611A>G			A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Silent	SNP	ENST00000253363.6	37	CCDS13266.1																																																																																				0.378	RBM39-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078931.2		NM_184237	
RECQL5	9400	broad.mit.edu	37	17	73626918	73626919	+	Splice_Site	INS	-	-	TG	rs377391469|rs142406301		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:73626918_73626919insTG	ENST00000317905.5	-	12	1745		c.e12-1		RECQL5_ENST00000423245.2_Splice_Site|RECQL5_ENST00000443199.2_Splice_Site|SMIM5_ENST00000375215.3_5'Flank	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5						chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.?(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CAGTTCTCATCTGTGGGGGGGG	0.644								Other identified genes with known or suspected DNA repair function																																									1	Unknown(1)	upper_aerodigestive_tract(1)																																								SO:0001630	splice_region_variant	9400			AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.1586-1->CA	17.37:g.73626921_73626922dupTG			Q9H0B1|Q9P1W7|Q9UNC8	Splice_Site	INS	ENST00000317905.5	37	CCDS42380.1																																																																																				0.644	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1		NM_004259	Intron
RFX7	64864	hgsc.bcm.edu;ucsc.edu	37	15	56393665	56393665	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr15:56393665delT	ENST00000559447.2	-	7	683	c.412delA	c.(412-414)agcfs	p.S138fs	RFX7_ENST00000317318.6_Frame_Shift_Del_p.S235fs|RFX7_ENST00000423270.1_Frame_Shift_Del_p.S235fs|RFX7_ENST00000422057.1_Frame_Shift_Del_p.S138fs			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	138					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						AATGGTTGGCTTAACACTTTC	0.463																																																	0													95.0	91.0	92.0					15																	56393665		1920	4118	6038	SO:0001589	frameshift_variant	64864					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.412delA	15.37:g.56393665delT	ENSP00000453281:p.Ser138fs		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Frame_Shift_Del	DEL	ENST00000559447.2	37																																																																																					0.463	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	protein_coding	OTTHUMT00000418841.3		NM_022841	
RIMS1	22999	broad.mit.edu	37	6	72960946	72960946	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr6:72960946T>A	ENST00000521978.1	+	15	2573	c.2573T>A	c.(2572-2574)tTa>tAa	p.L858*	RIMS1_ENST00000491071.2_Nonsense_Mutation_p.L858*|RIMS1_ENST00000264839.7_Nonsense_Mutation_p.L858*|RIMS1_ENST00000538414.1_5'Flank|RIMS1_ENST00000348717.5_Nonsense_Mutation_p.L858*|RIMS1_ENST00000425662.2_Nonsense_Mutation_p.L251*|RIMS1_ENST00000523963.1_Nonsense_Mutation_p.L332*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.L858*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.L858*|RIMS1_ENST00000517827.1_Nonsense_Mutation_p.L317*|RIMS1_ENST00000401910.3_Nonsense_Mutation_p.L332*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.L858*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.L858*	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	858					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.L858*(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACAGCGCTTTTAGATGATGAA	0.368																																																	1	Substitution - Nonsense(1)	kidney(1)											61.0	57.0	59.0					6																	72960946		1948	4145	6093	SO:0001587	stop_gained	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.2573T>A	6.37:g.72960946T>A	ENSP00000428417:p.Leu858*		A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Nonsense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	44|44	10.708428|10.708428	0.99454|0.99454	.|.	.|.	ENSG00000079841|ENSG00000079841	ENST00000517433|ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978;ENST00000401910;ENST00000523963;ENST00000425662;ENST00000453976;ENST00000517827;ENST00000370420	.|.	.|.	.|.	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.49305	.|D	.|0.000141	T|.	0.25494|.	0.0620|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.22347|.	-1.0219|.	4|.	.|0.02654	.|T	.|1	-8.6752|-8.6752	15.6673|15.6673	0.77238|0.77238	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	L|X	431|858;858;858;858;858;858;858;858;858;858;858;858;332;332;251;251;317;83	.|.	.|ENSP00000264839:L858X	F|L	+|+	3|2	2|0	RIMS1|RIMS1	73017667|73017667	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.838000|0.838000	0.47535|0.47535	8.005000|8.005000	0.88553|0.88553	2.093000|2.093000	0.63338|0.63338	0.477000|0.477000	0.44152|0.44152	TTT|TTA		0.368	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1			
RIPK4	54101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	43164104	43164104	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr21:43164104T>A	ENST00000352483.2	-	8	1341	c.1277A>T	c.(1276-1278)gAc>gTc	p.D426V	RIPK4_ENST00000332512.3_Missense_Mutation_p.D378V|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Missense_Mutation_p.D315V|RIPK4_ENST00000544709.1_Missense_Mutation_p.D315V			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	426		Cleavage.			morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D426V(1)|p.D378V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAAGGCGGAGTCCACCGAGGA	0.647																																																	2	Substitution - Missense(2)	kidney(2)											68.0	62.0	64.0					21																	43164104		2203	4300	6503	SO:0001583	missense	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1277A>T	21.37:g.43164104T>A	ENSP00000330161:p.Asp426Val		Q96KH0	Missense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	T	21.7	4.193145	0.78902	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057;ENST00000330470	T;T;T;T	0.78595	-0.98;-1.02;-1.19;-1.19	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000005	T	0.76807	0.4039	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82248	-0.0551	10	0.72032	D	0.01	-48.2349	14.1164	0.65156	0.0:0.0:0.0:1.0	.	378	P57078-2	.	V	378;426;315;315;117	ENSP00000332454:D378V;ENSP00000330161:D426V;ENSP00000441754:D315V;ENSP00000442901:D315V	ENSP00000330975:D117V	D	-	2	0	RIPK4	42037173	1.000000	0.71417	0.966000	0.40874	0.781000	0.44180	5.659000	0.68010	1.924000	0.55735	0.533000	0.62120	GAC		0.647	RIPK4-201	KNOWN	basic	protein_coding	protein_coding			NM_020639	
RP1L1	94137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	10465398	10465398	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:10465398C>G	ENST00000382483.3	-	4	6433	c.6210G>C	c.(6208-6210)gaG>gaC	p.E2070D		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2150	25 X 16 AA approximate tandem repeats of [ED]-[AT]-[PQ]-[ED]-[AVT]-E-[GKE]-[ED]- [AMT]-Q-[EPK]-[EAT]-[TSELP]-[EG]- [EGSQDI]-[AVIE].				cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E2070D(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCTGGACCTCCCCTTCAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											117.0	131.0	126.0					8																	10465398		2062	4184	6246	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.6210G>C	8.37:g.10465398C>G	ENSP00000371923:p.Glu2070Asp		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	-	0.679	-0.798824	0.02841	.	.	ENSG00000183638	ENST00000382483	T	0.04119	3.7	0.674	-1.35	0.09114	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.27286	0.174	B	0.34093	0.175	T	0.46665	-0.9175	9	0.13470	T	0.59	.	2.022	0.03511	0.2561:0.3151:0.0:0.4288	.	2070	A6NKC6	.	D	2070	ENSP00000371923:E2070D	ENSP00000371923:E2070D	E	-	3	2	RP1L1	10502808	0.000000	0.05858	0.002000	0.10522	0.004000	0.04260	-4.542000	0.00218	-1.261000	0.02462	-1.544000	0.00907	GAG		0.622	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			
RPA3	6119	broad.mit.edu;hgsc.bcm.edu	37	7	7680049	7680049	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr7:7680049T>C	ENST00000223129.4	-	5	1172	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	RPA3_ENST00000396682.2_Start_Codon_SNP_p.M1V|RPA3_ENST00000406109.1_Intron|RPA3_ENST00000401447.1_5'Flank	NM_002947.3	NP_002938.1	P35244	RFA3_HUMAN	replication protein A3, 14kDa	1					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of cell proliferation (GO:0042127)|regulation of mitotic cell cycle (GO:0007346)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|single-stranded DNA binding (GO:0003697)	p.M1V(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.202)		ATGTCCACCATGATTATGGTC	0.582								Direct reversal of damage;Nucleotide excision repair (NER)																													Colon(148;376 1816 25359 26011 31717)												1	Substitution - Missense(1)	kidney(1)											81.0	71.0	74.0					7																	7680049		2203	4300	6503	SO:0001582	initiator_codon_variant	6119				CCDS5356.1	7p21.3	2013-09-23	2002-08-29		ENSG00000106399	ENSG00000106399			10291	protein-coding gene	gene with protein product		179837	"""replication protein A3 (14kD)"""			8454588	Standard	NM_002947		Approved	REPA3	uc003sri.3	P35244	OTTHUMG00000023748	ENST00000223129.4:c.1A>G	7.37:g.7680049T>C	ENSP00000223129:p.Met1Val		Q549U6	Missense_Mutation	SNP	ENST00000223129.4	37	CCDS5356.1	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438624	0.25900	.	.	ENSG00000106399	ENST00000223129;ENST00000396682	.	.	.	5.08	2.69	0.31865	.	0.072669	0.85682	N	0.000000	T	0.46756	0.1409	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.42137	-0.9469	8	0.87932	D	0	-33.6716	8.8882	0.35416	0.0:0.157:0.0:0.843	.	1	P35244	RFA3_HUMAN	V	1	.	ENSP00000223129:M1V	M	-	1	0	RPA3	7646574	1.000000	0.71417	0.981000	0.43875	0.057000	0.15508	2.923000	0.48868	0.493000	0.27837	0.533000	0.62120	ATG		0.582	RPA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324778.2		NM_002947	Missense_Mutation
RPL7	6129	broad.mit.edu;hgsc.bcm.edu	37	8	74204500	74204500	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:74204500T>A	ENST00000352983.2	-	3	549	c.264A>T	c.(262-264)aaA>aaT	p.K88N	RPL7_ENST00000396467.1_Missense_Mutation_p.K48N|RPL7_ENST00000487500.1_5'Flank|RPL7_ENST00000396466.1_Missense_Mutation_p.K48N|RDH10_ENST00000240285.5_5'Flank|RPL7_ENST00000396465.1_Missense_Mutation_p.K48N			P18124	RL7_HUMAN	ribosomal protein L7	88					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.K88N(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAAACGCCAATTTGGGTTCTG	0.418																																																	1	Substitution - Missense(1)	kidney(1)											86.0	93.0	91.0					8																	74204500		2203	4300	6503	SO:0001583	missense	6129			L16557	CCDS6212.1	8q13.3	2011-04-06			ENSG00000147604	ENSG00000147604		"""L ribosomal proteins"""	10363	protein-coding gene	gene with protein product		604166				8360149, 8441630	Standard	XM_006716463		Approved	humL7-1, L7	uc003xzg.3	P18124	OTTHUMG00000134312	ENST00000352983.2:c.264A>T	8.37:g.74204500T>A	ENSP00000339795:p.Lys88Asn		A8K504|Q15289|Q3KQU0|Q5I0X1|Q6IBM9	Missense_Mutation	SNP	ENST00000352983.2	37	CCDS6212.1	.	.	.	.	.	.	.	.	.	.	T	15.71	2.913585	0.52439	.	.	ENSG00000147604	ENST00000396467;ENST00000352983;ENST00000396466;ENST00000396465;ENST00000435330;ENST00000431653	.	.	.	4.5	-4.24	0.03777	.	0.000000	0.85682	U	0.000000	T	0.56934	0.2019	M	0.71206	2.165	0.80722	D	1	B	0.27679	0.185	B	0.25506	0.061	T	0.53816	-0.8385	9	0.66056	D	0.02	.	15.4652	0.75394	0.0:0.7059:0.0:0.2941	.	88	P18124	RL7_HUMAN	N	48;88;48;48;48;48	.	ENSP00000339795:K88N	K	-	3	2	RPL7	74367054	0.001000	0.12720	0.770000	0.31555	0.987000	0.75469	-1.570000	0.02140	-0.708000	0.05015	0.477000	0.44152	AAA		0.418	RPL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259287.1		NM_000971	
SH3BGR	6450	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	40834425	40834425	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr21:40834425A>G	ENST00000333634.4	+	2	437	c.359A>G	c.(358-360)aAa>aGa	p.K120R	SH3BGR_ENST00000380634.1_Missense_Mutation_p.K9R|SH3BGR_ENST00000458295.1_Missense_Mutation_p.K9R|SH3BGR_ENST00000380631.1_Missense_Mutation_p.K9R|SH3BGR_ENST00000380637.3_Missense_Mutation_p.K9R	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamate-rich protein	120					positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)	cytosol (GO:0005829)	SH3/SH2 adaptor activity (GO:0005070)	p.K120R(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CCTGGAGAGAAAAAACCTCAA	0.423																																																	1	Substitution - Missense(1)	kidney(1)											97.0	107.0	104.0					21																	40834425		2203	4300	6503	SO:0001583	missense	6450				CCDS13666.1, CCDS33560.1	21q22.3	2014-02-19	2014-02-19		ENSG00000185437	ENSG00000185437			10822	protein-coding gene	gene with protein product	"""21-glutamic acid-rich protein"""	602230	"""SH3 domain binding glutamic acid-rich protein"""			9050928	Standard	NM_007341		Approved	21-GARP	uc002yya.3	P55822	OTTHUMG00000074113	ENST00000333634.4:c.359A>G	21.37:g.40834425A>G	ENSP00000332513:p.Lys120Arg		A6ND59|D3DSI2|Q9BRB8	Missense_Mutation	SNP	ENST00000333634.4	37	CCDS13666.1	.	.	.	.	.	.	.	.	.	.	A	14.62	2.590120	0.46214	.	.	ENSG00000185437	ENST00000380637;ENST00000380634;ENST00000458295;ENST00000440288;ENST00000380631;ENST00000333634	T;T;T;T;T	0.50277	0.75;0.75;0.79;0.75;1.76	4.98	4.98	0.66077	Thioredoxin-like fold (2);	0.042650	0.85682	D	0.000000	T	0.43986	0.1272	L	0.31294	0.92	0.39367	D	0.96602	B	0.22604	0.072	B	0.36030	0.216	T	0.45056	-0.9287	10	0.45353	T	0.12	.	15.0028	0.71486	1.0:0.0:0.0:0.0	.	120	P55822	SH3BG_HUMAN	R	9;9;9;9;9;120	ENSP00000370011:K9R;ENSP00000370008:K9R;ENSP00000401572:K9R;ENSP00000370005:K9R;ENSP00000332513:K120R	ENSP00000332513:K120R	K	+	2	0	SH3BGR	39756295	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	3.679000	0.54634	2.008000	0.58898	0.533000	0.62120	AAA		0.423	SH3BGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157377.6		NM_007341	
SPSB3	90864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1827748	1827748	+	Splice_Site	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:1827748C>G	ENST00000566339.1	-	6	1051	c.721G>C	c.(721-723)Ggt>Cgt	p.G241R	SPSB3_ENST00000301717.4_Splice_Site_p.G241R	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	241	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.G241R(2)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						ACGGCCTCACCTATACACTTC	0.602																																																	2	Substitution - Missense(2)	kidney(2)											78.0	73.0	75.0					16																	1827748		2198	4299	6497	SO:0001630	splice_region_variant	90864				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.721+1G>C	16.37:g.1827748C>G			D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574505	0.65878	.	.	ENSG00000162032	ENST00000301717;ENST00000360717	T	0.66815	-0.23	3.79	3.79	0.43588	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.000000	0.85682	D	0.000000	D	0.85405	0.5689	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89585	0.3823	9	.	.	.	-23.6723	14.23	0.65885	0.0:1.0:0.0:0.0	.	241	Q6PJ21	SPSB3_HUMAN	R	241;45	ENSP00000301717:G241R	.	G	-	1	0	SPSB3	1767749	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	7.296000	0.78790	1.664000	0.50801	0.561000	0.74099	GGT		0.602	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1		NM_080861	Missense_Mutation
STAT2	6773	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	56750313	56750313	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr12:56750313G>A	ENST00000314128.4	-	2	66	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	STAT2_ENST00000418572.2_Nonsense_Mutation_p.Q15*|STAT2_ENST00000557235.1_Nonsense_Mutation_p.Q15*			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	15					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.Q15*(1)		NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						AGCTGATCCTGAAAGGGGCTG	0.517																																																	1	Substitution - Nonsense(1)	kidney(1)											108.0	96.0	100.0					12																	56750313		2203	4300	6503	SO:0001587	stop_gained	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.43C>T	12.37:g.56750313G>A	ENSP00000315768:p.Gln15*		B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Nonsense_Mutation	SNP	ENST00000314128.4	37	CCDS8917.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019142	0.75275	.	.	ENSG00000170581	ENST00000314128;ENST00000557235;ENST00000553337;ENST00000418572	.	.	.	4.97	4.05	0.47172	.	0.592613	0.17934	N	0.157066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-5.1058	12.0866	0.53700	0.0:0.0:0.8277:0.1723	.	.	.	.	X	15	.	ENSP00000315768:Q15X	Q	-	1	0	STAT2	55036580	1.000000	0.71417	0.980000	0.43619	0.867000	0.49689	4.078000	0.57606	1.414000	0.47017	0.655000	0.94253	CAG		0.517	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410277.1		NM_005419	
TIA1	7072	broad.mit.edu	37	2	70475612	70475612	+	De_novo_Start_OutOfFrame	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:70475612C>T	ENST00000433529.2	-	0	161				TIA1_ENST00000415783.2_De_novo_Start_OutOfFrame|TIA1_ENST00000416149.2_5'Flank|TIA1_ENST00000282574.4_De_novo_Start_OutOfFrame|TIA1_ENST00000445587.1_De_novo_Start_OutOfFrame|C2orf42_ENST00000470096.1_5'UTR	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CTGCCCTTCACTACCTCCCAA	0.597																																																	0													27.0	26.0	26.0					2																	70475612		2203	4300	6503			7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.-50G>A	2.37:g.70475612C>T			Q53SS9	Translation_Start_Site	SNP	ENST00000433529.2	37	CCDS1901.1	.	.	.	.	.	.	.	.	.	.	C	16.06	3.014517	0.54468	.	.	ENSG00000116001	ENST00000477807	.	.	.	5.12	4.25	0.50352	.	.	.	.	.	T	0.51363	0.1670	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40515	-0.9559	5	0.17832	T	0.49	.	9.4496	0.38719	0.0:0.9049:0.0:0.0951	.	.	.	.	N	22	.	ENSP00000445092:S22N	S	-	2	0	TIA1	70329116	1.000000	0.71417	0.998000	0.56505	0.856000	0.48823	1.231000	0.32624	1.385000	0.46445	0.655000	0.94253	AGT		0.597	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2		NM_022037	
TMEM143	55260	broad.mit.edu	37	19	48845836	48845836	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:48845836G>T	ENST00000293261.3	-	6	1242	c.926C>A	c.(925-927)tCc>tAc	p.S309Y	TMEM143_ENST00000436660.2_Missense_Mutation_p.S244Y|TMEM143_ENST00000435956.3_Missense_Mutation_p.S274Y|TMEM143_ENST00000541566.1_Missense_Mutation_p.S199Y|TMEM143_ENST00000377431.2_Missense_Mutation_p.S209Y	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	309					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S309Y(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CAGCAGCAGGGAGGTGGCCAC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											44.0	42.0	43.0					19																	48845836		2203	4300	6503	SO:0001583	missense	55260			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.926C>A	19.37:g.48845836G>T	ENSP00000293261:p.Ser309Tyr		A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	ENST00000293261.3	37	CCDS12716.1	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039645	0.55003	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.50813	0.73;0.76;0.76	4.45	4.45	0.53987	.	0.000000	0.56097	D	0.000025	T	0.61476	0.2350	L	0.54323	1.7	0.32568	N	0.53024	D;D;D;D	0.76494	0.999;0.998;0.989;0.998	D;D;D;D	0.71870	0.975;0.929;0.913;0.961	T	0.65113	-0.6247	10	0.22706	T	0.39	-14.3841	16.2957	0.82768	0.0:0.0:1.0:0.0	.	244;209;274;309	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	Y	309;209;274;244;199	ENSP00000293261:S309Y;ENSP00000397038:S274Y;ENSP00000444275:S199Y	ENSP00000293261:S309Y	S	-	2	0	TMEM143	53537648	1.000000	0.71417	0.984000	0.44739	0.933000	0.57130	3.125000	0.50469	2.197000	0.70478	0.456000	0.33151	TCC		0.667	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465622.1		NM_018273	
TMEM208	29100	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67262757	67262757	+	Silent	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:67262757T>A	ENST00000304800.9	+	5	463	c.357T>A	c.(355-357)tcT>tcA	p.S119S	LRRC29_ENST00000341546.3_5'Flank|LRRC29_ENST00000393992.1_5'Flank|AC040160.1_ENST00000454102.2_5'Flank|TMEM208_ENST00000563953.1_Silent_p.S49S|LRRC29_ENST00000409509.1_5'Flank|TMEM208_ENST00000565201.1_Silent_p.S119S|LRRC29_ENST00000462169.1_5'Flank|TMEM208_ENST00000563426.1_Intron	NM_014187.3	NP_054906.2	Q9BTX3	TM208_HUMAN	transmembrane protein 208	119					autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.S119S(1)		breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCTGCTTCTCTCTCTATGTCT	0.522																																																	1	Substitution - coding silent(1)	kidney(1)											111.0	116.0	115.0					16																	67262757		2022	4180	6202	SO:0001819	synonymous_variant	29100				CCDS45511.1	16q22.1	2008-05-02			ENSG00000168701	ENSG00000168701			25015	protein-coding gene	gene with protein product						11042152	Standard	NM_014187		Approved	HSPC171	uc002esi.2	Q9BTX3		ENST00000304800.9:c.357T>A	16.37:g.67262757T>A			Q05CT0|Q96D25|Q9NZZ7	Silent	SNP	ENST00000304800.9	37	CCDS45511.1																																																																																				0.522	TMEM208-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421976.2		NM_014187	
TMEM80	283232	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	703112	703112	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr11:703112G>C	ENST00000608174.1	+	5	606	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L	TMEM80_ENST00000397510.3_Missense_Mutation_p.V205L|TMEM80_ENST00000397512.3_Missense_Mutation_p.V149L|TMEM80_ENST00000528024.1_3'UTR	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	157						integral component of membrane (GO:0016021)		p.V157L(1)|p.V112L(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGGAGGCCGTCCTGCAGGT	0.692																																																	2	Substitution - Missense(2)	kidney(2)											18.0	19.0	19.0					11																	703112		2197	4282	6479	SO:0001583	missense	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.469G>C	11.37:g.703112G>C	ENSP00000476563:p.Val157Leu		A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	ENST00000608174.1	37	CCDS41587.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.707504	0.00712	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;T	0.88509	-2.39;-1.41	3.84	-5.18	0.02840	.	2.026290	0.03109	N	0.162273	T	0.81327	0.4799	L	0.33189	0.99	0.09310	N	1	B;B;B	0.30114	0.269;0.239;0.154	B;B;B	0.24006	0.05;0.034;0.015	T	0.67542	-0.5644	10	0.11182	T	0.66	-14.4495	14.2177	0.65805	0.828:0.0:0.172:0.0	.	132;149;157	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	L	157;149;132	ENSP00000380646:V157L;ENSP00000380648:V149L	ENSP00000380646:V157L	V	+	1	0	TMEM80	693112	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-2.598000	0.00894	-1.171000	0.02765	-1.982000	0.00454	GTC		0.692	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257104.2		NM_174940	
TMUB2	79089	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	42266747	42266747	+	Silent	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:42266747G>A	ENST00000587989.1	+	3	546	c.393G>A	c.(391-393)gaG>gaA	p.E131E	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000591166.1_RNA|TMUB2_ENST00000357984.3_Silent_p.E111E|TMUB2_ENST00000590235.1_Intron|ASB16-AS1_ENST00000592897.1_RNA|TMUB2_ENST00000587172.1_Intron|TMUB2_ENST00000589856.1_Silent_p.E111E|ASB16-AS1_ENST00000585457.1_RNA|TMUB2_ENST00000446571.3_Intron|TMUB2_ENST00000319511.6_Silent_p.E111E|TMUB2_ENST00000592825.1_Intron|TMUB2_ENST00000589785.1_Silent_p.E111E|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000538716.2_Silent_p.E131E			Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	131						integral component of membrane (GO:0016021)		p.E111E(1)|p.E131E(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GTGGTGTTGAGCCCAGCCTTG	0.597																																																	2	Substitution - coding silent(2)	kidney(2)											54.0	58.0	56.0					17																	42266747		2203	4300	6503	SO:0001819	synonymous_variant	79089				CCDS11479.1, CCDS54134.1	17q21	2006-06-27				ENSG00000168591			28459	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_177441		Approved	MGC3123	uc002ifo.3	Q71RG4		ENST00000587989.1:c.393G>A	17.37:g.42266747G>A			B3KU81|Q8NDI2|Q9BPZ5|Q9HAG3	Silent	SNP	ENST00000587989.1	37	CCDS54134.1																																																																																				0.597	TMUB2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457711.1		NM_177441	
TNR	7143	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	175360502	175360502	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:175360502C>G	ENST00000367674.2	-	7	2137	c.1429G>C	c.(1429-1431)Ggg>Cgg	p.G477R	TNR_ENST00000263525.2_Missense_Mutation_p.G477R			Q92752	TENR_HUMAN	tenascin R	477	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.G477R(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TATTCCTCCCCAGGCTTTAGT	0.562																																																	1	Substitution - Missense(1)	kidney(1)											68.0	67.0	67.0					1																	175360502		2203	4300	6503	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1429G>C	1.37:g.175360502C>G	ENSP00000356646:p.Gly477Arg		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.507190	0.85282	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.62639	0.01;0.01	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82618	0.5076	M	0.87547	2.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85757	0.1347	10	0.87932	D	0	.	18.6187	0.91313	0.0:1.0:0.0:0.0	.	477	Q92752	TENR_HUMAN	R	477	ENSP00000356646:G477R;ENSP00000263525:G477R	ENSP00000263525:G477R	G	-	1	0	TNR	173627125	1.000000	0.71417	1.000000	0.80357	0.604000	0.37047	7.376000	0.79658	2.486000	0.83907	0.655000	0.94253	GGG		0.562	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4		NM_003285	
TRAPPC9	83696	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	141310714	141310714	+	Splice_Site	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr8:141310714C>T	ENST00000438773.2	-	11	1756		c.e11-1		TRAPPC9_ENST00000389327.3_Splice_Site|TRAPPC9_ENST00000389328.4_Splice_Site	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9						cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.?(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTCACATGCCTGTTGTTTCA	0.398																																																	1	Unknown(1)	kidney(1)											155.0	149.0	151.0					8																	141310714		2203	4300	6503	SO:0001630	splice_region_variant	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1623-1G>A	8.37:g.141310714C>T			Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Splice_Site	SNP	ENST00000438773.2	37	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555955	0.86231	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000520857;ENST00000438773	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRAPPC9	141379896	1.000000	0.71417	0.958000	0.39756	0.979000	0.70002	6.779000	0.75057	2.801000	0.96364	0.650000	0.86243	.		0.398	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1		NM_031466	Intron
TTN	7273	broad.mit.edu	37	2	179406098	179406098	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:179406098T>A	ENST00000591111.1	-	300	93007	c.92783A>T	c.(92782-92784)gAa>gTa	p.E30928V	TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E23696V|TTN_ENST00000342992.6_Missense_Mutation_p.E30001V|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E23504V|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E23629V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E32569V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30928	Fibronectin type-III 125. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E30001V(1)|p.E23629V(1)|p.E23696V(1)|p.E29999V(1)|p.E23504V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTCATATTCTAAGCCTTC	0.488																																																	5	Substitution - Missense(5)	kidney(5)											94.0	91.0	92.0					2																	179406098		1955	4146	6101	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.92783A>T	2.37:g.179406098T>A	ENSP00000465570:p.Glu30928Val		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	27.1	4.800447	0.90538	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	5.72	5.72	0.89469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72550	0.3474	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.75224	-0.3393	9	0.87932	D	0	.	15.9957	0.80237	0.0:0.0:0.0:1.0	.	23504;23629;23696;30928	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	30001;23504;23696;23629;23501	ENSP00000343764:E30001V;ENSP00000434586:E23504V;ENSP00000340554:E23696V;ENSP00000352154:E23629V	ENSP00000340554:E23696V	E	-	2	0	TTN	179114344	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.174000	0.68829	0.459000	0.35465	GAA		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179410271	179410271	+	Frame_Shift_Del	DEL	G	G	-	rs72648261		TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr2:179410271delG	ENST00000591111.1	-	294	90867	c.90643delC	c.(90643-90645)cgtfs	p.R30215fs	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.R22983fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.R29288fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.R22791fs|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.R22916fs|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Frame_Shift_Del_p.R31856fs|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30215	Fibronectin type-III 120. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTTGACACGTGTCCAGCGC	0.488																																																	0													360.0	351.0	354.0					2																	179410271		2020	4189	6209	SO:0001589	frameshift_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.90643delC	2.37:g.179410271delG	ENSP00000465570:p.Arg30215fs		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UNK	85451	broad.mit.edu	37	17	73814863	73814863	+	Silent	SNP	C	C	T			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:73814863C>T	ENST00000589666.1	+	11	1622	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Silent_p.F580F	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	504							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.F580F(1)|p.F504F(1)		cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCTGCCCTTCTACCCCACCA	0.587																																																	2	Substitution - coding silent(2)	kidney(2)											56.0	58.0	57.0					17																	73814863		2003	4172	6175	SO:0001819	synonymous_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1512C>T	17.37:g.73814863C>T				Silent	SNP	ENST00000589666.1	37	CCDS45778.2																																																																																				0.587	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1		NM_001080419	
UNK	85451	hgsc.bcm.edu;ucsc.edu	37	17	73816152	73816152	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr17:73816152delC	ENST00000589666.1	+	13	1910	c.1800delC	c.(1798-1800)aacfs	p.N600fs	RP11-552F3.4_ENST00000586808.1_RNA|UNK_ENST00000293218.3_Frame_Shift_Del_p.N676fs	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	600							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGTCGGAAAACACATTTTTGG	0.587																																																	0													77.0	81.0	80.0					17																	73816152		2040	4207	6247	SO:0001589	frameshift_variant	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.1800delC	17.37:g.73816152delC	ENSP00000464893:p.Asn600fs			Frame_Shift_Del	DEL	ENST00000589666.1	37	CCDS45778.2																																																																																				0.587	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448835.1		NM_001080419	
SMG1P7	100506060	broad.mit.edu	37	16	70268081	70268081	+	RNA	SNP	G	G	A			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr16:70268081G>A	ENST00000459379.1	-	0	0																											TCTTACTGTTGGCTAAAAGGC	0.373																																																	0																																												0																															16.37:g.70268081G>A				RNA	SNP	ENST00000459379.1	37																																																																																					0.373	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
VHL	7428	hgsc.bcm.edu	37	3	10183871	10183871	+	Splice_Site	SNP	G	G	C			TCGA-BP-4782-01A-02D-2099-10	TCGA-BP-4782-11A-01W-1476-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Illumina Miseq	.		PacBio RS	ec9b5e3e-36a9-4533-a621-1b4864773544	ecaca359-731a-46a3-99dd-6e34d91ccb13	g.chr3:10183871G>C	ENST00000256474.2	+	1	1180	c.340G>C	c.(340-342)Ggt>Cgt	p.G114R	VHL_ENST00000345392.2_Splice_Site_p.V114L|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	114	Involved in binding to CCT complex.		G -> C (in VHLD; type II). {ECO:0000269|PubMed:8956040}.|G -> R (in VHLD; type I-II).|G -> S (in VHLD; type II). {ECO:0000269|PubMed:8825918}.		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.G114C(5)|p.G114R(4)|p.G114S(2)|p.Y112fs*1(2)|p.G114fs*45(1)|p.?(1)|p.S111fs*45(1)|p.G114fs*17(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)		CAGCTACCGAGGTACGGGCCC	0.697		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"""	17	Substitution - Missense(11)|Deletion - Frameshift(5)|Unknown(1)	kidney(17)	GRCh37	CM044739|CM941372|CM951284	VHL	M							10.0	11.0	10.0					3																	10183871		1848	3825	5673	SO:0001630	splice_region_variant	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.340+1G>C	3.37:g.10183871G>C			B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.307241|5.307241	0.95629|0.95629	.|.	.|.	ENSG00000134086|ENSG00000134086	ENST00000256474;ENST00000450183|ENST00000345392	D|D	0.99857|0.99803	-7.22|-6.82	5.08|5.08	5.08|5.08	0.68730|0.68730	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.99616|0.99616	0.9860|0.9860	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999994|0.999994	D|D	0.89917|0.61697	1.0|0.99	D|D	0.97110|0.72625	1.0|0.978	D|D	0.97682|0.97682	1.0173|1.0173	10|9	0.46703|0.62326	T|D	0.11|0.03	-8.0737|-8.0737	16.0436|16.0436	0.80701|0.80701	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	114|114	P40337|P40337-2	VHL_HUMAN|.	R|L	114;32|114	ENSP00000256474:G114R|ENSP00000344757:V114L	ENSP00000256474:G114R|ENSP00000344757:V114L	G|V	+|+	1|1	0|0	VHL|VHL	10158871|10158871	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.877000|0.877000	0.50540|0.50540	4.377000|4.377000	0.59562|0.59562	2.377000|2.377000	0.81083|0.81083	0.479000|0.479000	0.44913|0.44913	GGT|GTG		0.697	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	Missense_Mutation
WDFY2	115825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	52293353	52293353	+	Silent	SNP	G	G	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr13:52293353G>C	ENST00000298125.5	+	5	534	c.354G>C	c.(352-354)acG>acC	p.T118T		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	118							metal ion binding (GO:0046872)	p.T118T(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		GCAGAGTGACGATGATCCTGT	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											145.0	132.0	136.0					13																	52293353		2203	4300	6503	SO:0001819	synonymous_variant	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.354G>C	13.37:g.52293353G>C			B1AL86|Q96CS1	Silent	SNP	ENST00000298125.5	37	CCDS9429.1																																																																																				0.517	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045985.3		NM_052950	
ZNF17	7565	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57931180	57931180	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr19:57931180C>G	ENST00000601808.1	+	3	533	c.320C>G	c.(319-321)cCc>cGc	p.P107R	AC003002.6_ENST00000596400.1_Missense_Mutation_p.P119R|ZNF17_ENST00000595206.1_3'UTR|ZNF17_ENST00000307658.7_Missense_Mutation_p.P109R|AC004076.7_ENST00000597410.1_Intron	NM_006959.2	NP_008890.2	P17021	ZNF17_HUMAN	zinc finger protein 17	107					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.P107R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GGAACACACCCCAAGCGTACA	0.507																																					Melanoma(149;1637 1853 29914 42869 44988)												1	Substitution - Missense(1)	kidney(1)											129.0	127.0	127.0					19																	57931180		2203	4300	6503	SO:0001583	missense	7565			X52341	CCDS42636.1	19q13.43	2013-01-08	2006-05-10			ENSG00000186272		"""Zinc fingers, C2H2-type"", ""-"""	12958	protein-coding gene	gene with protein product			"""zinc finger protein 17 (HPF3, KOX 10)"""			2115127, 2014798	Standard	NM_006959		Approved	HPF3, KOX10, KIAA1947, FLJ40864, FLJ46058, FLJ46615	uc002qoo.1	P17021		ENST00000601808.1:c.320C>G	19.37:g.57931180C>G	ENSP00000471905:p.Pro107Arg		B3KXU2|B3KY20|Q8N7M1|Q8N893|Q8TF54	Missense_Mutation	SNP	ENST00000601808.1	37	CCDS42636.1	.	.	.	.	.	.	.	.	.	.	C	1.422	-0.572512	0.03882	.	.	ENSG00000186272	ENST00000307658	.	.	.	2.0	0.943	0.19531	.	.	.	.	.	T	0.24699	0.0599	L	0.37750	1.13	0.09310	N	1	P;B	0.34462	0.454;0.308	B;B	0.36244	0.22;0.061	T	0.18304	-1.0341	8	0.25106	T	0.35	.	4.6915	0.12783	0.0:0.8084:0.0:0.1916	.	109;107	P17021-2;P17021	.;ZNF17_HUMAN	R	107	.	ENSP00000302455:P107R	P	+	2	0	ZNF17	62622992	0.002000	0.14202	0.012000	0.15200	0.022000	0.10575	-0.047000	0.11963	0.399000	0.25367	-0.143000	0.13931	CCC		0.507	ZNF17-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466384.1		NM_006959	
LYST	1130	broad.mit.edu	37	1	235907322	235907322	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4782-01A-02D-1421-08	TCGA-BP-4782-11A-01D-1421-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454	.		Illumina GAIIx	468ba8c3-0141-4150-aeba-fa0a7e8e007e	bae9db07-4abb-48f6-a598-9477dc0795b4	g.chr1:235907322T>C	ENST00000389794.3	-	30	8282	c.8108A>G	c.(8107-8109)aAa>aGa	p.K2703R	LYST_ENST00000389793.2_Missense_Mutation_p.K2703R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2703					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)		p.K2703R(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAAAATTTCTTTCTGAAATGG	0.313																																						.											1	Substitution - Missense(1)	kidney(1)											49.0	55.0	53.0					1																	235907322		2200	4292	6492	SO:0001583	missense	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.8108A>G	1.37:g.235907322T>C	ENSP00000374444:p.Lys2703Arg		O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	6.965	0.547911	0.13312	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.64991	-0.13;-0.13	5.64	3.34	0.38264	.	5.280330	0.00166	N	0.000010	T	0.53626	0.1808	L	0.32530	0.975	0.80722	D	1	B	0.19331	0.035	B	0.15870	0.014	T	0.30794	-0.9966	10	0.30078	T	0.28	.	7.9296	0.29895	0.0:0.16:0.0:0.84	.	2703	Q99698	LYST_HUMAN	R	2703	ENSP00000374444:K2703R;ENSP00000374443:K2703R	ENSP00000374443:K2703R	K	-	2	0	LYST	233973945	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	1.632000	0.37102	1.083000	0.41159	0.528000	0.53228	AAA		0.313	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			
